Term IRI	Term label	Parent term IRI	Parent term label	Alternative term	Definition
http://purl.obolibrary.org/obo/SYMP_0000852	anuria	http://purl.obolibrary.org/obo/SYMP_0000486	urinary system symptom		A urinary system symptom that is characterized by the absence of, or by defective, urine excretion.
http://purl.obolibrary.org/obo/SYMP_0000248	decreased conscious proprioception	http://purl.obolibrary.org/obo/SYMP_0000247	proprioception symptom		A proprioception symptom that is characterized by a decreased ability of an organism to consciously process the reception of stimuli produced within the organism.
http://purl.obolibrary.org/obo/TRANS_0000011	vehicle-borne fomite transmission	http://purl.obolibrary.org/obo/TRANS_0000010	vehicle-borne transmission		Vehicle-borne fomite transmission is an indirect vehicle-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by inanimate objects including: medical instruments, cloth, fur, metal or plastic utensils.
http://purl.obolibrary.org/obo/SYMP_0000513	stridor	http://purl.obolibrary.org/obo/SYMP_0000587	abnormal chest sound		An abnormal chest sound that is characterized by a harsh vibrating sound heard during respiration in cases of obstruction of the air passages.
http://purl.obolibrary.org/obo/SYMP_0000636	maculopapular rash	http://purl.obolibrary.org/obo/SYMP_0000487	rash		A rash characterized by papule(s), which are a raised area of the skin and macule(s), which are a flat red area of the skin.
http://purl.obolibrary.org/obo/SYMP_0000213	agraphia	http://purl.obolibrary.org/obo/SYMP_0000508	aphasia		An aphasia that is characterized by a pathological loss of the ability to write.
http://purl.obolibrary.org/obo/SYMP_0000737	respiratory tract mucosa ulcer	http://purl.obolibrary.org/obo/SYMP_0000514	respiratory system and chest symptom		A respiratory system and chest symptom that is characterized by an ulceration (dying and sloughing) of the bronchial or bronchiolar epithelium, exposing the underlying basement membrane.
http://purl.obolibrary.org/obo/SYMP_0000532	urge incontinence	http://purl.obolibrary.org/obo/SYMP_0000492	urinary incontinence		A urinary incontinence that is characterized by an involuntary leakage of urine from the bladder when a sudden strong need to urinate is felt, even when the bladder isn't full.
http://purl.obolibrary.org/obo/SYMP_0000252	diffuse rash	http://purl.obolibrary.org/obo/SYMP_0000487	rash		A rash characterized by large patches of red skin, without overlying changes in the epidermis.
http://purl.obolibrary.org/obo/TRANS_0000005	vector-borne transmission	http://purl.obolibrary.org/obo/TRANS_0000002	indirect transmission		Vector-borne transmission is an indirect transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an animate intermediary vector to another host. Most vectors are arthropods such as mosquitoes, fleas, and ticks.
http://purl.obolibrary.org/obo/DOID_60002	Bartholin's gland disease	http://purl.obolibrary.org/obo/DOID_229	female reproductive system disease		A female reproductive system disease that is located in Bartholin's gland.
http://purl.obolibrary.org/obo/DOID_60003	Bartholin's gland cancer	http://purl.obolibrary.org/obo/DOID_1245	vulva cancer		A vulva cancer that is located in Bartholin's gland.
http://purl.obolibrary.org/obo/DOID_0080364	malignant adenoma	http://purl.obolibrary.org/obo/DOID_0050687	cell type cancer		A cell type cancer that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures, representing an early form of colorectal cancer.
http://purl.obolibrary.org/obo/DOID_0080374	gastroesophageal cancer	http://purl.obolibrary.org/obo/DOID_3119	gastrointestinal system cancer		A gastrointestinal system cancer that is located_in the proximal esophagus and the distal stomach.
http://purl.obolibrary.org/obo/DOID_0080375	gastroesophageal adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		A gastroesophageal cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue.
http://purl.obolibrary.org/obo/DOID_0080376	trichorhinophalangeal syndrome type III	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23.
http://purl.obolibrary.org/obo/DOID_0080377	peroxisomal biogenesis disorder	http://purl.obolibrary.org/obo/DOID_906	peroxisomal disease		A peroxisomal biogenesis disorder that has_material_basis_in defects in PEX genes.
http://purl.obolibrary.org/obo/DOID_0080379	nephrotic syndrome type 2	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31.
http://purl.obolibrary.org/obo/DOID_0080380	nephrotic syndrome type 5	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A familial nephrotic syndrome characterized by prenatal or neonatal onset of progressive renal failure with proteinurea and edema that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p.
http://purl.obolibrary.org/obo/DOID_0080381	nephrotic syndrome type 13	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A familial nephrotic syndrome characterized by early onset of steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis that has_material_basis_in homozygous mutation in the NUP205 gene on chromosome 7q33.
http://purl.obolibrary.org/obo/DOID_0080382	nephrotic syndrome type 3	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A familial nephrotic syndrome characterized by early childhood onset, steroid restance and diffuse mesangial sclerosis in most patients that has_material_basis_in homozygous or compound heterozygous mutation in the PLCE1 gene on chromosome 10q23.
http://purl.obolibrary.org/obo/DOID_0080383	nephrotic syndrome type 4	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A familial nephrotic syndrome that has_material_basis_in heterozygous mutation in the WT1 gene on chromosome 11p13.
http://purl.obolibrary.org/obo/DOID_0080384	nephrotic syndrome type 6	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A familial nephrotic syndrome that has_material_basis_in homozygous mutation in the PTPRO gene on chromosome 12p12.
http://purl.obolibrary.org/obo/DOID_0080385	nephrotic syndrome type 11	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A familial nephrotic syndrome characterized by onset in the first decade of life of steroid resistant progressive renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15.
http://purl.obolibrary.org/obo/DOID_0080386	nephrotic syndrome type 10	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A familial nephrotic syndrome characterized by early childhood onset that has_material_basis_in homozygous or compound heterozygous mutation in the EMP2 gene on chromosome 16p13.
http://purl.obolibrary.org/obo/DOID_0080387	nephrotic syndrome type 12	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A familial nephrotic syndrome characterized by early childhood onset of steroid-resistant progressive renal failure with focal segmental glomerulosclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the NUP93 gene on chromosome 16q13.
http://purl.obolibrary.org/obo/DOID_0080388	nephrotic syndrome type 7	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that has_material_basis_in homozygous or compound heterozygous mutation in the DGKE gene on chromosome 17q22.
http://purl.obolibrary.org/obo/DOID_0080389	nephrotic syndrome type 8	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A familial nephrotic syndrome characterized by neonatal or early childhood onset steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGDIA gene on chromosome 17q25.
http://purl.obolibrary.org/obo/DOID_0080390	nephrotic syndrome type 1	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0080391	nephrotic syndrome type 9	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A familial nephrotic syndrome characterized by steroid-resistant proteinuria, hypoalbuminemia and edema with onset in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the COQ8B gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0080392	nephrotic syndrome type 17	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP85 gene on chromosome 17q25.
http://purl.obolibrary.org/obo/DOID_0080393	nephrotic syndrome type 18	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP133 gene on chromosome 1q42.
http://purl.obolibrary.org/obo/DOID_0080394	nephrotic syndrome type 19	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A familial nephrotic syndrome that has_material_basis_in compound heterozygous mutation in the NUP160 gene on chromosome 11p11.
http://purl.obolibrary.org/obo/DOID_0080395	orofacial cleft 1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An orofacial cleft characterized by autosomal dominant inheritance that has_material_basis_in variation in chromosome region 6p24.3.
http://purl.obolibrary.org/obo/DOID_0080396	orofacial cleft 2	http://purl.obolibrary.org/obo/DOID_0050567	orofacial cleft		An orofacial cleft that has_material_basis_in variation in the chromosome region 2p13.
http://purl.obolibrary.org/obo/DOID_0080397	orofacial cleft 3	http://purl.obolibrary.org/obo/DOID_0050567	orofacial cleft		An orofacial cleft that has_material_basis_in variation in the chromosomal region 19q13.
http://purl.obolibrary.org/obo/DOID_0080398	orofacial cleft 4	http://purl.obolibrary.org/obo/DOID_0050567	orofacial cleft		An orofacial cleft that has_material_basis_in variation in the 4q21-q31 chromosomal region.
http://purl.obolibrary.org/obo/DOID_0080399	orofacial cleft 5	http://purl.obolibrary.org/obo/DOID_0050567	orofacial cleft		An orofacial cleft that has_material_basis_in mutation in the MSX1 gene on chromosome 4p16.
http://purl.obolibrary.org/obo/DOID_0080400	orofacial cleft 7	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An orofacial cleft that has_material_basis_in by homozygous mutation in the PVRL1 gene on chromosome 11q23.
http://purl.obolibrary.org/obo/DOID_0080401	orofacial cleft 8	http://purl.obolibrary.org/obo/DOID_0050567	orofacial cleft		An orofacial cleft that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.
http://purl.obolibrary.org/obo/DOID_0080402	orofacial cleft 9	http://purl.obolibrary.org/obo/DOID_0050567	orofacial cleft		An orofacial cleft that has_material_basis_in variation in the chromosome region 13q33.1-q34.
http://purl.obolibrary.org/obo/DOID_0080403	orofacial cleft 10	http://purl.obolibrary.org/obo/DOID_0050567	orofacial cleft		An orofacial cleft that has_material_basis_in mutation in the SUMO1 gene on chromosome 2q33.
http://purl.obolibrary.org/obo/DOID_0080404	orofacial cleft 11	http://purl.obolibrary.org/obo/DOID_0050567	orofacial cleft		An orofacial cleft that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.
http://purl.obolibrary.org/obo/DOID_0080405	orofacial cleft 12	http://purl.obolibrary.org/obo/DOID_0050567	orofacial cleft		An orofacial cleft that has_material_basis_in variation in the chromosome region 8q24.3.
http://purl.obolibrary.org/obo/DOID_0080406	orofacial cleft 13	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An orofacial cleft characterized by autosomal dominant inheritance that has_material_basis_in variation in chromosome region 1p33 associated with enrichment of the T allele of SNP rs3827730.
http://purl.obolibrary.org/obo/DOID_0080407	orofacial cleft 14	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An orofacial cleft that is characterized by incomplete median clefts of both the lower lip and upper lip, double labial frenulum and fusion of the upper gingival and upper labial mucosa, in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors.
http://purl.obolibrary.org/obo/DOID_0080408	orofacial cleft 15	http://purl.obolibrary.org/obo/DOID_0050567	orofacial cleft		An orofacial cleft that has_material_basis_in mutation in the DLX4 gene on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0080409	familial adenomatous polyposis 1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A familial adenomatous polyposis that is characterized by predisposition to cancer and that has_material_basis_in heterozygous mutation in the APC gene on chromosome 5q22. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated.
http://purl.obolibrary.org/obo/DOID_0080410	familial adenomatous polyposis 2	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34.
http://purl.obolibrary.org/obo/DOID_0080411	familial adenomatous polyposis 3	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the NTHL1 gene on chromosome 16p13.
http://purl.obolibrary.org/obo/DOID_0080412	familial adenomatous polyposis 4	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A familial adenomatous polyposis characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer and that has_material_basis_in compound heterozygous mutation in the MSH3 gene on chromosome 5q11.
http://purl.obolibrary.org/obo/DOID_0080413	developmental and epileptic encephalopathy 18	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34.
http://purl.obolibrary.org/obo/DOID_0080414	developmental and epileptic encephalopathy 15	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ST3GAL3 gene on chromosome 1p34.
http://purl.obolibrary.org/obo/DOID_0080415	developmental and epileptic encephalopathy 23	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31.
http://purl.obolibrary.org/obo/DOID_0080416	developmental and epileptic encephalopathy 32	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the KCNA2 gene on chromosome 1p13.
http://purl.obolibrary.org/obo/DOID_0080417	developmental and epileptic encephalopathy 38	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42.
http://purl.obolibrary.org/obo/DOID_0080418	developmental and epileptic encephalopathy 54	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44.
http://purl.obolibrary.org/obo/DOID_0080419	developmental and epileptic encephalopathy 50	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the CAD gene on chromosome 2p23.
http://purl.obolibrary.org/obo/DOID_0080420	developmental and epileptic encephalopathy 62	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24.
http://purl.obolibrary.org/obo/DOID_0080421	developmental and epileptic encephalopathy 11	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q24.
http://purl.obolibrary.org/obo/DOID_0080422	Dravet syndrome	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24.
http://purl.obolibrary.org/obo/DOID_0080424	developmental and epileptic encephalopathy 44	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.
http://purl.obolibrary.org/obo/DOID_0080425	developmental and epileptic encephalopathy 47	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28.
http://purl.obolibrary.org/obo/DOID_0080426	developmental and epileptic encephalopathy 63	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of refractory infantile spasms and myoclonic seizures and evere to profound developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CPLX1 gene on chromosome 4p16.
http://purl.obolibrary.org/obo/DOID_0080427	developmental and epileptic encephalopathy 40	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12.
http://purl.obolibrary.org/obo/DOID_0080428	developmental and epileptic encephalopathy 45	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13.
http://purl.obolibrary.org/obo/DOID_0080429	developmental and epileptic encephalopathy 24	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset in infancy of refactory seizures, severely impaired global development, intellectual disability, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the HCN1 gene on chromosome 5p12.
http://purl.obolibrary.org/obo/DOID_0080430	developmental and epileptic encephalopathy 65	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the CYFIP2 gene on chromosome 5q33.
http://purl.obolibrary.org/obo/DOID_0080431	developmental and epileptic encephalopathy 19	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34.
http://purl.obolibrary.org/obo/DOID_0080432	developmental and epileptic encephalopathy 60	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p.
http://purl.obolibrary.org/obo/DOID_0080433	developmental and epileptic encephalopathy 51	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11.
http://purl.obolibrary.org/obo/DOID_0080434	developmental and epileptic encephalopathy 61	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM22 gene on chromosome 7q21.
http://purl.obolibrary.org/obo/DOID_0080435	developmental and epileptic encephalopathy 37	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by onset of intractable seizures or abnormal movement in the first years of life and developmental delay or regression after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the FRRS1L gene (604574) on chromosome 9q31.
http://purl.obolibrary.org/obo/DOID_0080436	developmental and epileptic encephalopathy 4	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1.
http://purl.obolibrary.org/obo/DOID_0080437	developmental and epileptic encephalopathy 31A	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0080438	developmental and epileptic encephalopathy 5	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0080439	developmental and epileptic encephalopathy 14	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0080440	developmental and epileptic encephalopathy 3	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15.
http://purl.obolibrary.org/obo/DOID_0080441	developmental and epileptic encephalopathy 49	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15.
http://purl.obolibrary.org/obo/DOID_0080442	developmental and epileptic encephalopathy 41	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that has_material_basis_in heterozygous mutation in the SLC1A2 gene on chromosome 11p13.
http://purl.obolibrary.org/obo/DOID_0080443	developmental and epileptic encephalopathy 21	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13.
http://purl.obolibrary.org/obo/DOID_0080444	developmental and epileptic encephalopathy 27	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12.
http://purl.obolibrary.org/obo/DOID_0080445	developmental and epileptic encephalopathy 13	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0080446	developmental and epileptic encephalopathy 66	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has_material_basis_in heterozygous mutation in the PACS2 gene on chromosome 14q32.
http://purl.obolibrary.org/obo/DOID_0080447	developmental and epileptic encephalopathy 43	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11.
http://purl.obolibrary.org/obo/DOID_0080448	developmental and epileptic encephalopathy 48	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25.
http://purl.obolibrary.org/obo/DOID_0080449	developmental and epileptic encephalopathy 16	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.
http://purl.obolibrary.org/obo/DOID_0080450	developmental and epileptic encephalopathy 17	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13.
http://purl.obolibrary.org/obo/DOID_0080451	developmental and epileptic encephalopathy 29	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory myoclonic seizures, poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation that has_material_basis_in homozygous or compound heterozygous mutation in the AARS1 gene on chromosome 16q22.
http://purl.obolibrary.org/obo/DOID_0080452	developmental and epileptic encephalopathy 28	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23.
http://purl.obolibrary.org/obo/DOID_0080453	developmental and epileptic encephalopathy 25	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0080454	developmental and epileptic encephalopathy 42	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0080455	developmental and epileptic encephalopathy 52	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0080456	developmental and epileptic encephalopathy 46	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0080457	microcephaly, seizures, and developmental delay	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0080458	developmental and epileptic encephalopathy 35	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13.
http://purl.obolibrary.org/obo/DOID_0080459	developmental and epileptic encephalopathy 12	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3.
http://purl.obolibrary.org/obo/DOID_0080460	developmental and epileptic encephalopathy 34	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12.
http://purl.obolibrary.org/obo/DOID_0080461	developmental and epileptic encephalopathy 26	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13.
http://purl.obolibrary.org/obo/DOID_0080462	developmental and epileptic encephalopathy 7	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13.
http://purl.obolibrary.org/obo/DOID_0080463	developmental and epileptic encephalopathy 33	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset in the first months of life of seizures and severe global developmental delay with impaired intellectual development and poor or absent speech that has_material_basis_in heterozygous mutation in the EEF1A2 gene on chromosome 20q13.
http://purl.obolibrary.org/obo/DOID_0080464	developmental and epileptic encephalopathy 53	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22.
http://purl.obolibrary.org/obo/DOID_0080465	developmental and epileptic encephalopathy 30	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22.
http://purl.obolibrary.org/obo/DOID_0080467	developmental and epileptic encephalopathy 2	http://purl.obolibrary.org/obo/DOID_0080009	X-linked dominant disease		A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22.
http://purl.obolibrary.org/obo/DOID_0080468	developmental and epileptic encephalopathy 1	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A developmental and epileptic encephalopathy characterized by X-linked recessive inheritance of frequent tonic seizures or spasms beginning in infancy that has_material_basis_in mutation in the ARX gene on chromosome Xp21.
http://purl.obolibrary.org/obo/DOID_0080470	developmental and epileptic encephalopathy 36	http://purl.obolibrary.org/obo/DOID_0080009	X-linked dominant disease		A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23.
http://purl.obolibrary.org/obo/DOID_0080471	developmental and epileptic encephalopathy 92	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34.
http://purl.obolibrary.org/obo/DOID_0080472	developmental and epileptic encephalopathy 91	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has_material_basis_in heterozygous mutation in the PPP3CA gene on chromosome 4q24.
http://purl.obolibrary.org/obo/DOID_0080473	developmental delay and seizures with or without movement abnormalities	http://purl.obolibrary.org/obo/DOID_0050888	syndromic intellectual disability		A syndromic intellectual disability characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component that has_material_basis_in heterozygous mutation in the DHDDS gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0080474	pustular psoriasis 14	http://purl.obolibrary.org/obo/DOID_8893	psoriasis		A psoriasis characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein that has_material_basis_in homozygous or compound heterozygous mutation in the IL36RN gene on chromosome 2q14.
http://purl.obolibrary.org/obo/DOID_0080475	psoriasis 2	http://purl.obolibrary.org/obo/DOID_8893	psoriasis		A psoriasis that has_material_basis_in heterozygous mutation in the CARD14 gene on chromosome 17q25.
http://purl.obolibrary.org/obo/DOID_0080476	peroxisome biogenesis disorder 1A	http://purl.obolibrary.org/obo/DOID_905	Zellweger syndrome		A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21.
http://purl.obolibrary.org/obo/DOID_0080477	peroxisome biogenesis disorder 2A	http://purl.obolibrary.org/obo/DOID_905	Zellweger syndrome		A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.
http://purl.obolibrary.org/obo/DOID_0080478	peroxisome biogenesis disorder 3A	http://purl.obolibrary.org/obo/DOID_905	Zellweger syndrome		A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17.
http://purl.obolibrary.org/obo/DOID_0080479	peroxisome biogenesis disorder 4A	http://purl.obolibrary.org/obo/DOID_905	Zellweger syndrome		A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1.
http://purl.obolibrary.org/obo/DOID_0080480	peroxisome biogenesis disorder 5A	http://purl.obolibrary.org/obo/DOID_905	Zellweger syndrome		A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX2 gene on chromosome 8q21.
http://purl.obolibrary.org/obo/DOID_0080481	peroxisome biogenesis disorder 6A	http://purl.obolibrary.org/obo/DOID_905	Zellweger syndrome		A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX10 gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0080482	peroxisome biogenesis disorder 7A	http://purl.obolibrary.org/obo/DOID_905	Zellweger syndrome		A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11.
http://purl.obolibrary.org/obo/DOID_0080483	peroxisome biogenesis disorder 8A	http://purl.obolibrary.org/obo/DOID_905	Zellweger syndrome		A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11.
http://purl.obolibrary.org/obo/DOID_0080484	peroxisome biogenesis disorder 10A	http://purl.obolibrary.org/obo/DOID_905	Zellweger syndrome		A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX3 gene on chromosome 6q24.
http://purl.obolibrary.org/obo/DOID_0080485	peroxisome biogenesis disorder 11A	http://purl.obolibrary.org/obo/DOID_905	Zellweger syndrome		A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15.
http://purl.obolibrary.org/obo/DOID_0080486	peroxisome biogenesis disorder 12A	http://purl.obolibrary.org/obo/DOID_905	Zellweger syndrome		A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX19 gene on chromosome 1q23.
http://purl.obolibrary.org/obo/DOID_0080487	peroxisome biogenesis disorder 13A	http://purl.obolibrary.org/obo/DOID_905	Zellweger syndrome		A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX14 gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0080488	mucolipidosis	http://purl.obolibrary.org/obo/DOID_9455	lipid storage disease		A lipid storage disease that is characterized by increased storage of carbohydrates and lipids.
http://purl.obolibrary.org/obo/DOID_0080489	GM1 gangliosidosis type 3	http://purl.obolibrary.org/obo/DOID_3322	GM1 gangliosidosis		A GM1 gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and with age at onset ranges from 3 to 30 years.
http://purl.obolibrary.org/obo/DOID_0080490	mucolipidosis type IV	http://purl.obolibrary.org/obo/DOID_0080488	mucolipidosis		A mucolipidosis that is characterized by delayed development and vision impairment that worsens over time.
http://purl.obolibrary.org/obo/DOID_0080491	cerebral cavernous malformation 1	http://purl.obolibrary.org/obo/DOID_0060669	cerebral cavernous malformation		A cerebral cavernous malformation that has_material_basis_in heterozygous mutation in the KRIT1 gene on chromosome 7q21.
http://purl.obolibrary.org/obo/DOID_0080492	leukocyte adhesion deficiency 2	http://purl.obolibrary.org/obo/DOID_6612	leukocyte adhesion deficiency		A leukocyte adhesion deficiency that is characterized by the absence of Sialyl Lewis X of E-selectin resulting in recurrent bacterial infections, severe growth delay and severe intellectual deficit.
http://purl.obolibrary.org/obo/DOID_0080493	ovarian dysgenesis 1	http://purl.obolibrary.org/obo/DOID_14450	46 XX gonadal dysgenesis		A 46 XX gonadal dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding follicle-stimulating hormone receptor on chromosome 2p16.
http://purl.obolibrary.org/obo/DOID_0080494	ovarian dysgenesis 2	http://purl.obolibrary.org/obo/DOID_14450	46 XX gonadal dysgenesis		A 46 XX gonadal dysgenesis that has_material_basis_in mutation in the BMP15 gene on chromosome Xp11.
http://purl.obolibrary.org/obo/DOID_0080495	ovarian dysgenesis 3	http://purl.obolibrary.org/obo/DOID_14450	46 XX gonadal dysgenesis		A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the PSMC3IP gene on chromosome 17q12-q21.
http://purl.obolibrary.org/obo/DOID_0080496	ovarian dysgenesis 4	http://purl.obolibrary.org/obo/DOID_14450	46 XX gonadal dysgenesis		A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MCM9 gene on chromosome 6q22.
http://purl.obolibrary.org/obo/DOID_0080497	ovarian dysgenesis 5	http://purl.obolibrary.org/obo/DOID_14450	46 XX gonadal dysgenesis		A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the SOHLH1 gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0080498	ovarian dysgenesis 6	http://purl.obolibrary.org/obo/DOID_14450	46 XX gonadal dysgenesis		A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the NUP107 gene on chromosome 12q15.
http://purl.obolibrary.org/obo/DOID_0080499	ovarian dysgenesis 7	http://purl.obolibrary.org/obo/DOID_14450	46 XX gonadal dysgenesis		A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MRPS22 gene on chromosome 3q23.
http://purl.obolibrary.org/obo/DOID_0080500	ovarian dysgenesis 8	http://purl.obolibrary.org/obo/DOID_14450	46 XX gonadal dysgenesis		A 46 XX gonadal dysgenesis that has_material_basis_in heterozygous mutation in the ESR2 gene on chromosome 14q23.
http://purl.obolibrary.org/obo/SYMP_0000900	allergic reaction	http://purl.obolibrary.org/obo/SYMP_0019138	immune system symptom		An immune system symptom that is characterized by sensitivities to substances called allergens.
http://purl.obolibrary.org/obo/TRANS_0000028	propagative transmission	http://purl.obolibrary.org/obo/TRANS_0000015	biologic transmission		Propagative transmission is an indirect vector-borne biological transmission process during which the pathogen that is ingested with the blood meal undergoes simple multiplication in the body of the vector.
http://purl.obolibrary.org/obo/TRANS_0000029	cyclopropagative transmission	http://purl.obolibrary.org/obo/TRANS_0000015	biologic transmission		Cyclopropagative transmission is an indirect vector-borne biological transmission process during which the pathogen undergoes a developmental cycle (changes from one stage to another) as well as multiplication in the body of the vector.
http://purl.obolibrary.org/obo/TRANS_0000030	cyclodevelopmental transmission	http://purl.obolibrary.org/obo/TRANS_0000015	biologic transmission		Cyclodevelopmental transmission is an indirect vector-borne biological transmission process during which the pathogen undergoes developmental changes from one stage to another, but does not multiply.
http://purl.obolibrary.org/obo/TRANS_0000031	transovarial transmission	http://purl.obolibrary.org/obo/TRANS_0000015	biologic transmission		Transovarial transmission is an indirect vector-borne biological transmission process during which the pathogen is transmitted from the female parent through the eggs to the offspring and the developing egg is infected.
http://purl.obolibrary.org/obo/TRANS_0000032	vertical transmission	http://purl.obolibrary.org/obo/TRANS_0000015	biologic transmission		Vertical transmission is an indirect vector-borne biological transmission process during which the pathogen is transmitted from the female parent through the eggs to the offspring. Only the ovarial sheath and oviduct are infected. The egg becomes infected as it passes down the oviduct and is inseminated.
http://purl.obolibrary.org/obo/TRANS_0000033	trans-stadial transmission	http://purl.obolibrary.org/obo/TRANS_0000015	biologic transmission		Trans-stadial transmission is an indirect vector-borne biological transmission process during which the newly hatched larval stages are infected with the pathogen, which is then transmitted to subsequent development stages of the vector.
http://purl.obolibrary.org/obo/TRANS_0000034	venereal transmission	http://purl.obolibrary.org/obo/TRANS_0000015	biologic transmission		Venereal transmission is an indirect vector-borne biological transmission process during which the pathogen is transferred to uninfected female vectors in the seminal fluid during copulation.
http://purl.obolibrary.org/obo/DOID_0080849	ocular motor apraxia, Cogan type	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye disease that is characterized by defective or absent horizontal voluntary eye movements, and defective or absent horizontal ocular attraction movements.
http://purl.obolibrary.org/obo/DOID_0080850	pemphigus foliaceus	http://purl.obolibrary.org/obo/DOID_9182	pemphigus		A pemphigus that is characterized by blistering lesions on otherwise healthy-looking skin.
http://purl.obolibrary.org/obo/DOID_0080851	IgA pemphigus	http://purl.obolibrary.org/obo/DOID_9182	pemphigus		A pemphigus that is characterized by painful and pruritic vesiculopustular eruptions. These eruptions form as a result of circulating IgA antibodies against keratinocyte cell surface components responsible for cell to cell adherence.
http://purl.obolibrary.org/obo/DOID_0080852	paraneoplastic pemphigus	http://purl.obolibrary.org/obo/DOID_9182	pemphigus		A pemphigus that is characterized by painful blisters and denuded areas of the mouth, lips, oesophagus and skin.
http://purl.obolibrary.org/obo/DOID_0080854	anaplastic pleomorphic xanthoastrocytoma	http://purl.obolibrary.org/obo/DOID_3069	malignant astrocytoma		A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields.
http://purl.obolibrary.org/obo/DOID_0080855	Parkinsonism	http://purl.obolibrary.org/obo/DOID_480	movement disease		A movement disorder that is characterized by disturbances of balance, gait and posture.
http://purl.obolibrary.org/obo/DOID_0080856	vascular Parkinsonism	http://purl.obolibrary.org/obo/DOID_0080855	Parkinsonism		A Parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin.
http://purl.obolibrary.org/obo/DOID_0080857	primary ovarian insufficiency 1	http://purl.obolibrary.org/obo/DOID_0050735	X-linked monogenic disease		A primary ovarian insufficiency that has_material_basis_in premutations in the FMR1 gene on chromosome Xq27.3, within a region defined as POF1 (Xq26-q28).
http://purl.obolibrary.org/obo/DOID_0080858	primary ovarian insufficiency 2A	http://purl.obolibrary.org/obo/DOID_0080009	X-linked dominant disease		A primary ovarian insufficiency that has_material_basis_in mutation in the DIAPH2 gene on chromosome Xq22.
http://purl.obolibrary.org/obo/DOID_0080859	primary ovarian insufficiency 2B	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A primary ovarian insufficiency that has_material_basis_in mutation in the POF1B gene.
http://purl.obolibrary.org/obo/DOID_0080860	primary ovarian insufficiency 3	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A primary ovarian insufficiency characterized by the cessation of ovarian function before the age of 40 years, with amenorrhea, hypoestrogenism, and elevated serum gonadotropin concentrations that has_material_basis_in heterozygous mutation in the FOXL2 gene on chromosome 3q22.
http://purl.obolibrary.org/obo/DOID_0080861	primary ovarian insufficiency 4	http://purl.obolibrary.org/obo/DOID_0050735	X-linked monogenic disease		A primary ovarian insufficiency that has_material_basis_in caused by mutation in the BMP15 gene on chromosome Xp11.
http://purl.obolibrary.org/obo/DOID_0080862	primary ovarian insufficiency 5	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NOBOX gene on chromosome 7q35.
http://purl.obolibrary.org/obo/DOID_0080863	primary ovarian insufficiency 6	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A primary ovarian insufficiency that has_material_basis_in heterozygous or homozygous mutation in the FIGLA gene on chromosome 2p13.
http://purl.obolibrary.org/obo/DOID_0080864	primary ovarian insufficiency 7	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.
http://purl.obolibrary.org/obo/DOID_0080865	primary ovarian insufficiency 8	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the STAG3 gene on chromosome 7q22.
http://purl.obolibrary.org/obo/DOID_0080866	primary ovarian insufficiency 9	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A primary ovarian insufficiency that has_material_basis_in compound heterozygous mutation in the HFM1 gene on chromosome 1p22.
http://purl.obolibrary.org/obo/DOID_0080867	primary ovarian insufficiency 10	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A primary ovarian insufficiency that is characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells and that has_material_basis_in homozygous mutation in the MCM8 gene on chromosome 20p.
http://purl.obolibrary.org/obo/DOID_0080868	primary ovarian insufficiency 11	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A primary ovarian insufficiency that is characterized by secondary amenorrhea and hypergonadotropic ovarian insufficiency, with elevated serum follicle-stimulating hormone levels before age 40 years and that has_material_basis_in heterozygous mutation in the ERCC6 gene on chromosome 10q11.
http://purl.obolibrary.org/obo/DOID_0080869	primary ovarian insufficiency 12	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the SYCE1 gene on chromosome 10q26.
http://purl.obolibrary.org/obo/DOID_0080870	primary ovarian insufficiency 13	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the MSH5 gene on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0080871	primary ovarian insufficiency 14	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the GDF9 gene on chromosome 5q31.
http://purl.obolibrary.org/obo/DOID_0080872	primary ovarian insufficiency 15	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A primary ovarian insufficiency that is characterized by onset of oligomenorrhea in the third decade of life, with small ovaries, reduced number of follicles, and elevated gonadotropic hormones and that has_material_basis_in homozygous mutation in the FANCM gene on chromosome 14q21.
http://purl.obolibrary.org/obo/DOID_0080873	primary ovarian insufficiency 16	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A primary ovarian insufficiency that is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone levels and low estradiol levels and that has_material_basis_in heterozygous mutation in the BNC1 gene on chromosome 15q25.
http://purl.obolibrary.org/obo/DOID_0080874	primary ovarian insufficiency 17	http://purl.obolibrary.org/obo/DOID_5426	primary ovarian insufficiency		A primary ovarian insufficiency that is characterized by early cessation of menses after initial menarche, with small ovaries and uterus and that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36.
http://purl.obolibrary.org/obo/DOID_0112201	osteogenesis imperfecta type 21	http://purl.obolibrary.org/obo/DOID_12347	osteogenesis imperfecta		An osteogenesis imperfecta characterized by multiple fractures that often occur after minor trauma, disproportionate short stature, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in KDELR2 on chromosome 7p22.1.
http://purl.obolibrary.org/obo/DOID_0112202	developmental and epileptic encephalopathy	http://purl.obolibrary.org/obo/DOID_0050701	electroclinical syndrome		An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood.
http://purl.obolibrary.org/obo/DOID_0112203	developmental and epileptic encephalopathy 67	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior that has_material_basis_in heterozygous mutation in the CUX2 gene on chromosome 12q24.11-q24.12.
http://purl.obolibrary.org/obo/DOID_0112204	developmental and epileptic encephalopathy 68	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by progressive development of seizures starting in infancy, developmental delay, axial hypotonia, spasticity of the limbs, clonus, and cortical atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TRAK1 gene on chromosome 3p22.1.
http://purl.obolibrary.org/obo/DOID_0112205	developmental and epileptic encephalopathy 69	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in the CACNA1E gene on chromosome 1q25.3.
http://purl.obolibrary.org/obo/DOID_0112206	developmental and epileptic encephalopathy 70	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent walking and language skills, and moderate to severe intellectual impairment that has_material_basis_in heterozygous mutation in the PHACTR1 gene on chromosome 6p24.1.
http://purl.obolibrary.org/obo/DOID_0112207	developmental and epileptic encephalopathy 71	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2.
http://purl.obolibrary.org/obo/DOID_0112208	developmental and epileptic encephalopathy 72	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has_material_basis_in heterozygous mutation in the NEUROD2 gene on chromosome 17q12.
http://purl.obolibrary.org/obo/DOID_0112209	developmental and epileptic encephalopathy 73	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in the RNF13 gene on chromosome 3q25.1.
http://purl.obolibrary.org/obo/DOID_0112210	developmental and epileptic encephalopathy 74	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34.
http://purl.obolibrary.org/obo/DOID_0112211	developmental and epileptic encephalopathy 75	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by onset in the first months of life of severe refractory seizures, multifocal spikes and hypsarrhythmia on EEG, severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutation in the PARS2 gene on chromosome 1p32.3.
http://purl.obolibrary.org/obo/DOID_0112212	developmental and epileptic encephalopathy 76	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL6B gene on chromosome 7q22.1.
http://purl.obolibrary.org/obo/DOID_0112213	multiple congenital anomalies-hypotonia-seizures syndrome 4	http://purl.obolibrary.org/obo/DOID_0080503	multiple congenital anomalies-hypotonia-seizures syndrome		A multiple congenital anomalies-hypotonia-seizures syndrome characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PIGQ gene on chromosome 16p13.3.
http://purl.obolibrary.org/obo/DOID_0112214	developmental and epileptic encephalopathy 78	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA2 gene on chromosome 4p12.
http://purl.obolibrary.org/obo/DOID_0112215	developmental and epileptic encephalopathy 79	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in the GABRA5 gene on chromosome 15q12.
http://purl.obolibrary.org/obo/DOID_0112216	developmental and epileptic encephalopathy 80	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound heterozygous mutation in the PIGB gene on chromosome 15q21.3.
http://purl.obolibrary.org/obo/DOID_0112217	developmental and epileptic encephalopathy 81	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of severe refractory seizures, little developmental progress, cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DMXL2 gene on chromosome 15q21.2.
http://purl.obolibrary.org/obo/DOID_0112218	developmental and epileptic encephalopathy 83	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the UGP2 gene on chromosome 2p15.
http://purl.obolibrary.org/obo/DOID_0112219	developmental and epileptic encephalopathy 84	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in the UGDH gene on chromosome 4p14.
http://purl.obolibrary.org/obo/DOID_0112220	developmental and epileptic encephalopathy 86	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by severe and persistent seizures associated with EEG abnormalities beginning in the first few months of life, global developmental delay, severe motor deficits, dystonic movements, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DALRD2 gene on chromosome 3p21.31.
http://purl.obolibrary.org/obo/DOID_0112221	developmental and epileptic encephalopathy 87	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age that has_material_basis_in heterozygous mutation in the CDK19 gene on chromosome 6q21.
http://purl.obolibrary.org/obo/DOID_0112222	developmental and epileptic encephalopathy 88	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MDH1 gene on chromosome 2p15.
http://purl.obolibrary.org/obo/DOID_0112223	developmental and epileptic encephalopathy 89	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has_material_basis_in homozygous or compound heterozygous mutation in the GAD1 gene on chromosome 2q31.1.
http://purl.obolibrary.org/obo/DOID_0112224	chondrodysplasia with joint dislocations gPAPP type	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, joint hyperlaxity and/or dislocations, micrognathia, cleft palate, brachydactyly, short metacarpals, supernumerary carpal ossification centers and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the IMPAD1 gene on chromosome 8q12.
http://purl.obolibrary.org/obo/DOID_0112225	BH4-deficient hyperphenylalaninemia B	http://purl.obolibrary.org/obo/DOID_0081132	tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia		A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in homozygous or compound heterozygous mutation in the GCH1 gene on chromosome 14q22.2.
http://purl.obolibrary.org/obo/DOID_0080923	bilateral parasagittal parieto-occipital polymicrogyria	http://purl.obolibrary.org/obo/DOID_0080918	polymicrogyria		A polymicrogyria that is characterized by bilateral malformation of cortical development, centered around the parasagittal and mesial aspects of the parietooccipital cortex and that has_material_basis_in homozygous mutation in the FIG4 gene on chromosome 6q21.
http://purl.obolibrary.org/obo/DOID_0112237	lissencephaly 1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in heterozygous mutation in the PAFAH1B1 gene on chromosome 17p13.3.
http://purl.obolibrary.org/obo/DOID_0081034	glutatione synthetase deficiency with 5-oxoprolinuria	http://purl.obolibrary.org/obo/DOID_0080699	glutathione synthetase deficiency		A glutathione synthetase deficiency that is characterized by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding glutathione synthetase (GSS) on chromosome 20q11. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline.
http://purl.obolibrary.org/obo/DOID_0081036	mixed phenotype acute leukemia with BCR-ABL1	http://purl.obolibrary.org/obo/DOID_9953	acute biphenotypic leukemia		An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR.
http://purl.obolibrary.org/obo/DOID_0081037	mixed phenotype acute leukemia with MLL rearranged	http://purl.obolibrary.org/obo/DOID_9953	acute biphenotypic leukemia		An acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner.
http://purl.obolibrary.org/obo/DOID_0081038	mixed phenotype acute leukemia, B/myeloid	http://purl.obolibrary.org/obo/DOID_9953	acute biphenotypic leukemia		An acute biphenotypic leukemia that is characterized by blasts which express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation.
http://purl.obolibrary.org/obo/DOID_0081039	mixed phenotype acute leukemia, T/myeloid	http://purl.obolibrary.org/obo/DOID_9953	acute biphenotypic leukemia		An acute biphenotypic leukemia that is characterized by blasts that express antigens of both T and myeloid antigens.
http://purl.obolibrary.org/obo/DOID_0081041	B-cell prolymphocytic leukemia	http://purl.obolibrary.org/obo/DOID_1039	prolymphocytic leukemia		A prolymphocytic leukemia that is characterized by medium-sized, round lymphoid cells with prominent nucleoli exceeding 55% of lymphoid cells in the blood.
http://purl.obolibrary.org/obo/DOID_0081042	T-cell prolymphocytic leukemia	http://purl.obolibrary.org/obo/DOID_1039	prolymphocytic leukemia		A prolymphocytic leukemia that is characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin.
http://purl.obolibrary.org/obo/DOID_0081043	fetal akinesia deformation sequence syndrome X-linked	http://purl.obolibrary.org/obo/DOID_0111375	fetal akinesia deformation sequence syndrome		A fetal akinesia deformation sequence syndrom that is an X-linked form that is characterized by brain malformations, telecanthus, and narrow palpebral fissures.
http://purl.obolibrary.org/obo/DOID_0081044	frontonasal dysplasia	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is a cleft in thes nose, a broad nose, wide spaced eyes and a widow's peak.
http://purl.obolibrary.org/obo/DOID_0081045	frontonasal dysplasia 1	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A frontonasal dysplasia that is characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline, and has_material_basis_in homozygous mutation in the aristaless-like homeobox-3 gene (ALX3) on chromosome 1p13.
http://purl.obolibrary.org/obo/DOID_0081046	frontonasal dysplasia 2	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX4 gene on chromosome 11p11.
http://purl.obolibrary.org/obo/DOID_0081047	frontonasal dysplasia 3	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX1 gene on chromosome 12q21.
http://purl.obolibrary.org/obo/DOID_0081048	congenital limbs-face contractures-hypotonia-developmental delay syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay and that has_material_basis_in heterozygous mutation in the NALCN gene on chromosome 13q33.
http://purl.obolibrary.org/obo/DOID_0081049	hepatosplenic T-cell lymphoma	http://purl.obolibrary.org/obo/DOID_0050743	mature T-cell and NK-cell lymphoma		A mature T-cell and NK-cell lymphoma that is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids and that originates from cytotoxic T-cells, usually of gamma/delta T-cell type.
http://purl.obolibrary.org/obo/DOID_0081050	primary cutaneous gamma-delta T-cell lymphoma	http://purl.obolibrary.org/obo/DOID_0060061	primary cutaneous T-cell non-Hodgkin lymphoma		A primary cutaneous T-cell non-Hodgkin lymphoma that is characterized by the clonal cutaneous proliferation of activated mature gamma-delta T cells with a cytotoxic phenotype.
http://purl.obolibrary.org/obo/DOID_0081051	microcephaly, growth deficiency, seizures, and brain malformations	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development, and that has_material_basis_in homozygous mutation in the WDR4 gene on chromosome 21q22.
http://purl.obolibrary.org/obo/DOID_0081052	neurobehavioral disorder with prenatal alcohol exposure	http://purl.obolibrary.org/obo/DOID_0050696	fetal alcohol spectrum disorder		A fetal alcohol spectrum disorder that is characterized by one or more deficits in neurocognition and in self-regulation plus two or more deficits in adaptive functioning, with at least 1 in communication or social communication and interaction.
http://purl.obolibrary.org/obo/DOID_0081055	central diabetes insipidus	http://purl.obolibrary.org/obo/DOID_9409	diabetes insipidus		A diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis.
http://purl.obolibrary.org/obo/DOID_0081057	gestational diabetes insipidus	http://purl.obolibrary.org/obo/DOID_9409	diabetes insipidus		A diabetes insipidus that is characterized by progressively rising levels of placental vasopressinase throughout pregnancy, resulting in decreased endogenous vasopressin and resulting hypotonic polyuria worsening through the pregnancy.
http://purl.obolibrary.org/obo/DOID_0081058	dipsogenic diabetes insipidus	http://purl.obolibrary.org/obo/DOID_9409	diabetes insipidus		A diabetes insipidus that is characterized by excessive thirst, polyuria with low urine osmolality, and intact urine concentrating ability.
http://purl.obolibrary.org/obo/DOID_0081059	X-linked central diabetes insipidus	http://purl.obolibrary.org/obo/DOID_0050735	X-linked monogenic disease		A central diabetes insipidus that has_material_basis_in X-linked inheritance.
http://purl.obolibrary.org/obo/DOID_0081060	X-linked nephrogenic diabetes insipidus	http://purl.obolibrary.org/obo/DOID_12387	nephrogenic diabetes insipidus		A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in a mutation in the gene encoding the vasopressin V2 receptor (AVPR2) on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0081061	nephrogenic diabetes insipidus type 2	http://purl.obolibrary.org/obo/DOID_12387	nephrogenic diabetes insipidus		A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding the aquaporin-2 water channel (AQP2), which maps to chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0081068	ST2 diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/DOID_0050745	diffuse large B-cell lymphoma		A diffuse large B-cell lymphoma that is categorized as ST2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and ST2 DLBCLs often, but do not always, have missense or nonsense mutations affecting TET2 and NFKBIA. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting some combination of SGK1, ZFP36L1, SOCS1, HIST1H1E and CD83, which can be coding or non-coding.
http://purl.obolibrary.org/obo/DOID_0081069	A53 diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/DOID_0050745	diffuse large B-cell lymphoma		A diffuse large B-cell lymphoma that is characterized by aneuploidy with TP53 inactivation.
http://purl.obolibrary.org/obo/DOID_0081070	EZB-MYC+ diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/DOID_0081065	EZB diffuse large B-cell lymphoma		An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations.
http://purl.obolibrary.org/obo/DOID_0081071	EZB-MYC- diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/DOID_0081065	EZB diffuse large B-cell lymphoma		An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations.
http://purl.obolibrary.org/obo/SYMP_0020035	conjunctival congestion	http://purl.obolibrary.org/obo/SYMP_0020034	conjunctiva symptom		An eye symptom that is characterized by (need def conjunctival congestion - placeholder for xref).
http://purl.obolibrary.org/obo/SYMP_0020037	conjunctival suffusion	http://purl.obolibrary.org/obo/SYMP_0020034	conjunctiva symptom		An eye symptom that is characterized by (need def conjunctival suffusion - placeholder for xref).
http://purl.obolibrary.org/obo/SYMP_0020039	contracture	http://purl.obolibrary.org/obo/SYMP_0000891	musculoskeletal system symptom		A musculoskeletal system symptom that is characterized by a permanent tightening of the muscles, tendons, skin, and nearby tissues that causes the joints to shorten and become very stiff.
http://purl.obolibrary.org/obo/SYMP_0020041	corkscrew hair	http://purl.obolibrary.org/obo/SYMP_0020040	hair symptom		A hair symptom that is characterized by coiled “corkscrew” hairs on the surface of the arms, legs and chest, which can occur as a result low level of ascorbic acid (vitamin C).
http://purl.obolibrary.org/obo/SYMP_0020042	corneal scarring	http://purl.obolibrary.org/obo/SYMP_0000239	cornea symptom		A cornea symptom that is characterized by scarring (an opacity or irregularity in the cornea) of the cornea, from trauma; abrasion; bacterial, fungal, viral, or parasitic infection; or disease, and can result in impaired vision, or even blindness.
http://purl.obolibrary.org/obo/SYMP_0020043	dark urine	http://purl.obolibrary.org/obo/SYMP_0000486	urinary system symptom		A urinary system symptom that is characterized by an elevation in the concentration of the the pigments from foods, dyes, and medications in urine. The dilution of these pigment is dependent on the amount of water intake and severe dehydration can lead to a dark color.
http://purl.obolibrary.org/obo/DOID_0081317	multiple synostoses syndrome 1	http://purl.obolibrary.org/obo/DOID_0050794	multiple synostoses syndrome		A multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22.
http://purl.obolibrary.org/obo/DOID_0081318	multiple synostoses syndrome 2	http://purl.obolibrary.org/obo/DOID_0050794	multiple synostoses syndrome		A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.
http://purl.obolibrary.org/obo/DOID_0081319	multiple synostoses syndrome 3	http://purl.obolibrary.org/obo/DOID_0050794	multiple synostoses syndrome		A multiple synostoses syndrome that is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the FGF9 gene on chromosome 13q12.
http://purl.obolibrary.org/obo/DOID_0081320	multiple synostoses syndrome 4	http://purl.obolibrary.org/obo/DOID_0050794	multiple synostoses syndrome		A multiple synostoses syndrome that is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22.
http://purl.obolibrary.org/obo/DOID_0081321	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	http://purl.obolibrary.org/obo/DOID_0080110	contractures, pterygia, and spondylocarpotarsal fusion syndrome		A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature and that has material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0081322	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B	http://purl.obolibrary.org/obo/DOID_0080110	contractures, pterygia, and spondylocarpotarsal fusion syndrome		A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions and that has_material_basis_in compound heterozygous mutation in the MYH3 gene on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0081323	breast implant illness	http://purl.obolibrary.org/obo/DOID_3463	breast disease		A syndrome that is characterized by fatigue, problems with memory or concentration, joint and muscle pain, hair loss, weight changes and anxiety/depression.
http://purl.obolibrary.org/obo/DOID_0081324	neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that is characterized by poor growth, spastic tetraplegia, and hearing loss and that has_material_basis_in homozygous mutation in the PSMC1 gene on chromosome 14q32.
http://purl.obolibrary.org/obo/DOID_0081325	developmental and epileptic encephalopathy 94	http://purl.obolibrary.org/obo/DOID_0112202	developmental and epileptic encephalopathy		A developmental and epileptic encephalopathy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis and that has_material_basis_in heterozygous mutation in the CHD2 gene on chromosome 15q26.
http://purl.obolibrary.org/obo/DOID_0081326	oxoglutarate dehydrogenase deficiency	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that has_material_basis_in homozygous mutation in the oxoglutarate dehydrogenase gene (OGDH) on chromosome 7p13.
http://purl.obolibrary.org/obo/DOID_0081327	neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	http://purl.obolibrary.org/obo/DOID_1289	neurodegenerative disease		A neurodegenerative disease that is characterized by neurodevelopmental regression that became apparent between 2 and 10 years of age after normal early development in most patients, although a few had mild early delays and that has_material_basis_in heterozygous mutation in the IRF2BPL gene on chromosome 14q24.
http://purl.obolibrary.org/obo/DOID_0081330	glycogen storage disease Ib	http://purl.obolibrary.org/obo/DOID_0081329	glycogen storage disease I		A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23.
http://purl.obolibrary.org/obo/DOID_0081363	distal myopathy with rimmed vacuoles	http://purl.obolibrary.org/obo/DOID_11720	distal myopathy		A distal myopathy that is characterized by adult onset of muscle weakness affecting the distal upper and lower limbs, which may result in walking difficulties, as well as proximal weakness of the shoulder girdle muscles and that has_material_basis_in by heterozygous mutation in the SQSTM1 gene on chromosome 5q35.
http://purl.obolibrary.org/obo/DOID_0081358	epidermolytic hyperkeratosis 1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An epidermolytic hyperkeratosis that is characterized in adulthood by warty flexural hyperkeratosis with fewer erosions and blisters and that usually presents at birth with erythema and blistering and that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0070419	acrocardiofacial syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by split-hand/split-foot malformation, facial anomalies, cleft lip/palate, congenital heart defect, genital anomalies, and intellectual deficit.
http://purl.obolibrary.org/obo/DOID_0070528	cepacia syndrome	http://purl.obolibrary.org/obo/DOID_0050340	opportunistic bacterial infectious disease		An opportunistic bacterial infectious disease characterized by necrotizing pneumonia, acute respiratory distress syndrome, and bacteremia that has_material_basis_in Burkholderia cepacia complex, which is transmitted_by contact transmission, droplet spread transmission, vehicle-borne fomite transmission, and vehicle-borne ingestion transmission.
http://purl.obolibrary.org/obo/DOID_0070573	spermatogenic failure 74	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by nonobstructive azoospermia due to complete meiotic arrest at the spermatocyte zygotene or pachytene stage that has_material_basis_in homozygous mutation in the MSH5 gene on chromosome 6p21.33.
http://purl.obolibrary.org/obo/DOID_0060989	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by distinctive facial features including midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding with keletal anomalies including patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray that has_material_basis_in heterozygous mutation in the BMP2 gene on chromosome 20p12.
http://purl.obolibrary.org/obo/DOID_0070608	autosomal dominant nonsyndromic deafness 81	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ELMOD3 gene on chromosome 2p11.
http://purl.obolibrary.org/obo/DOID_0070602	autosomal dominant nonsyndromic deafness 80	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness characterized by congenital deafness associated with absent or malformed cochleae and eighth cranial nerves that has_material_basis_in heterozygous mutation in the GREB1L gene on chromosome 18q11.
http://purl.obolibrary.org/obo/DOID_0060990	congenital disorder of deglycosylation 2	http://purl.obolibrary.org/obo/DOID_0060991	congenital disorder of deglycosylation		A carbohydrate metabolic disorder characterized by variable associated features such as dysmorphic facies, impaired intellectual development, and brain anomalies, including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis that has_material_basis_in homozygous or compound heterozygous mutation in the MAN2C1 gene on chromosome 15q24.
http://purl.obolibrary.org/obo/DOID_0070600	intellectual disability and myopathy syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by global developmental delay with mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and abnormalities in brain white matter that has_material_basis in homozygous or compound heterozygous mutation in the ABCC9 gene on chromosome 12p12.
http://purl.obolibrary.org/obo/DOID_0070610	autosomal dominant nonsyndromic deafness 86	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness characterized by late-onset progressive hearing loss through p53-mediated hair cell apoptosis that has_material_basis_in heterozygous mutation in the THOC1 gene on chromosome 18p11.
http://purl.obolibrary.org/obo/CHEBI_103210	hexahydrophthalic anhydride	http://purl.obolibrary.org/obo/DISDRIV_0000006	chemical driver		A cyclic dicarboxylic anhydride that is the cyclic anhydride of hexahydrophthalic acid.
http://purl.obolibrary.org/obo/CHEBI_50904	allergen	http://purl.obolibrary.org/obo/DISDRIV_0000003	biological driver		A chemical compound, or part thereof, which causes the onset of an allergic reaction by interacting with any of the molecular pathways involved in an allergy.
http://purl.obolibrary.org/obo/CHEBI_3387	carbamazepine	http://purl.obolibrary.org/obo/DISDRIV_0000006	chemical driver		A dibenzoazepine that is 5H-dibenzo[b,f]azepine carrying a carbamoyl substituent at the azepine nitrogen, used as an anticonvulsant.
http://purl.obolibrary.org/obo/CHEBI_17245	carbon monoxide	http://purl.obolibrary.org/obo/CHEBI_64909	poison		A one-carbon compound in which the carbon is joined only to a single oxygen. It is a colourless, odourless, tasteless, toxic gas.
http://purl.obolibrary.org/obo/CHEBI_33216	bisphenol A	http://purl.obolibrary.org/obo/CHEBI_138015	endocrine disruptor		A bisphenol that is 4,4'-methanediyldiphenol in which the methylene hydrogens are replaced by two methyl groups.
http://purl.obolibrary.org/obo/CHEBI_49706	perchlorate	http://purl.obolibrary.org/obo/CHEBI_138015	endocrine disruptor		A monovalent inorganic anion obtained by deprotonation of perchloric acid.
http://purl.obolibrary.org/obo/CHEBI_64909	poison	http://purl.obolibrary.org/obo/DISDRIV_0000006	chemical driver		Any substance that causes disturbance to organisms by chemical reaction or other activity on the molecular scale, when a sufficient quantity is absorbed by the organism.
http://purl.obolibrary.org/obo/CHEBI_22271	aflatoxin	http://purl.obolibrary.org/obo/CHEBI_27026	toxin		Any of a group of related and highly toxic secondary metabolites (mycotoxins) whose main structural feature is a fused coumarin-bis (dihydrofuran) ring system and which are produced by strains of the moulds Aspergillus flavus or A. parasiticus, together with further metabolites of these mycotoxins.
http://purl.obolibrary.org/obo/CHEBI_22977	cadmium atom	http://purl.obolibrary.org/obo/CHEBI_5631	heavy metal		A heavy metal that is cadmium, a soft, malleable, bluish white metal found in zinc ores.
http://purl.obolibrary.org/obo/CHEBI_25016	lead atom	http://purl.obolibrary.org/obo/CHEBI_5631	heavy metal		A chemical driver that is composed of lead, which is found primarily in old paint, old paint dust, contaminated soil or contaminated drinking water.
http://purl.obolibrary.org/obo/CHEBI_25195	mercury atom	http://purl.obolibrary.org/obo/CHEBI_5631	heavy metal		A heavy metal that is mercury, is toxic to living organisms, is an odorless, shiny, silver-white liquid that is commonly used in thermometers, barometers and fluorescent light bulbs.
http://purl.obolibrary.org/obo/CHEBI_27470	folic acid	http://purl.obolibrary.org/obo/CHEBI_33284	nutrient		An N-acyl-amino acid that is a form of the water-soluble vitamin B9. Its biologically active forms (tetrahydrofolate and others) are essential for nucleotide biosynthesis and homocysteine remethylation.
http://purl.obolibrary.org/obo/CHEBI_27563	arsenic atom	http://purl.obolibrary.org/obo/CHEBI_5631	heavy metal		A heavy metal that is arsenic, a heavy metal that is poisonous at low concentrations.
http://purl.obolibrary.org/obo/CHEBI_27638	cobalt atom	http://purl.obolibrary.org/obo/DISDRIV_0000006	chemical driver		A cobalt group element atom that has atomic number 27.
http://purl.obolibrary.org/obo/CHEBI_28073	chromium atom	http://purl.obolibrary.org/obo/CHEBI_5631	heavy metal		A heavy metal that is chromium, a chromium group element atom that has atomic number 24.
http://purl.obolibrary.org/obo/CHEBI_28619	acrylamide	http://purl.obolibrary.org/obo/DISDRIV_0000006	chemical driver		A member of the class of acrylamides that results from the formal condensation of acrylic acid with ammonia.
http://purl.obolibrary.org/obo/CHEBI_33217	3,3',5,5'-tetrabromobisphenol A	http://purl.obolibrary.org/obo/CHEBI_79314	flame retardant		A bromobisphenol that is 4,4'-methanediyldiphenol in which the methylene hydrogens are replaced by two methyl groups and the phenyl rings are substituted by bromo groups at positions 2, 2', 6 and 6'. It is a brominated flame retardant.
http://purl.obolibrary.org/obo/CHEBI_9513	thalidomide	http://purl.obolibrary.org/obo/DISDRIV_0000006	chemical driver		A chemical driver that acts primarily by inhibiting both the production of tumor necrosis factor alpha (TNF-alpha) in stimulated peripheral monocytes and the activities of interleukins and interferons and also inhibits polymorphonuclear chemotaxis and monocyte phagocytosis.
http://purl.obolibrary.org/obo/HP_0030674	Antenatal onset	http://purl.obolibrary.org/obo/HP_0003674	onset		Onset prior to birth.
http://purl.obolibrary.org/obo/DOID_0080547	metabolic dysfunction-associated steatohepatitis	http://purl.obolibrary.org/obo/DOID_0080208	metabolic dysfunction-associated steatotic liver disease		A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.
http://purl.obolibrary.org/obo/DOID_0080548	Noonan syndrome with multiple lentigines 1	http://purl.obolibrary.org/obo/DOID_14291	Noonan syndrome with multiple lentigines		A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.
http://purl.obolibrary.org/obo/DOID_0080549	Noonan syndrome with multiple lentigines 2	http://purl.obolibrary.org/obo/DOID_14291	Noonan syndrome with multiple lentigines		A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the RAF1 gene on chromosome 3p25.
http://purl.obolibrary.org/obo/DOID_0080550	Noonan syndrome with multiple lentigines 3	http://purl.obolibrary.org/obo/DOID_14291	Noonan syndrome with multiple lentigines		A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34.
http://purl.obolibrary.org/obo/DOID_0080551	Naxos disease	http://purl.obolibrary.org/obo/DOID_0050428	nonepidermolytic palmoplantar keratoderma		A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0080552	congenital disorder of glycosylation Ia	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13.
http://purl.obolibrary.org/obo/DOID_0080553	congenital disorder of glycosylation Iaa	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation I that is characterized by fibroblasts with reduced dolichol profiles and enhanced accumulation of free cholesterol and has_material_basis_in homozygous mutation in the NUS1 gene on chromosome 6q22.
http://purl.obolibrary.org/obo/DOID_0080554	congenital disorder of glycosylation Ib	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24.
http://purl.obolibrary.org/obo/DOID_0080555	congenital disorder of glycosylation Ic	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31.
http://purl.obolibrary.org/obo/DOID_0080556	congenital disorder of glycosylation Id	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27.
http://purl.obolibrary.org/obo/DOID_0080557	congenital disorder of glycosylation Ie	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13.
http://purl.obolibrary.org/obo/DOID_0080558	congenital disorder of glycosylation If	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0080559	congenital disorder of glycosylation Ig	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13.
http://purl.obolibrary.org/obo/DOID_0080560	congenital disorder of glycosylation Ih	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation I that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia and has_material_basis_in heterozygous mutation in the gene encoding dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase on chromosome 11q14.
http://purl.obolibrary.org/obo/DOID_0080561	congenital disorder of glycosylation Ii	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22.
http://purl.obolibrary.org/obo/DOID_0080562	congenital disorder of glycosylation Ij	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23.
http://purl.obolibrary.org/obo/DOID_0080563	congenital disorder of glycosylation Ik	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13.
http://purl.obolibrary.org/obo/DOID_0080564	congenital disorder of glycosylation Il	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23.
http://purl.obolibrary.org/obo/DOID_0080565	congenital disorder of glycosylation Im	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0080566	congenital disorder of glycosylation In	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21.
http://purl.obolibrary.org/obo/DOID_0080567	congenital disorder of glycosylation Ip	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14.
http://purl.obolibrary.org/obo/DOID_0080568	congenital disorder of glycosylation Iq	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12.
http://purl.obolibrary.org/obo/DOID_0080569	congenital disorder of glycosylation Ir	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0080570	congenital disorder of glycosylation It	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation I that is characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity and has_material_basis_in homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31.
http://purl.obolibrary.org/obo/DOID_0080571	congenital disorder of glycosylation Iu	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0080572	congenital disorder of glycosylation Iw	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the STT3A gene on chromosome 11q24.
http://purl.obolibrary.org/obo/DOID_0080573	congenital disorder of glycosylation Ix	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation I that is characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties and has_material_basis_in homozygous mutation in the STT3B gene on chromosome 3p23.
http://purl.obolibrary.org/obo/DOID_0080574	congenital disorder of glycosylation Iy	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A congenital disorder of glycosylation I that is characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus and has_material_basis_in hemizygous mutation in the SSR4 gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0080575	Larsen-like syndrome B3GAT3 type	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12.
http://purl.obolibrary.org/obo/DOID_0080576	spondyloepimetaphyseal dysplasia, Genevieve-type	http://purl.obolibrary.org/obo/DOID_0080027	spondyloepimetaphyseal dysplasia		A spondyloepimetaphyseal dysplasia that is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses and has_material_basis_in homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22.
http://purl.obolibrary.org/obo/DOID_0080577	polygenic disease	http://purl.obolibrary.org/obo/DOID_630	genetic disease		A genetic disease that is characterized by the additive contributions of variants in multiple genes at different loci.
http://purl.obolibrary.org/obo/DOID_0080578	digenic disease	http://purl.obolibrary.org/obo/DOID_0080577	polygenic disease		A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes.
http://purl.obolibrary.org/obo/DOID_0080579	3-methylcrotonyl-CoA carboxylase 1 deficiency	http://purl.obolibrary.org/obo/DOID_0050710	3-methylcrotonyl-CoA carboxylase deficiency		A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the alpha subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 3q27.
http://purl.obolibrary.org/obo/DOID_0080580	3-methylcrotonyl-CoA carboxylase 2 deficiency	http://purl.obolibrary.org/obo/DOID_0050710	3-methylcrotonyl-CoA carboxylase deficiency		A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 5q13.
http://purl.obolibrary.org/obo/DOID_0080581	hyperekplexia 4	http://purl.obolibrary.org/obo/DOID_0060695	hyperekplexia		A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appearance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23.
http://purl.obolibrary.org/obo/DOID_0080582	hypotrichosis 14	http://purl.obolibrary.org/obo/DOID_4535	hypotrichosis		A hypotrichosis that is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair and that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22.
http://purl.obolibrary.org/obo/DOID_0080615	nephroma	http://purl.obolibrary.org/obo/DOID_3116	kidney benign neoplasm		A kidney benign neoplasm that is located_in the kidney cortex.
http://purl.obolibrary.org/obo/DOID_0080616	kidney cortex disease	http://purl.obolibrary.org/obo/DOID_557	kidney disease		A kidney disease that is located_in the kidney cortex.
http://purl.obolibrary.org/obo/DOID_0080617	lymph node benign neoplasm	http://purl.obolibrary.org/obo/DOID_9942	lymph node disease		An immune system organ benign neoplasm that is located_in the lymph nodes.
http://purl.obolibrary.org/obo/DOID_0080619	auditory system benign neoplasm	http://purl.obolibrary.org/obo/DOID_2742	auditory system disease		A sensory system benign neoplasm that is located in the auditory system.
http://purl.obolibrary.org/obo/DOID_0080639	bone sarcoma	http://purl.obolibrary.org/obo/DOID_184	bone cancer		A bone cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm.
http://purl.obolibrary.org/obo/DOID_0080640	gallbladder benign neoplasm	http://purl.obolibrary.org/obo/DOID_0060262	gallbladder disease		A biliary tract benign neoplasm that is located_in the gallbladder.
http://purl.obolibrary.org/obo/DOID_0080841	pemphigoid	http://purl.obolibrary.org/obo/DOID_8502	bullous skin disease		An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily.
http://purl.obolibrary.org/obo/DOID_0081072	craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by abnormal development of the brain and structures in the face and torso including facial dysmorphism, intellectual deficit costovertebral abnormalities, and delayed development of speech and movement (motor) skills.
http://purl.obolibrary.org/obo/DOID_0081073	Teebi hypertelorism syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by hypertelorism, prominent forehead, thick eyebrows, and short nose with broad and depressed features.
http://purl.obolibrary.org/obo/DOID_0081074	Teebi hypertelorism syndrome 2	http://purl.obolibrary.org/obo/DOID_0081073	Teebi hypertelorism syndrome		A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the CDH11 gene on chromosome 16q21.
http://purl.obolibrary.org/obo/DOID_0081075	Marsili syndrome	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A syndrome that is characterized by a lowered ability to sense pain, to experience temperature, and to sweat and that has_material_basis_in heterozygous mutation in the ZFHX2 gene on chromosome 14q11.
http://purl.obolibrary.org/obo/DOID_0081076	blastic plasmacytoid dendritic cell neoplasm	http://purl.obolibrary.org/obo/DOID_12603	acute leukemia		An acute leukemia that is derived from the precursors of plasmacytoid dendritic cells, with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. Skin lesions appearing on the arms, legs, face and neck are the most common BPDCN symptom. Other symptoms include low counts of healthy blood cells and swollen lymph nodes.
http://purl.obolibrary.org/obo/DOID_0081077	ectodermal dysplasia and immune deficiency	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		An ectodermal dysplasia syndrome that is characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency.
http://purl.obolibrary.org/obo/DOID_0081078	ectodermal dysplasia and immunodeficiency 1	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		An ectodermal dysplasia and immunodeficiency that is characterized by onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life and that has_material_basis_in hemizygous mutation in the IKK-gamma gene (IKBKG) on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0081079	ectodermal dysplasia and immunodeficiency 2	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An ectodermal dysplasia and immunodeficiency that is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity and that has_material_basis_in heterozygous mutation in the NFKBIA gene on chromosome 14q13.
http://purl.obolibrary.org/obo/DOID_0081080	acute myeloid leukemia with t(6;9) (p23;q34.1)	http://purl.obolibrary.org/obo/DOID_9119	acute myeloid leukemia		An acute myeloid leukemia associated with t(6;9)(p23;q34), resulting in DEK-NUP214(CAN) fusion protein expression. It is often associated with multilineage dysplasia and basophilia.
http://purl.obolibrary.org/obo/DOID_0081081	acute promyelocytic leukemia with PML-RARA	http://purl.obolibrary.org/obo/DOID_0060318	acute promyelocytic leukemia		An acute promyelocytic leukemia that is characterized by a severe coagulopathy and the t(15;17)(q24;q21), generating a PML-RARA fusion gene, and where abnormal promyelocytes predominate.
http://purl.obolibrary.org/obo/DOID_0081082	acute myelomonocytic leukemia	http://purl.obolibrary.org/obo/DOID_9119	acute myeloid leukemia		An acute myeloid leukemia that is characterized by the proliferation of both neutrophil and monocyte precursors.
http://purl.obolibrary.org/obo/DOID_0081083	acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2)	http://purl.obolibrary.org/obo/DOID_9119	acute myeloid leukemia		An acute myeloid leukemia associated with inv(3)(q21q26.2) or t(3;3)(q21;q26.2), resulting in the expression of RPN1-EVI1 fusion protein and the reposition of a distal GATA2 enhancer to activate MECOM expression.
http://purl.obolibrary.org/obo/DOID_0081084	acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)	http://purl.obolibrary.org/obo/DOID_9119	acute myeloid leukemia		An acute myeloid leukemia that is characterized by the presence of abnormal bone marrow eosinophils and the characteristic cytogenetic abnormality inv(16)(p13.1q22) or t(16;16)(p13.1;q22), which results in the expression of the fusion protein CBFB-MYH11.
http://purl.obolibrary.org/obo/DOID_0081085	acute myeloid leukemia with minimal differentiation	http://purl.obolibrary.org/obo/DOID_9119	acute myeloid leukemia		An acute myeloid leukemia in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry.
http://purl.obolibrary.org/obo/DOID_0081086	acute myeloid leukemia without maturation	http://purl.obolibrary.org/obo/DOID_9119	acute myeloid leukemia		An acute myeloid leukemia that is characterized by blasts without evidence of significant maturation in the neutrophilic lineage.
http://purl.obolibrary.org/obo/DOID_0081087	acute myeloid leukemia with maturation	http://purl.obolibrary.org/obo/DOID_9119	acute myeloid leukemia		An acute myeloid leukemia characterized by blasts with evidence of significant maturation in the neutrophilic lineage.
http://purl.obolibrary.org/obo/DOID_0081088	chronic myelogenous leukemia, BCR-ABL1 positive	http://purl.obolibrary.org/obo/DOID_8552	chronic myeloid leukemia		A chronic myeloid leukemia that is characterized by an abnormally high number of neutrophils and the expression of the BCR-ABL1 fusion gene.
http://purl.obolibrary.org/obo/DOID_0081089	acute myeloid leukemia with mutated NPM1	http://purl.obolibrary.org/obo/DOID_9119	acute myeloid leukemia		An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features.
http://purl.obolibrary.org/obo/DOID_0081090	acute myeloid leukemia with biallelic mutation of CEBPA	http://purl.obolibrary.org/obo/DOID_9119	acute myeloid leukemia		An acute myeloid leukemia with double mutations of the CEBPA gene.
http://purl.obolibrary.org/obo/DOID_0081091	acute myeloid leukemia with mutated RUNX1	http://purl.obolibrary.org/obo/DOID_9119	acute myeloid leukemia		An acute myeloid leukemia that is characterized by de novo RUNX1 gene mutation, not associated with myelodysplastic syndrome-related cytogenetic abnormalities.
http://purl.obolibrary.org/obo/DOID_0081092	acute myeloid leukemia with myelodysplasia-related changes	http://purl.obolibrary.org/obo/DOID_9119	acute myeloid leukemia		An acute myeloid leukemia with at least 20% blasts in the bone marrow or blood and one of the following: a previous history of myelodysplastic syndrome; multilineage dysplasia; or myelodysplastic syndrome-related cytogenetic abnormalities.
http://purl.obolibrary.org/obo/DOID_0081093	acute myeloid leukemia with t(8;21); (q22; q22.1)	http://purl.obolibrary.org/obo/DOID_9119	acute myeloid leukemia		An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules.
http://purl.obolibrary.org/obo/DOID_0081094	acute myeloid leukemia with MLL rearrangement	http://purl.obolibrary.org/obo/DOID_9119	acute myeloid leukemia		An acute myeloid leukemia characterized by rearrangement of the MLL (mixed-lineage leukemia) gene.
http://purl.obolibrary.org/obo/DOID_0081095	acute myeloid leukemia with mutated CEBPA	http://purl.obolibrary.org/obo/DOID_9119	acute myeloid leukemia		An acute myeloid leukemia with non-germline mutations of the CEBPA gene.
http://purl.obolibrary.org/obo/DOID_0081096	acute myeloid leukemia with t(1;22)(p13;q13)	http://purl.obolibrary.org/obo/DOID_9119	acute myeloid leukemia		An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein.
http://purl.obolibrary.org/obo/DOID_0081097	Rafiq syndrome	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that is characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia and that has_material_basis_in homozygous mutation in the MAN1B1 gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0081098	autosomal recessive intellectual developmental disorder 13	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRAPPC9 gene on chromosome 8q24.
http://purl.obolibrary.org/obo/DOID_0081099	neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood and that has_material_basis_in homozygous mutation in the ADAT3 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0112374	muscular dystrophy-dystroglycanopathy	http://purl.obolibrary.org/obo/DOID_0050557	congenital muscular dystrophy		A congenital muscular dystrophy characterized by muscular dystrophy resulting from defective glycosylation of dystroglycan.
http://purl.obolibrary.org/obo/DOID_0112375	muscular dystrophy-dystroglycanopathy type B	http://purl.obolibrary.org/obo/DOID_0112374	muscular dystrophy-dystroglycanopathy		A muscular dystrophy-dystroglycanopathy characterized by early onset of muscle weakness, intellectual disability in most cases, and variable presence of mild brain anomalies.
http://purl.obolibrary.org/obo/SYMP_0020046	feeding problem	http://purl.obolibrary.org/obo/SYMP_0000522	feeding difficulties and mismanagement		A feeding difficulties and mismanagement that is characterized by delays and/or disorders in the development of eating and drinking skills including disordered placement of food in the mouth, difficulty in appropriately manipulating food when it is in the mouth, difficulty chewing, and/or difficulty swallowing.
http://purl.obolibrary.org/obo/SYMP_0020047	descending muscle paralysis	http://purl.obolibrary.org/obo/SYMP_0000030	paralysis		A paralysis that is characterized by a loss of motor function in one or more muscles, which can also be accompanied by a loss of feeling (sensory loss). Descending paralysis contrasts with ascending paralysis in that descending paralysis presents in the upper limbs before the lower limbs. Descending paralysis occurs in conditions such as botulism.
http://purl.obolibrary.org/obo/SYMP_0020049	delayed psychomotor development	http://purl.obolibrary.org/obo/SYMP_0000473	nutrition, metabolism, and development symptom		A nutrition, metabolism, and development symptom that is characterized by the delay in development child's cognitive, emotional, motor, and social capacities from the beginning of life throughout fetal and neonatal periods, infancy, childhood, and adolescence.
http://purl.obolibrary.org/obo/SYMP_0020050	decreased tearing	http://purl.obolibrary.org/obo/SYMP_0019163	eye symptom		An eye symptom that is characterized by a reduction in the saline fluid secreted by the lacrimal gland.
http://purl.obolibrary.org/obo/SYMP_0020051	decreased metabolism	http://purl.obolibrary.org/obo/SYMP_0000473	nutrition, metabolism, and development symptom		A nutrition, metabolism, and development symptom that is characterized by a reduction in the chemical reactions catalyzed by enzymes, which keep us alive. Metabolism allows organisms to grow, reproduce, maintain their structures, and respond to their environments and can be divided into catabolism (breaking down of organic matter) and anabolism (building of molecules).
http://purl.obolibrary.org/obo/SYMP_0020052	hand weakness	http://purl.obolibrary.org/obo/SYMP_0000094	muscle weakness		A muscle weakness that is characterized by a reduction in muscle strength, which may be the result of a variety of conditions, such as carpal tunnel syndrome, arthritis, peripheral neuropathy, tendon damage, and ganglion cysts.
http://purl.obolibrary.org/obo/DOID_0081287	white sponge nevus 1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A white sponge nevus that has_material_basis_in heterozygous mutation in the keratin-4 gene (KRT4) on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0081288	white sponge nevus 2	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A white sponge nevus that has_material_basis_in heterozygous mutation in the KRT13 gene on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0081289	Antley-Bixler syndrome	http://purl.obolibrary.org/obo/DOID_2340	craniosynostosis		A craniosynostosis that is characterized by radiohumeral synostosis present from the perinatal period.
http://purl.obolibrary.org/obo/DOID_0081290	Antley-Bixler syndrome without disordered steroidogenesis	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome.
http://purl.obolibrary.org/obo/DOID_0081291	chronic traumatic encephalopathy	http://purl.obolibrary.org/obo/DOID_680	tauopathy		A tauopathy that is characterized by an abundance of hyperphosphorylated tau protein in neurons, astrocytes and cell processes around blood vessels and that is associated with repetitive head impacts or exposure to blast waves.
http://purl.obolibrary.org/obo/DOID_0081292	traumatic brain injury	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.
http://purl.obolibrary.org/obo/DOID_0081293	salivary gland mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/DOID_4531	mucoepidermoid carcinoma		A mucoepidermoid carcinoma located_in the salivary gland.
http://purl.obolibrary.org/obo/DOID_0081294	neuronal intranuclear inclusion disease	http://purl.obolibrary.org/obo/DOID_1289	neurodegenerative disease		A neurodegenerative disease that is characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction, and that has_material_basis_in heterozygous repeat expansion (CGG) in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21.
http://purl.obolibrary.org/obo/DOID_0081295	essential tremor 6	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An essential tremor that is characterized by adult-onset kinetic and/or postural tremor usually affecting the upper limbs and that has_material_basis_in heterozygous trinucleotide GGC repeat expansion in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21.
http://purl.obolibrary.org/obo/DOID_0081296	oculopharyngodistal myopathy	http://purl.obolibrary.org/obo/DOID_423	myopathy		A myopathy that is characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities.
http://purl.obolibrary.org/obo/DOID_0081297	oculopharyngodistal myopathy 1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An oculopharyngodistal myopathy that is characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria, and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22.
http://purl.obolibrary.org/obo/DOID_0081298	oculopharyngodistal myopathy 2	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An oculopharyngodistal myopathy that is characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life, and that has_material_basis_in heterozygous trinucleotide repeat expansion (GGC(n)) in the 5-prime untranslated region (UTR) of the GIPC1 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0081299	oculopharyngodistal myopathy 3	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An oculopharyngodistal myopathy that is characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the NOTCH2NLC gene on chromosome 1q21.
http://purl.obolibrary.org/obo/DOID_0081300	oculopharyngodistal myopathy 4	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An oculopharyngodistal myopathy that is characterized by progressive ptosis, ophthalmoparesis, facial and masseter weakness, and muscle weakness of the distal limbs and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the RILPL1 gene on chromosome 12q24.
http://purl.obolibrary.org/obo/DOID_0081301	intellectual developmental disorder with ocular anomalies and distinctive facial features	http://purl.obolibrary.org/obo/DOID_0050888	syndromic intellectual disability		A syndromic intellectual disability that is characterized by global developmental delay, mildly impaired intellectual development, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features, and that has_material_basis_in heterozygous mutation in the MTSS2 gene on chromosome 16q22.
http://purl.obolibrary.org/obo/DOID_0081302	diffuse leptomeningeal glioneuronal tumor	http://purl.obolibrary.org/obo/DOID_0060090	central nervous system benign neoplasm		A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma.
http://purl.obolibrary.org/obo/DOID_0081303	multinodular and vacuolating neuronal tumor	http://purl.obolibrary.org/obo/DOID_0060090	central nervous system benign neoplasm		A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres.
http://purl.obolibrary.org/obo/DOID_0081304	high-grade astrocytoma with piloid features	http://purl.obolibrary.org/obo/DOID_3078	anaplastic astrocytoma		An anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa.
http://purl.obolibrary.org/obo/DOID_0081305	polymorphous low grade neuroepithelial tumour of the young	http://purl.obolibrary.org/obo/DOID_0060090	central nervous system benign neoplasm		A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy.
http://purl.obolibrary.org/obo/DOID_0081306	spindle cell oncocytoma	http://purl.obolibrary.org/obo/DOID_5048	posterior pituitary gland neoplasm		A posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles.
http://purl.obolibrary.org/obo/DOID_0081307	lymphomatoid granulomatosis	http://purl.obolibrary.org/obo/DOID_0060704	lymphoproliferative syndrome		A lymphoproliferative syndrome that is characterized by overproduction (proliferation) of white blood cells called lymphocytes. The abnormal cells infiltrate and accumulate (form lesions or nodules) within tissues. The lesions or nodules damage or destroy the blood vessels within these tissues.
http://purl.obolibrary.org/obo/DOID_0081308	grade I lymphomatoid granulomatosis	http://purl.obolibrary.org/obo/DOID_0081307	lymphomatoid granulomatosis		A lymphomatoid granulomatosis that is characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen.
http://purl.obolibrary.org/obo/DOID_0081309	grade II lymphomatoid granulomatosis	http://purl.obolibrary.org/obo/DOID_0081307	lymphomatoid granulomatosis		A lymphomatoid granulomatosis that is characterized by the presence of occasional large lymphoid cells or immunoblasts in a polymorphous background. Necrosis is more commonly seen as compared to grade I lymphomatoid granulomatosis. By in situ hybridization, EBV-positive cells are readily seen.
http://purl.obolibrary.org/obo/DOID_0081310	grade III lymphomatoid granulomatosis	http://purl.obolibrary.org/obo/DOID_0081307	lymphomatoid granulomatosis		A lymphomatoid granulomatosis that is characterized by the presence of aggregates of neoplastic large B-lymphocytes, usually admixed with pleomorphic and Hodgkin-like cells, in a background of chronic inflammation. Necrotic changes are present and are usually extensive.
http://purl.obolibrary.org/obo/DOID_0081311	intravascular large B-cell lymphoma	http://purl.obolibrary.org/obo/DOID_0081452	large B-cell lymphoma		A large B-cell lymphoma that is characterized by the presence of lymphoma cells exclusively in the lumina of small vessels, particularly capillaries.
http://purl.obolibrary.org/obo/DOID_0081312	T-cell non-Hodgkin lymphoma	http://purl.obolibrary.org/obo/DOID_0060060	non-Hodgkin lymphoma		A non-Hodgkin lymphoma of T-cell lineage.
http://purl.obolibrary.org/obo/DOID_0081313	primary diffuse large B-cell lymphoma of the central nervous system	http://purl.obolibrary.org/obo/DOID_0050745	diffuse large B-cell lymphoma		A diffuse large B-cell lymphoma arising from the central nervous system.
http://purl.obolibrary.org/obo/DOID_0081314	extraventricular neurocytoma	http://purl.obolibrary.org/obo/DOID_3541	cerebral ventricle cancer		A cerebral ventricle cancer that is characterized by the presence of neoplastic uniform, round cells with neuronal differentiation, that arises from the brain parenchyma. Unlike central neurocytoma, it does not involve the lateral ventricles.
http://purl.obolibrary.org/obo/DOID_0081315	central nervous system tumor with BCOR internal tandem duplication	http://purl.obolibrary.org/obo/DOID_0060103	central nervous system embryonal tumor		A central nervous system embryonal tumor that is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in exon 15 of the BCOR gene.
http://purl.obolibrary.org/obo/DOID_0081316	primary intracranial sarcoma, DICER1-mutant	http://purl.obolibrary.org/obo/DOID_2132	brain sarcoma		A brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene.
http://purl.obolibrary.org/obo/DOID_0070415	brachycephaly, trichomegaly, and developmental delay	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by brachycephaly, trichomegaly, and developmental delay, without anemia, that has_material_basis_in heterozygous mutation in the RPS23 gene on chromosome 5q14.
http://purl.obolibrary.org/obo/DOID_0081419	childhood-onset dystonia with optic atrophy and basal ganglia abnormalities	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia that is characterized by characterized by onset of involuntary movements in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the MECR gene on chromosome 1p35. Optic atrophy develops around the same time or slightly later.
http://purl.obolibrary.org/obo/DOID_0070612	autosomal dominant nonsyndromic deafness 89	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ATOH1 gene on chromosome 4q22.
http://purl.obolibrary.org/obo/DOID_0060999	mitochondrial trifunctional protein deficiency 2	http://purl.obolibrary.org/obo/DOID_0111277	mitochondrial trifunctional protein deficiency		A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHB gene the beta subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3.
http://purl.obolibrary.org/obo/DOID_0051003	congenital nonspherocytic hemolytic anemia 1	http://purl.obolibrary.org/obo/DOID_0050735	X-linked monogenic disease		A congenital nonspherocytic hemolytic anemia that has_material_basis_in mutation in the G6PD gene on chromosome Xq28, and is the most common genetic form of chronic and drug-, food-, or infection-induced hemolytic anemia.
http://purl.obolibrary.org/obo/DOID_0051005	congenital nonspherocytic hemolytic anemia 4	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHI gene (GPI) on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0051006	congenital nonspherocytic hemolytic anemia 5	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the HK1 gene, which encodes a form of hexokinase, on chromosome 10q22.
http://purl.obolibrary.org/obo/DOID_0051007	congenital nonspherocytic hemolytic anemia 8	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the UMPH1 gene (NT5C3A) on chromosome 7p14.
http://purl.obolibrary.org/obo/DOID_0051008	congenital nonspherocytic hemolytic anemia 9	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A congenital nonspherocytic hemolytic anemia that has_material_basis_in hemizygous or heterozygous mutation in the GATA1 gene on chromosome Xp11.
http://purl.obolibrary.org/obo/DOID_0051009	congenital nonspherocytic hemolytic anemia 10	http://purl.obolibrary.org/obo/DOID_2861	congenital nonspherocytic hemolytic anemia		A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GSR gene on chromosome 8p21.
http://purl.obolibrary.org/obo/DOID_0051010	Bryant-Li-Bhoj neurodevelopmental syndrome	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that is characterized by developmental delay / intellectual disability (typically in the severe range) and nonspecific craniofacial abnormalities.
http://purl.obolibrary.org/obo/DOID_0051011	Bryant-Li-Bhoj neurodevelopmental syndrome 1	http://purl.obolibrary.org/obo/DOID_0051010	Bryant-Li-Bhoj neurodevelopmental syndrome		A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones and that has_material_basis_in heterozygous mutation in the H3F3A gene on chromosome 1q42.
http://purl.obolibrary.org/obo/DOID_0051012	Bryant-Li-Bhoj neurodevelopmental syndrome 2	http://purl.obolibrary.org/obo/DOID_0051010	Bryant-Li-Bhoj neurodevelopmental syndrome		A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones nd that has_material_basis_in heterozygous mutation in the H3F3B gene on chromosome 17q25.
http://purl.obolibrary.org/obo/DOID_0051013	pseudohypoparathyroidism type 1C	http://purl.obolibrary.org/obo/DOID_4184	pseudohypoparathyroidism		A pseudohypoparathyroidism that has_material_basis_in a heterozygous mutation on the maternal allele of the GNAS gene on chromosome 20q13.
http://purl.obolibrary.org/obo/DOID_0061015	female-restricted Wieacker-Wolff syndrome	http://purl.obolibrary.org/obo/DOID_0080009	X-linked dominant disease		A syndromic X-linked intellectual disability that has_material_basis_in heterozygous mutation in the ZC4H2 gene on chromosome Xq11.
http://purl.obolibrary.org/obo/DOID_0061016	combined or isolated pituitary growth hormone deficiency 7	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A combined pituitary hormone deficiency that has_material_basis_in compound heterozygous mutation in the RNPC3 gene on chromosome 1p21.
http://purl.obolibrary.org/obo/DOID_0061017	combined pituitary hormone deficiency 4	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the LHX4 gene on chromosome 1q25.
http://purl.obolibrary.org/obo/DOID_0061018	combined or isolated pituitary hormone deficiency 8	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the ROBO1 gene on chromosome 3p12.
http://purl.obolibrary.org/obo/DOID_0061019	combined or isolated pituitary hormone deficiency 1	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A combined pituitary hormone deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POU1F1 gene on chromosome 3p11.
http://purl.obolibrary.org/obo/DOID_0061020	combined pituitary hormone deficiency 2	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A combined pituitary hormone deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PROP1 gene on chromosome 5q35.
http://purl.obolibrary.org/obo/DOID_0061021	combined pituitary hormone deficiency 3	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A combined pituitary hormone deficiency that has_material_basis_in homozygous mutation in the LHX3 gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0061022	combined pituitary hormone deficiency 6	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q21.
http://purl.obolibrary.org/obo/DOID_0061024	nonphotosensitive trichothiodystrophy 9	http://purl.obolibrary.org/obo/DOID_0111867	nonphotosensitive trichothiodystrophy		A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in homozygous mutation in the MARS1 gene on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0061138	complex cortical dysplasia with other brain malformations 9	http://purl.obolibrary.org/obo/DOID_0090131	complex cortical dysplasia with other brain malformations		A complex cortical dysplasia with other brain malformations characterized by profoundly impaired motor and cognitive development apparent from early infancy that has_material_basis_in homozygous mutation in the CTNNA2 gene on chromosome 2p12.
http://purl.obolibrary.org/obo/DOID_0061226	primary ciliary dyskinesia 55	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia characterized by impairment of the function of the motile cilia of the airways, resulting in chronic respiratory tract infections and has_material_basis_in homozygous or compound heterozygous mutation in the CFAP221 gene on chromosome 2q14.
http://purl.obolibrary.org/obo/DOID_0061227	autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1	http://purl.obolibrary.org/obo/DOID_13945	CADASIL		A CADASIL characterized by the onset of neurologic symptoms in infancy or early childhood that has_material_basis_in homozygous or compound heterozygous mutations in the NOTCH3 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0061228	autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2	http://purl.obolibrary.org/obo/DOID_13945	CADASIL		A CADASIL characterized by alopecia, spondylosis, and progressive motor dysfunction and dementia. Onset is usually in the second or third decade that has_material_basis_in homozygous or compound heterozygous mutation in the HTRA1 gene on chromosome 10q26.
http://purl.obolibrary.org/obo/DOID_0061229	Camurati-Engelmann disease 1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An osteosclerosis characterized by the cortical thickening of the diaphyses of the long bones that has_material_basis_in domain-specific heterozygous mutations in the transforming growth factor-beta-1 gene (TGFB1) on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0061230	Camurati-Engelmann disease 2	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An osteosclerosis characterized by progressive diaphyseal dysplasia, associated with a waddling gait, muscle weakness, and severe leg pain that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41.
http://purl.obolibrary.org/obo/DOID_0061231	enhanced S-cone syndrome 1	http://purl.obolibrary.org/obo/DOID_0090059	enhanced S-cone syndrome		A retinal disease that is characterized by increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones and suffer visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear receptor gene NR2E3 on chromosome 15q23.
http://purl.obolibrary.org/obo/DOID_0061232	enhanced S-cone syndrome 2	http://purl.obolibrary.org/obo/DOID_0090059	enhanced S-cone syndrome		A retinal disease that is characterized by an increased number of cones in the retina, primarily those expressing S-cone opsins that has_material_basis_in compound heterozygous and homozygous mutation in the NRL gene on chromosome 14q11.
http://purl.obolibrary.org/obo/DOID_0061233	autosomal recessive brain small vessel disease 2B	http://purl.obolibrary.org/obo/DOID_0112313	brain small vessel disease		A brain small vessel disease characterized by the onset of neurologic abnormalities in infancy or the first years of life, including global developmental delay, impaired intellectual development with poor or absent speech, seizures, and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A2 gene on chromosome 13q34.
http://purl.obolibrary.org/obo/DOID_0061234	brain small vessel disease 4	http://purl.obolibrary.org/obo/DOID_0112313	brain small vessel disease		A brain small vessel disease characterized by schemic and/or hemorrhagic events in the brain that result in neurologic symptoms and deficits, progressive movement disorders, gait abnormalities, dysarthria, and cognitive decline that has_material_basis_in homozygous or compound heterozygous mutation in the NIT1 gene on chromosome 1q23.
http://purl.obolibrary.org/obo/DOID_0061235	brain small vessel disease 5 with osteoporosis	http://purl.obolibrary.org/obo/DOID_0112313	brain small vessel disease		A brain small vessel disease characterized by onset of neurologic symptoms in adulthood. Features include cognitive decline, psychiatric disturbances, osteoporosis with frequent fractures, and cerebral infarctions associated with brain imaging abnormalities, including lacunal infarcts, microbleeds, enlarged perivascular spaces, white matter abnormalities, and brain atrophy that has_material_basis_in heterozygous mutation in the ARHGEF15 gene on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0061236	brain small vessel disease 6 with leukoencephalopathy	http://purl.obolibrary.org/obo/DOID_0112313	brain small vessel disease		A brain small vessel disease characterized by central nervous system manifestations, including migraine, stroke, transient movement disorders, gait disturbance, and progressive cognitive decline that has_material_basis_in heterozygous mutation in the CTSA gene on chromosome 20q13.
http://purl.obolibrary.org/obo/DOID_0051067	Fontaine progeroid syndrome	http://purl.obolibrary.org/obo/DOID_0081332	progeroid syndrome		A progeroid syndrome that is characterized by poor growth, abnormal skeletal features, and distinctive craniofacial features with sagging, thin skin, and decreased subcutaneous fat suggesting an aged appearance that is most pronounced in infancy and improves with time and that has_material_basis_in heterozygous mutation in the SLC25A24 gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0051068	early-onset obesity, adrenal insufficiency, and red hair	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism and that has_material_basis_in homozygous or compound heterozygous mutation in the POMC gene on chromosome 2p23.
http://purl.obolibrary.org/obo/DOID_0051069	Meier-Gorlin syndrome 9	http://purl.obolibrary.org/obo/DOID_0060306	Meier-Gorlin syndrome		A Meier-Gorlin syndrome that is characterized by short stature, microtia, and patellar hypoplasia or absence and that has_material_basis_in homozygous or compound heterozygous mutation in the GINS3 gene on chromosome 16q21.
http://purl.obolibrary.org/obo/DOID_0051070	Meier-Gorlin syndrome 10	http://purl.obolibrary.org/obo/DOID_0060306	Meier-Gorlin syndrome		A Meier-Gorlin syndrome that is characterized by intrauterine growth retardation, short stature with proportionate microcephaly, microtia, and absent or hypoplastic patellae and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21q22.
http://purl.obolibrary.org/obo/DOID_0051071	neurodevelopmental disorder with seizures and impaired intellectual and language development	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that is characterized by intellectual disability, developmental delay, seizures, hypotonia, microcephaly, and dysmorphic features and that has_material_basis_in homozygous or compound heterozygous mutation in the JKAMP gene on chromosome 14q23.
http://purl.obolibrary.org/obo/DOID_0051072	neurodegenerative disorder with cerebellar and caudate atrophy	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that is characterized by neurodegenerative features, including progressive ataxia, cognitive decline, and neuropathy, and a distinctive neuroradiologic phenotype with cerebellar and caudate atrophy and basal ganglia signal abnormalities and that has_material_basis_in heterozygous complex chromosome 16p13.3 rearrangement comprising a duplication with an embedded triplication involving at least the ATP6V0C gene.
http://purl.obolibrary.org/obo/DOID_0051073	dilated cardiomyopathy 3C	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that is characterized by severe arrhythmogenic dilated cardiomyopathy (DCM) with onset as young as the teen years but usually in the third to fifth decades of life and that has_material_basis_in mutation in the gene encoding emerin (EMD) on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0051074	primary autosomal recessive microcephaly 31	http://purl.obolibrary.org/obo/DOID_0070296	autosomal recessive primary microcephaly		A primary autosomal recessive microcephaly that is characterized by progressive small head circumference and poor overall postnatal growth and that has_material_basis_in homozygous mutation in the CDK4 gene on chromosome 12q14.
http://purl.obolibrary.org/obo/DOID_0051075	aggressive periodontitis 2	http://purl.obolibrary.org/obo/DOID_1474	aggressive periodontitis		An aggressive periodontitis that has_material_basis_in a locus is situated between D1S196 and D1S533 on chromosome 1q25.
http://purl.obolibrary.org/obo/DOID_0051076	neurodevelopmental disorder with parkinsonism or other movement abnormalities	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that is characterized by mild to severe developmental delay or intellectual disability and movement abnormalities including spasticity, early onset-parkinsonism with dystonia, myoclonus, or a combination of these and that has_material_basis_in homozygous or compound heterozygous mutation in the EPG5 gene on chromosome 18q12-q21.
http://purl.obolibrary.org/obo/DOID_0051077	diethylstilbestrol syndrome	http://purl.obolibrary.org/obo/DOID_15	reproductive system disease		A reproductive system disease that is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women, in offspring or grandchildren of women exposed to diethylstilbestrol (DES) during pregnancy.
http://purl.obolibrary.org/obo/DOID_0061247	familial hyperaldosteronism	http://purl.obolibrary.org/obo/DOID_446	primary hyperaldosteronism		A primary hyperaldosteronism characterized by florid clinical and biochemical phenotypes.
http://purl.obolibrary.org/obo/DOID_0061248	familial hyperaldosteronism III	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A familial hyperaldosteronism characterized by hypertension secondary to massive adrenal mineralocorticoid production that has_material_basis_in heterozygous mutation in the KCNJ5 gene on chromosome 11q24.
http://purl.obolibrary.org/obo/DOID_0061249	familial hyperaldosteronism II	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A familial hyperaldosteronism characterized by hypertension due to increased aldosterone, often with hypokalemia that has_material_basis_in heterozygous mutation in the CLCN2 gene on chromosome 3q27.
http://purl.obolibrary.org/obo/DOID_0061250	familial hyperaldosteronism IV	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A familial hyperaldosteronism that has_material_basis_in heterozygous mutation in the CACNA1H gene on chromosome 16p13.
http://purl.obolibrary.org/obo/DOID_0061251	Charcot-Marie-Tooth disease type 2KK	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Charcot-Marie-Tooth disease type 2 characterized by motor nerves in the lower limbs, leading to gait difficulties with foot drop, increased falls, muscle atrophy of the lower limbs, and areflexia that has_material_basis_in homozygous mutation in the ARHGAP19 gene on chromosome 10q24.
http://purl.obolibrary.org/obo/DOID_0061252	neurodevelopmental disorder with hypotonia, epilepsy, and absent speech	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder characterized by infantile hypotonia, profoundly impaired motor and cognitive development, absent speech, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the UNC13A gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0061253	neurodevelopmental disorder with speech delay, movement abnormalities, and seizures	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder characterized by motor delay with mildly delayed walking, variably impaired intellectual development with poor or absent speech, behavioral abnormalities, early-onset seizures, and movement abnormalities, including tremor, ataxia, and dyskinesias that has_material_basis_in heterozygous mutation in the UNC13A gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0061254	intellectual developmental disorder with seizures and dysmorphic facies	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder characterized by mildly impaired intellectual development, learning difficulties, and early-onset seizures that are well controlled by medication that has_material_basis_in heterozygous mutation in the UNC13A gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0061255	spondylocostal dysostosis 7	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A spondylocostal dysostosis characterized by severe rib and vertebral malformations, which may result in lethal respiratory compromise that has_material_basis_in homozygous mutation in the DMRT2 gene on chromosome 9p24.
http://purl.obolibrary.org/obo/DOID_0061256	congenital myopathy 25	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy characterized by prominent facial, ocular, and bulbar features that has_material_basis_in homozygous mutation in the JPH1 gene on chromosome 8q21.
http://purl.obolibrary.org/obo/DOID_0061257	congenital myopathy 26	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy characterized by limb muscle weakness and mild motor delay apparent from infancy that has_material_basis_in heterozygous mutation in the TUBA4A gene on chromosome 2q35.
http://purl.obolibrary.org/obo/DOID_0061258	congenital myopathy 27	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy characterized by exercise intolerance and early fatigue that has_material_basis_in homozygous or compound heterozygous mutation in the PACSIN3 gene on chromosome 11p11.
http://purl.obolibrary.org/obo/DOID_0061259	congenital myopathy 28	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy characterized by exercise intolerance and early fatigue that has_material_basis_in homozygous or compound heterozygous mutation in the 3-hydroxy-3-methylglutaryl-CoA synthase 1 gene on chromosome 5p12.
http://purl.obolibrary.org/obo/DOID_0061260	congenital myopathy 29	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy characterized by hypotonia, distal joint contractures, and early respiratory and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the dystonin gene on chromosome 6p12.
http://purl.obolibrary.org/obo/DOID_0061261	lethal congenital contracture syndrome 5	http://purl.obolibrary.org/obo/DOID_0060558	lethal congenital contracture syndrome		A lethal congenital contracture syndrome characterized by decreased fetal movements, joint contractures, hypotonia, skeletal abnormalities with thin bones, and brain and retinal hemorrhages that has_material_basis_in homozygous mutation in the DNM2 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0061262	lethal congenital contracture syndrome 6	http://purl.obolibrary.org/obo/DOID_0060558	lethal congenital contracture syndrome		A lethal congenital contracture syndrome characterized by multiple flexion and extension contractures resulting from lack of fetal movements, severe polyhydramnios, and absent stomach that has_material_basis_in homozygous mutation in the ZBTB42 gene on chromosome 14q32.
http://purl.obolibrary.org/obo/DOID_0061263	lethal congenital contracture syndrome 7	http://purl.obolibrary.org/obo/DOID_0060558	lethal congenital contracture syndrome		A lethal congenital contracture syndrome characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period that has_material_basis_in homozygous mutation in the CNTNAP1 gene on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0061264	lethal congenital contracture syndrome 8	http://purl.obolibrary.org/obo/DOID_0060558	lethal congenital contracture syndrome		A lethal congenital contracture syndrome characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period that has_material_basis_in homozygous or compound heterozygous mutation in the ADCY6 gene on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0061265	lethal congenital contracture syndrome 9	http://purl.obolibrary.org/obo/DOID_0060558	lethal congenital contracture syndrome		A lethal congenital contracture syndrome characterized by multiple flexion and extension contractures resulting from reduced or absent fetal movement that has_material_basis_in homozygous mutation in the GPR126 gene on chromosome 6q24.
http://purl.obolibrary.org/obo/DOID_0061266	lethal congenital contracture syndrome 10	http://purl.obolibrary.org/obo/DOID_0060558	lethal congenital contracture syndrome		A lethal congenital contracture syndrome characterized by fetal akinesia, multiple contractures, shortening of upper and lower limbs, and narrow chest and thorax that has_material_basis_in homozygous mutation in the NEK9 gene on chromosome 14q24.
http://purl.obolibrary.org/obo/DOID_0061267	lethal congenital contracture syndrome 11	http://purl.obolibrary.org/obo/DOID_0060558	lethal congenital contracture syndrome		A lethal congenital contracture syndrome characterized by multiple flexion and extension joint contractures resulting from reduced or absent fetal movements that has_material_basis_in homozygous or compound heterozygous mutation in the GLDN gene on chromosome 15q21.
http://purl.obolibrary.org/obo/DOID_0061268	lethal congenital contracture syndrome 12	http://purl.obolibrary.org/obo/DOID_0060558	lethal congenital contracture syndrome		A lethal congenital contracture syndrome characterized by onset in utero that results in death in utero or during the perinatal period unless there is significant medical intervention, including mechanical ventilation and parenteral/ tube-feeding; however these patients also die in infancy or in the first years of life that has_material_basis_in homozygous mutation in the dystonin gene on chromosome 6p12.
http://purl.obolibrary.org/obo/DOID_0061269	periventricular nodular heterotopia 6	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A periventricular nodular heterotopia that has_material_basis_in heterozygous mutation in the ERMARD gene on chromosome 6q27.
http://purl.obolibrary.org/obo/DOID_0061270	periventricular nodular heterotopia 7	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A periventricular nodular heterotopia characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients develop seizures that has_material_basis_in heterozygous mutation in the NEDD4L gene on chromosome 18q21.
http://purl.obolibrary.org/obo/DOID_0061273	Weill-Marchesani syndrome 1	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Weill-Marchesani syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTS10 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0061274	Weill-Marchesani syndrome 2	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Weill-Marchesani syndrome that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.
http://purl.obolibrary.org/obo/DOID_0061275	Weill-Marchesani syndrome 3	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Weill-Marchesani syndrome that has_material_basis_in homozygous mutation in the LTBP2 gene on chromosome 14q24.
http://purl.obolibrary.org/obo/DOID_0061276	Weill-Marchesani syndrome 4	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Weill-Marchesani syndrome that has_material_basis_in homozygous mutation in the ADAMTS17 gene on chromosome 15q26.
http://purl.obolibrary.org/obo/DOID_0061277	Senior-Loken syndrome 1	http://purl.obolibrary.org/obo/DOID_0050576	Senior-Loken syndrome		A Senior-Loken syndrome that has_material_basis_in homozygous mutation in the NPHP1 gene on chromosome 2q13.
http://purl.obolibrary.org/obo/DOID_0061278	Senior-Loken syndrome 4	http://purl.obolibrary.org/obo/DOID_0050576	Senior-Loken syndrome		A Senior-Loken syndrome characterized by the association of the cystic renal disorder nephronophthisis with early-onset retinitis pigmentosa and that has_material_basis_in homozygous mutation in the NPHP4 gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0061279	Senior-Loken syndrome 5	http://purl.obolibrary.org/obo/DOID_0050576	Senior-Loken syndrome		A Senior-Loken syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the IQCB1 gene on chromosome 3q13.
http://purl.obolibrary.org/obo/DOID_0061280	Senior-Loken syndrome 6	http://purl.obolibrary.org/obo/DOID_0050576	Senior-Loken syndrome		A Senior-Loken syndrome characterized by the association of nephronophthisis resulting in end-stage renal disease in the second decade of life with retinal degeneration that has_material_basis_in homozygous mutation in the NPHP6 gene on chromosome 12q21.
http://purl.obolibrary.org/obo/DOID_0061281	Senior-Loken syndrome 7	http://purl.obolibrary.org/obo/DOID_0050576	Senior-Loken syndrome		A Senior-Loken syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the SDCCAG8 gene on chromosome 1q43.
http://purl.obolibrary.org/obo/DOID_0061282	Senior-Loken syndrome 8	http://purl.obolibrary.org/obo/DOID_0050576	Senior-Loken syndrome		A Senior-Loken syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14.
http://purl.obolibrary.org/obo/DOID_0061283	Senior-Loken syndrome 9	http://purl.obolibrary.org/obo/DOID_0050576	Senior-Loken syndrome		A Senior-Loken syndrome characterized by early-onset nephronophthisis and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the TRAF3IP1 gene on chromosome 2q37.
http://purl.obolibrary.org/obo/DOID_0070669	autosomal recessive nonsyndromic deafness 122	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness characterized by postnatal onset of sensorineural hearing loss, affecting high frequencies first and progressing to deficits in all frequencies, that results in deafness by the second or third decade and has_material_basis_in compound heterozygous mutation in the TMTC4 gene on chromosome 13q32.
http://purl.obolibrary.org/obo/DOID_0070670	autosomal recessive nonsyndromic deafness 123	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness characterized by bilateral severe to profound hearing impairment with onset as early as the first decade of life that has_material_basis_in homozygous mutation in the STX4 gene on chromosome 16p11.
http://purl.obolibrary.org/obo/DOID_0070671	autosomal recessive nonsyndromic deafness 117	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness characterized by bilateral moderate-to-profound sensorineural deafness with onset in early childhood that has_material_basis_in homozygous mutation in the CLRN2 gene on chromosome 4p15.
http://purl.obolibrary.org/obo/DOID_0070672	autosomal recessive nonsyndromic deafness 118	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss and cochlear aplasia that has_material_basis_in homozygous 200-kb deletion of a region downstream of the GDF6 gene on chromosome 8q22 resulting in its misexpression.
http://purl.obolibrary.org/obo/DOID_0070673	autosomal recessive nonsyndromic deafness 119	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness characterized by mild to profound sensorineural hearing loss that has_material_basis_in compound heterozygous mutation in the AFG2B gene on chromosome 15q21.
http://purl.obolibrary.org/obo/DOID_0070674	autosomal recessive nonsyndromic deafness 120	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness characterized by congenital or prelingual onset of severe to profound sensorineural hearing loss that has_material_basis_in homozygous mutation in the MINAR2 gene on chromosome 5q23.
http://purl.obolibrary.org/obo/DOID_0070675	autosomal recessive nonsyndromic deafness 121	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness characterized by congenital or prelingual moderate sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GPR156 gene on chromosome 3q13.
http://purl.obolibrary.org/obo/DOID_0070676	autosomal recessive nonsyndromic deafness 124	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness characterized by congenital progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PKHD1L1 gene on chromosome 8q23.
http://purl.obolibrary.org/obo/DOID_0070677	Ferguson-Bonni neurodevelopmental syndrome	http://purl.obolibrary.org/obo/DOID_0050888	syndromic intellectual disability		A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and hypotonia with early motor delay that has_material_basis_in homozygous mutation in the ANAPC7 gene on chromosome 12q24.
http://purl.obolibrary.org/obo/DOID_0070678	congenital hypomyelinating neuropathy	http://purl.obolibrary.org/obo/DOID_440	neuromuscular disease		A neuromuscular disease characterized by fetal to infantile onset of hypotonia, areflexia, distal muscle weakness, very slow nerve conduction velocities, and delayed motor development resulting from impaired myelin formation with minimal or no evidence of demyelination.
http://purl.obolibrary.org/obo/DOID_0070679	congenital hypomyelinating neuropathy 2	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A congenital hypomyelinating neuropathy that has_material_basis_in heterozygous mutation in the MPZ gene on chromosome 1q23.
http://purl.obolibrary.org/obo/DOID_0070680	congenital hypomyelinating neuropathy 3	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital hypomyelinating neuropathy characterized by polyhydramnios, severe hypotonia, profoundly impaired psychomotor development, severely decreased nerve conduction properties, hypomyelination, and cerebral and cerebellar atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the CNTNAP1 gene on chromosome 17q21. Contractures may also manifest.
http://purl.obolibrary.org/obo/SYMP_0000523	anorexia	http://purl.obolibrary.org/obo/SYMP_0000473	nutrition, metabolism, and development symptom		A nutrition, metabolism, and development symptom that is characterized by a loss of appetite especially when prolonged.
http://purl.obolibrary.org/obo/SYMP_0000610	dizziness	http://purl.obolibrary.org/obo/SYMP_0020045	balance symptom		A  balance symptom that is characterized by a sensation of unsteadiness accompanied by a feeling of movement within the head.
http://purl.obolibrary.org/obo/SYMP_0000731	renal failure	http://purl.obolibrary.org/obo/SYMP_0000486	urinary system symptom		A urinary system symptom that is characterized by a loss of excretory function in one or both kidneys, leading to retention of nitrogenous waste products from the blood.
http://purl.obolibrary.org/obo/SYMP_0019175	sweaty	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by the excretion of moisture in visible quantities through the opening of the sweat glands.
http://purl.obolibrary.org/obo/SYMP_0000092	skin lesion	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by an abnormal change in structure of the skin that is especially circumscribed and well defined due to injury or disease.
http://purl.obolibrary.org/obo/SYMP_0000369	ptosis	http://purl.obolibrary.org/obo/SYMP_0000567	general symptom		Ptosis is a general symptom characterized by a sagging or prolapse of an organ or part.
http://purl.obolibrary.org/obo/SYMP_0000016	confusion	http://purl.obolibrary.org/obo/SYMP_0020045	balance symptom		A balance symptom that is characterized by a disturbance of consciousness characterized by inability to engage in orderly thought or by lack of power to distinguish, choose, or act decisively.
http://purl.obolibrary.org/obo/SYMP_0000866	cervical edema	http://purl.obolibrary.org/obo/SYMP_0000384	neck symptom		Cervical edema is a neck symptom characterized by an abnormal excess accumulation of serous fluid in the soft tissue of the cervical area.
http://purl.obolibrary.org/obo/SYMP_0000318	loss of balance	http://purl.obolibrary.org/obo/SYMP_0020045	balance symptom		A  balance symptom that is characterized by an inability to stay upright and move confidently.  Loss of balance may be due to problems in the inner ear, the brain, or the heart. Aging, infections, head injury, certain medicines, and problems with blood circulation may also cause balance problems.
http://purl.obolibrary.org/obo/SYMP_0000842	active hyperemia	http://purl.obolibrary.org/obo/SYMP_0000299	hyperemia		Active hyperemia is a hyperemia occurring due to the dilation of arteriolar smooth muscle to increase blood flow in response to an increase in metabolism.
http://purl.obolibrary.org/obo/TRANS_0000003	mechanical transmission	http://purl.obolibrary.org/obo/TRANS_0000005	vector-borne transmission		Mechanical transmission is an indirect vector-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by being transported on the external surface of the vector.
http://purl.obolibrary.org/obo/TRANS_0000014	vector-borne bite transmission	http://purl.obolibrary.org/obo/TRANS_0000005	vector-borne transmission		Vector-borne bite transmission is an indirect vector-borne transmission during which the pathogen is indirectly transferred by insect bites from a reservoir, source or host via a vector to another host.
http://purl.obolibrary.org/obo/TRANS_0000020	insect borne transmission	http://purl.obolibrary.org/obo/TRANS_0000019	arthropod borne transmission		Insect borne transmission is an arthropod vector-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an intermediary insect vector such as a flea or mosquito to another host.
http://purl.obolibrary.org/obo/TRANS_0000021	mosquito borne transmission	http://purl.obolibrary.org/obo/TRANS_0000020	insect borne transmission		Mosquito borne transmission is an insect borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an intermediary mosquito vector to another host.
http://purl.obolibrary.org/obo/TRANS_0000022	Anopheles gambiae borne transmission	http://purl.obolibrary.org/obo/TRANS_0000021	mosquito borne transmission		Anopheles gambiae borne transmission is a mosquito borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an intermediary mosquito vector of the species Anopheles gambiae to another host.
http://purl.obolibrary.org/obo/TRANS_0000023	flea borne transmission	http://purl.obolibrary.org/obo/TRANS_0000020	insect borne transmission		Flea borne transmission is an insect borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an intermediary flea vector to another host.
http://purl.obolibrary.org/obo/TRANS_0000024	tick borne transmission	http://purl.obolibrary.org/obo/TRANS_0000027	arachnid borne transmission		Tick borne transmission is an arachnid borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an intermediary tick vector to another host.
http://purl.obolibrary.org/obo/TRANS_0000026	Dracunculus medinensis borne transmission	http://purl.obolibrary.org/obo/TRANS_0000025	copepod borne transmission		Dracunculus medinensis borne transmission is a copepod borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an animate intermediary copepod vector of the species Dracunculus medinensis to another host.
http://purl.obolibrary.org/obo/DOID_0080183	medullary colon carcinoma	http://purl.obolibrary.org/obo/DOID_1520	colon carcinoma		A colon carcinoma that is characterized by a solid growth pattern.
http://purl.obolibrary.org/obo/NCIT_C13234	Feces	http://purl.obolibrary.org/obo/ENVO_00002003	fecal material		The material discharged from the bowel during defecation. It consists of undigested food, intestinal mucus, epithelial cells, and bacteria.
http://purl.obolibrary.org/obo/NCIT_C81304	Blood Product	http://purl.obolibrary.org/obo/DISDRIV_0000003	biological driver		Any natural or synthetic composition that replicates the structure or function of a native component of blood.
http://purl.obolibrary.org/obo/NCIT_C594	Iodine	http://purl.obolibrary.org/obo/CHEBI_33284	nutrient		An element that is necessary for the body to make thyroid hormone. It is found in shellfish and iodized salt.
http://purl.obolibrary.org/obo/DOID_0040001	shrimp allergy	http://purl.obolibrary.org/obo/DOID_0060524	crustacean allergy		A crustacean allergy that has_allergic_trigger shrimp.
http://purl.obolibrary.org/obo/DOID_0040002	aspirin allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger acetylsalicylic acid.
http://purl.obolibrary.org/obo/DOID_0040003	benzylpenicillin allergy	http://purl.obolibrary.org/obo/DOID_0060519	beta-lactam allergy		A beta-lactam allergy that has_allergic_trigger benzylpenicillin.
http://purl.obolibrary.org/obo/DOID_0040004	amoxicillin allergy	http://purl.obolibrary.org/obo/DOID_0060519	beta-lactam allergy		A beta-lactam allergy that has_allergic_trigger amoxicillin.
http://purl.obolibrary.org/obo/DOID_0040005	ceftriaxone allergy	http://purl.obolibrary.org/obo/DOID_0040021	cephalosporin allergy		A cephalosporin allergy that has_allergic_trigger ceftriaxone.
http://purl.obolibrary.org/obo/DOID_0040006	carbamazepine allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger carbamazepine.
http://purl.obolibrary.org/obo/DOID_0040007	abacavir allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger abacavir.
http://purl.obolibrary.org/obo/DOID_0040008	isoniazide allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger isoniazide.
http://purl.obolibrary.org/obo/DOID_0040009	lidocaine allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger lidocaine.
http://purl.obolibrary.org/obo/DOID_0040010	mepivacaine allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger mepivacaine.
http://purl.obolibrary.org/obo/DOID_0040011	phenobarbital allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger phenobarbital.
http://purl.obolibrary.org/obo/DOID_0040012	phenytoin allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger phenytoin.
http://purl.obolibrary.org/obo/DOID_0040013	ranitidine allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger ranitidine.
http://purl.obolibrary.org/obo/DOID_0040014	corticosteroid allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger corticosteroid.
http://purl.obolibrary.org/obo/DOID_0040015	sulfonamide allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger sulfonamide.
http://purl.obolibrary.org/obo/DOID_0040016	sulfamethoxazole allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger sulfamethoxazole.
http://purl.obolibrary.org/obo/DOID_0040017	suprofen allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger suprofen.
http://purl.obolibrary.org/obo/DOID_0040018	thiopental allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger thiopental.
http://purl.obolibrary.org/obo/DOID_0040019	D-mannitol allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger D-mannitol.
http://purl.obolibrary.org/obo/DOID_0040020	cefotaxime allergy	http://purl.obolibrary.org/obo/DOID_0040021	cephalosporin allergy		A cephalosporin allergy that has_allergic_trigger cefotaxime.
http://purl.obolibrary.org/obo/DOID_0040021	cephalosporin allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger cephalosporin.
http://purl.obolibrary.org/obo/DOID_0040022	amodiaquine allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger amodiaquine.
http://purl.obolibrary.org/obo/DOID_0040023	cefaclor allergy	http://purl.obolibrary.org/obo/DOID_0040021	cephalosporin allergy		A cephalosporin allergy that has_allergic_trigger cefaclor.
http://purl.obolibrary.org/obo/DOID_0040024	ceftazidime allergy	http://purl.obolibrary.org/obo/DOID_0040021	cephalosporin allergy		A cephalosporin allergy that has_allergic_trigger ceftazidime.
http://purl.obolibrary.org/obo/DOID_0040025	cefuroxime allergy	http://purl.obolibrary.org/obo/DOID_0040021	cephalosporin allergy		A cephalosporin allergy that has_allergic_trigger cefuroxime.
http://purl.obolibrary.org/obo/DOID_0040026	chlorhexidine allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger chlorhexidine.
http://purl.obolibrary.org/obo/DOID_0040027	cyclophosphamide allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger cyclophosphamide.
http://purl.obolibrary.org/obo/DOID_0040028	succinylcholine allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger succinylcholine.
http://purl.obolibrary.org/obo/DOID_0040029	trimethoprim allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger trimethoprim.
http://purl.obolibrary.org/obo/DOID_0040030	cefixime allergy	http://purl.obolibrary.org/obo/DOID_0040021	cephalosporin allergy		A cephalosporin allergy that has_allergic_trigger cefixime.
http://purl.obolibrary.org/obo/DOID_0040031	diclofenac allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger diclofenac.
http://purl.obolibrary.org/obo/DOID_0040032	carbapenem allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger carbapenems.
http://purl.obolibrary.org/obo/DOID_0040033	piperacillin allergy	http://purl.obolibrary.org/obo/DOID_0060519	beta-lactam allergy		A beta-lactam allergy that has_allergic_trigger piperacillin.
http://purl.obolibrary.org/obo/DOID_0040034	rocuronium allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger rocuronium.
http://purl.obolibrary.org/obo/DOID_0040035	sulfasalazine allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger sulfasalazine.
http://purl.obolibrary.org/obo/DOID_0040036	tubocurarine allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger tubocurarine.
http://purl.obolibrary.org/obo/DOID_0040037	aztreonam allergy	http://purl.obolibrary.org/obo/DOID_0060519	beta-lactam allergy		A beta-lactam allergy that has_allergic_trigger aztreonam.
http://purl.obolibrary.org/obo/DOID_0040038	meropenem allergy	http://purl.obolibrary.org/obo/DOID_9415	allergic asthma		An allergic asthma that has_allergic_trigger meropenem, a beta-lactam antibiotic.
http://purl.obolibrary.org/obo/DOID_0040040	hexamethylene diisocyanate allergic asthma	http://purl.obolibrary.org/obo/DOID_0040041	isocyanates allergic asthma		An isocyanates allergic asthma that has_allergic_trigger hexamethylene diisocyanate.
http://purl.obolibrary.org/obo/DOID_0040041	isocyanates allergic asthma	http://purl.obolibrary.org/obo/DOID_9415	allergic asthma		An allergic asthma that has_allergic_trigger isocyanates.
http://purl.obolibrary.org/obo/DOID_0040042	diphenylmethane-4,4'-diisocyanate allergic asthma	http://purl.obolibrary.org/obo/DOID_0040041	isocyanates allergic asthma		An isocyanates allergic asthma that has_allergic_trigger diphenylmethane-4,4-diisocyanate.
http://purl.obolibrary.org/obo/DOID_0040043	toluene meta-diisocyanate allergic asthma	http://purl.obolibrary.org/obo/DOID_0040041	isocyanates allergic asthma		An isocyanates allergic asthma that has_allergic_trigger toluene meta-diisocyanate.
http://purl.obolibrary.org/obo/DOID_0040044	methyl isocyanate allergic asthma	http://purl.obolibrary.org/obo/DOID_0040041	isocyanates allergic asthma		An isocyanates allergic asthma that has_allergic_trigger methyl isocyanate.
http://purl.obolibrary.org/obo/DOID_0040045	nickel allergic asthma	http://purl.obolibrary.org/obo/DOID_0060501	metal allergy		An allergic asthma that has_allergic_trigger nickel atom.
http://purl.obolibrary.org/obo/DOID_0040046	nickel allergic contact dermatitis	http://purl.obolibrary.org/obo/DOID_0060501	metal allergy		An allergic contact dermatitis that has_allergic_trigger nickel atom.
http://purl.obolibrary.org/obo/DOID_0040047	trimellitic anhydride allergic asthma	http://purl.obolibrary.org/obo/DOID_9415	allergic asthma		An allergic asthma that has_allergic_trigger trimellitic anhydride.
http://purl.obolibrary.org/obo/DOID_0040048	phthalic anhydride allergic asthma	http://purl.obolibrary.org/obo/DOID_9415	allergic asthma		An allergic asthma that has_allergic_trigger phthalic anhydride.
http://purl.obolibrary.org/obo/DOID_0040049	maleic anhydride allergic asthma	http://purl.obolibrary.org/obo/DOID_9415	allergic asthma		An allergic asthma that has_allergic_trigger maleic anhydride.
http://purl.obolibrary.org/obo/DOID_0040050	tetrachlorophthalic anhydride allergic asthma	http://purl.obolibrary.org/obo/DOID_9415	allergic asthma		An allergic asthma that has_allergic_trigger tetrachlorophthalic anhydride.
http://purl.obolibrary.org/obo/DOID_0040051	hexahydrophthalic anhydride allergic asthma	http://purl.obolibrary.org/obo/DOID_9415	allergic asthma		An allergic asthma that has_allergic_trigger hexahydrophthalic anhydride.
http://purl.obolibrary.org/obo/DOID_0040052	diphenylmethane-4,4'-diisocyanate allergic contact dermatitis	http://purl.obolibrary.org/obo/DOID_3042	allergic contact dermatitis		An allergic contact dermatitis that has_allergic_trigger diphenylmethane-4,4-diisocyanate.
http://purl.obolibrary.org/obo/DOID_0040053	cobalt allergic contact dermatitis	http://purl.obolibrary.org/obo/DOID_0060501	metal allergy		An allergic contact dermatitis that has_allergic_trigger cobalt atom.
http://purl.obolibrary.org/obo/DOID_0040054	cobalt allergic asthma	http://purl.obolibrary.org/obo/DOID_0060501	metal allergy		An allergic asthma that has_allergic_trigger cobalt atom.
http://purl.obolibrary.org/obo/DOID_0040055	palladium allergic contact dermatitis	http://purl.obolibrary.org/obo/DOID_0060501	metal allergy		An allergic contact dermatitis that has_allergic_trigger palladium.
http://purl.obolibrary.org/obo/DOID_0040056	chromium allergic contact dermatitis	http://purl.obolibrary.org/obo/DOID_0060501	metal allergy		An allergic contact dermatitis that has_allergic_trigger chromium atom.
http://purl.obolibrary.org/obo/DOID_0040057	benzoic acid allergic contact dermatitis	http://purl.obolibrary.org/obo/DOID_3042	allergic contact dermatitis		An allergic contact dermatitis that has_allergic_trigger benzoic acid.
http://purl.obolibrary.org/obo/DOID_0040058	1,4-phenylenediamine allergic contact dermatitis	http://purl.obolibrary.org/obo/DOID_3042	allergic contact dermatitis		An allergic contact dermatitis that has_allergic_trigger 1,4-phenylenediamine.
http://purl.obolibrary.org/obo/DOID_0040059	potassium dichromate allergic contact dermatitis	http://purl.obolibrary.org/obo/DOID_3042	allergic contact dermatitis		An allergic contact dermatitis that has_allergic_trigger potassium dichromate.
http://purl.obolibrary.org/obo/DOID_0040060	ketoprofen photoallergic dermatitis	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A photoallergic dermatitis that has_allergic_trigger ketoprofen.
http://purl.obolibrary.org/obo/DOID_0040061	remazole black respiratory allergy	http://purl.obolibrary.org/obo/DOID_0060496	respiratory allergy		A respiratory allergy that has_allergic_trigger remazole black-GR.
http://purl.obolibrary.org/obo/DOID_0040062	chloramine T respiratory allergy	http://purl.obolibrary.org/obo/DOID_0060496	respiratory allergy		A respiratory allergy that has_allergic_trigger chloramine T.
http://purl.obolibrary.org/obo/DOID_0040063	4-vinylcyclohexene dioxide respiratory allergy	http://purl.obolibrary.org/obo/DOID_0060496	respiratory allergy		A respiratory allergy that has_allergic_trigger 4-vinylcyclohexene dioxide.
http://purl.obolibrary.org/obo/DOID_0040064	carvone allergic contact dermatitis	http://purl.obolibrary.org/obo/DOID_3042	allergic contact dermatitis		An allergic contact dermatitis that has_allergic_trigger (-)-carvone.
http://purl.obolibrary.org/obo/DOID_0040065	quinidine allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger quinidine.
http://purl.obolibrary.org/obo/DOID_0040066	melphalan allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger melphalan.
http://purl.obolibrary.org/obo/DOID_0040067	neomycin sulfate allergic contact dermatitis	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		An allergic contact dermatitis that has_allergic_trigger neomycin sulfate.
http://purl.obolibrary.org/obo/DOID_0040068	4-tert-butylphenol allergic contact dermatitis	http://purl.obolibrary.org/obo/DOID_3042	allergic contact dermatitis		An allergic contact dermatitis that has_allergic_trigger 4-tert-butylphenol.
http://purl.obolibrary.org/obo/DOID_0040069	1-chloro-2,4-dinitrobenzene allergic contact dermatitis	http://purl.obolibrary.org/obo/DOID_3042	allergic contact dermatitis		An allergic contact dermatitis that has_allergic_trigger 1-chloro-2,4-dinitrobenzene.
http://purl.obolibrary.org/obo/DOID_0040070	co-trimoxazole allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger co-trimoxazole.
http://purl.obolibrary.org/obo/DOID_0040071	sodium aurothiomalate allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger sodium aurothiomalate.
http://purl.obolibrary.org/obo/DOID_0040072	parthenolide allergic contact dermatitis	http://purl.obolibrary.org/obo/DOID_3042	allergic contact dermatitis		An allergic contact dermatitis that has_allergic_trigger parthenolide.
http://purl.obolibrary.org/obo/DOID_0040073	disodium cromoglycate allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger disodium cromoglycate.
http://purl.obolibrary.org/obo/DOID_0040074	formaldehyde allergic contact dermatitis	http://purl.obolibrary.org/obo/DOID_3042	allergic contact dermatitis		An allergic contact dermatitis that has_allergic_trigger formaldehyde.
http://purl.obolibrary.org/obo/DOID_0040075	benzo[d]isothiazol-3-one allergic contact dermatitis	http://purl.obolibrary.org/obo/DOID_3042	allergic contact dermatitis		An allergic contact dermatitis that has_allergic_trigger benzo[d]isothiazol-3-one.
http://purl.obolibrary.org/obo/DOID_0040076	phthalyl group allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger phthalyl group.
http://purl.obolibrary.org/obo/DOID_0040077	alcuronium bromide allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger alcuronium bromide.
http://purl.obolibrary.org/obo/DOID_0040078	gallamine allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger gallamine.
http://purl.obolibrary.org/obo/DOID_0040079	2,4-dinitrophenyl allergic contact dermatitis	http://purl.obolibrary.org/obo/DOID_3042	allergic contact dermatitis		An allergic contact dermatitis that has_allergic_trigger 2,4-dinitrophenyl group.
http://purl.obolibrary.org/obo/DOID_0040080	patent blue V allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger patent blue V.
http://purl.obolibrary.org/obo/DOID_0040081	acid anhydride respiratory allergy	http://purl.obolibrary.org/obo/DOID_0060496	respiratory allergy		A respiratory allergy that has_allergic_trigger acid anhydride.
http://purl.obolibrary.org/obo/DOID_0040082	oxirane allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy that has_allergic_trigger oxirane.
http://purl.obolibrary.org/obo/DOID_0040083	Chlamydia pneumonia	http://purl.obolibrary.org/obo/DOID_874	bacterial pneumonia		A bacterial pneumonia has_material_basis_in Chlamydia pneumoniae.
http://purl.obolibrary.org/obo/DOID_0040084	Streptococcus pneumonia	http://purl.obolibrary.org/obo/DOID_874	bacterial pneumonia		A bacterial pneumonia has_material_basis_in Streptococcus pneumoniae.
http://purl.obolibrary.org/obo/DOID_0040085	bacterial sepsis	http://purl.obolibrary.org/obo/DOID_104	bacterial infectious disease		A bacterial infectious disease has_material_basis_in Bacteria.
http://purl.obolibrary.org/obo/DOID_0040086	Polyomavirus-associated nephropathy	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease has_material_basis_in BK polyomavirus (Betapolyomavirus hominis).
http://purl.obolibrary.org/obo/DOID_0040087	autoimmune peripheral neuropathy	http://purl.obolibrary.org/obo/DOID_0060033	autoimmune disease of peripheral nervous system		An autoimmune disease of peripheral nervous system that results in peripheral neuropathy.
http://purl.obolibrary.org/obo/DOID_0040088	autoimmune uveitis	http://purl.obolibrary.org/obo/DOID_3480	uveal disease		An autoimmune disease of eyes, ear, nose and throat that is located_in the uvea.
http://purl.obolibrary.org/obo/DOID_0040089	autoimmune optic neuritis	http://purl.obolibrary.org/obo/DOID_0060033	autoimmune disease of peripheral nervous system		An autoimmune disease of peripheral nervous system that is located_in the neuron projection bundle connecting eye with brain.
http://purl.obolibrary.org/obo/DOID_0040090	autoimmune gastritis	http://purl.obolibrary.org/obo/DOID_76	stomach disease		An autoimmune disease of gastrointestinal tract that is located_in the stomach.
http://purl.obolibrary.org/obo/DOID_0040091	autoimmune pancreatitis	http://purl.obolibrary.org/obo/DOID_26	pancreas disease		An autoimmune disease of endocrine system that is located_in the pancreas.
http://purl.obolibrary.org/obo/DOID_0040092	juvenile ankylosing spondylitis	http://purl.obolibrary.org/obo/DOID_7147	ankylosing spondylitis		An ankylosing spondylitis with onset during childhood.
http://purl.obolibrary.org/obo/DOID_0040093	drug-induced lupus erythematosus	http://purl.obolibrary.org/obo/DOID_8857	lupus erythematosus		A lupus erythematosus caused by chronic use of certain drugs.
http://purl.obolibrary.org/obo/DOID_0040094	autoimmune glomerulonephritis	http://purl.obolibrary.org/obo/DOID_0060049	autoimmune disease of urogenital tract		An autoimmune disease of urogenital tract that is located_in the renal glomerulus.
http://purl.obolibrary.org/obo/DOID_0040095	autoimmune cardiomyopathy	http://purl.obolibrary.org/obo/DOID_114	heart disease		An autoimmune disease of cardiovascular system that is characterized by deterioration of the function of the heart muscle.
http://purl.obolibrary.org/obo/DOID_0040096	autoimmune atherosclerosis	http://purl.obolibrary.org/obo/DOID_0060051	autoimmune disease of cardiovascular system		An autoimmune disease of cardiovascular system that is characterized by a build up of plaque in the arteries.
http://purl.obolibrary.org/obo/DOID_0040097	autoimmune vasculitis	http://purl.obolibrary.org/obo/DOID_0060051	autoimmune disease of cardiovascular system		An autoimmune disease of cardiovascular system that is characterized by inflammation of the blood vessels.
http://purl.obolibrary.org/obo/DOID_0040098	pemphigus gestationis	http://purl.obolibrary.org/obo/DOID_9182	pemphigus		A pemphigus that is characterized by blistered skin as a result of self-reactive T and B cells that target BP180.
http://purl.obolibrary.org/obo/DOID_0040099	livedoid vasculitis	http://purl.obolibrary.org/obo/DOID_865	vasculitis		A vasculitis with purpuric ulcers.
http://purl.obolibrary.org/obo/DOID_0040100	Hirata disease	http://purl.obolibrary.org/obo/DOID_0060005	autoimmune disease of endocrine system		An autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin.
http://purl.obolibrary.org/obo/DOID_0040101	N,N'-diphenylthiourea allergic contact dermatitis	http://purl.obolibrary.org/obo/DOID_3042	allergic contact dermatitis		An allergic contact dermatitis that has_allergic_trigger N,N-diphenylthiourea.
http://purl.obolibrary.org/obo/DOID_0040102	N,N'-diethylthiourea allergic contact dermatitis	http://purl.obolibrary.org/obo/DOID_3042	allergic contact dermatitis		An allergic contact dermatitis that has_allergic_trigger N,N-diethylthiourea.
http://purl.obolibrary.org/obo/DOID_0040103	cefotiam allergy	http://purl.obolibrary.org/obo/DOID_0040021	cephalosporin allergy		A cephalosporin allergy that has_allergic_trigger cefotiam.
http://purl.obolibrary.org/obo/DOID_0080307	myofibrillar myopathy	http://purl.obolibrary.org/obo/DOID_423	myopathy		A myopathy that is characterized by slowly progressive muscle weakness that can involve both proximal muscles and distal muscles.
http://purl.obolibrary.org/obo/DOID_0080308	myofibrillar myopathy 8	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PYROXD1 gene on chromosome 12p12.
http://purl.obolibrary.org/obo/DOID_0080309	infantile-onset myofibrillar myopathy-2B	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23.
http://purl.obolibrary.org/obo/DOID_0111535	progressive osseous heteroplasia	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32.
http://purl.obolibrary.org/obo/DOID_0111536	Buschke-Ollendorff syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in the LEMD3 gene on chromosome 12q14.3.
http://purl.obolibrary.org/obo/DOID_0111537	paroxysmal extreme pain disorder	http://purl.obolibrary.org/obo/DOID_11465	autonomic nervous system disease		An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in the SCN9A gene on chromosome 2q24.3.
http://purl.obolibrary.org/obo/DOID_0111538	paramyotonia congenita of Von Eulenburg	http://purl.obolibrary.org/obo/DOID_440	neuromuscular disease		A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in the SCN4A gene on chromosome 17q23.3.
http://purl.obolibrary.org/obo/DOID_0111539	parastremmatic dwarfism	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.
http://purl.obolibrary.org/obo/DOID_0111540	prolidase deficiency	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in the PEPD gene on chromosome 19q13.11.
http://purl.obolibrary.org/obo/DOID_0111541	pigmented paravenous chorioretinal atrophy	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in the CRB1 gene on chromosome 1q31.3.
http://purl.obolibrary.org/obo/DOID_0111542	familial expansile osteolysis	http://purl.obolibrary.org/obo/DOID_0080005	bone remodeling disease		A bone remodeling disease characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton, bone pain, pathological fractures, childhood onset of conductive hearing loss, and premature tooth loss that has_material_basis_in heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.33.
http://purl.obolibrary.org/obo/DOID_0111543	juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointestinal tract that has_material_basis_in heterozygous mutation in the SMAD4 gene on chromosome 18q21.2.
http://purl.obolibrary.org/obo/DOID_0111544	Guttmacher syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.2.
http://purl.obolibrary.org/obo/DOID_0111545	familial male-limited precocious puberty	http://purl.obolibrary.org/obo/DOID_28	endocrine system disease		An endocrine system disease characterized by onset in early childhood of accelerated growth, early development of secondary sexual characteristics, and reduced adult height in males only that has_material_basis_in heterozygous mutation in the LHCGR gene on chromosome 2p16.3.
http://purl.obolibrary.org/obo/DOID_0111546	Currarino syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by anorectal malformations, a presacral mass, and partial sacral agenesis with intact first sacral vertebra that has_material_basis_in heterozygous mutation in HLXB9 on chromosome 7q36.3.
http://purl.obolibrary.org/obo/DOID_0111547	retinal arterial tortuosity	http://purl.obolibrary.org/obo/DOID_0050828	artery disease		An artery disease characterized by pronounced tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system that has_material_basis_in heterozygous mutation in the COL4A1 gene on chromosome 13q34.
http://purl.obolibrary.org/obo/DOID_0111548	ring dermoid of cornea	http://purl.obolibrary.org/obo/DOID_10124	corneal disease		A corneal disease characterized by annular limbal dermoids with corneal and conjunctival extension that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25.
http://purl.obolibrary.org/obo/DOID_0111549	aplasia of lacrimal and salivary glands	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by irritable eyes, epiphora, xerostomia, variable aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands, and absence of the lacrimal puncta that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12.
http://purl.obolibrary.org/obo/DOID_0111550	scalp-ear-nipple syndrome	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An ectodermal dysplasia characterized by cutis aplasia of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears that has_material_basis_in heterozygous mutation in the KCTD1 gene on chromosome 18q11.2.
http://purl.obolibrary.org/obo/DOID_0111551	neurogenic scapuloperoneal syndrome Kaeser type	http://purl.obolibrary.org/obo/DOID_423	myopathy		A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in DES on chromosome 2q35.
http://purl.obolibrary.org/obo/DOID_0111552	scapuloperoneal spinal muscular atrophy	http://purl.obolibrary.org/obo/DOID_231	motor neuron disease		A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.
http://purl.obolibrary.org/obo/DOID_0111553	spondyloepiphyseal dysplasia Maroteaux type	http://purl.obolibrary.org/obo/DOID_0112280	spondyloepiphyseal dysplasia		An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.
http://purl.obolibrary.org/obo/DOID_0111554	spondylometaphyseal dysplasia Kozlowski type	http://purl.obolibrary.org/obo/DOID_0112295	spondylometaphyseal dysplasia		A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.
http://purl.obolibrary.org/obo/DOID_0111555	Alkuraya-Kucinskas syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by arthrogryposis, cerebral parenchymal underdevelopment, clubfoot, and global developmental delay with severe cases being incompatible with life that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA1109 gene on chromosome 4q27.
http://purl.obolibrary.org/obo/DOID_0111556	steatocystoma multiplex	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A sebaceous gland disease characterized by the presence of multiple benign sebaceous cysts that has_material_basis_in heterozygous mutation in the KRT17 gene on chromosome 17q21.2.
http://purl.obolibrary.org/obo/DOID_0111557	Charcot-Marie-Tooth disease type 2A2B	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in the MFN2 gene on chromosome 1p36.22.
http://purl.obolibrary.org/obo/DOID_0111558	Charcot-Marie-Tooth disease type 2DD	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in the ATP1A1 gene on chromosome 1p13.1.
http://purl.obolibrary.org/obo/DOID_0111559	Charcot-Marie-Tooth disease type 2EE	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the MPV17 gene on chromosome 2p23.3.
http://purl.obolibrary.org/obo/DOID_0111560	Charcot-Marie-Tooth disease type 1G	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in the PMP2 gene on chromosome 8q21.13.
http://purl.obolibrary.org/obo/DOID_0111561	stiff skin syndrome	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.1.
http://purl.obolibrary.org/obo/DOID_0111562	overhydrated hereditary stomatocytosis	http://purl.obolibrary.org/obo/DOID_2361	macrocytic anemia		A macrocytic anemia characterized by macrocytic hemolytic anemia and monovalent cation leak from red blood cells that has_material_basis_in heterozygous mutation in the RHAG gene on chromosome 6p12.3.
http://purl.obolibrary.org/obo/DOID_0111563	Sturge-Weber syndrome	http://purl.obolibrary.org/obo/DOID_178	vascular disease		A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2.
http://purl.obolibrary.org/obo/DOID_0111564	hypoplastic or aplastic tibia with polydactyly	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of the LMBR1 gene on chromosome 7q36.3.
http://purl.obolibrary.org/obo/DOID_0111565	trichodontoosseous syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology that has_material_basis_in heterozygous mutation in the DLX3 gene on chromosome 17q21.33.
http://purl.obolibrary.org/obo/DOID_0111566	familial isolated trichomegaly	http://purl.obolibrary.org/obo/DOID_530	eyelid disease		An eyelid disease characterized by prolonged anagen phase of the eyelash hairs resulting in extremely long eyelashes that has_material_basis_in homozygous or compound heterozygous mutation in the FGF5 gene on chromosome 4q21.21.
http://purl.obolibrary.org/obo/DOID_0111567	retinal vasculopathy with cerebral leukodystrophy	http://purl.obolibrary.org/obo/DOID_178	vascular disease		A vascular disease characterized by adult onset of microvascular endotheliopathy resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline that has_material_basis_in heterozygous mutation in TREX1 on chromosome 3p21.31.
http://purl.obolibrary.org/obo/DOID_0111568	congenital vertical talus	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A connective tissue disease characterized by dislocation of the talonavicular joint with vertical orientation of the talus and rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot that has_material_basis_in heterozygous mutation in the HOXD10 gene on chromosome 2q31.1.
http://purl.obolibrary.org/obo/DOID_0111569	autosomal dominant vitreoretinochoroidopathy	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental anomalies that has_material_basis_in heterozygous mutation in the BEST1 gene on chromosome 11q12.3.
http://purl.obolibrary.org/obo/DOID_0111570	snowflake vitreoretinal degeneration	http://purl.obolibrary.org/obo/DOID_9799	eye degenerative disease		An eye degenerative disease characterized by fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment that has_material_basis_in heterozygous mutation in KCNJ13 on chromosome 2q37.1.
http://purl.obolibrary.org/obo/DOID_0111571	Weyers acrofacial dysostosis	http://purl.obolibrary.org/obo/DOID_0060379	acrofacial dysostosis		An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has_material_basis_in heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2.
http://purl.obolibrary.org/obo/DOID_0111572	familial woolly hair syndrome	http://purl.obolibrary.org/obo/DOID_421	hair disease		A hair disease characterized by fine and tightly curled hair that grows slowly and stops growing after a few inches with hair shafts that display trichorrhexis nodosa and tapered ends.
http://purl.obolibrary.org/obo/DOID_0111573	autosomal dominant woolly hair	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A familial woolly hair syndrome that has_material_basis_in heterozygous mutation in the KRT74 gene on chromosome 12q13.13.
http://purl.obolibrary.org/obo/DOID_0111574	autosomal recessive woolly hair 3	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A familial woolly hair syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KRT24 gene on chromosome 17q21.2.
http://purl.obolibrary.org/obo/DOID_0111575	dehydrated hereditary stomatocytosis	http://purl.obolibrary.org/obo/DOID_583	hemolytic anemia		A hemolytic anemia characterized by altered intracellular cation content and cellular dehydration of erythocytes resulting in increased mean corpuscular hemoglobin concentrations and altered cell shapes.
http://purl.obolibrary.org/obo/DOID_0111576	dehydrated hereditary stomatocytosis 1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the PIEZO1 gene on chromosome 16q24.3.
http://purl.obolibrary.org/obo/DOID_0111577	dehydrated hereditary stomatocytosis 2	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the KCNN4 gene on chromosome 19q13.31.
http://purl.obolibrary.org/obo/DOID_0111578	Gillespie syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the ITPR1 gene on chromosome 3p26.1.
http://purl.obolibrary.org/obo/DOID_0111579	asthma, nasal polyps, and aspirin intolerance	http://purl.obolibrary.org/obo/DOID_1579	respiratory system disease		A respiratory system disease characterized by asthma, aspirin-induced bronchoconstriction, and nasal polyps.
http://purl.obolibrary.org/obo/DOID_0111580	Behr syndrome	http://purl.obolibrary.org/obo/DOID_863	nervous system disease		A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29.
http://purl.obolibrary.org/obo/DOID_0111581	C syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the CD96 gene on chromosome 3q13.1-q13.2.
http://purl.obolibrary.org/obo/DOID_0111582	hereditary arterial and articular multiple calcification syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that has_material_basis_in homozygous or compound heterozygous mutation in the NT5E gene on chromosome 6q14.3.
http://purl.obolibrary.org/obo/DOID_0111583	carboxypeptidase N deficiency	http://purl.obolibrary.org/obo/DOID_2345	plasma protein metabolism disease		A plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous mutation in the CPN1 gene on chromosome 10q24.2.
http://purl.obolibrary.org/obo/DOID_0111584	dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.
http://purl.obolibrary.org/obo/DOID_0111585	carnitine-acylcarnitine translocase deficiency	http://purl.obolibrary.org/obo/DOID_3146	lipid metabolism disorder		A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A20 gene on chromosome 3p21.31.
http://purl.obolibrary.org/obo/DOID_0111586	Martsolf syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41.
http://purl.obolibrary.org/obo/DOID_0111587	Gordon Holmes syndrome	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has_material_basis_in homozygous or compound heterozygous mutation in the RNF216 gene on chromosome 7p22.1.
http://purl.obolibrary.org/obo/DOID_0111588	Greenberg dysplasia	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers that has_material_basis_in homozygous or compound heterozygous mutation in LBR on chromosome 1q42.12.
http://purl.obolibrary.org/obo/DOID_0111589	COACH syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L).
http://purl.obolibrary.org/obo/DOID_0111590	Cohen syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13B gene on chromosome 8q22.2.
http://purl.obolibrary.org/obo/DOID_0111591	congenital heart defects, hamartomas of tongue, and polysyndactyly	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by congenital heart defects, hamartomas of tongue, and polysyndactyly that has_material_basis_in homozygous or compound heterozygous mutation in the WDPCP gene on chromosome 2p15.
http://purl.obolibrary.org/obo/DOID_0111592	plasminogen deficiency type I	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and chronic mucosal pseudomembranous lesions typically manifesting as ligneous conjunctivitis that has_material_basis_in homozygous or compound heterozygous mutation in PLG on chromosome 6q26.
http://purl.obolibrary.org/obo/DOID_0070338	cerebellar hypoplasia	http://purl.obolibrary.org/obo/DOID_2786	cerebellar disease		A cerebellar disease that is characterized by a cerebellum that is smaller than usual or not completely developed.
http://purl.obolibrary.org/obo/DOID_0070339	cerebellar hyplasia/atrophy, epilepsy, and global developmental delay	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus.
http://purl.obolibrary.org/obo/DOID_0070340	classic citrullinemia	http://purl.obolibrary.org/obo/DOID_9273	citrullinemia		A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0070341	neonatal-onset type II citrullinemia	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A citrullinemia characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21.
http://purl.obolibrary.org/obo/DOID_0070342	adult-onset type II citrullinemia	http://purl.obolibrary.org/obo/DOID_9273	citrullinemia		A citrullinemia characterized by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21.
http://purl.obolibrary.org/obo/DOID_0070343	CSF1R-related brain malformation and osteopetrosis	http://purl.obolibrary.org/obo/DOID_2367	neuroaxonal dystrophy		A neuroaxonal dystrophy that has_material_basis_in heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life.
http://purl.obolibrary.org/obo/DOID_0070344	ocular tuberculosis	http://purl.obolibrary.org/obo/DOID_5614	eye disease		A tuberculosis that is located_in some eye, has_material_basis_in Mycobacterium tuberculosis, and has_symptom inflamed eyes.
http://purl.obolibrary.org/obo/DOID_0070345	vertebral anomalies and variable endocrine and T-cell dysfunction	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that has_material_basis_in heterozygous mutation in the TBX2 gene on chromosome 17q23 and is characterized by craniofacial dysmorphisms, cardiac anomalies, skeletal malformations, immune deficiency, endocrine abnormalities and developmental impairments.
http://purl.obolibrary.org/obo/DOID_0070346	neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by impaired intellectual development with absent language and short stature and that has_material_basis_in homozygous mutation in the INTS1 gene on chromosome 7p22.
http://purl.obolibrary.org/obo/DOID_0070347	encephalopathy due to defective mitochondrial and peroxisomal fission 1	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that has_material_basis_in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and has_symptom hypotonia that may lead to death in childhood.
http://purl.obolibrary.org/obo/DOID_0070348	spinal muscular atrophy with lower extremity predominant	http://purl.obolibrary.org/obo/DOID_12377	spinal muscular atrophy		A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance and is characterized by muscle weakness and wasting in the lower limbs, most affecting the thigh muscles.
http://purl.obolibrary.org/obo/DOID_0070349	spinal muscular atrophy with lower extremity predominant 2A	http://purl.obolibrary.org/obo/DOID_0070348	spinal muscular atrophy with lower extremity predominant		A spinal muscular atrophy with lower extremity predominance that is characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22.
http://purl.obolibrary.org/obo/DOID_0070350	spinal muscular atrophy with lower extremity predominant 2B	http://purl.obolibrary.org/obo/DOID_0070348	spinal muscular atrophy with lower extremity predominant		A spinal muscular atrophy with lower extremity predominance that is characterized by decreased fetal movements and are congenital contractures consistent with arthrogryposis multiplex congenita and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22.
http://purl.obolibrary.org/obo/DOID_0070351	spinal muscular atrophy with lower extremity predominant 1	http://purl.obolibrary.org/obo/DOID_0070348	spinal muscular atrophy with lower extremity predominant		A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.
http://purl.obolibrary.org/obo/DOID_0080638	B-cell acute lymphoblastic leukemia	http://purl.obolibrary.org/obo/DOID_9952	acute lymphoblastic leukemia		An acute lymphocytic leukemia characterized by too many B-cell lymphoblasts (immature white blood cells) in the bone marrow and blood.
http://purl.obolibrary.org/obo/DOID_0111716	cryptophthalmia	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		A physical disorder characterized by ocular dysplasia with eyelid malformation.
http://purl.obolibrary.org/obo/DOID_0111717	isolated cryptophthalmia	http://purl.obolibrary.org/obo/DOID_0111716	cryptophthalmia		A cryptophthalmia characterized by absence of the eyelids with skin covering the eye and often an underlying malformed eye.
http://purl.obolibrary.org/obo/DOID_0111718	partial cryptophthalmia	http://purl.obolibrary.org/obo/DOID_0111717	isolated cryptophthalmia		An isolated cryptophthalmia characterized by an ill-defined upper eyelid that is completely fused, often over an abnormally developed globe and a keratinized cornea.
http://purl.obolibrary.org/obo/DOID_0111719	complete cryptophthalmia	http://purl.obolibrary.org/obo/DOID_0111717	isolated cryptophthalmia		An isolated cryptophthalmia characterized by failure of formation of the lid folds and globe results in skin extending from the brow to the cheek without identifiable adnexal structures and often the presence of a vestigial ocular structure or cyst within the socket.
http://purl.obolibrary.org/obo/DOID_0111720	congenital symblepharon	http://purl.obolibrary.org/obo/DOID_0111717	isolated cryptophthalmia		An isolated cryptophthalmia characterized by fusion of the upper eyelid skin to the superior aspect of the globe often associated with microphthalmia.
http://purl.obolibrary.org/obo/DOID_0111721	amelogenesis imperfecta type 3	http://purl.obolibrary.org/obo/DOID_2187	amelogenesis imperfecta		An amelogenesis imperfecta characterized by soft enamel that is initially of normal thickness but lost soon after tooth eruption.
http://purl.obolibrary.org/obo/DOID_0111722	amelogenesis imperfecta type 3C	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An amelogenesis imperfecta type 3 that is characterized by hypocalcified enamel in both the primary and secondary dentition and that has_material_basis_in homozygous mutation in the RELT gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0111723	Jacobsen Syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has_material_basis_in deletion of terminal chromosome 11q.
http://purl.obolibrary.org/obo/DOID_0111724	geleophysic dysplasia	http://purl.obolibrary.org/obo/DOID_0080006	bone development disease		A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis.
http://purl.obolibrary.org/obo/DOID_0111725	geleophysic dysplasia 1	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A geleophysic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL2 gene on chromosome 9q34.2.
http://purl.obolibrary.org/obo/DOID_0111726	geleophysic dysplasia 2	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of the FBN1 gene on chromosome 15q21.1.
http://purl.obolibrary.org/obo/DOID_0111727	geleophysic dysplasia 3	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A geleophysic dysplasia that has_material_basis_in heterozygous mutation in the LTBP3 gene on chromosome 11q13.1.
http://purl.obolibrary.org/obo/DOID_0111728	familial episodic pain syndrome	http://purl.obolibrary.org/obo/DOID_870	neuropathy		A peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, occurring predominantly in either the upper body or lower limbs, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion.
http://purl.obolibrary.org/obo/DOID_0111729	familial episodic pain syndrome 1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A familial episodic pain syndrome characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress that has_material_basis_in heterozygous mutation in the TRPA1 gene on chromosome 8q13.
http://purl.obolibrary.org/obo/DOID_0111730	familial episodic pain syndrome 2	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A familial episodic pain syndrome characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities that has_material_basis_in heterozygous mutation in the SCN10A gene on chromosome 3p22.
http://purl.obolibrary.org/obo/DOID_0111731	familial episodic pain syndrome 3	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22.
http://purl.obolibrary.org/obo/DOID_0111732	Eiken syndrome	http://purl.obolibrary.org/obo/DOID_0080006	bone development disease		A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in the PTHR1 gene on chromosome 3p21.31.
http://purl.obolibrary.org/obo/DOID_0111733	pancreatic hypoplasia-diabetes-congenital heart disease syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has_material_basis_in heterozygous mutation in GATA6 on chromosome 18q11.2.
http://purl.obolibrary.org/obo/DOID_0111734	aminoglycoside-induced deafness	http://purl.obolibrary.org/obo/DOID_0070310	drug-induced hearing loss		A drug-induced hearing loss characterized by hearing loss induced by therapeutic doses of aminoglycoside antibiotics that has_material_basis_in mutation in the mitochondrial genes MTRNR1 or MTCO1 in combination with homozygous mutation in TRMU on chromosome 22q13.31.
http://purl.obolibrary.org/obo/DOID_0111735	X-linked deafness 4	http://purl.obolibrary.org/obo/DOID_0050566	X-linked nonsyndromic deafness		An X-linked nonsyndromic deafness characterized by progressive hearing loss with postlingual onset and earlier onset in males compared to females that has_material_basis_in mutation in the SMPX gene on chromosome Xp22.12.
http://purl.obolibrary.org/obo/DOID_0111736	X-linked deafness 3	http://purl.obolibrary.org/obo/DOID_0050566	X-linked nonsyndromic deafness		An X-linked nonsyndromic deafness characterized by congenital, bilateral, profound and sensorineural hearing loss in males and bilateral, mild to moderate high frequency sensorineural hearing impairment with later onset in heterozygous females that has_material_basis_in mutation in a region on chromosome Xp21.2.
http://purl.obolibrary.org/obo/DOID_0111737	X-linked deafness 2	http://purl.obolibrary.org/obo/DOID_0050566	X-linked nonsyndromic deafness		An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1.
http://purl.obolibrary.org/obo/DOID_0111738	X-linked deafness 7	http://purl.obolibrary.org/obo/DOID_0050566	X-linked nonsyndromic deafness		An X-linked nonsyndromic deafness characterized by congenital, bilateral, mixed or conductive hearing loss and other ear anomalies that has_material_basis_in homozygous or hemizygous mutation in the GPRASP2 gene on chromosome Xq22.1.
http://purl.obolibrary.org/obo/DOID_0111739	X-linked deafness 1	http://purl.obolibrary.org/obo/DOID_0050566	X-linked nonsyndromic deafness		An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in the PRPS1 gene on chromosome Xq22.3.
http://purl.obolibrary.org/obo/DOID_0111740	X-linked deafness 6	http://purl.obolibrary.org/obo/DOID_0050566	X-linked nonsyndromic deafness		An X-linked nonsyndromic deafness characterized by severe bilateral sensorineural hearing loss with cochlear malformation in males and mild to moderate hearing loss in females with later onset that has_material_basis_in mutation in the COL4A6 gene on chromosome Xq22.3.
http://purl.obolibrary.org/obo/DOID_0111741	X-linked deafness 5	http://purl.obolibrary.org/obo/DOID_870	neuropathy		A neuropathy characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment due to diffuse peripheral neuropathy that has_material_basis_in hemizygous or homozygous mutation in the AIFM1 gene on chromosome Xq26.1.
http://purl.obolibrary.org/obo/DOID_0081030	central conducting lymphatic anomaly	http://purl.obolibrary.org/obo/DOID_75	lymphatic system disease		A lymphatic system disease that is characterized by dysfunction of the thoracic duct or cisterna chyli, leading to a retrograde flux of lymphatic fluid or abnormal drainage of lymphatic fluid and that has_material_basis_in heterozygous mutation in the EPHB4 gene on chromosome 7q22.
http://purl.obolibrary.org/obo/DOID_0081031	generalized lymphatic anomaly	http://purl.obolibrary.org/obo/DOID_75	lymphatic system disease		A lymphatic system disease that is characterized by abnormal overgrowth of lymphatic vessels with multiple areas in the lungs, pleura, bones and soft tissues leading to lymphatic malformations.
http://purl.obolibrary.org/obo/DOID_0112339	Tatton-Brown-Rahman syndrome	http://purl.obolibrary.org/obo/DOID_0050888	syndromic intellectual disability		A syndromic intellectual disability characterized by tall stature, a distinctive facial appearance, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DNMT3A gene on chromosome 2p23.3.
http://purl.obolibrary.org/obo/DOID_0112340	craniotubular dysplasia Ikegawa type	http://purl.obolibrary.org/obo/DOID_0080032	craniodiaphyseal dysplasia		A craniodiaphyseal dysplasia characterized by childhood-onset short stature in association with macrocephaly, dolichocephaly, or prominent forehead that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM53 gene on chromosome 1p34.1.
http://purl.obolibrary.org/obo/DOID_0112341	hereditary spastic paraplegia 80	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia characterized by juvenile-onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs that has_material_basis_in heterozygous mutation in the UBAP1 gene on chromosome 9p13.3.
http://purl.obolibrary.org/obo/DOID_0112342	hereditary spastic paraplegia 86	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia characterized by early childhood onset of global developmental delay and early-onset progressive spasticity mainly affecting the lower limbs but also affecting the upper lmbs that has_material_basis_in homozygous or compound heterozygous mutation in the ABHD16A gene on chromosome 6p21.33.
http://purl.obolibrary.org/obo/DOID_0112343	hereditary spastic paraplegia 82	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT2 gene on chromosome 17q25.3.
http://purl.obolibrary.org/obo/DOID_0112344	hereditary spastic paraplegia 79B	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13.
http://purl.obolibrary.org/obo/DOID_0112345	hereditary spastic paraplegia 85	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia characterized by onset of motor symptoms (e.g. spasticity and hyperreflexia of the lower limbs) in the first few years of life that has_material_basis_in homozygous or compound heterozygous mutation in the RNF170 gene on chromosome 8p11.21.
http://purl.obolibrary.org/obo/DOID_0112346	hereditary spastic paraplegia 83	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia characterized by progressive lower limb spasticity resulting in gait instability that has_material_basis_in homozygous or compound heterozygous mutation in the HPDL gene on chromosome 1p34.1.
http://purl.obolibrary.org/obo/DOID_0112347	hereditary spastic paraplegia 84	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia characterized by onset in the first 2 decades of life of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the PI4KA gene on chromosome 22q11.21.
http://purl.obolibrary.org/obo/DOID_0112348	hereditary spastic paraplegia 78	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the ATP13A2 gene on chromosome 1p36.13.
http://purl.obolibrary.org/obo/DOID_0112349	hereditary spastic paraplegia 81	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in the SELENOI gene on chromosome 2p23.3.
http://purl.obolibrary.org/obo/DOID_0112350	spermatogenic failure 61	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete meiotic arrest at the primary spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the STAG3 gene on chromosome 7q22.1.
http://purl.obolibrary.org/obo/DOID_0112351	spermatogenic failure 62	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete metaphase arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the RNF212 gene on chromosome 4p16.3.
http://purl.obolibrary.org/obo/DOID_0112352	spermatogenic failure 58	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella and immotile or severely reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the IFT74 gene on chromosome 9p21.2.
http://purl.obolibrary.org/obo/DOID_0112353	spermatogenic failure 64	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by male infertility due to oligoasthenoteratozoospermia or nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the FBXO43 gene on chromosome 8q22.2.
http://purl.obolibrary.org/obo/DOID_0112354	spermatogenic failure 65	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with severely reduced or absent progressive sperm motillity and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in the DHND1 gene on chromosome 11p15.4.
http://purl.obolibrary.org/obo/DOID_0112355	spermatogenic failure 60	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TERB1 gene on chromosome 16q22.1.
http://purl.obolibrary.org/obo/DOID_0112356	spermatogenic failure 63	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by male infertility due to severe oligozoospermia with markedly reduced progressive sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the RPL10L gene on chromosome 14q21.2.
http://purl.obolibrary.org/obo/DOID_0112357	spermatogenic failure 59	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TERB2 gene on chromosome 15q21.1.
http://purl.obolibrary.org/obo/DOID_0081240	peroxisome biogenesis disorder 1B	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A peroxisome biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21.
http://purl.obolibrary.org/obo/DOID_0081241	peroxisome biogenesis disorder 3B	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A peroxisome biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17.
http://purl.obolibrary.org/obo/DOID_0081242	autoimmune interstitial lung, joint, and kidney disease	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		An autoimmune disease that is characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease and that has_material_basis_in heterozygous mutation in the COPA gene on chromosome 1q23.
http://purl.obolibrary.org/obo/DOID_0081243	rhizomelic chondrodysplasia punctate type 4	http://purl.obolibrary.org/obo/DOID_2580	rhizomelic chondrodysplasia punctata		A rhizomelic chondrodysplasia punctate that has_material_basis_in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency.
http://purl.obolibrary.org/obo/DOID_0081244	pituitary blastoma	http://purl.obolibrary.org/obo/DOID_0070003	blastoma		A pituitary cancer that is characterized by features of Cushing disease, with elevated blood ACTH levels and hypercortisolism arising within the fetal anterior pituitary and associated with DICER1 mutations.
http://purl.obolibrary.org/obo/DOID_0081245	cauda equina neuroendocrine tumor	http://purl.obolibrary.org/obo/DOID_4847	cauda equina neoplasm		A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina.
http://purl.obolibrary.org/obo/DOID_0081246	teratoma with somatic-type malignancy	http://purl.obolibrary.org/obo/DOID_3307	teratoma		A teratoma that is characterized by morphologic transformation to malignancy and an aggressive clinical course.
http://purl.obolibrary.org/obo/DOID_0081247	dedifferentiated chondrosarcoma	http://purl.obolibrary.org/obo/DOID_3371	chondrosarcoma		A chondrosarcoma that is an aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component.
http://purl.obolibrary.org/obo/DOID_0081248	pineocytoma	http://purl.obolibrary.org/obo/DOID_0060089	endocrine organ benign neoplasm		An endocrine organ benign neoplasm arising from the pineal gland that is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation.
http://purl.obolibrary.org/obo/DOID_0081249	EWSR1-negative small round cell tumor	http://purl.obolibrary.org/obo/DOID_3098	small cell sarcoma		A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm.
http://purl.obolibrary.org/obo/DOID_0081250	CIC-rearranged sarcoma	http://purl.obolibrary.org/obo/DOID_0081249	EWSR1-negative small round cell tumor		An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions.
http://purl.obolibrary.org/obo/DOID_0081251	papillary tumor of the pineal region	http://purl.obolibrary.org/obo/DOID_5032	pineal gland cancer		A pineal gland cancer that is characterized by the presence of neuroepithelial cells and a papillary architecture.
http://purl.obolibrary.org/obo/DOID_0081252	supratentorial ependymoma, ZFTA fusion–positive	http://purl.obolibrary.org/obo/DOID_0080890	supratentorial ependymoma		A suptratentorial ependymoma that is characterized by the presence of a fusion gene involving ZFTA gene.
http://purl.obolibrary.org/obo/DOID_0081253	supratentorial ependymoma, YAP1 fusion–positive	http://purl.obolibrary.org/obo/DOID_0080890	supratentorial ependymoma		A supratentorial ependymoma that is characterized by the presence of a fusion gene involving YAP1 gene.
http://purl.obolibrary.org/obo/DOID_0081254	posterior fossa group A ependymoma	http://purl.obolibrary.org/obo/DOID_0080889	posterior fossa ependymoma		A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression.
http://purl.obolibrary.org/obo/DOID_0081255	posterior fossa group B ependymoma	http://purl.obolibrary.org/obo/DOID_0080889	posterior fossa ependymoma		A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression.
http://purl.obolibrary.org/obo/DOID_0081256	astrocytoma, IDH-mutant, grade 2	http://purl.obolibrary.org/obo/DOID_0080875	IDH-mutant anaplastic astrocytoma		An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system.
http://purl.obolibrary.org/obo/DOID_0081257	astrocytoma, IDH-mutant, grade 3	http://purl.obolibrary.org/obo/DOID_0080875	IDH-mutant anaplastic astrocytoma		An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features.
http://purl.obolibrary.org/obo/DOID_0081259	desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma	http://purl.obolibrary.org/obo/DOID_5078	ganglioglioma		A ganglioglioma occurring predominantly in the cerebral hemispheres of infants, that are driven by MAPK pathway activation and composed of a mixed astrocytic and neuronal component (DIG) or an astrocytic component only (DIA) embedded in an extensive desmoplastic stroma, often containing foci of undifferentiated embryonal-like tumour cells.
http://purl.obolibrary.org/obo/DOID_0081260	diffuse low-grade glioma, MAPK pathway–altered	http://purl.obolibrary.org/obo/DOID_0080829	low grade glioma		A low grade glioma that is characterized by a gene alteration that results in a MAPK pathway abnormality, with morphological features of astrocytoma or oligodendroglioma.
http://purl.obolibrary.org/obo/DOID_0081261	angiocentric glioma	http://purl.obolibrary.org/obo/DOID_0080829	low grade glioma		A low grade glioma that is characterized by an angiocentric pattern, monomorphic cellular infiltrate, and ependymal differentiation.
http://purl.obolibrary.org/obo/DOID_0070398	hypomyelinating leukodystrophy 15	http://purl.obolibrary.org/obo/DOID_0060786	hypomyelinating leukodystrophy		A hypomyelinating leukodystrophy characterized by onset of motor and cognitive impairment of variable severity in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the EPRS1 gene on chromosome 1q41.
http://purl.obolibrary.org/obo/DOID_0070377	developmental and epileptic encephalopathy 96	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset of seizures in the first days or weeks of life that has_material_basis_in heterozygous mutation in the NSF gene on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0070379	developmental and epileptic encephalopathy 6B	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by early-infantile seizure onset, profoundly impaired intellectual development, and a hyperkinetic movement disorder that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24.
http://purl.obolibrary.org/obo/DOID_0070380	developmental and epileptic encephalopathy 85	http://purl.obolibrary.org/obo/DOID_0080009	X-linked dominant disease		A developmental and epileptic encephalopathy characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the SMC1A gene on chromosome Xp11.
http://purl.obolibrary.org/obo/DOID_0070381	developmental and epileptic encephalopathy 90	http://purl.obolibrary.org/obo/DOID_0050735	X-linked monogenic disease		A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first days or months of life that has_material_basis_in hemizygous or heterozygous mutation in the FGF13 gene on chromosome Xq26.
http://purl.obolibrary.org/obo/DOID_0070382	developmental and epileptic encephalopathy 95	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the PIGS gene on chromosome 17q11.
http://purl.obolibrary.org/obo/DOID_0070383	developmental and epileptic encephalopathy 97	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the CELF2 gene on chromosome 10p14.
http://purl.obolibrary.org/obo/DOID_0070384	developmental and epileptic encephalopathy 98	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset of seizures in the first decade associated with variable global developmental delay that has_material_basis_in heterozygous mutation in the ATP1A2 gene on chromosome 1q23.
http://purl.obolibrary.org/obo/DOID_0070385	developmental and epileptic encephalopathy 99	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset of seizures in early childhood that has_material_basis_in heterozygous mutation in the ATP1A3 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0070386	developmental and epileptic encephalopathy 100	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset of variable types of seizures in the first months or years of life preceded by global developmental delay that has_material_basis_in heterozygous mutation in the FBXO28 gene on chromosome 1q42.
http://purl.obolibrary.org/obo/DOID_0070387	developmental and epileptic encephalopathy 101	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by early infantile epileptic encephalopathy and severe global developmental delay that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0070388	developmental and epileptic encephalopathy 102	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by global developmental delay and severe to profoundly impaired intellectual development with inability to walk or speak that has_material_basis_in homozygous or compound heterozygous mutations in the SLC38A3 gene on chromosome 3p21.
http://purl.obolibrary.org/obo/DOID_0070389	developmental and epileptic encephalopathy 103	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first year of life that has_material_basis_in heterozygous mutation in the KCNC2 gene on chromosome 12q21.
http://purl.obolibrary.org/obo/DOID_0070390	developmental and epileptic encephalopathy 104	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the ATP6V0A1 on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0070391	developmental and epileptic encephalopathy 105	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25.
http://purl.obolibrary.org/obo/DOID_0070392	developmental and epileptic encephalopathy 106	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by onset of various types of frequent seizures within the first year of life and profound global developmental delay with limited ability to move and absent speech that has_material_basis_in homozygous mutation in the UFSP2 gene on chromosome 4q35.
http://purl.obolibrary.org/obo/DOID_0070393	developmental and epileptic encephalopathy 107	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life, severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia that has_material_basis_in homozygous mutation in the NAPB gene on chromosome 20p11.
http://purl.obolibrary.org/obo/DOID_0070397	hypomyelinating leukodystrophy 23	http://purl.obolibrary.org/obo/DOID_0060786	hypomyelinating leukodystrophy		A hypomyelinating leukodystrophy characterized by ataxia, deafness, liver dysfunction, and dilated cardiomyopathy that has_material_basis_in homozygous mutation in the RNF220 gene on chromosome 1p34. This disease results in death in the first or second decade of life.
http://purl.obolibrary.org/obo/DOID_0070399	hypomyelinating leukodystrophy 18	http://purl.obolibrary.org/obo/DOID_0060786	hypomyelinating leukodystrophy		A hypomyelinating leukodystrophy characterized by onset of global developmental delay in infancy or early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the DEGS1 gene on chromosome 1q42.
http://purl.obolibrary.org/obo/DOID_0070400	hypomyelinating leukodystrophy 19	http://purl.obolibrary.org/obo/DOID_0060786	hypomyelinating leukodystrophy		A hypomyelinating leukodystrophy characterized by onset of transient neurologic abnormalities in early infancy with resolution within the first or second decades that has_material_basis_in heterozygous mutation in the TMEM63A gene on chromosome 1q42.
http://purl.obolibrary.org/obo/DOID_0070402	hypomyelinating leukodystrophy 22	http://purl.obolibrary.org/obo/DOID_0060786	hypomyelinating leukodystrophy		A hypomyelinating leukodystrophy characterized by global developmental delay with mildly impaired intellectual development, motor impairment with limited or no ability to walk, and dysarthria that has_material_basis_in heterozygous mutation in the CLDN11 gene on chromosome 3q26.
http://purl.obolibrary.org/obo/DOID_0070407	hypomyelinating leukodystrophy 21	http://purl.obolibrary.org/obo/DOID_0060786	hypomyelinating leukodystrophy		A hypomyelinating leukodystrophy characterized by global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life that has_material_basis_in homozygous mutation in the POLR3K gene on chromosome 16p13.
http://purl.obolibrary.org/obo/DOID_0070409	autosomal recessive spinocerebellar ataxia 28	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria that has_material_basis_in homozygous mutation in the THG1L gene on chromosome 5q33.
http://purl.obolibrary.org/obo/DOID_0070410	autosomal recessive spinocerebellar ataxia 29	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the VPS41 gene on chromosome 7p14.
http://purl.obolibrary.org/obo/DOID_0070411	autosomal recessive spinocerebellar ataxia 30	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia that has_material_basis_in homozygous mutation in the PITRM1 gene on chromosome 10p15.
http://purl.obolibrary.org/obo/DOID_0070412	autosomal recessive spinocerebellar ataxia 31	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia characterized by global developmental delay with hypotonia and variably impaired intellectual and language development that has_material_basis_in homozygous or compound heterozygous mutation in the ATG7 gene on chromosome 3p25.
http://purl.obolibrary.org/obo/DOID_0070417	neurodevelopmental disorder with speech impairment and dysmorphic facies	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		A autosomal dominant intellectual developmental disorder characterized by developmental delay associated with mild to moderately impaired intellectual development or learning difficulties, behavioral or psychiatric abnormalities, and delayed speech and language acquisition that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11.
http://purl.obolibrary.org/obo/DOID_0070418	vertebral hypersegmentation and orofacial anomalies	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by supernumerary cervical, thoracic, and/or lumbar vertebrae, in association with supernumerary ribs that has_material_basis_in heterozygous mutation in the GDF11 gene on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0070422	syndromic X-linked intellectual disability Pilorge type	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked intellectual disability characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities including autism spectrum disorder that has_material_basis_in heterozygous or hemizygous mutation in the GLRA2 gene on chromosome Xp22.
http://purl.obolibrary.org/obo/DOID_0081338	myofibrillar myopathy 11	http://purl.obolibrary.org/obo/DOID_0080307	myofibrillar myopathy		A myofibrillar myopathy that is characterized by onset of slowly progressive proximal muscle weakness in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the UNC45B gene on chromosome 17q11.
http://purl.obolibrary.org/obo/DOID_0081342	congenital myopathy 8	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy that is characterized by hypotonia and delayed motor development apparent from infancy or childhood, resulting in difficulties walking or loss of ambulation within the first few decades and that has_material_basis_in heterozygous mutation in the ACTN2 gene on chromosome 1q43. Heterozygous mutation in the ACTN2 gene can also cause distal myopathy-6 (MPD6), which shows later onset and is less severe.
http://purl.obolibrary.org/obo/DOID_0081343	congenital myopathy 9A	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy that is characterized by neonatal hypotonia, poor feeding, fractures of the long bones, and respiratory insufficiency and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28.
http://purl.obolibrary.org/obo/DOID_0081344	congenital myopathy 9B	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy that is neonatal hypotonia followed by mildly delayed walking in childhood, mainly affecting proximal muscles, and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. Biallelic mutation in the FXR1 gene also causes CMYP9A.
http://purl.obolibrary.org/obo/DOID_0081346	congenital myopathy 14	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy that is characterized by onset of severe muscle weakness apparent at birth and sometimes in utero and that has_material_basis_in homozygous mutation in the MYL1 gene on chromosome 2q32. Affected infants have difficulty breathing independently and usually require mechanical ventilation for variable lengths of time.
http://purl.obolibrary.org/obo/DOID_0081348	congenital myopathy 16	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy that is characterized by onset of hypotonia and tremor in infancy and that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs.
http://purl.obolibrary.org/obo/DOID_0081349	congenital myopathy 17	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy that is characterized by hypotonia and respiratory insufficiency present at birth with associated with high diaphragmatic dome on imaging and that has_material_basis_in homozygous mutation in the MYOD1 gene on chromosome 11p15.
http://purl.obolibrary.org/obo/DOID_0081351	congenital myopathy 19	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy that is characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features and that has_material_basis_in homozygous mutation in the PAX7 gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0070378	developmental and epileptic encephalopathy 109	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first months or years of life that has_material_basis_in heterozygous mutation in the FZR1 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0070394	developmental and epileptic encephalopathy 108	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset of multiple types of seizures in the first 2 years of life that has_material_basis_in heterozygous mutation in the MAST3 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0070395	developmental and epileptic encephalopathy 110	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D1 gene on chromosome 7q21.
http://purl.obolibrary.org/obo/DOID_0070401	hypomyelinating leukodystrophy 25	http://purl.obolibrary.org/obo/DOID_0060786	hypomyelinating leukodystrophy		A hypomyelinating leukodystrophy characterized by horizontal nystagmus, hypotonia, and global developmental delay apparent soon after birth or in infancy. that has_material_basis_in heterozygous mutation in the TMEM163 gene on chromosome 2q21.
http://purl.obolibrary.org/obo/DOID_0070403	hypomyelinating leukodystrophy 26	http://purl.obolibrary.org/obo/DOID_0060786	hypomyelinating leukodystrophy		A hypomyelinating leukodystrophy characterized by severe psychomotor delay, predominantly involving motor and expressive language development, cerebral and cerebellar atrophy, and corpus callosum hypoplasia that has_material_basis_in homozygous mutation in the SLC35B2 gene on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0070406	hypomyelinating leukodystrophy 24	http://purl.obolibrary.org/obo/DOID_0060786	hypomyelinating leukodystrophy		A hypomyelinating leukodystrophy characterized by global developmental delay and neurologic deterioration that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34.
http://purl.obolibrary.org/obo/DOID_0070408	Hengel-Maroofian-Schols syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by infant or early childhood onset, impaired intellectual development with poor or absent speech, pyramidal signs, microcephaly, short stature, and dysmorphic facial features has_material_basis_in homozygous or compound heterozygous mutation in the BCAS3 gene on chromosome 17q23.
http://purl.obolibrary.org/obo/DOID_0070413	autosomal recessive spinocerebellar ataxia 32	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia characterized by onset of gait ataxia in the second or third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the PRDX3 gene on chromosome 10q26.
http://purl.obolibrary.org/obo/DOID_0070414	autosomal recessive spinocerebellar ataxia 33	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia characterized by delayed motor development apparent in infancy, unsteady ataxic gait, intention tremor, nystagmus, and speech delay with dysarthria that has_material_basis_in homozygous mutation in the RNU12 gene on chromosome 22q13.
http://purl.obolibrary.org/obo/DOID_0070416	Luo-Schoch-Yamamoto syndrome	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		A autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development apparent from infancy that has_material_basis_in heterozygous mutation in the RNF2 gene on chromosome 1q25.
http://purl.obolibrary.org/obo/DOID_0070420	developmental delay, hypotonia, and impaired language	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder characterized by variably impaired intellectual development usually with hypotonia, mild motor delay, and language difficulties that has_material_basis_in heterozygous mutation in the FBXW7 gene on chromosome 4q31.
http://purl.obolibrary.org/obo/DOID_0081339	congenital myopathy 2B	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy that is characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the ACTA1 gene on chromosome 1q42.
http://purl.obolibrary.org/obo/DOID_0081340	congenital myopathy 2C	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy that is characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life and that has_material_basis_in heterozygous mutation in the ACTA1 gene on chromosome 1q42. Heterozygous mutation in the ACTA1 gene can also cause autosomal dominant typical congenital myopathy-2A (CMYP2A). Biallelic mutation in the ACTA1 gene causes autosomal recessive severe infantile congenital myopathy-2B (CMYP2B).
http://purl.obolibrary.org/obo/DOID_0081345	congenital myopathy 10B	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy that is characterized by infantile- or childhood-onset myopathy, areflexia, dysphagia, and respiratory distress that usually requires nocturnal ventilation and that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF10 gene on chromosome 5q23. Biallelic mutation in the MEGF10 gene also causes a more severe congenital myopathy with overlapping features.
http://purl.obolibrary.org/obo/DOID_0081347	congenital myopathy 15	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy that is characterized by symptom onset soon after birth and that has_material_basis_in heterozygous mutation in the TNNC2 gene on chromosome 20q13. Affected infants are hypotonic and have severe respiratory insufficiency and feeding problems, sometimes requiring mechanical ventilation or tube feeding.
http://purl.obolibrary.org/obo/DOID_0081350	congenital myopathy 18	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the CACNA1S gene on chromosome 1q32.
http://purl.obolibrary.org/obo/DOID_0070491	mitochondrial complex IV deficiency nuclear type 1	http://purl.obolibrary.org/obo/DOID_0081377	COX deficiency, benign infantile mitochondrial myopathy		A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2.
http://purl.obolibrary.org/obo/DOID_0060932	developmental dysplasia of the hip 2	http://purl.obolibrary.org/obo/DOID_0060930	developmental dysplasia of the hip		A developmental dysplasia of the hip that is characterized by incomplete formation of the acetabulum leading to dislocation of the femur, suboptimal joint function, and accelerated wear of the articular cartilage, resulting in arthritis and that has_material_basis_in variation in the chromosomal region 3p22.2.
http://purl.obolibrary.org/obo/DOID_0081409	round cell sarcoma with EWSR1-PATZ1 gene fusion	http://purl.obolibrary.org/obo/DOID_0081406	round cell sarcoma with EWSR1-non-ETS fusion		A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-PATZ1 gene fusion.
http://purl.obolibrary.org/obo/DOID_0081400	autosomal dominant distal hereditary motor neuronopathy 11	http://purl.obolibrary.org/obo/DOID_0111198	autosomal dominant distal hereditary motor neuronopathy		An autosomal dominant distal hereditary motor neuronopathy that is characterized by juvenile or young-adult onset of distal limb muscle weakness and atrophy mainly affecting the lower limbs, resulting in gait instability and walking difficulties and that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0081408	round cell sarcoma with EWSR1-NFATC2 gene fusion	http://purl.obolibrary.org/obo/DOID_0081406	round cell sarcoma with EWSR1-non-ETS fusion		A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-NFATC2 gene fusion.
http://purl.obolibrary.org/obo/DOID_0081416	childhood renal cell carcinoma with MiT translocations	http://purl.obolibrary.org/obo/DOID_0081413	renal cell carcinoma with MiT translocations		A renal cell carcinoma with MiT translocations that is characterized by a TFE3 or TFEB-rearranged renal cell carcinoma that occurs during childhood.
http://purl.obolibrary.org/obo/DOID_0081425	autosomal recessive distal hereditary motor neuronopathy 6	http://purl.obolibrary.org/obo/DOID_0111197	autosomal recessive distal hereditary motor neuronopathy		An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness in early infancy and that has_material_basis_in homozygous mutation in the REEP1 gene on chromosome 2p11.
http://purl.obolibrary.org/obo/DOID_0081418	anaplastic sarcoma of the kidney	http://purl.obolibrary.org/obo/DOID_4242	kidney sarcoma		A kidney sarcoma that is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures.
http://purl.obolibrary.org/obo/DOID_0060959	orofaciodigital syndrome II	http://purl.obolibrary.org/obo/DOID_4501	orofaciodigital syndrome		An orofaciodigital syndrome that is characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies including tooth agenesis, maxillary hypoplasia, conductive hearing loss, and poly-, syn-, and brachydactyly that has_material_basis_in compound heterozygous mutation in the NEK1 gene on chromosome 4q33.
http://purl.obolibrary.org/obo/DOID_0070541	3-hydroxy-3-methylglutaryl-CoA lyase deficiency	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder characterized by metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCL gene on chromosome 1p36.11.
http://purl.obolibrary.org/obo/DOID_0060974	autosomal recessive Robinow syndrome 2	http://purl.obolibrary.org/obo/DOID_0060254	Robinow syndrome		A Robinow syndrome characterized bypostnatal mesomelic short stature and relative macrocephaly as well as dysmorphic facial features, including frontal bossing, hypertelorism, prominent eyes, wide short nose with anteverted nares, and triangular mouth that has_material_basis_in homozygous or compound heterozygous mutation in the NXN gene on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0070554	palmoplantar keratoderma and woolly hair	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A nonepidermolytic palmoplantar keratoderma characterized by striate palmoplantar keratoderma, sparse and woolly hair, leukonychia, and the absence of cardiomyopathy symptoms or findings on echocardiography and electrocardiogram that has_material_basis_in homozygous mutation in the KANK2 gene on chromosome 19p13.2.
http://purl.obolibrary.org/obo/DOID_0060997	rhabdoid tumor predisposition syndrome 2	http://purl.obolibrary.org/obo/DOID_0070617	rhabdoid tumor predisposition syndrome		A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCA4 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0070619	mitochondrial trifunctional protein deficiency 1	http://purl.obolibrary.org/obo/DOID_0111277	mitochondrial trifunctional protein deficiency		A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHA gene, the alpha subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3.The mutation affects enzyme activity due to a deficiency in all three catalytic activities of the mitochondrial trifunctional protein.
http://purl.obolibrary.org/obo/DOID_0061123	visceral heterotaxy 14	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A visceral heterotaxy that has_material_basis_in homozygous or compound heterozygous mutation in the C1ORF127 gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0061124	autosomal recessive nonsyndromic deafness 125	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness characterized by congenital nonsyndromic sensorineural hearing loss hat has_material_basis_in homozygous mutation in the GAS2 gene on chromosome 11p14.
http://purl.obolibrary.org/obo/DOID_0061125	immunodeficiency 131	http://purl.obolibrary.org/obo/DOID_850	lung disease		A primary immunodeficiency disease that is characterized by low IgM, IgG, and IgA serum levels, low plasma cell counts, abnormal T-cell subsets, and early graying of hair that has_material_basis_in heterozygous or homozygous mutation in the IRF4 gene on chromosome 6p25.
http://purl.obolibrary.org/obo/DOID_0061126	Brunet-Wagner neurodevelopmental syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		An autosomal recessive intellectual developmental disorder characterized by infantile hypotonia and severely impaired development affecting both motor and cognitive skills that has_material_basis_in homozygous or compound heterozygous mutation in the RBL2 gene on chromosome 16q12.
http://purl.obolibrary.org/obo/DOID_0061127	retinitis pigmentosa 99	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the RLBP1 gene on chromosome 15q26.1.
http://purl.obolibrary.org/obo/DOID_0061128	mucopolysaccharidosis X	http://purl.obolibrary.org/obo/DOID_12798	mucopolysaccharidosis		A mucopolysaccharidos characterized by childhood-onset disorder associated with disproportionate short-trunk short stature and skeletal, cardiac, and ophthalmologic abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ARSK gene, which encodes arylsulfatase K, on chromosome 5q15.
http://purl.obolibrary.org/obo/DOID_0061129	intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	http://purl.obolibrary.org/obo/DOID_225	syndrome		An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in FBXO11 gene on chromosome 2p16.
http://purl.obolibrary.org/obo/DOID_0061130	autosomal recessive limb-girdle muscular dystrophy type 28	http://purl.obolibrary.org/obo/DOID_0110274	autosomal recessive limb-girdle muscular dystrophy		An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness affecting the proximal and axial muscles of the upper and lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCR gene on chromosome 5q13.
http://purl.obolibrary.org/obo/DOID_0061131	autosomal recessive limb-girdle muscular dystrophy type 26	http://purl.obolibrary.org/obo/DOID_0110274	autosomal recessive limb-girdle muscular dystrophy		An autosomal recessive limb-girdle muscular dystrophy characterized by adult-onset weakness that primarily affects the proximal muscles of the lower limbs that has_material_basis_in homozygous mutation in the POPDC3 gene on chromosome 6q21.
http://purl.obolibrary.org/obo/DOID_0061132	autosomal recessive limb-girdle muscular dystrophy type 23	http://purl.obolibrary.org/obo/DOID_0110274	autosomal recessive limb-girdle muscular dystrophy		An autosomal recessive limb-girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs and resulting in gait difficulties that has_material_basis_in y homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22.
http://purl.obolibrary.org/obo/DOID_0061133	autosomal recessive limb-girdle muscular dystrophy type 27	http://purl.obolibrary.org/obo/DOID_0110274	autosomal recessive limb-girdle muscular dystrophy		An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness primarily affecting the lower limbs and resulting in walking difficulty or loss of ambulation that has_material_basis_in homozygous or compound heterozygous mutation in the JAG2 gene on chromosome 14q32.
http://purl.obolibrary.org/obo/DOID_0061134	autosomal recessive limb-girdle muscular dystrophy type 29	http://purl.obolibrary.org/obo/DOID_0110274	autosomal recessive limb-girdle muscular dystrophy		An autosomal recessive limb-girdle muscular dystrophy characterized by onset of muscle weakness predominantly affecting the proximal lower limbs, although upper limb involvement also occurs that has_material_basis_in homozygous or compound heterozygous mutation in the SNUPN gene on chromosome 15q24.
http://purl.obolibrary.org/obo/DOID_9255	frontotemporal dementia	http://purl.obolibrary.org/obo/DOID_936	brain disease		A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language.
http://purl.obolibrary.org/obo/DOID_1752	ocular melanoma	http://purl.obolibrary.org/obo/DOID_2174	ocular cancer		An ocular cancer that has_material_basis_in melanocytes and is located_in the eye.
http://purl.obolibrary.org/obo/DOID_1754	mitral valve stenosis	http://purl.obolibrary.org/obo/DOID_61	mitral valve disease		A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart.
http://purl.obolibrary.org/obo/DOID_1759	American histoplasmosis	http://purl.obolibrary.org/obo/DOID_1731	histoplasmosis		A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted by airborne spores and has symptom nonproductive cough, has symptom headache, has symptom loss of appetite and has symptom muscle pains.
http://purl.obolibrary.org/obo/DOID_1768	conversion disorder	http://purl.obolibrary.org/obo/DOID_4737	somatoform disorder		A somatoform disorder that involves numbness, blindness, paralysis or fits without a neurological cause.
http://purl.obolibrary.org/obo/DOID_1785	pituitary cancer	http://purl.obolibrary.org/obo/DOID_53	pituitary gland disease		An endocrine gland cancer located_in the pituitary gland located at the base of the brain.
http://purl.obolibrary.org/obo/DOID_1788	peritoneal mesothelioma	http://purl.obolibrary.org/obo/DOID_1725	peritoneum cancer		A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum.
http://purl.obolibrary.org/obo/DOID_1790	malignant mesothelioma	http://purl.obolibrary.org/obo/DOID_0050687	cell type cancer		A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs. Exposure to airborne asbestos particles increases one's risk of developing malignant mesothelioma.
http://purl.obolibrary.org/obo/DOID_1791	peritoneal carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A peritoneum cancer that is located_in the inside of the abdomen.
http://purl.obolibrary.org/obo/DOID_1793	pancreatic cancer	http://purl.obolibrary.org/obo/DOID_26	pancreas disease		An endocrine gland cancer located_in the pancreas.
http://purl.obolibrary.org/obo/DOID_1795	malignant exocrine pancreas neoplasm	http://purl.obolibrary.org/obo/DOID_1793	pancreatic cancer		A pancreatic cancer that arises from the epithelial cells of the exocrine pancreatic tissue.
http://purl.obolibrary.org/obo/DOID_1796	pancreas sarcoma	http://purl.obolibrary.org/obo/DOID_1115	sarcoma		A pancreatic cancer that is located_in the pancreas and that arises from transformed cells of mesenchymal origin.
http://purl.obolibrary.org/obo/DOID_1798	pancreatic endocrine carcinoma	http://purl.obolibrary.org/obo/DOID_1799	islet cell tumor		An islet cell tumor that has_material_basis_in epithelial cells.
http://purl.obolibrary.org/obo/DOID_1799	islet cell tumor	http://purl.obolibrary.org/obo/DOID_1793	pancreatic cancer		A pancreatic cancer that is located_in the pancreatic islet cells.
http://purl.obolibrary.org/obo/DOID_180	ossifying fibroma	http://purl.obolibrary.org/obo/DOID_0060094	bone benign neoplasm		A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma.
http://purl.obolibrary.org/obo/DOID_1800	neuroendocrine carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A carcinoma that derives_from neuroendocrine cells.
http://purl.obolibrary.org/obo/DOID_1825	childhood absence epilepsy	http://purl.obolibrary.org/obo/DOID_0050704	childhood electroclinical syndrome		A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years.
http://purl.obolibrary.org/obo/DOID_1837	diabetic ketoacidosis	http://purl.obolibrary.org/obo/DOID_0050758	metabolic acidosis		A metabolic acidosis that is characterized by the shift of acid-base status of the body toward the acid side accompanied by the accumulation of ketone bodies in body tissues and fluids, resulting from uncontrolled diabetes mellitus.
http://purl.obolibrary.org/obo/DOID_1849	cannabis dependence	http://purl.obolibrary.org/obo/DOID_9977	hallucinogen dependence		A drug dependence that involves the continued use of cannabis despite problems related to use of the substance.
http://purl.obolibrary.org/obo/DOID_1852	intrahepatic cholestasis	http://purl.obolibrary.org/obo/DOID_13580	cholestasis		A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver.
http://purl.obolibrary.org/obo/DOID_1856	cherubism 1	http://purl.obolibrary.org/obo/DOID_0070648	cherubism		A cherubism that has_material_basis_in heterozygous mutation in the SH3BP2 gene on chromosome 4p16.3.
http://purl.obolibrary.org/obo/DOID_1858	McCune Albright syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis.
http://purl.obolibrary.org/obo/DOID_1862	jaw cancer	http://purl.obolibrary.org/obo/DOID_184	bone cancer		A bone cancer and jaw disease that is located in the jaw and results in a swollen jaw, results in numbness or a tingling sensation in jaw, and results in an abnormal growth of the jaw bone.
http://purl.obolibrary.org/obo/DOID_1875	impotence	http://purl.obolibrary.org/obo/DOID_1876	sexual dysfunction		A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.
http://purl.obolibrary.org/obo/DOID_1876	sexual dysfunction	http://purl.obolibrary.org/obo/DOID_48	male reproductive system disease		A male reproductive system disease that is characterized by disturbances in sexual desire or performance.
http://purl.obolibrary.org/obo/DOID_1883	hepatitis C	http://purl.obolibrary.org/obo/DOID_1884	viral hepatitis		A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
http://purl.obolibrary.org/obo/DOID_1895	allergic contact dermatitis of eyelid	http://purl.obolibrary.org/obo/DOID_1205	allergic disease		A noninfectious dermatoses of eyelid that is characterized by eczema, pruritis, or erythematous vesicles or papules of the eyelids, and has_material_basis_in a type IV hypersenstivity reaction to an allergen or irritant.
http://purl.obolibrary.org/obo/DOID_1901	vagina sarcoma	http://purl.obolibrary.org/obo/DOID_119	vaginal cancer		A vaginal cancer that has_material_basis_in connective tissue.
http://purl.obolibrary.org/obo/DOID_1910	vaginal yolk sac tumor	http://purl.obolibrary.org/obo/DOID_119	vaginal cancer		A vaginal cancer that is a primitive, malignant, germ cell tumor with histological features recapitulating various development phases of the normal yolk sac.
http://purl.obolibrary.org/obo/DOID_1911	endodermal sinus tumor	http://purl.obolibrary.org/obo/DOID_2994	germ cell cancer		A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo.
http://purl.obolibrary.org/obo/DOID_1919	Lesch-Nyhan syndrome	http://purl.obolibrary.org/obo/DOID_653	purine-pyrimidine metabolic disorder		A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the HPRT1 gene on chromosome Xq26.
http://purl.obolibrary.org/obo/DOID_1920	hyperuricemia	http://purl.obolibrary.org/obo/DOID_0060158	acquired metabolic disease		An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.
http://purl.obolibrary.org/obo/DOID_1921	Klinefelter syndrome	http://purl.obolibrary.org/obo/DOID_0060429	chromosomal duplication syndrome		A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men.
http://purl.obolibrary.org/obo/DOID_1925	Coffin-Siris syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails.
http://purl.obolibrary.org/obo/DOID_1926	Gaucher's disease	http://purl.obolibrary.org/obo/DOID_1927	sphingolipidosis		A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.
http://purl.obolibrary.org/obo/DOID_1928	Williams-Beuren syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.
http://purl.obolibrary.org/obo/DOID_1929	supravalvular aortic stenosis	http://purl.obolibrary.org/obo/DOID_1712	aortic valve stenosis		An aortic valve stenosis that is characterized by a narrowing of the section of the aorta just above the valve that connects the aorta to the heart.
http://purl.obolibrary.org/obo/DOID_1930	Laurence-Moon syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the PNPLA6 gene on chromosome 19p13.2.
http://purl.obolibrary.org/obo/DOID_1931	hypothalamic disease	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease located_in the hypothalamus.
http://purl.obolibrary.org/obo/DOID_1932	Angelman syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance.
http://purl.obolibrary.org/obo/DOID_1933	Rubinstein-Taybi syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes.
http://purl.obolibrary.org/obo/DOID_1947	trichomoniasis	http://purl.obolibrary.org/obo/DOID_2789	parasitic protozoa infectious disease		A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively.
http://purl.obolibrary.org/obo/DOID_1949	cholecystitis	http://purl.obolibrary.org/obo/DOID_9446	cholangitis		A cholangitis that is characterized by an inflammation that is located in the gallbladder.
http://purl.obolibrary.org/obo/DOID_1963	fallopian tube carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A fallopian tube cancer that is located_in the fallopian tube.
http://purl.obolibrary.org/obo/DOID_1964	fallopian tube cancer	http://purl.obolibrary.org/obo/DOID_1962	fallopian tube disease		A female reproductive organ cancer that is located_in fallopian tube.
http://purl.obolibrary.org/obo/DOID_1965	fallopian tube leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_1967	leiomyosarcoma		A fallopian tube cancer that dervies_from smooth muscle cells.
http://purl.obolibrary.org/obo/DOID_1967	leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_4230	smooth muscle cancer		A smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis.
http://purl.obolibrary.org/obo/DOID_1970	fallopian tube carcinosarcoma	http://purl.obolibrary.org/obo/DOID_1964	fallopian tube cancer		A fallopian tube cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue.
http://purl.obolibrary.org/obo/DOID_1973	fallopian tube adenosarcoma	http://purl.obolibrary.org/obo/DOID_1970	fallopian tube carcinosarcoma		A fallopian tube carcinoma that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue.
http://purl.obolibrary.org/obo/DOID_1974	adenosarcoma	http://purl.obolibrary.org/obo/DOID_4236	carcinosarcoma		A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium.
http://purl.obolibrary.org/obo/DOID_1975	thymus lipoma	http://purl.obolibrary.org/obo/DOID_3315	lipoma		An immune system organ benign neoplasm that is located_in the thymus and derives_from fat cells.
http://purl.obolibrary.org/obo/DOID_1993	rectum cancer	http://purl.obolibrary.org/obo/DOID_9256	colorectal cancer		A colorectal cancer that is located_in the rectum.
http://purl.obolibrary.org/obo/DOID_1995	rectum sarcoma	http://purl.obolibrary.org/obo/DOID_1115	sarcoma		A sarcoma and malignant tumor of rectum that is located_in the rectum.
http://purl.obolibrary.org/obo/DOID_1996	rectum adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		A rectum cancer that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_1999	chronic eustachian salpingitis	http://purl.obolibrary.org/obo/DOID_2000	otosalpingitis		A otosalpingitis which is persistent and long-lasting.
http://purl.obolibrary.org/obo/DOID_2001	neuroma	http://purl.obolibrary.org/obo/DOID_0060115	nervous system benign neoplasm		A nervous system benign neoplasm that is characterized as a nerve tissue tumor.
http://purl.obolibrary.org/obo/DOID_2012	Nezelof syndrome	http://purl.obolibrary.org/obo/DOID_11200	T cell deficiency		A T cell deficiency that results from the disfunction or underdevelopment of the thymus.
http://purl.obolibrary.org/obo/DOID_2021	placenta cancer	http://purl.obolibrary.org/obo/DOID_780	placenta disease		A female reproductive organ cancer that is located_in the placenta.
http://purl.obolibrary.org/obo/DOID_2024	placental choriocarcinoma	http://purl.obolibrary.org/obo/DOID_2025	gestational choriocarcinoma		A gestational choriocarcinoma that is located_in the placenta.
http://purl.obolibrary.org/obo/DOID_2025	gestational choriocarcinoma	http://purl.obolibrary.org/obo/DOID_3594	choriocarcinoma		A choriocarcinoma that develops in the presence of a preceding gestational event.
http://purl.obolibrary.org/obo/DOID_203	exostosis	http://purl.obolibrary.org/obo/DOID_205	hyperostosis		A hyperostosis that involves formation of new bone on the surface of preexisting bone.
http://purl.obolibrary.org/obo/DOID_2043	hepatitis B	http://purl.obolibrary.org/obo/DOID_1884	viral hepatitis		A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.
http://purl.obolibrary.org/obo/DOID_2047	hepatitis D	http://purl.obolibrary.org/obo/DOID_1884	viral hepatitis		A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus (Orthohepadnavirus hominoidei). The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma. Hepatitis delta virus, also known as Hepatitis D virus, is not a single viral species but a group of viruses from the genus Deltavirus including Deltavirus italiense, Deltavirus japanense, Deltavirus peruense, Deltavirus taiwanense, Deltavirus togense, Deltavirus carense, Deltavirus cameroonense, Deltavirus senegalense.
http://purl.obolibrary.org/obo/DOID_2048	autoimmune hepatitis	http://purl.obolibrary.org/obo/DOID_0060031	autoimmune disease of gastrointestinal tract		An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells.
http://purl.obolibrary.org/obo/DOID_2050	acute maxillary sinusitis	http://purl.obolibrary.org/obo/DOID_2051	maxillary sinusitis		A maxillary sinusitis which lasts for less than 4 weeks.
http://purl.obolibrary.org/obo/DOID_2055	post-traumatic stress disorder	http://purl.obolibrary.org/obo/DOID_2030	anxiety disorder		An anxiety disorder which results from a traumatic experience that results in psychological trauma.
http://purl.obolibrary.org/obo/DOID_2058	chronic mucocutaneous candidiasis	http://purl.obolibrary.org/obo/DOID_4123	nail disease		A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp.
http://purl.obolibrary.org/obo/DOID_206	hereditary multiple exostoses	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth.
http://purl.obolibrary.org/obo/DOID_2060	vulvar nodular hidradenoma	http://purl.obolibrary.org/obo/DOID_0060109	vulvar benign neoplasm		A vulvar benign neoplasm that is characterized by nodules with cystic foci high in dermis on gross examination and derives_from the sweat gland distal excretory duct. Histologically characterized by nests or lobules of cells resembling eccrine poroma with either clear cytoplasm or prominent squamous metaplasia and lumina lined by cuboidal ductal cells or columnar secretory cells.
http://purl.obolibrary.org/obo/DOID_2064	vulvar syringoma	http://purl.obolibrary.org/obo/DOID_0060109	vulvar benign neoplasm		A vulvar benign neoplasm that is characterized by the comma tadpole shaped tail of dilated, cystic eccrine ducts, derives_from the eccrine sweat gland and presents as multiple, small, soft, skin-colored-to-yellowish papules, and has_symptom vulvar discomfort and has_symptom itching.
http://purl.obolibrary.org/obo/DOID_2066	vulvar angiokeratoma	http://purl.obolibrary.org/obo/DOID_0060109	vulvar benign neoplasm		A vulvar benign neoplasm that is characterized by numerous ectatic blood vessels present in the superficial dermis.
http://purl.obolibrary.org/obo/DOID_2072	vulvar squamous tumor	http://purl.obolibrary.org/obo/DOID_1245	vulva cancer		A vulva cancer that has_material_basis_in squamous tissue.
http://purl.obolibrary.org/obo/DOID_2075	minor vestibular glands adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		A vestibular gland benign neoplasm that is located_in the minor vestibular glands and is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.
http://purl.obolibrary.org/obo/DOID_2076	vulvar glandular tumor	http://purl.obolibrary.org/obo/DOID_1245	vulva cancer		A vulva cancer that has_material_basis_in glandular tissue.
http://purl.obolibrary.org/obo/DOID_2080	vulvar trichoepithelioma	http://purl.obolibrary.org/obo/DOID_0060109	vulvar benign neoplasm		A vulvar benign neoplasm that derives_from epithelial-mesenchymal origin cells. It is characterized by branching nests of basaloid cells, horn cysts, and abortive hair papillae. The tumors represent benign hamartomas of the pilosebaceous apparatus.
http://purl.obolibrary.org/obo/DOID_2093	vulvar melanoma	http://purl.obolibrary.org/obo/DOID_1245	vulva cancer		A vulva cancer that has_material_basis_in melanocytes.
http://purl.obolibrary.org/obo/DOID_2096	vulvar sarcoma	http://purl.obolibrary.org/obo/DOID_1245	vulva cancer		A vulva cancer that has_material_basis_in connective tissue.
http://purl.obolibrary.org/obo/DOID_2097	vulval Paget's disease	http://purl.obolibrary.org/obo/DOID_2098	vulva adenocarcinoma		A vulva adenocarcinoma that is characterized by distinctive large cells with prominent cytoplasm, referred to as Paget cells and is an intraepithelial neoplasm of epithelial origin expressing apocrine or eccrine glandular-like features.
http://purl.obolibrary.org/obo/DOID_2098	vulva adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		A vulva carcinoma that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_210	heel spur	http://purl.obolibrary.org/obo/DOID_203	exostosis		An exostosis that results_in an abnormal growth located_in calcaneus.
http://purl.obolibrary.org/obo/DOID_2101	vulva squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A vulva carcinoma and has_material_basis_in squamous cells and is located_in the epidermis of the vulvar tissue.
http://purl.obolibrary.org/obo/DOID_2106	myotonia congenita	http://purl.obolibrary.org/obo/DOID_66	muscle tissue disease		A muscle tissue disease that is characterized by slow muscle relaxation associated with hyperexcitation of the muscle fibres.
http://purl.obolibrary.org/obo/DOID_2112	cystoisosporiasis	http://purl.obolibrary.org/obo/DOID_2113	coccidiosis		A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss.
http://purl.obolibrary.org/obo/DOID_2120	focal dermal hypoplasia	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23.
http://purl.obolibrary.org/obo/DOID_2121	ectodermal dysplasia	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.
http://purl.obolibrary.org/obo/DOID_2122	pneumonic tularemia	http://purl.obolibrary.org/obo/DOID_850	lung disease		A tularemia that is located_in lungs. The bacteria are transmitted_by breathing dusts or aerosols containing the organisms. The infection has_symptom cough, has_symptom chest has_symptom pain, and has_symptom difficulty breathing.
http://purl.obolibrary.org/obo/DOID_2127	brain germinoma	http://purl.obolibrary.org/obo/DOID_1319	brain cancer		A brain cancer that is characterized by abnormally proliferating cells, derives_from germ cells.
http://purl.obolibrary.org/obo/DOID_2129	atypical teratoid rhabdoid tumor	http://purl.obolibrary.org/obo/DOID_1319	brain cancer		A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system.
http://purl.obolibrary.org/obo/DOID_2132	brain sarcoma	http://purl.obolibrary.org/obo/DOID_1319	brain cancer		A brain cancer that is characterized by abnormally proliferating cells, derives_from embryonic mesoderm.
http://purl.obolibrary.org/obo/DOID_2142	urethra leiomyoma	http://purl.obolibrary.org/obo/DOID_127	leiomyoma		An urethral benign neoplasm that derives_from smooth muscle cells.
http://purl.obolibrary.org/obo/DOID_2143	ovarian malignant mesothelioma	http://purl.obolibrary.org/obo/DOID_2394	ovarian cancer		An ovarian cancer that derives_from mesothelial tissue.
http://purl.obolibrary.org/obo/DOID_2145	malignant ovarian cyst	http://purl.obolibrary.org/obo/DOID_2394	ovarian cancer		An ovarian cancer that is characterized by cystic structure.
http://purl.obolibrary.org/obo/DOID_2146	ovary sarcoma	http://purl.obolibrary.org/obo/DOID_2394	ovarian cancer		An ovarian cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm.
http://purl.obolibrary.org/obo/DOID_2148	tuberculous oophoritis	http://purl.obolibrary.org/obo/DOID_2149	urogenital tuberculosis		An urogenital tuberculosis that results_in inflammtion located_in ovary.
http://purl.obolibrary.org/obo/DOID_2150	ovarian lymphoma	http://purl.obolibrary.org/obo/DOID_2394	ovarian cancer		An ovarian cancer that arises_from lymphocytes.
http://purl.obolibrary.org/obo/DOID_2151	malignant ovarian surface epithelial-stromal neoplasm	http://purl.obolibrary.org/obo/DOID_2152	ovary epithelial cancer		An ovary epithelial cancer that has_material_basis_in epithelial and stromal tissue and arises from the surface epithelium of the ovary.
http://purl.obolibrary.org/obo/DOID_2152	ovary epithelial cancer	http://purl.obolibrary.org/obo/DOID_305	carcinoma		An ovarian cancer that is derives_from ovarian surface epithelium.
http://purl.obolibrary.org/obo/DOID_2153	ovarian Wilms' cancer	http://purl.obolibrary.org/obo/DOID_2394	ovarian cancer		A malignant neoplasm of ovary and nephroblastoma that is located_in the ovaries.
http://purl.obolibrary.org/obo/DOID_2154	nephroblastoma	http://purl.obolibrary.org/obo/DOID_263	kidney cancer		A kidney cancer that affects the kidneys and typically occuring in children.
http://purl.obolibrary.org/obo/DOID_2156	ovarian germ cell cancer	http://purl.obolibrary.org/obo/DOID_2394	ovarian cancer		An ovarian cancer that originates in the germ (egg) cells of the ovary.
http://purl.obolibrary.org/obo/DOID_2174	ocular cancer	http://purl.obolibrary.org/obo/DOID_5614	eye disease		A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye.
http://purl.obolibrary.org/obo/DOID_221	acute perichondritis of pinna	http://purl.obolibrary.org/obo/DOID_222	perichondritis of auricle		A perichondritis of auricle with a sudden onset and a short course.
http://purl.obolibrary.org/obo/DOID_2211	factor XIII deficiency	http://purl.obolibrary.org/obo/DOID_1247	blood coagulation disease		A blood coagulation disease that is characterized by easy bleeding, has_symptom prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healing, and hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation of the F13A1 or F13B gene, which encodes Factor XIII, formally known as fibrin stabilizing factor.
http://purl.obolibrary.org/obo/DOID_2215	factor VII deficiency	http://purl.obolibrary.org/obo/DOID_1247	blood coagulation disease		A blood coagulation disease that is characterized by easy bleeding, has_symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade.
http://purl.obolibrary.org/obo/DOID_2217	Bernard-Soulier syndrome	http://purl.obolibrary.org/obo/DOID_1247	blood coagulation disease		A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has_material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib.
http://purl.obolibrary.org/obo/DOID_2219	Glanzmann's thrombasthenia	http://purl.obolibrary.org/obo/DOID_2218	blood platelet disease		A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32.
http://purl.obolibrary.org/obo/DOID_2222	factor X deficiency	http://purl.obolibrary.org/obo/DOID_1247	blood coagulation disease		A blood coagulation disease that is characterized by the partial or complete absence of factor X activity in the blood.
http://purl.obolibrary.org/obo/DOID_2224	essential thrombocythemia	http://purl.obolibrary.org/obo/DOID_2226	myeloproliferative neoplasm		A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets.
http://purl.obolibrary.org/obo/DOID_2226	myeloproliferative neoplasm	http://purl.obolibrary.org/obo/DOID_0070004	myeloid neoplasm		A myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood.
http://purl.obolibrary.org/obo/DOID_2228	thrombocytosis	http://purl.obolibrary.org/obo/DOID_2218	blood platelet disease		A blood platelet disease that is characterized by the presence of high platelet counts in the blood.
http://purl.obolibrary.org/obo/DOID_2229	factor XI deficiency	http://purl.obolibrary.org/obo/DOID_0061030	hemophilia		A hemophilia that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2.
http://purl.obolibrary.org/obo/DOID_2231	factor XII deficiency	http://purl.obolibrary.org/obo/DOID_1247	blood coagulation disease		A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33.
http://purl.obolibrary.org/obo/DOID_2235	prothrombin deficiency	http://purl.obolibrary.org/obo/DOID_2452	thrombophilia		A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11.
http://purl.obolibrary.org/obo/DOID_2236	congenital afibrinogenemia	http://purl.obolibrary.org/obo/DOID_1247	blood coagulation disease		A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I).
http://purl.obolibrary.org/obo/DOID_2247	spondylosis	http://purl.obolibrary.org/obo/DOID_0080010	bone structure disease		A bone structure disease that involves degeneration between vertebra located_in vertebral column.
http://purl.obolibrary.org/obo/DOID_2272	vulvovaginal candidiasis	http://purl.obolibrary.org/obo/DOID_1508	candidiasis		A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge.
http://purl.obolibrary.org/obo/DOID_2273	vulvovaginitis	http://purl.obolibrary.org/obo/DOID_229	female reproductive system disease		A female reproductive system disease that is characterized by inflammation of the vagina and vulva.
http://purl.obolibrary.org/obo/DOID_2275	pharyngitis	http://purl.obolibrary.org/obo/DOID_974	upper respiratory tract disease		An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as sore throat. The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever.
http://purl.obolibrary.org/obo/DOID_2277	gonadal disease	http://purl.obolibrary.org/obo/DOID_28	endocrine system disease		An endocrine system disease that is located_in the gonads.
http://purl.obolibrary.org/obo/DOID_2280	hidradenitis suppurativa	http://purl.obolibrary.org/obo/DOID_2282	hidradenitis		A hidradenitis that is characterized by chronic inflammation of the apocrine sweat glands, has_symptom painful nodules, abscesses, sinus tract formation, scarring, erythema, pruritis, and pain, and has_material_basis_in chronic inflammation of the apocrine sweat glands leading to recurrent folliculitis and an accompanying immune response that worsens inflammation.
http://purl.obolibrary.org/obo/DOID_2282	hidradenitis	http://purl.obolibrary.org/obo/DOID_1383	sweat gland disease		A sweat gland disease that is characterized by inflammation of the apocrine sweat glands and has_symptom erythema, edema, papules, plaques, pruritis, and pain.
http://purl.obolibrary.org/obo/DOID_2297	leptospirosis	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. The infection has symptom jaundice, has symptom chills, has symptom fever, has symptom muscle pain, and has symptom hepatomegaly.
http://purl.obolibrary.org/obo/DOID_230	lateral sclerosis	http://purl.obolibrary.org/obo/DOID_231	motor neuron disease		A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs.
http://purl.obolibrary.org/obo/DOID_2300	spondylolysis	http://purl.obolibrary.org/obo/DOID_0080010	bone structure disease		A bone structure disease that involves a defect located_in lumbar vertebral column.
http://purl.obolibrary.org/obo/DOID_2303	stereotypic movement disorder	http://purl.obolibrary.org/obo/DOID_0060038	specific developmental disorder		A specific developmental disorder that is characterized by repeated, rhythmic, purposeless movements or activities such as head banging, nail biting, or body rocking.
http://purl.obolibrary.org/obo/DOID_2312	nocardiosis	http://purl.obolibrary.org/obo/DOID_0050340	opportunistic bacterial infectious disease		An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy.
http://purl.obolibrary.org/obo/DOID_2314	malt worker's lung	http://purl.obolibrary.org/obo/DOID_841	extrinsic allergic alveolitis		An extrinsic allergic alveolitis which is caused by inhalation of fungal spores of Aspergillus clavatus and Aspergillus fumigatus from moldy barley.
http://purl.obolibrary.org/obo/DOID_2316	brain ischemia	http://purl.obolibrary.org/obo/DOID_6713	cerebrovascular disease		An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.
http://purl.obolibrary.org/obo/DOID_2320	obstructive lung disease	http://purl.obolibrary.org/obo/DOID_850	lung disease		A lung disease that is characterized by narrowing of pulmonary airways.
http://purl.obolibrary.org/obo/DOID_2326	gastroenteritis	http://purl.obolibrary.org/obo/DOID_77	gastrointestinal system disease		A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen.
http://purl.obolibrary.org/obo/DOID_2327	viral gastritis	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by viruses. The symptoms include abdominal pain, indigestion, ulcer formation, abdominal bloating, nausea and vomiting.
http://purl.obolibrary.org/obo/DOID_2338	mandibular cancer	http://purl.obolibrary.org/obo/DOID_1862	jaw cancer		A jaw cancer and mandibular disease that affects your lower jawbone.
http://purl.obolibrary.org/obo/DOID_2339	Crouzon syndrome	http://purl.obolibrary.org/obo/DOID_2340	craniosynostosis		A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene.
http://purl.obolibrary.org/obo/DOID_234	colon adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		A colon carcinoma that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_2347	generalized atherosclerosis	http://purl.obolibrary.org/obo/DOID_1936	atherosclerosis		An atherosclerosis that is not localized.
http://purl.obolibrary.org/obo/DOID_2348	arteriosclerotic cardiovascular disease	http://purl.obolibrary.org/obo/DOID_2349	arteriosclerosis		An arteriosclerosis that results in cardiovascular disease.
http://purl.obolibrary.org/obo/DOID_2352	hemochromatosis	http://purl.obolibrary.org/obo/DOID_896	metal metabolism disorder		A metal metabolism disorder characterized by the accumulation of iron in various organs of the body.
http://purl.obolibrary.org/obo/DOID_2354	myelophthisic anemia	http://purl.obolibrary.org/obo/DOID_12449	aplastic anemia		An aplastic anemia that is characterized by displacement of hemopoietic bone-marrow tissue either by fibrosis, tumors or granulomas.
http://purl.obolibrary.org/obo/DOID_2364	post-thrombotic syndrome	http://purl.obolibrary.org/obo/DOID_10128	venous insufficiency		A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis.
http://purl.obolibrary.org/obo/DOID_2366	West Nile fever	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in infection, has_material_basis_in West Nile virus (Orthoflavivirus nilense), which is transmitted_by Culex and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting.
http://purl.obolibrary.org/obo/DOID_2368	gangliosidosis	http://purl.obolibrary.org/obo/DOID_1927	sphingolipidosis		A sphingolipidosis that is characterized by the accumulation of lipids known as gangliosides.
http://purl.obolibrary.org/obo/DOID_2373	hereditary elliptocytosis	http://purl.obolibrary.org/obo/DOID_74	hematopoietic system disease		A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present.
http://purl.obolibrary.org/obo/DOID_2378	relapsing-remitting multiple sclerosis	http://purl.obolibrary.org/obo/DOID_2377	multiple sclerosis		A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.
http://purl.obolibrary.org/obo/DOID_2382	kernicterus	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease that is characterized by hyperbilirubinemia-induced brain dysfunction.
http://purl.obolibrary.org/obo/DOID_2384	Wernicke encephalopathy	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease that is characterized by the presence of neurological symptoms of ophthalmoplegia, ataxia, and confusion caused by biochemical lesions of the central nervous system after exhaustion of B-vitamin reserves, in particular thiamine (vitamin B1).
http://purl.obolibrary.org/obo/DOID_2401	clitoris cancer	http://purl.obolibrary.org/obo/DOID_1245	vulva cancer		A vulva cancer that is located_in the clitoris.
http://purl.obolibrary.org/obo/DOID_2409	rhinosporidiosis	http://purl.obolibrary.org/obo/DOID_0050291	parasitic Ichthyosporea infectious disease		A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed.
http://purl.obolibrary.org/obo/DOID_2426	gangliocytoma	http://purl.obolibrary.org/obo/DOID_0060090	central nervous system benign neoplasm		A central nervous system benign neoplasm that has_material_basis_in mature neurons, and is classified by the absence of neoplastic glial cells.
http://purl.obolibrary.org/obo/DOID_2431	glomus tumor	http://purl.obolibrary.org/obo/DOID_3850	hemangiopericytic tumor		A hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body.
http://purl.obolibrary.org/obo/DOID_2436	glomangioma	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A benign perivascular tumor that is a morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions.
http://purl.obolibrary.org/obo/DOID_2441	frontal sinus squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A squamous cell carcinoma that is located_in the frontal sinus.
http://purl.obolibrary.org/obo/DOID_2449	acromegaly	http://purl.obolibrary.org/obo/DOID_2444	hyperpituitarism		A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb.
http://purl.obolibrary.org/obo/DOID_2451	protein S deficiency	http://purl.obolibrary.org/obo/DOID_2452	thrombophilia		A thrombophilia that is characterized by increased risk of developing abnormal blood clots.
http://purl.obolibrary.org/obo/DOID_2455	angular blepharoconjunctivitis	http://purl.obolibrary.org/obo/DOID_2456	blepharoconjunctivitis		A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area.
http://purl.obolibrary.org/obo/DOID_2477	motor peripheral neuropathy	http://purl.obolibrary.org/obo/DOID_870	neuropathy		A neuropathy that is characterized by inflammation or degeneration of the peripheral motor nerves.
http://purl.obolibrary.org/obo/DOID_2479	central nervous system origin vertigo	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease that is characterized by vertigo caused by hemorrhagic insult, ischemic insult or mass lesion of the cerebellum, the vestibular nuclei, and the brainstem, has_symptom dizziness, has_symptom nausea, has_symptom vomiting and has_symptom difficulty walking.
http://purl.obolibrary.org/obo/DOID_248	trachea leiomyoma	http://purl.obolibrary.org/obo/DOID_3225	tracheal disease		A respiratory system benign neoplasm that derives_from smooth muscle cells and is located_in the trachea.
http://purl.obolibrary.org/obo/DOID_2491	sensory peripheral neuropathy	http://purl.obolibrary.org/obo/DOID_870	neuropathy		A neuropathy that involves damage to sensory nerves of the peripheral nervous system.
http://purl.obolibrary.org/obo/DOID_2508	Takayasu's arteritis	http://purl.obolibrary.org/obo/DOID_865	vasculitis		A vasculitis that involves inflammation of the aorta that carries blood from the heart to the rest of the body.
http://purl.obolibrary.org/obo/DOID_2510	Kluver-Bucy syndrome	http://purl.obolibrary.org/obo/DOID_10937	impulse control disorder		An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior.
http://purl.obolibrary.org/obo/DOID_2512	nevoid basal cell carcinoma syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities.
http://purl.obolibrary.org/obo/DOID_2513	basal cell carcinoma	http://purl.obolibrary.org/obo/DOID_3451	skin carcinoma		A skin carcinoma affecting basal cells.
http://purl.obolibrary.org/obo/DOID_252	alcoholic psychosis	http://purl.obolibrary.org/obo/DOID_251	alcohol-induced mental disorder		An alcohol-induced mental disorder involving prominent hallucinations and delusions occurring during or shortly after acute alcohol intoxication or withdrawal.
http://purl.obolibrary.org/obo/DOID_2526	prostate adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		A prostate carcinoma that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_2538	Landau-Kleffner syndrome	http://purl.obolibrary.org/obo/DOID_0050704	childhood electroclinical syndrome		A childhood electroclinical syndrome that is characterized by the loss of language comprehension (auditory verbal agnosia) and verbal expression (aphasia) in association with severely abnormal electroencephalographic (EEG) findings during sleep and clinical seizures in most patients.
http://purl.obolibrary.org/obo/DOID_2544	extratemporal epilepsy	http://purl.obolibrary.org/obo/DOID_1826	epilepsy		An epilepsy syndrome that is located_in an area of the brain other than the temporal lobe.
http://purl.obolibrary.org/obo/DOID_2548	reflex epilepsy	http://purl.obolibrary.org/obo/DOID_0050706	variable age at onset electroclinical syndrome		A variable age at onset electroclinical syndrome that is consistently induced by identifiable and objective-specific triggers, which may be an afferent stimulus or by the patient's own activity.
http://purl.obolibrary.org/obo/DOID_2556	relapsing polychondritis	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A chondromalacia that is characterized by recurrent inflammation of cartilage and other tissues throughout the body.
http://purl.obolibrary.org/obo/DOID_2559	opiate dependence	http://purl.obolibrary.org/obo/DOID_9974	drug dependence		A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.
http://purl.obolibrary.org/obo/DOID_2560	morphine dependence	http://purl.obolibrary.org/obo/DOID_2559	opiate dependence		An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance.
http://purl.obolibrary.org/obo/DOID_2565	macular corneal dystrophy	http://purl.obolibrary.org/obo/DOID_0060442	stromal dystrophy		A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea.
http://purl.obolibrary.org/obo/DOID_2571	Langerhans-cell histiocytosis	http://purl.obolibrary.org/obo/DOID_3405	histiocytosis		A histiocytosis that is characterized by clonal proliferation of Langerhans cells.
http://purl.obolibrary.org/obo/DOID_2575	barbiturate dependence	http://purl.obolibrary.org/obo/DOID_9974	drug dependence		A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance.
http://purl.obolibrary.org/obo/DOID_2582	acatalasia	http://purl.obolibrary.org/obo/DOID_906	peroxisomal disease		A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13.
http://purl.obolibrary.org/obo/DOID_2590	familial nephrotic syndrome	http://purl.obolibrary.org/obo/DOID_1184	nephrotic syndrome		A nephrotic syndrome that has_material_basis_in genetic mutations.
http://purl.obolibrary.org/obo/DOID_2600	laryngeal carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A larynx cancer that has_material_basis_in epithelial cells.
http://purl.obolibrary.org/obo/DOID_2609	adenomyoma	http://purl.obolibrary.org/obo/DOID_0060084	cell type benign neoplasm		A cell type benign neoplasm that has_material_basis_in gland and muscle components.
http://purl.obolibrary.org/obo/DOID_2616	Wolffian duct adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		A reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the region of the Wolffian duct.
http://purl.obolibrary.org/obo/DOID_262	kidney hemangiopericytoma	http://purl.obolibrary.org/obo/DOID_263	kidney cancer		A kidney cancer which is manifested in the kidney.
http://purl.obolibrary.org/obo/DOID_2621	autonomic nervous system neoplasm	http://purl.obolibrary.org/obo/DOID_1192	peripheral nervous system neoplasm		A peripheral nervous system neoplasm that is located_in the autonomic nervous system.
http://purl.obolibrary.org/obo/DOID_263	kidney cancer	http://purl.obolibrary.org/obo/DOID_557	kidney disease		A urinary system cancer that is located_in the kidney.
http://purl.obolibrary.org/obo/DOID_2632	papillary serous adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3112	papillary adenocarcinoma		A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies.
http://purl.obolibrary.org/obo/DOID_2634	cystadenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		An adenoma that forms a cyst.
http://purl.obolibrary.org/obo/DOID_2636	ovarian Brenner tumor	http://purl.obolibrary.org/obo/DOID_0060112	ovarian benign neoplasm		An ovarian benign neoplasm that has_material_basis_in the surface epithelium of the ovary.
http://purl.obolibrary.org/obo/DOID_2639	breast pericanalicular fibroadenoma	http://purl.obolibrary.org/obo/DOID_1618	breast fibroadenoma		A breast fibroadenoma that is characterized by stromal proliferation around epithelial structures.
http://purl.obolibrary.org/obo/DOID_264	hemangiopericytoma	http://purl.obolibrary.org/obo/DOID_3850	hemangiopericytic tumor		A hemangiopericytic tumor that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries.
http://purl.obolibrary.org/obo/DOID_2640	struma ovarii	http://purl.obolibrary.org/obo/DOID_0060112	ovarian benign neoplasm		An ovarian benign neoplasm that is composed either exclusively or predominantly of thyroid tissue.
http://purl.obolibrary.org/obo/DOID_2641	ovarian germ cell monodermal and highly specialized teratoma	http://purl.obolibrary.org/obo/DOID_5207	monodermal teratoma		A monodermal teratoma that has_material_basis_in germ cells that are highly specialized and is located_in the ovary.
http://purl.obolibrary.org/obo/DOID_2645	benign mesothelioma	http://purl.obolibrary.org/obo/DOID_0060084	cell type benign neoplasm		A cell type benign neoplasm that has_material_basis_in mesothelium.
http://purl.obolibrary.org/obo/DOID_2649	chondroblastoma	http://purl.obolibrary.org/obo/DOID_0060094	bone benign neoplasm		A connective tissue benign neoplasm that derives_from chondroblasts and begins in cartilage at the ends of long bones (thighbone, shinbone, humerus) close to the joints.
http://purl.obolibrary.org/obo/DOID_265	spleen angiosarcoma	http://purl.obolibrary.org/obo/DOID_672	spleen cancer		An angiosarcoma and hemangioma of intra-abdominal structure and malignant soft tissue neoplasm of the spleen that results_in a nonhematolymphoid malignant neoplasm of the spleen.
http://purl.obolibrary.org/obo/DOID_2656	breast intracanalicular fibroadenoma	http://purl.obolibrary.org/obo/DOID_1618	breast fibroadenoma		A breast fibroadenoma that is characterized by stromal proliferation compressing the epithelial structures into clefts.
http://purl.obolibrary.org/obo/DOID_2660	cystic teratoma	http://purl.obolibrary.org/obo/DOID_0080602	benign teratoma		A benign teratoma that is characterized by the presence of cysts or cystic spaces.
http://purl.obolibrary.org/obo/DOID_2661	myoepithelioma	http://purl.obolibrary.org/obo/DOID_2664	sweat gland benign neoplasm		A sweat gland benign neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland.
http://purl.obolibrary.org/obo/DOID_2671	transitional cell carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A carcinoma that derives_from transitional epithelial cells.
http://purl.obolibrary.org/obo/DOID_2673	adult cystic nephroma	http://purl.obolibrary.org/obo/DOID_0080615	nephroma		A nephroma that is characterized as a localized, well-circumscribed multilocular tumor lined by hobnail epithelium.
http://purl.obolibrary.org/obo/DOID_268	liver angiosarcoma	http://purl.obolibrary.org/obo/DOID_272	hepatic vascular disease		An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located_in the liver.
http://purl.obolibrary.org/obo/DOID_2683	adenofibroma	http://purl.obolibrary.org/obo/DOID_0060084	cell type benign neoplasm		A cell type benign neoplasm that is composed_of glandular and fibrous tissues, with a relatively large proportion of glands.
http://purl.obolibrary.org/obo/DOID_2687	skin sarcoma	http://purl.obolibrary.org/obo/DOID_4159	skin cancer		A sarcoma that is located_in the skin.
http://purl.obolibrary.org/obo/DOID_2689	lymphangiosarcoma	http://purl.obolibrary.org/obo/DOID_0060073	lymphatic system cancer		A lymphatic system cancer that has_material_basis_in endothelial cells located_in lymphatic vessels.
http://purl.obolibrary.org/obo/DOID_2691	myoma	http://purl.obolibrary.org/obo/DOID_0060095	uterine benign neoplasm		A muscle benign neoplasm that is characterized as benign hyperplastic lesions of uterine smooth muscle cells.
http://purl.obolibrary.org/obo/DOID_2696	Leydig cell tumor	http://purl.obolibrary.org/obo/DOID_192	sex cord-gonadal stromal tumor		A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells located_in ovary or testicle.
http://purl.obolibrary.org/obo/DOID_270	liver sarcoma	http://purl.obolibrary.org/obo/DOID_3571	liver cancer		A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver.
http://purl.obolibrary.org/obo/DOID_2700	mucinous adenofibroma	http://purl.obolibrary.org/obo/DOID_2683	adenofibroma		An adenofibroma that is characterized by the presence of mucin.
http://purl.obolibrary.org/obo/DOID_2708	mushroom workers' lung	http://purl.obolibrary.org/obo/DOID_841	extrinsic allergic alveolitis		An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes.
http://purl.obolibrary.org/obo/DOID_2710	sick building syndrome	http://purl.obolibrary.org/obo/DOID_841	extrinsic allergic alveolitis		An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building.
http://purl.obolibrary.org/obo/DOID_2717	Bloom syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.
http://purl.obolibrary.org/obo/DOID_2718	hemopneumothorax	http://purl.obolibrary.org/obo/DOID_1673	pneumothorax		A pneumothorax that is characterized by having air in the chest cavity and blood in the chest cavity.
http://purl.obolibrary.org/obo/DOID_2725	capillary hemangioma	http://purl.obolibrary.org/obo/DOID_930	orbital disease		A hemangioma that is characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells.
http://purl.obolibrary.org/obo/DOID_2729	dyskeratosis congenita	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer.
http://purl.obolibrary.org/obo/DOID_2730	epidermolysis bullosa	http://purl.obolibrary.org/obo/DOID_2731	vesiculobullous skin disease		A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin.
http://purl.obolibrary.org/obo/DOID_2732	Rothmund-Thomson syndrome	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24.
http://purl.obolibrary.org/obo/DOID_2736	Hajdu-Cheney syndrome	http://purl.obolibrary.org/obo/DOID_0080001	bone disease		A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the NOTCH2 gene on chromosome 1p12.
http://purl.obolibrary.org/obo/DOID_2738	pseudoxanthoma elasticum	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.
http://purl.obolibrary.org/obo/DOID_2739	Gilbert syndrome	http://purl.obolibrary.org/obo/DOID_2741	bilirubin metabolic disorder		A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.
http://purl.obolibrary.org/obo/DOID_2745	narcissistic personality disorder	http://purl.obolibrary.org/obo/DOID_1510	personality disorder		A personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity.
http://purl.obolibrary.org/obo/DOID_2746	glycogen storage disease V	http://purl.obolibrary.org/obo/DOID_2747	glycogen storage disease		A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_2748	glycogen storage disease III	http://purl.obolibrary.org/obo/DOID_2747	glycogen storage disease		A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21.
http://purl.obolibrary.org/obo/DOID_2749	glycogen storage disease Ia	http://purl.obolibrary.org/obo/DOID_0081329	glycogen storage disease I		A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC gene, which encodes glucose-6-phosphatase (G6Pase), on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_2750	glycogen storage disease IV	http://purl.obolibrary.org/obo/DOID_2747	glycogen storage disease		A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12.
http://purl.obolibrary.org/obo/DOID_2751	glycogen storage disease VIII	http://purl.obolibrary.org/obo/DOID_2747	glycogen storage disease		A glycogen storage disease that is characterized hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase and results from the lack of expression of phosphorylase-b-kinase activity.
http://purl.obolibrary.org/obo/DOID_2752	glycogen storage disease II	http://purl.obolibrary.org/obo/DOID_2747	glycogen storage disease		A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features.
http://purl.obolibrary.org/obo/DOID_2754	glycogen storage disease VI	http://purl.obolibrary.org/obo/DOID_2747	glycogen storage disease		A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation.
http://purl.obolibrary.org/obo/DOID_2755	Mycobacterium avium complex disease	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons.
http://purl.obolibrary.org/obo/DOID_2763	ethmoid sinus squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A squamous cell carcinoma that is located_in the ethmoid sinus.
http://purl.obolibrary.org/obo/DOID_2766	ethmoid sinus adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		An ethmoid sinus cancer that derives from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_2768	transient tic disorder	http://purl.obolibrary.org/obo/DOID_2769	tic disorder		A tic disorder that consists of multiple motor and/or phonic tics with duration of at least 4 weeks, but less than 12 months.
http://purl.obolibrary.org/obo/DOID_2772	irritant dermatitis	http://purl.obolibrary.org/obo/DOID_2773	contact dermatitis		A contact dermatitis that is characterized by a cutaneous inflammatory reaction to repeated contact with an irritant substance, friction, liquid, or adverse temperature that interacts with the skin and often has_symptom erythema, edema, scaling, pain, pruritis, or burning sensation.
http://purl.obolibrary.org/obo/DOID_2775	long bone adamantinoma	http://purl.obolibrary.org/obo/DOID_2776	adamantinoma		An adamantinoma that is located_in the long bones and results_in focal epithelial differentiation.
http://purl.obolibrary.org/obo/DOID_2776	adamantinoma	http://purl.obolibrary.org/obo/DOID_184	bone cancer		A bone cancer that is located_in almost exclusively in the long bones.
http://purl.obolibrary.org/obo/DOID_2784	lung sarcoma	http://purl.obolibrary.org/obo/DOID_1324	lung cancer		A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin.
http://purl.obolibrary.org/obo/DOID_2785	Dandy-Walker syndrome	http://purl.obolibrary.org/obo/DOID_2786	cerebellar disease		A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle.
http://purl.obolibrary.org/obo/DOID_2790	necatoriasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching.
http://purl.obolibrary.org/obo/DOID_2799	bronchiolitis obliterans	http://purl.obolibrary.org/obo/DOID_3082	interstitial lung disease		A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.
http://purl.obolibrary.org/obo/DOID_2800	acute interstitial pneumonia	http://purl.obolibrary.org/obo/DOID_2797	idiopathic interstitial pneumonia		A idiopathic interstitial pneumonia which develops suddenly and is severe. Initially, the lung shows edema, hyaline membranes, and interstitial acute inflammation. Later, it develops loose organizing fibrosis, mostly within alveolar septa and type II pneumocyte hyperplasia. Fever, cough, and difficulty breathing develop over 1 to 2 weeks, typically progressing to acute respiratory failure.
http://purl.obolibrary.org/obo/DOID_2801	nonspecific interstitial pneumonia	http://purl.obolibrary.org/obo/DOID_2797	idiopathic interstitial pneumonia		An idiopathic interstitial pneumonia that occurs mainly in women, people who do not smoke, and people younger than 50 years with no known cause or risk factors. Lung biopsies may show predominantly interstitial inflammation or fibrosis or a combination of inflammation and fibrosis. A dry cough and shortness of breath develop over 6 to 18 months. Low-grade fever and a feeling of illness (malaise) may occur.
http://purl.obolibrary.org/obo/DOID_2810	middle lobe syndrome	http://purl.obolibrary.org/obo/DOID_850	lung disease		A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection.
http://purl.obolibrary.org/obo/DOID_2815	cranial nerve malignant neoplasm	http://purl.obolibrary.org/obo/DOID_5656	cranial nerve disease		A central nervous system cancer that affects a cranial nerve, develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells.
http://purl.obolibrary.org/obo/DOID_2828	acalculous cholecystitis	http://purl.obolibrary.org/obo/DOID_1949	cholecystitis		A cholecystitis characterized by the absence of gallstones.
http://purl.obolibrary.org/obo/DOID_2832	geotrichosis	http://purl.obolibrary.org/obo/DOID_2473	opportunistic mycosis		An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people.
http://purl.obolibrary.org/obo/DOID_2846	bruxism	http://purl.obolibrary.org/obo/DOID_535	sleep disorder		A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping.
http://purl.obolibrary.org/obo/DOID_2855	hyperthyroxinemia	http://purl.obolibrary.org/obo/DOID_50	thyroid gland disease		A thyroid gland disease that is characterized by elevated thyroxine levels in the blood.
http://purl.obolibrary.org/obo/DOID_2870	endometrial adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		An endometrial carcinoma that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_2871	endometrial carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A endometrial cancer that is located_in the tissue lining the uterus.
http://purl.obolibrary.org/obo/DOID_2876	laryngeal squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A laryngeal carcinoma that has_material_basis_in squamous cells.
http://purl.obolibrary.org/obo/DOID_2877	larynx sarcoma	http://purl.obolibrary.org/obo/DOID_2596	larynx cancer		A larynx cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm.
http://purl.obolibrary.org/obo/DOID_288	endometriosis of uterus	http://purl.obolibrary.org/obo/DOID_345	uterine disease		A uterine disease that is characterized by the presence of endometrial tissue grows outside of the endometrium, such as into the myometrium.
http://purl.obolibrary.org/obo/DOID_2883	prostatic adenoma	http://purl.obolibrary.org/obo/DOID_47	prostate disease		A male reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the prostate.
http://purl.obolibrary.org/obo/DOID_2887	prostate leiomyoma	http://purl.obolibrary.org/obo/DOID_47	prostate disease		A male reproductive organ benign neoplasm that derives_from smooth muscle cells and that is located_in the prostate.
http://purl.obolibrary.org/obo/DOID_2891	thyroid adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		An endocrine organ benign neoplasm that is located_in the thyroid and derives_from glandular epithelial cells.
http://purl.obolibrary.org/obo/DOID_2892	exocervical carcinoma	http://purl.obolibrary.org/obo/DOID_2893	cervix carcinoma		A cervix carcinoma that is located_in the exocervix.
http://purl.obolibrary.org/obo/DOID_2893	cervix carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
http://purl.obolibrary.org/obo/DOID_2907	Goldenhar syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.
http://purl.obolibrary.org/obo/DOID_2908	Treacher Collins syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities.
http://purl.obolibrary.org/obo/DOID_2913	acute pancreatitis	http://purl.obolibrary.org/obo/DOID_4989	pancreatitis		A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock.
http://purl.obolibrary.org/obo/DOID_2917	cryoglobulinemia	http://purl.obolibrary.org/obo/DOID_2916	hypersensitivity reaction type IV disease		A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures.
http://purl.obolibrary.org/obo/DOID_2926	Klippel-Trenaunay syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.
http://purl.obolibrary.org/obo/DOID_2929	Newcastle disease	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Newcastle disease virus (Orthoavulavirus javaense), which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds.
http://purl.obolibrary.org/obo/DOID_2934	aleutian mink disease	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease parvovirus (Amdoparvovirus carnivoran1, Amdoparvovirus carnivoran9, or Amdoparvovirus carnivoran10). The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia.
http://purl.obolibrary.org/obo/DOID_2935	Chediak-Higashi syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42.
http://purl.obolibrary.org/obo/DOID_2938	Epstein-Barr virus infectious disease	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that has_material_basis_in Human gammaherpesvirus 4 (Lymphocryptovirus humangamma4).
http://purl.obolibrary.org/obo/DOID_2942	bronchiolitis	http://purl.obolibrary.org/obo/DOID_850	lung disease		A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen.
http://purl.obolibrary.org/obo/DOID_2945	severe acute respiratory syndrome	http://purl.obolibrary.org/obo/DOID_0080599	Coronavirus infectious disease		A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.
http://purl.obolibrary.org/obo/DOID_295	eye carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		An ocular cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells and arises_from the tissues that cover structures located_in the eye.
http://purl.obolibrary.org/obo/DOID_2957	pulmonary tuberculosis	http://purl.obolibrary.org/obo/DOID_850	lung disease		A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.
http://purl.obolibrary.org/obo/DOID_2960	photosensitive trichothiodystrophy	http://purl.obolibrary.org/obo/DOID_0111866	trichothiodystrophy		A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight.
http://purl.obolibrary.org/obo/DOID_2962	Cockayne syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development.
http://purl.obolibrary.org/obo/DOID_2964	periarthritis	http://purl.obolibrary.org/obo/DOID_848	arthritis		An arthritis that is characterized by inflammation of the tissues surrounding a joint. It is a common cause of joint pain and stiffness.
http://purl.obolibrary.org/obo/DOID_2973	kidney cortex necrosis	http://purl.obolibrary.org/obo/DOID_0080616	kidney cortex disease		A kidney cortex disease that is characterized by death of the tissue in the outer part of the kidney that results from blockage of the small arteries that supply blood to the cortex and that causes acute kidney injury.
http://purl.obolibrary.org/obo/DOID_2975	cystic kidney disease	http://purl.obolibrary.org/obo/DOID_557	kidney disease		A kidney disease that is characterized by the formation of cysts (fluid-filled sacs) in and around the kidney.
http://purl.obolibrary.org/obo/DOID_2977	primary hyperoxaluria	http://purl.obolibrary.org/obo/DOID_2978	carbohydrate metabolic disorder		A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones.
http://purl.obolibrary.org/obo/DOID_298	lacrimal gland adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_2986	IgA glomerulonephritis	http://purl.obolibrary.org/obo/DOID_2921	glomerulonephritis		A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.
http://purl.obolibrary.org/obo/DOID_2987	familial Mediterranean fever	http://purl.obolibrary.org/obo/DOID_0051000	autoinflammatory disease		An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.
http://purl.obolibrary.org/obo/DOID_2988	antiphospholipid syndrome	http://purl.obolibrary.org/obo/DOID_0060051	autoimmune disease of cardiovascular system		An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin).
http://purl.obolibrary.org/obo/DOID_2994	germ cell cancer	http://purl.obolibrary.org/obo/DOID_0050687	cell type cancer		A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from germ cells.
http://purl.obolibrary.org/obo/DOID_2997	Sertoli-Leydig cell tumor	http://purl.obolibrary.org/obo/DOID_192	sex cord-gonadal stromal tumor		A sex cord-gonadal stromal tumor characterized by variable proportions of Sertoli cells, Leydig cells, primitive gonadal stroma and/or heterologous elements located_in the ovaries and testicles.
http://purl.obolibrary.org/obo/DOID_2999	granulosa cell tumor	http://purl.obolibrary.org/obo/DOID_192	sex cord-gonadal stromal tumor		A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma.
http://purl.obolibrary.org/obo/DOID_3001	female reproductive endometrioid cancer	http://purl.obolibrary.org/obo/DOID_120	female reproductive organ cancer		A female reproductive organ cancer that is characterized by a resemblance to endometrium.
http://purl.obolibrary.org/obo/DOID_3002	ovary neuroendocrine neoplasm	http://purl.obolibrary.org/obo/DOID_2394	ovarian cancer		An ovarian cancer that has_material_basis_in nuroendocrine cells.
http://purl.obolibrary.org/obo/DOID_3003	nipple benign neoplasm	http://purl.obolibrary.org/obo/DOID_0060082	breast benign neoplasm		A breast benign neoplasm that is located_in the nipple.
http://purl.obolibrary.org/obo/DOID_3007	breast ductal carcinoma	http://purl.obolibrary.org/obo/DOID_3459	breast carcinoma		A breast carcinoma that derives_from the lining of milk ducts.
http://purl.obolibrary.org/obo/DOID_3008	invasive ductal carcinoma	http://purl.obolibrary.org/obo/DOID_3007	breast ductal carcinoma		A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.
http://purl.obolibrary.org/obo/DOID_3009	breast neuroendocrine neoplasm	http://purl.obolibrary.org/obo/DOID_0060082	breast benign neoplasm		A breast benign neoplasm that forms from cells that release hormones into the blood in response to a signal from the nervous system.
http://purl.obolibrary.org/obo/DOID_3010	lobular neoplasia	http://purl.obolibrary.org/obo/DOID_8791	breast carcinoma in situ		A breast carcinoma in situ that is characterized by abnormal cells are found in the lobules (glands that make milk) of the breast.
http://purl.obolibrary.org/obo/DOID_3011	breast granular cell tumor	http://purl.obolibrary.org/obo/DOID_1612	breast cancer		A breast cancer that is believed to arises_from Schwann cells.
http://purl.obolibrary.org/obo/DOID_3012	Li-Fraumeni syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata.
http://purl.obolibrary.org/obo/DOID_3016	breast malignant phyllodes tumor	http://purl.obolibrary.org/obo/DOID_1612	breast cancer		A breast cancer that is characterized by a prominent infiltrative border, unequivocal sarcomatous areas, and stromal overgrowth and arises_from the stroma, lined by an epithelial and myoepithelial bilayer, forming a leaflike structure. They tend to grow rapidly and present in middle-aged women (40s-50s).
http://purl.obolibrary.org/obo/DOID_3017	breast sarcoma	http://purl.obolibrary.org/obo/DOID_1612	breast cancer		A breast cancer that has_material_basis_in abnormally proliferating cells derives_from mesenchymal cells.
http://purl.obolibrary.org/obo/DOID_3025	acinar cell carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells.
http://purl.obolibrary.org/obo/DOID_3030	mucinous adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.
http://purl.obolibrary.org/obo/DOID_3039	cecum adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		A cecum carcinoma that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_3042	allergic contact dermatitis	http://purl.obolibrary.org/obo/DOID_1205	allergic disease		A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign.
http://purl.obolibrary.org/obo/DOID_3047	Wissler-Fanconi syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by true sepsis, acute rheumatic fever, rheumatoid arthritis, and adult onset Still’s disease.
http://purl.obolibrary.org/obo/DOID_3049	Churg-Strauss syndrome	http://purl.obolibrary.org/obo/DOID_865	vasculitis		A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding.
http://purl.obolibrary.org/obo/DOID_3052	Balkan nephropathy	http://purl.obolibrary.org/obo/DOID_1063	interstitial nephritis		An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria.
http://purl.obolibrary.org/obo/DOID_3055	paratyphoid fever	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly.
http://purl.obolibrary.org/obo/DOID_3069	malignant astrocytoma	http://purl.obolibrary.org/obo/DOID_3620	central nervous system cancer		A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord.
http://purl.obolibrary.org/obo/DOID_3071	gliosarcoma	http://purl.obolibrary.org/obo/DOID_3068	glioblastoma		A gliomablastoma that is characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation.
http://purl.obolibrary.org/obo/DOID_3073	brain glioblastoma multiforme	http://purl.obolibrary.org/obo/DOID_0060108	brain glioma		A brain glioma that has_material_basis_in abnormally proliferating cells derives_from glial cells, has_symptom seizure, headaches, nausea and vomiting, memory loss, changes to personality, mood or concentration; and localized neurological problems.
http://purl.obolibrary.org/obo/DOID_3074	giant cell glioblastoma	http://purl.obolibrary.org/obo/DOID_3068	glioblastoma		A glioblastoma that is characterized by a prevalence of bizarre, multinucleated giant cells.
http://purl.obolibrary.org/obo/DOID_3076	adult astrocytic tumor	http://purl.obolibrary.org/obo/DOID_3069	malignant astrocytoma		A malignant astrocytoma that occurs during adulthood.
http://purl.obolibrary.org/obo/DOID_3078	anaplastic astrocytoma	http://purl.obolibrary.org/obo/DOID_3069	malignant astrocytoma		A malignant astrocytoma that is characterized by cells with regular, round to oval nuclei.
http://purl.obolibrary.org/obo/DOID_3083	chronic obstructive pulmonary disease	http://purl.obolibrary.org/obo/DOID_2320	obstructive lung disease		An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.
http://purl.obolibrary.org/obo/DOID_3091	Acinetobacter infectious disease	http://purl.obolibrary.org/obo/DOID_0050340	opportunistic bacterial infectious disease		An opportunistic bacterial infectious disease that has_material_basis_in Acinetobacter.
http://purl.obolibrary.org/obo/DOID_3095	germ cell and embryonal cancer	http://purl.obolibrary.org/obo/DOID_1115	sarcoma		A germ cell cancer that is derives_from a mixture of germs cells and embryonal cells.
http://purl.obolibrary.org/obo/DOID_3098	small cell sarcoma	http://purl.obolibrary.org/obo/DOID_1115	sarcoma		A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm.
http://purl.obolibrary.org/obo/DOID_3103	thoracic outlet syndrome	http://purl.obolibrary.org/obo/DOID_178	vascular disease		A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles.
http://purl.obolibrary.org/obo/DOID_3107	toxascariasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with Toxascaris leonina causing damage to the lining of the intestine. The symptoms include diarrhea, vomiting and loss of appetite.
http://purl.obolibrary.org/obo/DOID_3108	ascaridiasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia.
http://purl.obolibrary.org/obo/DOID_3109	idiopathic CD4-positive T-lymphocytopenia	http://purl.obolibrary.org/obo/DOID_614	lymphopenia		A lymphopenia that is caused by a reduction of CD4+ T lymphocytes.
http://purl.obolibrary.org/obo/DOID_3110	papillary cystadenocarcinoma	http://purl.obolibrary.org/obo/DOID_3111	cystadenocarcinoma		A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections.
http://purl.obolibrary.org/obo/DOID_3111	cystadenocarcinoma	http://purl.obolibrary.org/obo/DOID_60004	malignant cystadenoma		An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed.
http://purl.obolibrary.org/obo/DOID_3112	papillary adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures and exhibit compressive, destructive growth that replaces the normal tissue.
http://purl.obolibrary.org/obo/DOID_3113	papillary carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A carcinoma that is derives_from epithelial cells with finger like projections.
http://purl.obolibrary.org/obo/DOID_3114	serous cystadenocarcinoma	http://purl.obolibrary.org/obo/DOID_3111	cystadenocarcinoma		A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.
http://purl.obolibrary.org/obo/DOID_3118	hepatobiliary disease	http://purl.obolibrary.org/obo/DOID_77	gastrointestinal system disease		A gastrointestinal system disease that is located_in the liver and/or biliary tract.
http://purl.obolibrary.org/obo/DOID_312	tenosynovitis of foot and ankle	http://purl.obolibrary.org/obo/DOID_970	tenosynovitis		A tenosynovitis that is located in the foot and ankle.
http://purl.obolibrary.org/obo/DOID_3120	gallbladder papillomatosis	http://purl.obolibrary.org/obo/DOID_2615	papilloma		A gallbladder benign neoplasm composed of epithelial tissue on papillae of vascularized connective tissue.
http://purl.obolibrary.org/obo/DOID_3125	multiple endocrine neoplasia	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by tumors in at least two endocrine glands.
http://purl.obolibrary.org/obo/DOID_3127	proctitis	http://purl.obolibrary.org/obo/DOID_1285	rectal disease		A rectal disease that involves inflammation of the rectal mucosa, which results from infection, inflammatory bowel disease, or radiation. Sexually transmitted pathogens (Neisseria gonorrhoeae, Chlamydia trachomatis, herpes simplex virus 1 and 2, Treponema pallidum) and enteric pathogens (Campylobacter, Shigella, Salmonella) are involved in the disease. Symptoms are rectal discomfort and bleeding.
http://purl.obolibrary.org/obo/DOID_3132	porphyria cutanea tarda	http://purl.obolibrary.org/obo/DOID_3133	acute porphyria		An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin.
http://purl.obolibrary.org/obo/DOID_3138	acanthosis nigricans	http://purl.obolibrary.org/obo/DOID_10123	pigmentation disease		A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas.
http://purl.obolibrary.org/obo/DOID_3140	scleredema adultorum	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease that is characterized by induration of the skin, especially of the neck and upper trunk, has_symptom skin hardening or stiffening, and is associated with infections (especially streptococcal), hematologic malignancies, diabetes, and adverse drug reactions.
http://purl.obolibrary.org/obo/DOID_3141	mucinoses	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A connective tissue disease characterized by accumulation of glycosaminoglycan located_in the dermal tissue.
http://purl.obolibrary.org/obo/DOID_3144	cutis laxa	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity.
http://purl.obolibrary.org/obo/DOID_3145	hyperlipoproteinemia type III	http://purl.obolibrary.org/obo/DOID_1168	familial hyperlipidemia		A familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_3156	hypomelanosis of Ito	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease that is characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation).
http://purl.obolibrary.org/obo/DOID_3162	malignant spindle cell melanoma	http://purl.obolibrary.org/obo/DOID_1909	melanoma		A melanoma that is composed of spindled neoplastic cells arranged in sheets and fascicles.
http://purl.obolibrary.org/obo/DOID_3173	fallopian tube serous papilloma	http://purl.obolibrary.org/obo/DOID_0060111	fallopian tube benign neoplasm		A fallopian tube benign neoplasm that has_material_basis_in the serosa and is characterized by exophytic growth.
http://purl.obolibrary.org/obo/DOID_3178	skin papilloma	http://purl.obolibrary.org/obo/DOID_3165	skin benign neoplasm		A skin benign neoplasm that is composed of epithelial cells and a fibrous stalk.
http://purl.obolibrary.org/obo/DOID_3185	spinal cord glioma	http://purl.obolibrary.org/obo/DOID_5612	spinal cancer		A spinal cancer that is located in the spinal cord and has_material_basis_in glial cells.
http://purl.obolibrary.org/obo/DOID_3191	nemaline myopathy	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies.
http://purl.obolibrary.org/obo/DOID_3193	peripheral nerve sheath neoplasm	http://purl.obolibrary.org/obo/DOID_1192	peripheral nervous system neoplasm		A peripheral nervous system neoplasm that is located in the connective tissue surrounding nerves.
http://purl.obolibrary.org/obo/DOID_3196	cellular schwannoma	http://purl.obolibrary.org/obo/DOID_3192	neurilemmoma		A neurilemmoma with a predominantly cellular growth but no Verocay bodies.
http://purl.obolibrary.org/obo/DOID_3197	schwannoma of twelfth cranial nerve	http://purl.obolibrary.org/obo/DOID_3192	neurilemmoma		A neurilemmoma that is located_in the 12th cranial nerve.
http://purl.obolibrary.org/obo/DOID_3200	cerebellopontine angle tumor	http://purl.obolibrary.org/obo/DOID_4203	brain stem cancer		A brain stem cancer that is characterized by neoplasms in the fossa located_in cerebellopontine angle.
http://purl.obolibrary.org/obo/DOID_3204	schwannomatosis	http://purl.obolibrary.org/obo/DOID_0080690	RASopathy		A RASopathy characterized by the development of schwannomas or hybrid nerve sheath tumors.
http://purl.obolibrary.org/obo/DOID_321	HTLV-1-associated myelopathy/tropical spastic paraparesis	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms.
http://purl.obolibrary.org/obo/DOID_3210	Pelizaeus-Merzbacher disease	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.
http://purl.obolibrary.org/obo/DOID_322	myelitis	http://purl.obolibrary.org/obo/DOID_319	spinal cord disease		A spinal cord disease that is characterized by inflammation of the white matter or gray matter of the spinal cord.
http://purl.obolibrary.org/obo/DOID_3240	aspiration pneumonitis	http://purl.obolibrary.org/obo/DOID_552	pneumonia		A pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. This syndrome occurs in patients who have a marked disturbance of consciousness such as that resulting from a drug overdose, seizures, a massive cerebrovascular accident, or the use of anesthesia. Aspiration of gastric contents results in a chemical burn of the tracheobronchial tree and pulmonary parenchyma, causing an intense parenchymal inflammatory reaction. The disease has_symptom non-productive cough, has_symptom tachypnea, has_symptom bronchospasm, has_symptom bloody sputum, has_symptom frothy sputum, or has_symptom respiratory distress, 2-5 hrs after aspiration.
http://purl.obolibrary.org/obo/DOID_3241	lipid pneumonia	http://purl.obolibrary.org/obo/DOID_3240	aspiration pneumonitis		An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent.
http://purl.obolibrary.org/obo/DOID_3247	rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_1115	sarcoma		A skeletal muscle cancer that arise from skeletal muscle progenitors.
http://purl.obolibrary.org/obo/DOID_3251	prostate embryonal rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_3252	prostate rhabdomyosarcoma		A prostate rhabdomyosarcoma that is most common in children and that is characterized by a high degree of malignancy, both local rapid growth with formation of large pelvic masses, often leading to renal failure due to urethral obstruction, and systemic spread, commonly to the lungs, liver and bone.
http://purl.obolibrary.org/obo/DOID_3252	prostate rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_4054	prostate sarcoma		A rhabdomyosarcoma and sarcoma of prostate that is located_in the prostate.
http://purl.obolibrary.org/obo/DOID_3254	bile duct rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_4606	bile duct cancer		A rhabdomyosarcoma and sarcoma of bile duct that is located_in the bile duct.
http://purl.obolibrary.org/obo/DOID_3258	orbit embryonal rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_3259	orbit rhabdomyosarcoma		An orbit rhabdomyosarcoma that is characterized by elongated to round spindle cells with features of skeletal muscle in different stages of embryogenesis with a highly eosiniphilic cytoplasm and hyperchromatic nuclei.
http://purl.obolibrary.org/obo/DOID_3259	orbit rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_9987	orbit sarcoma		An orbit sarcoma that is that arises from primitive pleuripotential mesenchymal cells that possess the ability to differentiate into striated muscle, most often in young children.
http://purl.obolibrary.org/obo/DOID_3260	spindle cell rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_3247	rhabdomyosarcoma		A rhabdomyosarcoma that is characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck.
http://purl.obolibrary.org/obo/DOID_3261	autosomal dominant hyper-IgE syndrome 1 with recurrent infections	http://purl.obolibrary.org/obo/DOID_0080545	hyper IgE syndrome		A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_3262	phagocyte bactericidal dysfunction	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection.
http://purl.obolibrary.org/obo/DOID_3263	piebaldism	http://purl.obolibrary.org/obo/DOID_16	integumentary system disease		An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in the KIT gene on chromosome 4q12.
http://purl.obolibrary.org/obo/DOID_3264	subacute leukemia	http://purl.obolibrary.org/obo/DOID_1240	leukemia		A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity.
http://purl.obolibrary.org/obo/DOID_3265	chronic granulomatous disease	http://purl.obolibrary.org/obo/DOID_3262	phagocyte bactericidal dysfunction		A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, liver, lymph nodes, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed.
http://purl.obolibrary.org/obo/DOID_3267	mucinous ovarian cystadenoma	http://purl.obolibrary.org/obo/DOID_3269	ovarian cystadenoma		An ovarian cystadenoma that is characterized by the presence of mucin.
http://purl.obolibrary.org/obo/DOID_3269	ovarian cystadenoma	http://purl.obolibrary.org/obo/DOID_0060112	ovarian benign neoplasm		An ovarian benign neoplasm that has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed.
http://purl.obolibrary.org/obo/DOID_3274	proliferative type fibrocystic change of breast	http://purl.obolibrary.org/obo/DOID_10354	breast fibrocystic disease		A breast fibrocystic disease that is characterized by the presence of epithelial cell hyperplasia and the absence of epithelial atypia.
http://purl.obolibrary.org/obo/DOID_3275	thymoma	http://purl.obolibrary.org/obo/DOID_3277	thymus cancer		A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus.
http://purl.obolibrary.org/obo/DOID_3282	thymoma type B	http://purl.obolibrary.org/obo/DOID_3275	thymoma		A thymoma that is an epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia.
http://purl.obolibrary.org/obo/DOID_3284	thymic carcinoma	http://purl.obolibrary.org/obo/DOID_3277	thymus cancer		A thymus cancer that derives_from epithelial cells. The tumor cells in a thymic carcinoma look very different from the normal cells of the thymus, grow more quickly, and have usually spread to other parts of the body when the cancer is found.
http://purl.obolibrary.org/obo/DOID_3292	mpox	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results in infection of primates, rodents and humans, located in skin, has_material_basis_in Monkeypox virus (Orthopoxvirus monkeypox), which is transmitted by contact with the animal's blood, body fluids, rash, or with the body fluids of a sick person, transmitted by fomites, and transmitted by respiratory droplets. The infection has symptom fever, has symptom muscle ache, has symptom headache, and has symptom lymphadenopathy.
http://purl.obolibrary.org/obo/DOID_3298	vaccinia	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in infection, located_in skin, has_material_basis_in Vaccinia virus (Orthopoxvirus vaccinia), which is used as a live vaccine against smallpox. The virus is transmitted_by contact with the vaccination site before it has healed, or transmitted_by fomites that have been contaminated with live virus from the vaccination site. The infection has_symptom rash, has_symptom fever, and has_symptom body aches.
http://purl.obolibrary.org/obo/DOID_3301	gonadoblastoma	http://purl.obolibrary.org/obo/DOID_0060084	cell type benign neoplasm		A cell type benign neoplasm that is composed_of a mixture of gonadal elements, such as large primordial germ cells, immature Sertoli cells or granulosa cells of the sex cord, and gonadal stromal cells (which comprises the granulosa, theca, and fibrocyte cells).
http://purl.obolibrary.org/obo/DOID_3303	notochordal cancer	http://purl.obolibrary.org/obo/DOID_184	bone cancer		An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord.
http://purl.obolibrary.org/obo/DOID_3304	germinoma	http://purl.obolibrary.org/obo/DOID_2994	germ cell cancer		A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain.
http://purl.obolibrary.org/obo/DOID_3305	teratocarcinoma	http://purl.obolibrary.org/obo/DOID_3095	germ cell and embryonal cancer		A mixed germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both.
http://purl.obolibrary.org/obo/DOID_3307	teratoma	http://purl.obolibrary.org/obo/DOID_3095	germ cell and embryonal cancer		A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers.
http://purl.obolibrary.org/obo/DOID_3308	embryonal carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes.
http://purl.obolibrary.org/obo/DOID_3309	neurodermatitis	http://purl.obolibrary.org/obo/DOID_2723	dermatitis		A dermatitis that is characterized by chronic itching or scaling.
http://purl.obolibrary.org/obo/DOID_3314	angiomyolipoma	http://purl.obolibrary.org/obo/DOID_0060084	cell type benign neoplasm		A cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs and is derived from perivascular epithelioid cells.
http://purl.obolibrary.org/obo/DOID_3319	lymphangioleiomyomatosis	http://purl.obolibrary.org/obo/DOID_850	lung disease		A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas.
http://purl.obolibrary.org/obo/DOID_3320	Tay-Sachs disease	http://purl.obolibrary.org/obo/DOID_3321	GM2 gangliosidosis		A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.
http://purl.obolibrary.org/obo/DOID_3321	GM2 gangliosidosis	http://purl.obolibrary.org/obo/DOID_2368	gangliosidosis		A gangliosidosis that is characterized by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes.
http://purl.obolibrary.org/obo/DOID_3322	GM1 gangliosidosis	http://purl.obolibrary.org/obo/DOID_2368	gangliosidosis		A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside.
http://purl.obolibrary.org/obo/DOID_3323	Sandhoff disease	http://purl.obolibrary.org/obo/DOID_3321	GM2 gangliosidosis		A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13.
http://purl.obolibrary.org/obo/DOID_3329	benign epilepsy with centrotemporal spikes	http://purl.obolibrary.org/obo/DOID_0050704	childhood electroclinical syndrome		A childhood electroclinical syndrome characterized by partial seizures involving the rolandic area of the brain and electroencephalographic centrotemporal sharp waves.
http://purl.obolibrary.org/obo/DOID_3332	haemonchiasis	http://purl.obolibrary.org/obo/DOID_1255	trichostrongyloidiasis		A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue.
http://purl.obolibrary.org/obo/DOID_334	histrionic personality disorder	http://purl.obolibrary.org/obo/DOID_1510	personality disorder		A personality disorder that is characterized by a pattern of excessive emotionality and attention-seeking, including an excessive need for approval and inappropriately seductive behavior, usually beginning in early adulthood.
http://purl.obolibrary.org/obo/DOID_3341	osteitis fibrosa	http://purl.obolibrary.org/obo/DOID_0080011	bone resorption disease		A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone.
http://purl.obolibrary.org/obo/DOID_3343	glycoproteinosis	http://purl.obolibrary.org/obo/DOID_0080488	mucolipidosis		A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).
http://purl.obolibrary.org/obo/DOID_3345	xanthomatosis	http://purl.obolibrary.org/obo/DOID_9455	lipid storage disease		A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts.
http://purl.obolibrary.org/obo/DOID_3347	osteosarcoma	http://purl.obolibrary.org/obo/DOID_0080639	bone sarcoma		A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).
http://purl.obolibrary.org/obo/DOID_3354	fibrosarcoma of bone	http://purl.obolibrary.org/obo/DOID_0080639	bone sarcoma		A bone sarcoma characterized by a herringbone or fascicular disposition of atypical, monomorphic fibroblasts and is always negative for any specific marker.
http://purl.obolibrary.org/obo/DOID_3355	fibrosarcoma	http://purl.obolibrary.org/obo/DOID_201	connective tissue cancer		A connective tissue cancer that has_material_basis_in fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern.
http://purl.obolibrary.org/obo/DOID_3356	localized osteosarcoma	http://purl.obolibrary.org/obo/DOID_3347	osteosarcoma		An osteosarcoma that is confined to a specific site without evidence of spread to other anatomic sites.
http://purl.obolibrary.org/obo/DOID_3357	extraosseous osteosarcoma	http://purl.obolibrary.org/obo/DOID_3347	osteosarcoma		An osteosarcoma arising from the soft tissue.
http://purl.obolibrary.org/obo/DOID_3368	Ewing sarcoma of bone	http://purl.obolibrary.org/obo/DOID_3369	Ewing sarcoma		A peripheral primitive neuroectodermal tumor that is located_in bone.
http://purl.obolibrary.org/obo/DOID_3376	bone osteosarcoma	http://purl.obolibrary.org/obo/DOID_3347	osteosarcoma		An osteosarcoma that is an usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs.
http://purl.obolibrary.org/obo/DOID_3382	liposarcoma	http://purl.obolibrary.org/obo/DOID_201	connective tissue cancer		A connective tissue cancer that arises in fat cells in deep soft tissue retroperitoneum and the extremities.
http://purl.obolibrary.org/obo/DOID_3385	bacterial vaginosis	http://purl.obolibrary.org/obo/DOID_2170	vaginitis		A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis.
http://purl.obolibrary.org/obo/DOID_3389	Papillon-Lefevre disease	http://purl.obolibrary.org/obo/DOID_1091	tooth disease		An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has_material_basis_in homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q14.
http://purl.obolibrary.org/obo/DOID_339	accessory nerve disease	http://purl.obolibrary.org/obo/DOID_3418	glossopharyngeal nerve disease		A glossopharyngeal nerve disease that is characterized by involvement of the accessory nerve (eleventh cranial nerve).
http://purl.obolibrary.org/obo/DOID_3401	inappropriate ADH syndrome	http://purl.obolibrary.org/obo/DOID_53	pituitary gland disease		A pituitary gland disease resulting from excessive production of antidiuretic hormone (ADH).
http://purl.obolibrary.org/obo/DOID_3405	histiocytosis	http://purl.obolibrary.org/obo/DOID_75	lymphatic system disease		A lymphatic system disease that is characterized by an excessive number of histiocytes.
http://purl.obolibrary.org/obo/DOID_3413	alpha-mannosidosis	http://purl.obolibrary.org/obo/DOID_3211	lysosomal storage disease		A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.
http://purl.obolibrary.org/obo/DOID_3429	inclusion body myositis	http://purl.obolibrary.org/obo/DOID_633	myositis		A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle.
http://purl.obolibrary.org/obo/DOID_3431	cerebritis	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease that is characterized by inflammation of the brain tissue occurring as a result of an underlying condition.
http://purl.obolibrary.org/obo/DOID_3436	viral laryngitis	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A acute laryngitis which is caused by viral infection.
http://purl.obolibrary.org/obo/DOID_3443	mammary Paget's disease	http://purl.obolibrary.org/obo/DOID_3458	breast adenocarcinoma		A breast adenocarcinoma that has_material_basis_in epidermal Paget cells, which are malignant glandular epithelial cells with abundant and clear cytoplasm, usually containing mucin, and pleomorphic and hyperchromatic nucleus.
http://purl.obolibrary.org/obo/DOID_3447	anus adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		An anal carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_3449	penis carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A penile cancer that is located_in the skin or tissues of the penis.
http://purl.obolibrary.org/obo/DOID_3450	cutaneous Paget's disease	http://purl.obolibrary.org/obo/DOID_3451	skin carcinoma		A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli.
http://purl.obolibrary.org/obo/DOID_3454	brain infarction	http://purl.obolibrary.org/obo/DOID_6713	cerebrovascular disease		A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain.
http://purl.obolibrary.org/obo/DOID_3456	cervix erosion	http://purl.obolibrary.org/obo/DOID_2253	cervix disease		A cervix disease that is characterized by the presence of enodcervical columnar epithelium on the ectocervix.
http://purl.obolibrary.org/obo/DOID_3457	invasive lobular carcinoma	http://purl.obolibrary.org/obo/DOID_0050938	breast lobular carcinoma		A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated.
http://purl.obolibrary.org/obo/DOID_3458	breast adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3459	breast carcinoma		A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast.
http://purl.obolibrary.org/obo/DOID_3462	hamartoma	http://purl.obolibrary.org/obo/DOID_0060072	benign neoplasm		A benign neoplasm characterized by disorganized tissue formed by a mixture of cells native to a particular anatomical location.
http://purl.obolibrary.org/obo/DOID_348	blepharochalasis	http://purl.obolibrary.org/obo/DOID_530	eyelid disease		An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins.
http://purl.obolibrary.org/obo/DOID_3481	septicemic plague	http://purl.obolibrary.org/obo/DOID_3482	plague		A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs.
http://purl.obolibrary.org/obo/DOID_3488	cellulitis	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A skin disease where there is a diffuse infection of connective tissue with severe inflammation of dermal and subcutaneous layers of the skin. Cellulitis can be caused by normal skin flora or by exogenous bacteria, and often occurs where the skin has previously been broken: cracks in the skin, cuts, blisters, burns, insect bites, surgical wounds, or sites of intravenous catheter insertion.
http://purl.obolibrary.org/obo/DOID_3492	mixed connective tissue disease	http://purl.obolibrary.org/obo/DOID_854	collagen disease		A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen.
http://purl.obolibrary.org/obo/DOID_3493	signet ring cell adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which have signet ring appearance.
http://purl.obolibrary.org/obo/DOID_3495	extrahepatic bile duct adenocarcinoma	http://purl.obolibrary.org/obo/DOID_4682	extrahepatic bile duct carcinoma		An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_3498	pancreatic ductal adenocarcinoma	http://purl.obolibrary.org/obo/DOID_4074	pancreatic adenocarcinoma		A pancreatic adenocarcinoma that derives_from pancreatic duct cells.
http://purl.obolibrary.org/obo/DOID_3500	gallbladder adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		A gallbladder carcinoma that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_3502	ampulla of Vater adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		An ampulla of Vater carcinoma that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_3503	breast signet ring cell adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3458	breast adenocarcinoma		A breast adenocarcinoma that is characterized by the presence of numerous cells containing intracellular mucin, without large amounts of extracellular mucins.
http://purl.obolibrary.org/obo/DOID_3507	dermatofibrosarcoma protuberans	http://purl.obolibrary.org/obo/DOID_3355	fibrosarcoma		A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly.
http://purl.obolibrary.org/obo/DOID_3522	lateral medullary syndrome	http://purl.obolibrary.org/obo/DOID_3523	brain stem infarction		A brain stem infarction that is characterized by hoarseness, dizziness, nausea, located_in the lateral part of the medulla oblongata that develops from a blockage in the posterior inferior cerebellar artery or one of its branches or of the vertebral artery, has_symptom vertigo, has_symptom ipsilateral cerebellar signs, has_symptom contralateral sensory deficits of limbs and torso, has_symptom ipsilateral sensory deficits of face, has_symptom laryngeal, pharyngeal, and palatal hemiparalysis, has_symptom ipsilateral Horner's syndrome.
http://purl.obolibrary.org/obo/DOID_3523	brain stem infarction	http://purl.obolibrary.org/obo/DOID_3454	brain infarction		A brain infarction that is characterized by stroke of the brain stem that develops from blockage or narrowing in the arteries located_in the brainstem, has_material_basis_in damage to the cranial nerve nuclei and long tracts, has_symptom vertigo, has_symptom imbalance, has_symptom decreased level of arousal.
http://purl.obolibrary.org/obo/DOID_3526	cerebral infarction	http://purl.obolibrary.org/obo/DOID_3454	brain infarction		A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.
http://purl.obolibrary.org/obo/DOID_3529	congenital myopathy 1A	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy that is characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported and that has_material_basis_in heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. Heterozygous mutation in the RYR1 gene also causes susceptibility to malignant hyperthermia-1 (MHS1), patients with CMYP1A are at risk for MHS. Biallelic mutations in the RYR1 gene cause autosomal recessive CMYP1B, which shows overlapping features, but is typically more severe.
http://purl.obolibrary.org/obo/DOID_3534	Lafora disease	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3.
http://purl.obolibrary.org/obo/DOID_3535	Unverricht-Lundborg syndrome	http://purl.obolibrary.org/obo/DOID_891	progressive myoclonus epilepsy		A progressive myoclonus epilepsy characterized by onset between 6 and 13 years of age of action- and stimulus-sensitive myoclonus, tonic-clonic seizures with ataxia, and a mild cognitive decline.
http://purl.obolibrary.org/obo/DOID_3540	choroid plexus cancer	http://purl.obolibrary.org/obo/DOID_3541	cerebral ventricle cancer		A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain.
http://purl.obolibrary.org/obo/DOID_355	mast-cell sarcoma	http://purl.obolibrary.org/obo/DOID_1115	sarcoma		A sarcoma that has_material_basis_in mast cells.
http://purl.obolibrary.org/obo/DOID_3557	superior mesenteric artery syndrome	http://purl.obolibrary.org/obo/DOID_3558	duodenal obstruction		A duodenal obstruction resulting from compression of the duodenum between the aorta and the superior mesenteric artery.
http://purl.obolibrary.org/obo/DOID_3559	pseudomyxoma peritonei	http://purl.obolibrary.org/obo/DOID_11239	appendix cancer		An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis.
http://purl.obolibrary.org/obo/DOID_3571	liver cancer	http://purl.obolibrary.org/obo/DOID_0080355	hepatobiliary system cancer		A hepatobiliary system cancer that is located_in the liver.
http://purl.obolibrary.org/obo/DOID_3577	Sertoli cell tumor	http://purl.obolibrary.org/obo/DOID_192	sex cord-gonadal stromal tumor		A sex cord-gonadal stromal tumor characterized by excessive proliferation of Sertoli cells.
http://purl.obolibrary.org/obo/DOID_3578	ovarian gonadoblastoma	http://purl.obolibrary.org/obo/DOID_0060112	ovarian benign neoplasm		An ovarian benign neoplasm that is has_material_basis_in a mixture of gonadal elements.
http://purl.obolibrary.org/obo/DOID_3587	pancreatic ductal carcinoma	http://purl.obolibrary.org/obo/DOID_4905	pancreatic carcinoma		A pancreatic carcinoma located_in the pancreatic duct.
http://purl.obolibrary.org/obo/DOID_3594	choriocarcinoma	http://purl.obolibrary.org/obo/DOID_2021	placenta cancer		A placenta cancer that has_material_basis_in trophoblastic cells.
http://purl.obolibrary.org/obo/DOID_3596	placental site trophoblastic tumor	http://purl.obolibrary.org/obo/DOID_3594	choriocarcinoma		A choriocarcinoma that is characterized by low beta-hCG levels and arises from neoplastic transformation of intermediate trophoblastic cells.
http://purl.obolibrary.org/obo/DOID_3602	toxic encephalopathy	http://purl.obolibrary.org/obo/DOID_863	nervous system disease		A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.
http://purl.obolibrary.org/obo/DOID_3603	mucinous cystadenocarcinoma	http://purl.obolibrary.org/obo/DOID_3111	cystadenocarcinoma		A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells.
http://purl.obolibrary.org/obo/DOID_3604	ovarian mucinous cystadenocarcinoma	http://purl.obolibrary.org/obo/DOID_3605	ovarian cystadenocarcinoma		An ovarian cystadenocarcinoma that is characterized by the presence of mucin.
http://purl.obolibrary.org/obo/DOID_3605	ovarian cystadenocarcinoma	http://purl.obolibrary.org/obo/DOID_3713	ovary adenocarcinoma		An ovary adenocarcinoma that is characterized by the presence of cysts or cystic spaces.
http://purl.obolibrary.org/obo/DOID_3606	ovarian mucinous adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3713	ovary adenocarcinoma		An ovary adenocarcinoma that is characterized by the presence of mucin.
http://purl.obolibrary.org/obo/DOID_3608	appendix adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		An appendix carcinoma that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_3609	breast mucinous cystadenocarcinoma	http://purl.obolibrary.org/obo/DOID_3610	breast mucinous carcinoma		A breast mucinous carcinoma that is characterized by both intracellular and extracellular mucin and cystic spaces are lined by tall columnar cells that contain profuse extracellular mucin.
http://purl.obolibrary.org/obo/DOID_361	cervix endometriosis	http://purl.obolibrary.org/obo/DOID_2253	cervix disease		A cervix disease that is characterized by the growth endometrial tissue that is located on the cervix.
http://purl.obolibrary.org/obo/DOID_3610	breast mucinous carcinoma	http://purl.obolibrary.org/obo/DOID_3458	breast adenocarcinoma		A breast adenocarcinoma in which at least one half of the tumor volume is extracellular mucin throughout.
http://purl.obolibrary.org/obo/DOID_3613	Canavan disease	http://purl.obolibrary.org/obo/DOID_10579	leukodystrophy		A leukodystrophy characterized by onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average that has_material_basis_in homozygous or compound heterozygous mutation in ASPA gene encoding aspartoacylase on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_3614	Kallmann syndrome	http://purl.obolibrary.org/obo/DOID_0090070	hypogonadotropic hypogonadism		A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia).
http://purl.obolibrary.org/obo/DOID_3615	infiltrating angiolipoma	http://purl.obolibrary.org/obo/DOID_3616	angiolipoma		An angiolipoma that is characterized by prominent vascularity that invades the surrounding deep tissue.
http://purl.obolibrary.org/obo/DOID_3616	angiolipoma	http://purl.obolibrary.org/obo/DOID_3315	lipoma		A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma.
http://purl.obolibrary.org/obo/DOID_3633	beta-mannosidosis	http://purl.obolibrary.org/obo/DOID_3211	lysosomal storage disease		A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism.
http://purl.obolibrary.org/obo/DOID_3635	congenital myasthenic syndrome	http://purl.obolibrary.org/obo/DOID_439	neuromuscular junction disease		A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).
http://purl.obolibrary.org/obo/DOID_3640	central nervous system teratoma	http://purl.obolibrary.org/obo/DOID_1115	sarcoma		A teratoma that is located_in the central nervous system.
http://purl.obolibrary.org/obo/DOID_3649	pyruvate decarboxylase deficiency	http://purl.obolibrary.org/obo/DOID_2978	carbohydrate metabolic disorder		A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex.
http://purl.obolibrary.org/obo/DOID_3651	pyruvate carboxylase deficiency disease	http://purl.obolibrary.org/obo/DOID_2978	carbohydrate metabolic disorder		A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis.
http://purl.obolibrary.org/obo/DOID_3652	Leigh disease	http://purl.obolibrary.org/obo/DOID_3762	cytochrome-c oxidase deficiency disease		A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity.
http://purl.obolibrary.org/obo/DOID_3659	sialuria	http://purl.obolibrary.org/obo/DOID_3211	lysosomal storage disease		A lysosomal storage disease characterized by increased sialic acid in the urine.
http://purl.obolibrary.org/obo/DOID_3660	wheat allergy	http://purl.obolibrary.org/obo/DOID_3044	food allergy		A food allergy that develops_from exposure to and particularly consumption of wheat, and has_symptom that are both gastrointestinal and nongastrointestinal in nature, such as diarrhea, mouth and throat irritation, headache, hives, skin rashes, and anaphylaxis.
http://purl.obolibrary.org/obo/DOID_3664	mast cell neoplasm	http://purl.obolibrary.org/obo/DOID_2531	hematologic cancer		A hematologic cancer that has_material_basis_in mast cells.
http://purl.obolibrary.org/obo/DOID_3666	solitary mastocytoma of the skin	http://purl.obolibrary.org/obo/DOID_3664	mast cell neoplasm		A mast cell neoplasm that is characterized by collections of mast cells with a single or multiple (usually five or fewer individual) orange-brown to red-brown plaques or nodules ranging from 0.5 to 3.5 cm in diameter.
http://purl.obolibrary.org/obo/DOID_367	olfactory nerve disease	http://purl.obolibrary.org/obo/DOID_3418	glossopharyngeal nerve disease		A brain disease that is characterized by nerve injury located_in olfactory nerve, occurring as a result of normal aging, trauma, mass lesion or other insult, and has_symptom impaired sense of smell, has_symptom anosmia or loss of smell.
http://purl.obolibrary.org/obo/DOID_3672	rhabdoid cancer	http://purl.obolibrary.org/obo/DOID_3675	childhood kidney cancer		A childhood kidney neoplasm that is located_in the kidney, liver, muscle, heart, lung, soft tissues, skin and central nervous system.
http://purl.obolibrary.org/obo/DOID_3674	kidney rhabdoid cancer	http://purl.obolibrary.org/obo/DOID_3672	rhabdoid cancer		A embryonal cancer that is located in the kidney.
http://purl.obolibrary.org/obo/DOID_3677	pulmonary plasma cell granuloma	http://purl.obolibrary.org/obo/DOID_850	lung disease		A lung disease that is characterized by an inflammatory lesion that is composed of plasma cells and fibrous tissue.
http://purl.obolibrary.org/obo/DOID_3687	MELAS syndrome	http://purl.obolibrary.org/obo/DOID_890	mitochondrial encephalomyopathy		A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins.
http://purl.obolibrary.org/obo/DOID_3689	brachial plexus neuritis	http://purl.obolibrary.org/obo/DOID_3690	brachial plexus neuropathy		A brachial plexus neuropathy that affects the chest, shoulder, arm and hand.
http://purl.obolibrary.org/obo/DOID_3691	anal colloid adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3447	anus adenocarcinoma		An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal colloid.
http://purl.obolibrary.org/obo/DOID_3692	anal canal adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		An anal canal cancer that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_3696	acute sanguinous otitis media	http://purl.obolibrary.org/obo/DOID_3697	acute transudative otitis media		A acute transudative otitis media which involves bloody effusion.
http://purl.obolibrary.org/obo/DOID_3699	uterine ligament mucinous adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3700	uterine ligament adenocarcinoma		A uterine ligament adenocarcinoma that produces mucin.
http://purl.obolibrary.org/obo/DOID_3700	uterine ligament adenocarcinoma	http://purl.obolibrary.org/obo/DOID_5727	uterine ligament cancer		A uterine ligament cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue.
http://purl.obolibrary.org/obo/DOID_3701	cervical mucinous adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3702	cervical adenocarcinoma		A cervical adenocarcinoma that derives_from mucin producing epithelial cells.
http://purl.obolibrary.org/obo/DOID_3702	cervical adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		A cervix carcinoma that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_3703	prostate colloid adenocarcinoma	http://purl.obolibrary.org/obo/DOID_2526	prostate adenocarcinoma		A prostate adenocarcinoma that produces mucin and is characterized by non-cystic structure.
http://purl.obolibrary.org/obo/DOID_3704	fallopian tube mucinous adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3706	fallopian tube adenocarcinoma		A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.
http://purl.obolibrary.org/obo/DOID_3705	fallopian tube mucinous tumor	http://purl.obolibrary.org/obo/DOID_0060111	fallopian tube benign neoplasm		A fallopian tube benign neoplasm that produces mucin.
http://purl.obolibrary.org/obo/DOID_3706	fallopian tube adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		A fallopian tube carcinoma that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_3707	endometrial mucinous adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3030	mucinous adenocarcinoma		An endometrial adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.
http://purl.obolibrary.org/obo/DOID_3709	rectum mucinous adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3030	mucinous adenocarcinoma		A rectal adenocarcinoma that produces mucin.
http://purl.obolibrary.org/obo/DOID_3711	bladder adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		A bladder carcinoma that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_3713	ovary adenocarcinoma	http://purl.obolibrary.org/obo/DOID_4001	ovarian carcinoma		An ovarian carcinoma that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_3728	acute allergic sanguinous otitis media	http://purl.obolibrary.org/obo/DOID_1205	allergic disease		A acute sanguinous otitis media caused by an allergen.
http://purl.obolibrary.org/obo/DOID_3733	theileriasis	http://purl.obolibrary.org/obo/DOID_2789	parasitic protozoa infectious disease		A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks.
http://purl.obolibrary.org/obo/DOID_3737	verrucous carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium.
http://purl.obolibrary.org/obo/DOID_374	nutrition disease	http://purl.obolibrary.org/obo/DOID_0060158	acquired metabolic disease		An acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods.
http://purl.obolibrary.org/obo/DOID_3740	vulva verrucous carcinoma	http://purl.obolibrary.org/obo/DOID_2101	vulva squamous cell carcinoma		A vulva squamous cell carcinoma that is characterized as locally invasive, with warty-appearing, highly differentiated, and variably keratinized lesions.
http://purl.obolibrary.org/obo/DOID_3742	bladder squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A carcinoma of bladder that is manifested in squamous cells of the bladder.
http://purl.obolibrary.org/obo/DOID_3743	cervical verrucous carcinoma	http://purl.obolibrary.org/obo/DOID_3744	cervical squamous cell carcinoma		A cervical squamous cell carcinoma that is characterized by a hyperkeratotic, undulating, warty surface and invades the underlying stroma in the form of bulbous epithelial pegs with a pushing border, broad papillae that lack fibrovascular cores and the absence of koilocytosis. It shows no more than minimal nuclear atypia and does not exhibit infiltrative growth.
http://purl.obolibrary.org/obo/DOID_3744	cervical squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A cervix carcinoma that has_material_basis_in squamous cells of the cervix.
http://purl.obolibrary.org/obo/DOID_3748	esophagus squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.
http://purl.obolibrary.org/obo/DOID_3749	urethral verrucous carcinoma	http://purl.obolibrary.org/obo/DOID_3750	urethra squamous cell carcinoma		A urethra squamous cell carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
http://purl.obolibrary.org/obo/DOID_3750	urethra squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A cancer of urethra that shows squamous cell differentiation.
http://purl.obolibrary.org/obo/DOID_3755	antithrombin III deficiency	http://purl.obolibrary.org/obo/DOID_2452	thrombophilia		A thrombophilia that is characterized by the tendency to form clots in the veins.
http://purl.obolibrary.org/obo/DOID_3756	protein C deficiency	http://purl.obolibrary.org/obo/DOID_2452	thrombophilia		A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.
http://purl.obolibrary.org/obo/DOID_3762	cytochrome-c oxidase deficiency disease	http://purl.obolibrary.org/obo/DOID_700	mitochondrial metabolism disease		A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation.
http://purl.obolibrary.org/obo/DOID_3764	Denys-Drash syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene).
http://purl.obolibrary.org/obo/DOID_3766	leukorrhea	http://purl.obolibrary.org/obo/DOID_3767	vaginal discharge		A vaginal discharge that is characterized by a whitish or yellow color.
http://purl.obolibrary.org/obo/DOID_3767	vaginal discharge	http://purl.obolibrary.org/obo/DOID_121	vaginal disease		A vaginal disease that is characterized by the presence of discharge.
http://purl.obolibrary.org/obo/DOID_3774	chordoid glioma	http://purl.obolibrary.org/obo/DOID_3541	cerebral ventricle cancer		A high grade glioma that is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates.
http://purl.obolibrary.org/obo/DOID_3781	anovulation	http://purl.obolibrary.org/obo/DOID_1100	ovarian disease		An ovarian disease that is characterized by the absence of ovulation.
http://purl.obolibrary.org/obo/DOID_3783	Coffin-Lowry syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22.
http://purl.obolibrary.org/obo/DOID_379	external ear disease	http://purl.obolibrary.org/obo/DOID_2742	auditory system disease		An auditory system disease that is located_in the external ear.
http://purl.obolibrary.org/obo/DOID_3803	Crigler-Najjar syndrome	http://purl.obolibrary.org/obo/DOID_2741	bilirubin metabolic disorder		A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT).
http://purl.obolibrary.org/obo/DOID_3814	soft tissue chondroma	http://purl.obolibrary.org/obo/DOID_0060123	connective tissue benign neoplasm		A connective tissue benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification.
http://purl.obolibrary.org/obo/DOID_3818	photoallergic dermatitis	http://purl.obolibrary.org/obo/DOID_3042	allergic contact dermatitis		An allergic contact dermatitis that is characterized by a delayed-type hypersensitivity cutaneous reaction in response to a photoantigen applied to the skin in individuals previously sensitized to the same substance, and has_symptom erythematous papules, vesicles, or eczema.
http://purl.obolibrary.org/obo/DOID_3819	toxicodendron dermatitis	http://purl.obolibrary.org/obo/DOID_3042	allergic contact dermatitis		An allergic contact dermatitis that has_allergic_trigger members of the toxicodendron family, including urushiol producing poison ivy, poison oak, and poison sumac, has_symptom pruritic erythematous rash with papules, vesicles, and plaques, and has_material_basis_in a type IV hypersensitivity reaction.
http://purl.obolibrary.org/obo/DOID_3827	congenital diaphragmatic hernia	http://purl.obolibrary.org/obo/DOID_10481	diaphragm disease		A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.
http://purl.obolibrary.org/obo/DOID_3829	pituitary adenoma	http://purl.obolibrary.org/obo/DOID_60009	pituitary gland benign neoplasm		A pituitary gland benign neoplasm that derives_from glandular epithelial cells.
http://purl.obolibrary.org/obo/DOID_3852	Peutz-Jeghers syndrome	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		An intestinal disease characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms that has_material_basis_in heterozygous mutation in the serine/threonine kinase STK11 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_3857	large cell medulloblastoma	http://purl.obolibrary.org/obo/DOID_0050902	medulloblastoma		A medulloblastoma that is characterized by cells that are larger than would be normally expected.
http://purl.obolibrary.org/obo/DOID_3865	adult central nervous system embryonal tumor	http://purl.obolibrary.org/obo/DOID_0060103	central nervous system embryonal tumor		A central nervous system embryonal tumor that occurs in adults.
http://purl.obolibrary.org/obo/DOID_3870	childhood central nervous system embryonal tumor	http://purl.obolibrary.org/obo/DOID_0060103	central nervous system embryonal tumor		A central nervous system embryonal tumor that occurs in childhood.
http://purl.obolibrary.org/obo/DOID_3873	desmoplastic/nodular medulloblastoma	http://purl.obolibrary.org/obo/DOID_0050902	medulloblastoma		A medulloblastoma that is characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network.
http://purl.obolibrary.org/obo/DOID_3891	placental insufficiency	http://purl.obolibrary.org/obo/DOID_780	placenta disease		A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy.
http://purl.obolibrary.org/obo/DOID_3892	insulinoma	http://purl.obolibrary.org/obo/DOID_0060084	cell type benign neoplasm		A pancreatic cystadenoma that is characterized by the overproduction of insulin.
http://purl.obolibrary.org/obo/DOID_3896	hidradenoma	http://purl.obolibrary.org/obo/DOID_2664	sweat gland benign neoplasm		A sweat gland benign neoplasm that is located_in an apical sweat gland.
http://purl.obolibrary.org/obo/DOID_3901	vulvitis	http://purl.obolibrary.org/obo/DOID_2059	vulvar disease		A vulvar disease that is characterized by inflammation of the vulva.
http://purl.obolibrary.org/obo/DOID_3907	lung squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A non-small cell lung carcinoma that has_material_basis_in the squamous cell.
http://purl.obolibrary.org/obo/DOID_3908	lung non-small cell carcinoma	http://purl.obolibrary.org/obo/DOID_3905	lung carcinoma		A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.
http://purl.obolibrary.org/obo/DOID_3910	lung adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_3911	progeria	http://purl.obolibrary.org/obo/DOID_0081332	progeroid syndrome		A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22.
http://purl.obolibrary.org/obo/DOID_3928	adiposis dolorosa	http://purl.obolibrary.org/obo/DOID_3153	lipomatosis		A lipomatosis characterized by characterized by painful folds of fatty (adipose) tissue or the growth of multiple noncancerous (benign) fatty tumors called lipomas.
http://purl.obolibrary.org/obo/DOID_3944	Arenaviridae infectious disease	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses.
http://purl.obolibrary.org/obo/DOID_3948	adrenocortical carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
http://purl.obolibrary.org/obo/DOID_3950	adrenal carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		An adrenal cancer that is located_in the cortex (steroid hormone-producing tissue) of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
http://purl.obolibrary.org/obo/DOID_3953	adrenal gland cancer	http://purl.obolibrary.org/obo/DOID_9553	adrenal gland disease		An endocrine gland cancer located_in the adrenal glands which are located above the kidneys.
http://purl.obolibrary.org/obo/DOID_3959	adrenal cortical adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		An adrenocortical carcinoma that originates in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_396	Loeffler endocarditis	http://purl.obolibrary.org/obo/DOID_397	restrictive cardiomyopathy		A restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils.
http://purl.obolibrary.org/obo/DOID_3962	follicular thyroid carcinoma	http://purl.obolibrary.org/obo/DOID_0080525	differentiated high-grade thyroid carcinoma		A differentiated thyroid gland carcinoma that has_material_basis_in follicular cells.
http://purl.obolibrary.org/obo/DOID_3965	Merkel cell carcinoma	http://purl.obolibrary.org/obo/DOID_3451	skin carcinoma		A skin carcinoma that is characterized by the presence of a trabecular glandular architectural pattern.
http://purl.obolibrary.org/obo/DOID_3969	papillary thyroid carcinoma	http://purl.obolibrary.org/obo/DOID_0080525	differentiated high-grade thyroid carcinoma		A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland.
http://purl.obolibrary.org/obo/DOID_3981	pantothenate kinase-associated neurodegeneration	http://purl.obolibrary.org/obo/DOID_0110734	neurodegeneration with brain iron accumulation		A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13.
http://purl.obolibrary.org/obo/DOID_3982	Meige syndrome	http://purl.obolibrary.org/obo/DOID_0050845	cranio-facial dystonia		A cranio-facial dystonia that is accompanied by blepharospasm.
http://purl.obolibrary.org/obo/DOID_3983	oesophagostomiasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. Rarely, Oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules.
http://purl.obolibrary.org/obo/DOID_3985	ostertagiasis	http://purl.obolibrary.org/obo/DOID_1255	trichostrongyloidiasis		A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia.
http://purl.obolibrary.org/obo/DOID_3998	Bartholin's gland transitional cell carcinoma	http://purl.obolibrary.org/obo/DOID_3999	Bartholin's gland carcinoma		A Bartholin's gland carcinoma that derives_from transitional epithelial cells.
http://purl.obolibrary.org/obo/DOID_3999	Bartholin's gland carcinoma	http://purl.obolibrary.org/obo/DOID_1294	vulva carcinoma		A vulva carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in Bartholin's gland.
http://purl.obolibrary.org/obo/DOID_4000	ovary transitional cell carcinoma	http://purl.obolibrary.org/obo/DOID_2671	transitional cell carcinoma		An ovarian epithelial cancer that derives_from epithelial transitional cells.
http://purl.obolibrary.org/obo/DOID_4005	endometrial transitional cell carcinoma	http://purl.obolibrary.org/obo/DOID_2871	endometrial carcinoma		An endometrial carcinoma that derives_from transitional epithelial cells.
http://purl.obolibrary.org/obo/DOID_4006	bladder urothelial carcinoma	http://purl.obolibrary.org/obo/DOID_4007	bladder carcinoma		A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder.
http://purl.obolibrary.org/obo/DOID_4007	bladder carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A urinary bladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
http://purl.obolibrary.org/obo/DOID_4008	fallopian tube transitional cell carcinoma	http://purl.obolibrary.org/obo/DOID_2671	transitional cell carcinoma		A fallopian tube carcinoma that derives_from epithelial transitional cells.
http://purl.obolibrary.org/obo/DOID_401	multidrug-resistant tuberculosis	http://purl.obolibrary.org/obo/DOID_399	tuberculosis		A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs.
http://purl.obolibrary.org/obo/DOID_4011	prostate transitional cell carcinoma	http://purl.obolibrary.org/obo/DOID_10286	prostate carcinoma		A prostate carcinoma that derives_from transitional epithelial cells.
http://purl.obolibrary.org/obo/DOID_4012	papillary transitional carcinoma	http://purl.obolibrary.org/obo/DOID_2671	transitional cell carcinoma		A transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium.
http://purl.obolibrary.org/obo/DOID_4013	urethra transitional cell carcinoma	http://purl.obolibrary.org/obo/DOID_734	urethra cancer		An urethra cancer that is characterized by cancer cells forming in the renal pelvis and ureter.
http://purl.obolibrary.org/obo/DOID_4014	sarcomatoid transitional cell carcinoma	http://purl.obolibrary.org/obo/DOID_2671	transitional cell carcinoma		A transitional cell carcinoma that has sarcoma-like components arising from the malignant transitional epithelium.
http://purl.obolibrary.org/obo/DOID_4015	sarcomatoid carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A carcinoma that is characterized by the presence of spindle cells and anaplastic morphologic features.
http://purl.obolibrary.org/obo/DOID_402	oral tuberculosis	http://purl.obolibrary.org/obo/DOID_404	gastrointestinal tuberculosis		A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located in tongue, located in palate, located in maxilla or located in mandible.
http://purl.obolibrary.org/obo/DOID_4022	ureterocele	http://purl.obolibrary.org/obo/DOID_1426	ureteral disease		A ureteral disease that is characterized_as a congenital anomaly in which the distal end of the ureter swells as it enters the bladder.
http://purl.obolibrary.org/obo/DOID_4024	scirrhous adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma.
http://purl.obolibrary.org/obo/DOID_4028	angioma serpiginosum	http://purl.obolibrary.org/obo/DOID_471	skin hemangioma		A skin hemangioma that is characterized by the presence of small red dots that cluster together to form a linear or snake-like array or ring-shaped pattern located_in the blood vessels of the skin.
http://purl.obolibrary.org/obo/DOID_4029	gastritis	http://purl.obolibrary.org/obo/DOID_76	stomach disease		A stomach disease that is an inflammation of the lining of the stomach.
http://purl.obolibrary.org/obo/DOID_4033	bacterial gastritis	http://purl.obolibrary.org/obo/DOID_104	bacterial infectious disease		A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting.
http://purl.obolibrary.org/obo/DOID_4034	fungal gastritis	http://purl.obolibrary.org/obo/DOID_1564	fungal infectious disease		A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by fungal infection in immunocompromised patients.
http://purl.obolibrary.org/obo/DOID_4047	liver rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_270	liver sarcoma		A rhabdomyosarcoma and sarcoma of liver that are located_in the liver.
http://purl.obolibrary.org/obo/DOID_4049	mediastinum rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_3247	rhabdomyosarcoma		A rhabdomyosarcoma that is located_in the mediastinum and affects children and adolescents.
http://purl.obolibrary.org/obo/DOID_4050	mediastinum sarcoma	http://purl.obolibrary.org/obo/DOID_1115	sarcoma		A sarcoma and malignant mediastinal mesenchymnal tumor that is located_in the mediastinum.
http://purl.obolibrary.org/obo/DOID_4053	rectum rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_1995	rectum sarcoma		A rectum sarcoma that is located_in the rectum in which the cancer cells are thought to arise from skeletal muscle progenitors.
http://purl.obolibrary.org/obo/DOID_4054	prostate sarcoma	http://purl.obolibrary.org/obo/DOID_1115	sarcoma		A prostate cancer that is located_in the prostate.
http://purl.obolibrary.org/obo/DOID_4057	gallbladder rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_3121	gallbladder cancer		A gallbladder sarcoma that is located_in the gallbladder that has_material_basis_in cells that normally develop into skeletal (voluntary) muscles.
http://purl.obolibrary.org/obo/DOID_4058	gallbladder sarcoma	http://purl.obolibrary.org/obo/DOID_3121	gallbladder cancer		A sarcoma that is located_in the gallbladder.
http://purl.obolibrary.org/obo/DOID_4059	ovary rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_3247	rhabdomyosarcoma		An ovary sarcoma that arises from skeletal muscle progenitors.
http://purl.obolibrary.org/obo/DOID_4060	breast rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_3017	breast sarcoma		A breast sarcoma that arises from skeletal muscle cells.
http://purl.obolibrary.org/obo/DOID_4061	testis rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_4062	testis sarcoma		A testis sarcoma that arises from mesenchymal cells and is located_in the testis.
http://purl.obolibrary.org/obo/DOID_4062	testis sarcoma	http://purl.obolibrary.org/obo/DOID_2998	testicular cancer		A sarcoma and malignant neoplasm of testis that is located_in the testis.
http://purl.obolibrary.org/obo/DOID_4064	bile duct sarcoma	http://purl.obolibrary.org/obo/DOID_4606	bile duct cancer		A sarcoma and malignant tumor of extrahepatic bile duct that is located_in the bile duct.
http://purl.obolibrary.org/obo/DOID_4066	anus rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_14110	anus cancer		A rhabdomyosarcoma and sarcoma of the anus that is located_in the anus.
http://purl.obolibrary.org/obo/DOID_4067	anus sarcoma	http://purl.obolibrary.org/obo/DOID_14110	anus cancer		A sarcoma and malignant neoplasm of anus that is located_in the anus.
http://purl.obolibrary.org/obo/DOID_407	hepatic tuberculosis	http://purl.obolibrary.org/obo/DOID_409	liver disease		A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice.
http://purl.obolibrary.org/obo/DOID_4072	duodenum disease	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		An intestinal disease that is located_in the duodenum.
http://purl.obolibrary.org/obo/DOID_4074	pancreatic adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		A pancreatic carcinoma that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_4078	tricuspid valve stenosis	http://purl.obolibrary.org/obo/DOID_0050826	tricuspid valve disease		A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve.
http://purl.obolibrary.org/obo/DOID_4080	tricuspid valve insufficiency	http://purl.obolibrary.org/obo/DOID_0050826	tricuspid valve disease		A tricuspid valve disease that is characterized by failure of the heart's tricuspid valve to close properly during systole. As a result, with each heart beat, blood is pumped out from the right side of the heart in the opposite direction to normal.
http://purl.obolibrary.org/obo/DOID_4085	trophoblastic neoplasm	http://purl.obolibrary.org/obo/DOID_3095	germ cell and embryonal cancer		A germ cell and embryonal cancer that derives_from trophoblastic tissue.
http://purl.obolibrary.org/obo/DOID_4111	cervical adenosarcoma	http://purl.obolibrary.org/obo/DOID_4112	cervical carcinosarcoma		A cervical carcinosarcoma that is located_in the cervix.
http://purl.obolibrary.org/obo/DOID_4112	cervical carcinosarcoma	http://purl.obolibrary.org/obo/DOID_4362	cervical cancer		A cervical cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.
http://purl.obolibrary.org/obo/DOID_4113	uterine corpus adenosarcoma	http://purl.obolibrary.org/obo/DOID_4114	uterine body mixed cancer		An adenosarcoma and malignant uterine body mixed neoplasm that derives_from the glands that line the uterus.
http://purl.obolibrary.org/obo/DOID_4114	uterine body mixed cancer	http://purl.obolibrary.org/obo/DOID_9460	uterine corpus cancer		A uterine corpus cancer that has_material_basis_in more than one type of cell.
http://purl.obolibrary.org/obo/DOID_4115	ovarian mesodermal adenosarcoma	http://purl.obolibrary.org/obo/DOID_6170	ovarian carcinosarcoma		An ovarian carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium.
http://purl.obolibrary.org/obo/DOID_4117	vaginal adenosarcoma	http://purl.obolibrary.org/obo/DOID_136	vaginal carcinosarcoma		A vaginal carcinosarcoma derives_from the glands that line the uterus.
http://purl.obolibrary.org/obo/DOID_4131	erythrasma	http://purl.obolibrary.org/obo/DOID_4223	pyoderma		A pyoderma that is characterized by brown, scaly skin patches that are generalized or iterdigital (between the toes or fingers) and is caused by infection with corynebacterium minutissimum.
http://purl.obolibrary.org/obo/DOID_4140	biliary dyskinesia	http://purl.obolibrary.org/obo/DOID_0060262	gallbladder disease		A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree.
http://purl.obolibrary.org/obo/DOID_4141	intraorbital meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		A meningioma by site and orbital neoplasm that is located_in the area around the eye sockets of the skull and results_in pressure in the eyes, giving a bulging appearance.
http://purl.obolibrary.org/obo/DOID_4143	orbital cancer	http://purl.obolibrary.org/obo/DOID_930	orbital disease		A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis.
http://purl.obolibrary.org/obo/DOID_4151	skull base chordoma	http://purl.obolibrary.org/obo/DOID_3302	chordoma		A chordoma that is located_in the skull base.
http://purl.obolibrary.org/obo/DOID_4152	chondroid chordoma	http://purl.obolibrary.org/obo/DOID_3302	chordoma		A chordoma that histologically derives_from chordoma, derives_from chondroma, and derives_from chondrosarcoma.
http://purl.obolibrary.org/obo/DOID_4154	dentinogenesis imperfecta	http://purl.obolibrary.org/obo/DOID_1091	tooth disease		A tooth disease characterized by discolored, opalescent teeth that has_material_basis_in mutation in the DSPP gene on chromosome 4q22.
http://purl.obolibrary.org/obo/DOID_4156	primary syphilis	http://purl.obolibrary.org/obo/DOID_4166	syphilis		A syphilis that is the first stage of syphilis, marked by the development of a chancre, which is characterized by mononuclear leukocytic infiltration, macrophages, and lymphocytes.
http://purl.obolibrary.org/obo/DOID_4157	secondary syphilis	http://purl.obolibrary.org/obo/DOID_4166	syphilis		A syphilis that is characterized as the second stage of syphilis which appears from 2 to 6 months after primary infection, and is marked by lesions especially in the skin but also in organs and tissues, and that lasts from 3 to 12 weeks.
http://purl.obolibrary.org/obo/DOID_4164	cerebral neuroblastoma	http://purl.obolibrary.org/obo/DOID_368	cerebrum cancer		A brain cancer that is characterized by small, round and blue cells with rosette patterns on histology, that has_material_basis_in abnormally proliferating cells and derives_from precursor cells called blast cells.
http://purl.obolibrary.org/obo/DOID_4166	syphilis	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years.
http://purl.obolibrary.org/obo/DOID_4183	pseudopseudohypoparathyroidism	http://purl.obolibrary.org/obo/DOID_4184	pseudohypoparathyroidism		A pseudohypoparathyroidism characterized by a lack of resistance to parathyroid hormone or other hormones along with the constellation of clinical features referred to as Albright hereditary osteodystrophy and that has_material_basis_in a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene on the paternal allele. This results in expression of the Gs-alpha protein only from the maternal allele.
http://purl.obolibrary.org/obo/DOID_4188	echolalia	http://purl.obolibrary.org/obo/DOID_92	speech disorder		A speech disorder that involves the automatic repetition of vocalizations made by another person.
http://purl.obolibrary.org/obo/DOID_4189	mutism	http://purl.obolibrary.org/obo/DOID_92	speech disorder		A speech disorder that involves a complete inability to speak.
http://purl.obolibrary.org/obo/DOID_419	scleroderma	http://purl.obolibrary.org/obo/DOID_1575	rheumatic disease		A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs.
http://purl.obolibrary.org/obo/DOID_4196	femoral neuropathy	http://purl.obolibrary.org/obo/DOID_1188	mononeuropathy		A mononeuropathy that is characterized by a loss of movement or sensation in parts of the legs due to damage to the femoral nerve.
http://purl.obolibrary.org/obo/DOID_4202	brain stem glioma	http://purl.obolibrary.org/obo/DOID_4203	brain stem cancer		A brain stem cancer that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells, derives_from glial cells.
http://purl.obolibrary.org/obo/DOID_4206	childhood brain stem neoplasm	http://purl.obolibrary.org/obo/DOID_4203	brain stem cancer		A brain stem cancer characterized by mass lesion of the brainstem in childhood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells.
http://purl.obolibrary.org/obo/DOID_4207	childhood infratentorial neoplasm	http://purl.obolibrary.org/obo/DOID_4203	brain stem cancer		A brain stem cancer in the infratentorial region of the brain in childhood, characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells.
http://purl.obolibrary.org/obo/DOID_421	hair disease	http://purl.obolibrary.org/obo/DOID_16	integumentary system disease		An integumentary system disease that is located_in hair.
http://purl.obolibrary.org/obo/DOID_4211	posterior fossa meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		A meningioma that affects the posterior cranial fossa.
http://purl.obolibrary.org/obo/DOID_4217	malignant ovarian Brenner tumor	http://purl.obolibrary.org/obo/DOID_2151	malignant ovarian surface epithelial-stromal neoplasm		A malignant ovarian surface epithelial-stromal neoplasm that has_material_basis_in the surface epithelium of the ovary.
http://purl.obolibrary.org/obo/DOID_422	congenital structural myopathy	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills.
http://purl.obolibrary.org/obo/DOID_4226	endometrial stromal sarcoma	http://purl.obolibrary.org/obo/DOID_5166	endometrial stromal tumor		An endometrial stromal tumor that has_material_basis_in connective tissue.
http://purl.obolibrary.org/obo/DOID_4227	uterine corpus endometrial stromal sarcoma	http://purl.obolibrary.org/obo/DOID_5165	uterine corpus sarcoma		A uterine corpus sarcoma that has_material_basis_in the connective tissue of the uterine lining.
http://purl.obolibrary.org/obo/DOID_4232	extraosseous Ewing sarcoma	http://purl.obolibrary.org/obo/DOID_3369	Ewing sarcoma		A Ewing sarcoma that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations.
http://purl.obolibrary.org/obo/DOID_4233	clear cell sarcoma	http://purl.obolibrary.org/obo/DOID_1115	sarcoma		A sarcoma that is characterized by solid nests and fascicles of tumor cells with clear cytoplasm and prominent nucleoli. It presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply situated.
http://purl.obolibrary.org/obo/DOID_4235	spindle cell sarcoma	http://purl.obolibrary.org/obo/DOID_1115	sarcoma		A sarcoma that results_in cells that are spindle-shaped. They are usually resistant to radiation therapy.
http://purl.obolibrary.org/obo/DOID_4236	carcinosarcoma	http://purl.obolibrary.org/obo/DOID_154	mixed cell type cancer		A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.
http://purl.obolibrary.org/obo/DOID_4239	alveolar soft part sarcoma	http://purl.obolibrary.org/obo/DOID_4043	skeletal muscle cancer		A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults.
http://purl.obolibrary.org/obo/DOID_424	pulmonary immaturity	http://purl.obolibrary.org/obo/DOID_850	lung disease		A lung disease that is characterized by pulmonary collapse, accompanied by hypoventilation which can affect a lobe, segment, or all of the lung, resulting in a decrease in the ventilation/perfusion ratio.
http://purl.obolibrary.org/obo/DOID_4242	kidney sarcoma	http://purl.obolibrary.org/obo/DOID_263	kidney cancer		A kidney cancer that is located in the kidney's connective tissue.
http://purl.obolibrary.org/obo/DOID_4249	Gerstmann-Straussler-Scheinker syndrome	http://purl.obolibrary.org/obo/DOID_649	prion disease		A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain.
http://purl.obolibrary.org/obo/DOID_4252	Alexander disease	http://purl.obolibrary.org/obo/DOID_10579	leukodystrophy		A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes.
http://purl.obolibrary.org/obo/DOID_4253	melorheostosis	http://purl.obolibrary.org/obo/DOID_4254	osteosclerosis		An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex.
http://purl.obolibrary.org/obo/DOID_4257	Caffey disease	http://purl.obolibrary.org/obo/DOID_3342	bone inflammation disease		A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability.
http://purl.obolibrary.org/obo/DOID_4258	Weissenbacher-Zweymuller syndrome	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities.
http://purl.obolibrary.org/obo/DOID_4265	angiomyoma	http://purl.obolibrary.org/obo/DOID_178	vascular disease		A leiomyoma that is located_in the blood vessels.
http://purl.obolibrary.org/obo/DOID_4267	akinetic mutism	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness.
http://purl.obolibrary.org/obo/DOID_4270	encephalitozoonosis	http://purl.obolibrary.org/obo/DOID_4271	microsporidiosis		A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem.
http://purl.obolibrary.org/obo/DOID_4271	microsporidiosis	http://purl.obolibrary.org/obo/DOID_2473	opportunistic mycosis		An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members.
http://purl.obolibrary.org/obo/DOID_4277	penis basal cell carcinoma	http://purl.obolibrary.org/obo/DOID_3449	penis carcinoma		A basal cell carcinoma that is located_in the penis.
http://purl.obolibrary.org/obo/DOID_4279	infundibulocystic basal cell carcinoma	http://purl.obolibrary.org/obo/DOID_2513	basal cell carcinoma		A variant of basal cell carcinoma characterized by follicular differentiation.
http://purl.obolibrary.org/obo/DOID_4280	nodular basal cell carcinoma	http://purl.obolibrary.org/obo/DOID_2513	basal cell carcinoma		A basal cell carcinoma characterized by elevated, pearl shaped nodules with telengactisae on the surface and periphery.
http://purl.obolibrary.org/obo/DOID_4281	metatypical basal cell carcinoma	http://purl.obolibrary.org/obo/DOID_2513	basal cell carcinoma		A basal cell carcinoma characterized by intermediate typology between basal cell carcinoma and squamous cell carcinoma.
http://purl.obolibrary.org/obo/DOID_4282	pigmented basal cell carcinoma	http://purl.obolibrary.org/obo/DOID_2513	basal cell carcinoma		A basal cell carcinoma characterized by brown or black pigmentation.
http://purl.obolibrary.org/obo/DOID_4283	anal margin basal cell carcinoma	http://purl.obolibrary.org/obo/DOID_2513	basal cell carcinoma		A basal cell carcinoma that is located_in the anal margin.
http://purl.obolibrary.org/obo/DOID_4286	skin nasal cell carcinoma with sebaceous differentiation	http://purl.obolibrary.org/obo/DOID_4840	sebaceous carcinoma		A basal cell carcinoma that is characterized by sebaceous differentiation and located in the skin.
http://purl.obolibrary.org/obo/DOID_4288	external ear carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
http://purl.obolibrary.org/obo/DOID_4289	micronodular basal cell carcinoma	http://purl.obolibrary.org/obo/DOID_2513	basal cell carcinoma		A basal cell carcinoma characterized by solid tumor nodules.
http://purl.obolibrary.org/obo/DOID_429	gynatresia	http://purl.obolibrary.org/obo/DOID_229	female reproductive system disease		A female reproductive system disease that is characterized by the occlusion of some part of the female genital tract, especially occlusion of the vagina.
http://purl.obolibrary.org/obo/DOID_4294	adenoid basal cell carcinoma	http://purl.obolibrary.org/obo/DOID_8858	tonsil cancer		A basal cell carcinoma that is characterized by the presence of thin strands of basaloid cells forming a reticulate pattern.
http://purl.obolibrary.org/obo/DOID_4295	follicular basal cell carcinoma	http://purl.obolibrary.org/obo/DOID_2513	basal cell carcinoma		A basal cell carcinoma that is characterized by follicular differentiation.
http://purl.obolibrary.org/obo/DOID_4297	scimitar syndrome	http://purl.obolibrary.org/obo/DOID_1682	congenital heart disease		A congenital heart disease that is characterized by partial or entire anomalous curved venous drainage of the right lung to the inferior vena cava, association with variable right lung and pulmonary artery hypoplasia, dextraposition of the heart and an anomalous systemic blood supply to the ipsilateral lung.
http://purl.obolibrary.org/obo/DOID_4299	infiltrative basal cell carcinoma	http://purl.obolibrary.org/obo/DOID_2513	basal cell carcinoma		A basal cell carcinoma that is characterized by the formation of thin, small clusters in an infiltrative growth pattern.
http://purl.obolibrary.org/obo/DOID_4301	vulva basal cell carcinoma	http://purl.obolibrary.org/obo/DOID_1294	vulva carcinoma		A vulva carcinoma that has_material_basis_in basal cells.
http://purl.obolibrary.org/obo/DOID_4302	cystic basal cell carcinoma	http://purl.obolibrary.org/obo/DOID_4280	nodular basal cell carcinoma		A nodular basal cell carcinoma that is characterized by a homogenous blue/black area.
http://purl.obolibrary.org/obo/DOID_4305	bone giant cell tumor	http://purl.obolibrary.org/obo/DOID_200	benign giant cell tumor		A benign giant cell tumor that results_in the presence of multinucleated giant cells.
http://purl.obolibrary.org/obo/DOID_4306	radiculopathy	http://purl.obolibrary.org/obo/DOID_574	peripheral nervous system disease		A peripheral nervous system disease that is characterized by the pinching of a nerve root in the spine and has symptoms of pain, weakness, numbness and tingling.
http://purl.obolibrary.org/obo/DOID_4307	polyradiculopathy	http://purl.obolibrary.org/obo/DOID_4306	radiculopathy		A radiculopathy that is present in more than one nerve.
http://purl.obolibrary.org/obo/DOID_4308	polyradiculoneuropathy	http://purl.obolibrary.org/obo/DOID_574	peripheral nervous system disease		A peripheral nervous system disease that is characterized by the co-occurance of polyneuropahty and polyradicuopathy and is located in both the spinal nerve roots and the peripheral nerves.
http://purl.obolibrary.org/obo/DOID_4313	epidermolysis bullosa acquisita	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		An acquired epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, and has_material_basis_in the development of autoantibodies to type VII collagen.
http://purl.obolibrary.org/obo/DOID_4320	non-gestational choriocarcinoma	http://purl.obolibrary.org/obo/DOID_3594	choriocarcinoma		A choriocarcicoma that develops in the absence of a preceding gestational event.
http://purl.obolibrary.org/obo/DOID_4325	Ebola virus disease	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Bundibugyo virus (Orthoebolavirus bundibugyoense), Sudan ebolavirus (Orthoebolavirus sudanense), Tai Forest ebolavirus (Orthoebolavirus taiense), or Zaire ebolavirus (Orthoebolavirus zairense), which are transmitted_by contact with the body fluids of an infected animal or person, transmitted by contaminated fomites, or transmitted by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding.
http://purl.obolibrary.org/obo/DOID_4327	Marburg hemorrhagic fever	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Marburg virus (Orthomarburgvirus marburgense), which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding.
http://purl.obolibrary.org/obo/DOID_4329	Erdheim-Chester disease	http://purl.obolibrary.org/obo/DOID_4330	non-Langerhans-cell histiocytosis		A non-Langerhans-cell histiocytosis that is characterized by the proliferation in the tissues of lipid-laden macrophages and the presence of multinucleated giant cells. It results in sclerosis of the long bones and failure of the affected organs.
http://purl.obolibrary.org/obo/DOID_4331	burning mouth syndrome	http://purl.obolibrary.org/obo/DOID_403	mouth disease		A mouth disease that is characterized by long-lasting burning sensations of the mouth.
http://purl.obolibrary.org/obo/DOID_4333	parovarian cyst	http://purl.obolibrary.org/obo/DOID_229	female reproductive system disease		A female reproductive system disease that is characterized by epithelium-lined fluid-filled cysts in the adnexa adjacent to the fallopian tube and ovary.
http://purl.obolibrary.org/obo/DOID_4336	tinea favosa	http://purl.obolibrary.org/obo/DOID_4337	tinea capitis		A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring.
http://purl.obolibrary.org/obo/DOID_4353	ciliary body disease	http://purl.obolibrary.org/obo/DOID_240	iris disease		An iris disease that is located_in the ciliary body.
http://purl.obolibrary.org/obo/DOID_4362	cervical cancer	http://purl.obolibrary.org/obo/DOID_363	uterine cancer		A female reproductive organ cancer that is located_in the cervix.
http://purl.obolibrary.org/obo/DOID_4364	malignant breast melanoma	http://purl.obolibrary.org/obo/DOID_1612	breast cancer		A breast cancer that arises_from melanocytes.
http://purl.obolibrary.org/obo/DOID_4367	apparent mineralocorticoid excess syndrome	http://purl.obolibrary.org/obo/DOID_1701	steroid inherited metabolic disorder		A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16.
http://purl.obolibrary.org/obo/DOID_4371	Schnitzler syndrome	http://purl.obolibrary.org/obo/DOID_2916	hypersensitivity reaction type IV disease		A hypersensitivity reaction type IV disease that is characterized by chronic urticarial rash and monoclonal IgM gammopathy, has_symptom rash, intermittent fever, arthralgia, and lymphadenopathy.
http://purl.obolibrary.org/obo/DOID_4374	Silo filler's disease	http://purl.obolibrary.org/obo/DOID_850	lung disease		A lung disease that is characterized by inhalation of nitrogen oxides from exposure to silage gas in recently filled silos resulting in sudden death, pulmonary edema, and/or bronchiolitis obliterans.
http://purl.obolibrary.org/obo/DOID_4378	peanut allergy	http://purl.obolibrary.org/obo/DOID_0060904	legume allergy		A legume allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms.
http://purl.obolibrary.org/obo/DOID_4379	nut allergy	http://purl.obolibrary.org/obo/DOID_3044	food allergy		A food allergy that develops_from exposure to and particularly consumption of nuts, and has_symptom asthma, skin rashes, throat and eye irritation, and anaphylaxis.
http://purl.obolibrary.org/obo/DOID_4384	orbit alveolar rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_3259	orbit rhabdomyosarcoma		An orbit rhabdomyosarcoma that is characterized by ill-defined aggregates of poorly differentiated malignant cells that are loosely arranged and separated into irregular ovoid spaces by thin fibrovascular septa in an alveolar pattern which is absent in the solid form.
http://purl.obolibrary.org/obo/DOID_4385	papillary squamous carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A squamous cell carcinoma that has papillae, which are characterized either by narrow fibrovascular cores that superficially resemble papillary carcinoma of the urinary tract or by broad cores that contain edematous fibrous stroma with prominent capillaries and stromal inflammation.
http://purl.obolibrary.org/obo/DOID_4407	phototoxic dermatitis	http://purl.obolibrary.org/obo/DOID_2772	irritant dermatitis		An irritant dermatitis that is caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight.
http://purl.obolibrary.org/obo/DOID_4411	hepatitis E	http://purl.obolibrary.org/obo/DOID_1884	viral hepatitis		A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus (Paslahepevirus balayani), which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice.
http://purl.obolibrary.org/obo/DOID_4413	cervix melanoma	http://purl.obolibrary.org/obo/DOID_4362	cervical cancer		A cervical cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes.
http://purl.obolibrary.org/obo/DOID_4423	sea-blue histiocytosis	http://purl.obolibrary.org/obo/DOID_1927	sphingolipidosis		A sphingolipidosis characterized by dysfunctional metabolism of sphingolipids.
http://purl.obolibrary.org/obo/DOID_4424	juvenile xanthogranuloma	http://purl.obolibrary.org/obo/DOID_4330	non-Langerhans-cell histiocytosis		A non-Langerhans-cell histiocytosis is characterized as a benign skin lump or bump caused by a collection of cells called histiocytes. These may be red, orange or tan at first, but over time may become more yellow in color. These bumps usually appear on the head, neck and trunk.
http://purl.obolibrary.org/obo/DOID_4428	dyslexia	http://purl.obolibrary.org/obo/DOID_13365	reading disorder		A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability.
http://purl.obolibrary.org/obo/DOID_4439	central nervous system germ cell tumor	http://purl.obolibrary.org/obo/DOID_3620	central nervous system cancer		A central nervous system cancer that is characterized by tumors near the pineal gland, the pituitary gland and the tissue just above it, develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells.
http://purl.obolibrary.org/obo/DOID_4440	seminoma	http://purl.obolibrary.org/obo/DOID_2994	germ cell cancer		A germinoma that has_material_basis_in cells that make sperm and eggs.
http://purl.obolibrary.org/obo/DOID_4441	dysgerminoma	http://purl.obolibrary.org/obo/DOID_2394	ovarian cancer		A germ cell cancer that derives_from cells that give rise to egg cells.
http://purl.obolibrary.org/obo/DOID_4442	cervical alveolar soft part sarcoma	http://purl.obolibrary.org/obo/DOID_4362	cervical cancer		An alveolar soft part sarcoma and cervical soft tissue tumor and malignant neoplasm of cervix uteri that is located_in the cervix.
http://purl.obolibrary.org/obo/DOID_4450	renal cell carcinoma	http://purl.obolibrary.org/obo/DOID_4451	renal carcinoma		A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.
http://purl.obolibrary.org/obo/DOID_4451	renal carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A kidney cancer that derives_from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products).
http://purl.obolibrary.org/obo/DOID_4464	collecting duct carcinoma	http://purl.obolibrary.org/obo/DOID_4450	renal cell carcinoma		A renal cell carcinoma that begins in distal collecting ducts of the kidney with a tubulopapillary morphology and intracytoplasmic mucicarminophilic material.
http://purl.obolibrary.org/obo/DOID_4465	papillary renal cell carcinoma	http://purl.obolibrary.org/obo/DOID_4450	renal cell carcinoma		A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors.
http://purl.obolibrary.org/obo/DOID_4467	clear cell renal cell carcinoma	http://purl.obolibrary.org/obo/DOID_4450	renal cell carcinoma		A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.
http://purl.obolibrary.org/obo/DOID_4468	clear cell adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		An adenocarcinoma that derives_from epithelial cells which have clear cytoplasm.
http://purl.obolibrary.org/obo/DOID_4471	chromophobe renal cell carcinoma	http://purl.obolibrary.org/obo/DOID_4450	renal cell carcinoma		A renal cell carcinoma that has_material_basis_in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells.
http://purl.obolibrary.org/obo/DOID_4480	achondroplasia	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone.
http://purl.obolibrary.org/obo/DOID_4481	allergic rhinitis	http://purl.obolibrary.org/obo/DOID_0060496	respiratory allergy		A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.
http://purl.obolibrary.org/obo/DOID_4483	rhinitis	http://purl.obolibrary.org/obo/DOID_2163	nasal cavity disease		A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.
http://purl.obolibrary.org/obo/DOID_4490	malignant peritoneal solitary fibrous tumor	http://purl.obolibrary.org/obo/DOID_1725	peritoneum cancer		A peritoneum cancer that is characterized by the presence of prominent hemangiopericytoma-like vessels and that arises from the peritoneum.
http://purl.obolibrary.org/obo/DOID_4491	persian gulf syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome affecting returning military veterans and civilian workers of the Gulf War.
http://purl.obolibrary.org/obo/DOID_4492	avian influenza	http://purl.obolibrary.org/obo/DOID_8469	influenza		An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus (Alphainfluenzavirus influenzae), which is transmitted by contact with infected poultry. At least five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress.
http://purl.obolibrary.org/obo/DOID_4504	central nervous system angiosarcoma	http://purl.obolibrary.org/obo/DOID_2133	central nervous system sarcoma		A central nervous system sarcoma that is located_in the inner lining of blood vessels.
http://purl.obolibrary.org/obo/DOID_4505	childhood angiosarcoma	http://purl.obolibrary.org/obo/DOID_0001816	angiosarcoma		An angiosarcoma that affects children.
http://purl.obolibrary.org/obo/DOID_4510	aorta angiosarcoma	http://purl.obolibrary.org/obo/DOID_520	aortic disease		An angiosarcoma that is located_in the aorta.
http://purl.obolibrary.org/obo/DOID_4511	breast angiosarcoma	http://purl.obolibrary.org/obo/DOID_3017	breast sarcoma		An angiosarcoma and sarcoma of breast and vascular neoplasm of breast that is located_in the cells that line the blood vessels within the breast or underarm area.
http://purl.obolibrary.org/obo/DOID_4513	gallbladder angiosarcoma	http://purl.obolibrary.org/obo/DOID_3121	gallbladder cancer		An angiosarcoma and gallbladder sarcoma that is located_in the gallbladder.
http://purl.obolibrary.org/obo/DOID_4514	thyroid angiosarcoma	http://purl.obolibrary.org/obo/DOID_4515	thyroid sarcoma		A thyroid sarcoma and angiosarcoma that results_in a high prevalence of iodine-deficient goiter.
http://purl.obolibrary.org/obo/DOID_4515	thyroid sarcoma	http://purl.obolibrary.org/obo/DOID_1781	thyroid cancer		A thyroid gland cancer that is located_in the supporting cells of the thyroid.
http://purl.obolibrary.org/obo/DOID_4517	skin angiosarcoma	http://purl.obolibrary.org/obo/DOID_2687	skin sarcoma		An angiosarcoma and hemangioma of skin and malignant skin vascular tumor and sarcoma of skin that is located_in the skin and results_in an enlarged bruise (a blue-black nodule) and an unhealed ulceration.
http://purl.obolibrary.org/obo/DOID_452	pleomorphic adenoma	http://purl.obolibrary.org/obo/DOID_0050624	gastrointestinal system benign neoplasm		A gastrointestinal system benign neoplasm that is a located_in the salivary glands.
http://purl.obolibrary.org/obo/DOID_4520	cervical endometrial stromal sarcoma	http://purl.obolibrary.org/obo/DOID_4521	cervix endometrial stromal tumor		A cervix endometrical stromal tumor that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm.
http://purl.obolibrary.org/obo/DOID_4521	cervix endometrial stromal tumor	http://purl.obolibrary.org/obo/DOID_4362	cervical cancer		A cervical cancer that derives_from the fibrous connective tissue of the endometrium.
http://purl.obolibrary.org/obo/DOID_4524	prostate angiosarcoma	http://purl.obolibrary.org/obo/DOID_4054	prostate sarcoma		An angiosarcoma and sarcoma of prostate that is located_in the prostate.
http://purl.obolibrary.org/obo/DOID_4525	mediastinum angiosarcoma	http://purl.obolibrary.org/obo/DOID_0001816	angiosarcoma		An angiosarcoma and sarcoma of the mediastinum that is located_in the mediastinum.
http://purl.obolibrary.org/obo/DOID_4527	ovarian angiosarcoma	http://purl.obolibrary.org/obo/DOID_2394	ovarian cancer		An ovary sarcoma that is a malignant vascular tumor that derives_from blood vessels.
http://purl.obolibrary.org/obo/DOID_4534	Hallermann-Streiff syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that affects growth, cranial development, hair growth and dental development.
http://purl.obolibrary.org/obo/DOID_4540	dysgraphia	http://purl.obolibrary.org/obo/DOID_0060047	writing disorder		A writing disorder that involves a deficiency in the ability to write where the writing is distorted or incorrect, spelling difficulty, poor handwriting or trouble putting thoughts on paper.
http://purl.obolibrary.org/obo/DOID_4541	nominal aphasia	http://purl.obolibrary.org/obo/DOID_0060046	aphasia		An agnosia that involves a severe problem with recalling words or names.
http://purl.obolibrary.org/obo/DOID_4543	retrograde amnesia	http://purl.obolibrary.org/obo/DOID_10914	amnestic disorder		An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection.
http://purl.obolibrary.org/obo/DOID_4547	adult mesenchymal chondrosarcoma	http://purl.obolibrary.org/obo/DOID_4545	mesenchymal chondrosarcoma		An adult sarcoma of soft tissue and mesenchymal chondrosarcoma that is located_in the cartilage.
http://purl.obolibrary.org/obo/DOID_4549	extraskeletal myxoid chondrosarcoma	http://purl.obolibrary.org/obo/DOID_3371	chondrosarcoma		A chondrosarcoma that is located_in exclusively soft tissue and that is characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern.
http://purl.obolibrary.org/obo/DOID_4552	large cell carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm.
http://purl.obolibrary.org/obo/DOID_4555	ovarian large-cell neuroendocrine carcinoma	http://purl.obolibrary.org/obo/DOID_4001	ovarian carcinoma		An ovarian carcinoma that is characterized by large pleiomorphic cells with large round or oval nuclei, presence of mitoses and staining for neuroendocrine (NE) markers and has_material_basis_in neuroendocrine cells.
http://purl.obolibrary.org/obo/DOID_4557	oral leukoedema	http://purl.obolibrary.org/obo/DOID_403	mouth disease		A mouth disease that is characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer.
http://purl.obolibrary.org/obo/DOID_456	ascariasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation.
http://purl.obolibrary.org/obo/DOID_4560	non specific chronic endometritis	http://purl.obolibrary.org/obo/DOID_1002	endometritis		An endometritis that is present for weeks or more and does not have an identifiable causative organism.
http://purl.obolibrary.org/obo/DOID_4561	granulomatous endometritis	http://purl.obolibrary.org/obo/DOID_1002	endometritis		An endometritis that is characterized by the presence of granulomas in the uterus.
http://purl.obolibrary.org/obo/DOID_4603	epidermolytic hyperkeratosis	http://purl.obolibrary.org/obo/DOID_1697	ichthyosis		An ichthyosis that is characterized by generalized erythema, skin blisters and skin fragility, manifested at birth.
http://purl.obolibrary.org/obo/DOID_4607	biliary tract cancer	http://purl.obolibrary.org/obo/DOID_0080355	hepatobiliary system cancer		A hepatobiliary system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct.
http://purl.obolibrary.org/obo/DOID_4618	maxillary cancer	http://purl.obolibrary.org/obo/DOID_1862	jaw cancer		A jaw cancer that effects the maxilla or upper jaw.
http://purl.obolibrary.org/obo/DOID_4621	holoprosencephaly	http://purl.obolibrary.org/obo/DOID_2490	congenital nervous system abnormality		A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies.
http://purl.obolibrary.org/obo/DOID_4624	Ollier disease	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet.
http://purl.obolibrary.org/obo/DOID_4647	trilateral retinoblastoma	http://purl.obolibrary.org/obo/DOID_768	retinoblastoma		A retinoblastoma that refers to bilateral retinoblastoma associated with an intracranial primitive neuroectodermal tumor located_in the pineal or suprasellar region.
http://purl.obolibrary.org/obo/DOID_4650	bilateral retinoblastoma	http://purl.obolibrary.org/obo/DOID_768	retinoblastoma		A retinoblastoma that develops in both eyes.
http://purl.obolibrary.org/obo/DOID_4651	unilateral retinoblastoma	http://purl.obolibrary.org/obo/DOID_768	retinoblastoma		A retinoblastoma that effects only one eye.
http://purl.obolibrary.org/obo/DOID_4653	intraocular retinoblastoma	http://purl.obolibrary.org/obo/DOID_768	retinoblastoma		A retinoblastoma that is located_in the eye and has not spread to other parts of the body.
http://purl.obolibrary.org/obo/DOID_4656	extraocular retinoblastoma	http://purl.obolibrary.org/obo/DOID_768	retinoblastoma		A retinoblastoma that has spread from the soft tissues surrounding the eye or to the optic nerve beyond the margin of resection to other parts of the body.
http://purl.obolibrary.org/obo/DOID_4661	multiple chemical sensitivity	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is an adverse physical reaction to low levels of many common chemicals.
http://purl.obolibrary.org/obo/DOID_4662	thalamic disease	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease that is characterized by Dejerine-Roussy syndrome that develops from thalamic injury.
http://purl.obolibrary.org/obo/DOID_4667	kyphosis	http://purl.obolibrary.org/obo/DOID_0080010	bone structure disease		A bone structure disease that has_material_basis_in an abnormal curvature located_in vertebral column.
http://purl.obolibrary.org/obo/DOID_4668	congenital kyphosis	http://purl.obolibrary.org/obo/DOID_4667	kyphosis		A kyphosis that results_in abnormal formation located_in body of vertebra.
http://purl.obolibrary.org/obo/DOID_4674	androgen insensitivity syndrome	http://purl.obolibrary.org/obo/DOID_1923	disorder of sexual development		A disorder of sexual development that is characterized by the inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup.
http://purl.obolibrary.org/obo/DOID_4678	thymus mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/DOID_4531	mucoepidermoid carcinoma		A mucoepidermoid carcinoma located_in the thymus.
http://purl.obolibrary.org/obo/DOID_4679	breast mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/DOID_4680	breast metaplastic carcinoma		A breast metaplastic carcinoma that is characterized by the presence of four cell types (basaloid, intermediate, epidermoid, and mucinous) in varying proportions.
http://purl.obolibrary.org/obo/DOID_4680	breast metaplastic carcinoma	http://purl.obolibrary.org/obo/DOID_3459	breast carcinoma		A breast carcinoma that represents a mixed group of malignant neoplasms characterized by the histologic presence of two or more cellular types.
http://purl.obolibrary.org/obo/DOID_4681	bile duct mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/DOID_4606	bile duct cancer		A mucoepidermoid carcinoma located_in a bile duct.
http://purl.obolibrary.org/obo/DOID_4682	extrahepatic bile duct carcinoma	http://purl.obolibrary.org/obo/DOID_4947	cholangiocarcinoma		A cholangiocarcinoma that arises from the extrahepatic bile ducts.
http://purl.obolibrary.org/obo/DOID_4685	lacrimal gland mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/DOID_4531	mucoepidermoid carcinoma		A mucoepidermoid carcinoma located_in the lacrimal gland.
http://purl.obolibrary.org/obo/DOID_4687	thyroid gland mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/DOID_3963	thyroid gland carcinoma		A thyroid gland carcinoma that is composed of groups of squamoid and mucous cells, surrounded by fibrous tissue.
http://purl.obolibrary.org/obo/DOID_4688	laryngeal mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/DOID_4531	mucoepidermoid carcinoma		A mucoepidermoid carcinoma located_in the larynx.
http://purl.obolibrary.org/obo/DOID_4692	endophthalmitis	http://purl.obolibrary.org/obo/DOID_1242	globe disease		A globe disease that is characterized by inflammation of the inside of the eye.
http://purl.obolibrary.org/obo/DOID_4717	extragonadal germ cell cancer	http://purl.obolibrary.org/obo/DOID_2994	germ cell cancer		A germ cell cancer that derives_from germ cells that are found in areas of the body other than the ovary or testicle. The tumors originate in the sperm forming cells in the testicles or egg producing cells in the ovary.
http://purl.obolibrary.org/obo/DOID_4719	bone giant cell sarcoma	http://purl.obolibrary.org/obo/DOID_2705	malignant giant cell tumor		A malignant giant cell tumor that is composed_of multinucleated giant cells.
http://purl.obolibrary.org/obo/DOID_4723	intracranial hypotension	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease that is characterized by low pressure inside the skull, and thus in the brain tissue and cerebrospinal fluid; may occur as a result of an occult or iatrogenically caused leak of CSF into another body cavity; may result in the downward displacement of the cerebellar tonsils through the foramen magnum or Chiari malformation; has_symptom orthostatic headache; other symptoms are related to compression of cranial nerves due to brain sagging.
http://purl.obolibrary.org/obo/DOID_4724	brain edema	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.
http://purl.obolibrary.org/obo/DOID_4730	vasomotor rhinitis	http://purl.obolibrary.org/obo/DOID_4483	rhinitis		A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food.
http://purl.obolibrary.org/obo/DOID_4731	atrophic rhinitis	http://purl.obolibrary.org/obo/DOID_4483	rhinitis		A rhinitis which involves inflammation of the nose characterized by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues.
http://purl.obolibrary.org/obo/DOID_4739	testicular Brenner tumor	http://purl.obolibrary.org/obo/DOID_2998	testicular cancer		A testicular cancer that has_material_basis_in the surface epithelium of the testis and is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma.
http://purl.obolibrary.org/obo/DOID_4743	mixed testicular germ cell tumor	http://purl.obolibrary.org/obo/DOID_5556	testicular malignant germ cell cancer		A mixed germ cell cancer that is located_in the testis.
http://purl.obolibrary.org/obo/DOID_4744	placenta accreta	http://purl.obolibrary.org/obo/DOID_780	placenta disease		A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium.
http://purl.obolibrary.org/obo/DOID_4757	testicular sex cord-stromal neoplasm	http://purl.obolibrary.org/obo/DOID_192	sex cord-gonadal stromal tumor		A sex cord-gonadal stromal tumor that is located_in the testis.
http://purl.obolibrary.org/obo/DOID_476	breast hemangioma	http://purl.obolibrary.org/obo/DOID_0060082	breast benign neoplasm		A breast benign neoplasm that is characterized by a collection of excess blood vessels.
http://purl.obolibrary.org/obo/DOID_4762	vasculogenic impotence	http://purl.obolibrary.org/obo/DOID_1875	impotence		An impotence that is characterized by an inability to achieve and maintain an erection due to defects in the arterial blood flow to the penis or a defect in venous occlusive function allowing blood drainage from the erectile tissue.
http://purl.obolibrary.org/obo/DOID_4765	pulmonary blastoma	http://purl.obolibrary.org/obo/DOID_1532	pleural disease		A lung cancer that has_material_basis_in tissues of the lung and has_material_basis_in pleural tissues. It is most commonly effects children.
http://purl.obolibrary.org/obo/DOID_4766	embryoma	http://purl.obolibrary.org/obo/DOID_688	embryonal cancer		A carcinosarcoma and embryonal cancer that is located_in embryonic tissue and results_in a mass of rapidly growing cells.
http://purl.obolibrary.org/obo/DOID_4769	pleuropulmonary blastoma	http://purl.obolibrary.org/obo/DOID_4765	pulmonary blastoma		A pulmonary blastoma that derives_from the lung or pleural cavity.
http://purl.obolibrary.org/obo/DOID_4773	congenital mesoblastic nephroma	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		A kidney cancer that is characterized by the presence of fibroblastic cells.
http://purl.obolibrary.org/obo/DOID_4780	anti-basement membrane glomerulonephritis	http://purl.obolibrary.org/obo/DOID_9808	Goodpasture syndrome		A Goodpasture syndrome that is characterized by damage to only kidney capillaries.
http://purl.obolibrary.org/obo/DOID_4795	GM2 gangliosidosis, AB variant	http://purl.obolibrary.org/obo/DOID_3321	GM2 gangliosidosis		A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex.
http://purl.obolibrary.org/obo/DOID_4810	cerebrotendinous xanthomatosis	http://purl.obolibrary.org/obo/DOID_3345	xanthomatosis		A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in homozygous or compound heterozygous mutation in the CYP27A1 gene, which encodes sterol 27-hydroxylase, on chromosome 2q35.
http://purl.obolibrary.org/obo/DOID_4813	adult brain stem glioma	http://purl.obolibrary.org/obo/DOID_4202	brain stem glioma		A brain stem cancer that is characterized by mass lesion of the brainstem in adulthood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells and derives_from glial cells.
http://purl.obolibrary.org/obo/DOID_4817	ganglioneuroma	http://purl.obolibrary.org/obo/DOID_0080321	autonomic nervous system benign neoplasm		An autonomic nervous system benign neoplasm that is characterized by the presence of mature ganglion cells and a mature Schwannian stroma and arises from the sympathetic trunk in the mediastinum.
http://purl.obolibrary.org/obo/DOID_4829	adenosquamous lung carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		An adenosquamous carcinoma located_in lung that derives_from lung tissue composed of at least 10% by volume each of squamous cell carcinoma (SqCC) and adenocarcinoma (AdC) cells.
http://purl.obolibrary.org/obo/DOID_4830	adenosquamous carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A squamous cell carcinoma that contains squamous cells and gland-like cells.
http://purl.obolibrary.org/obo/DOID_4837	Gorham's disease	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones.
http://purl.obolibrary.org/obo/DOID_4838	myoepithelial carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A carcinoma that derives_from myoepithelial cells.
http://purl.obolibrary.org/obo/DOID_4840	sebaceous carcinoma	http://purl.obolibrary.org/obo/DOID_4159	skin cancer		A skin cancer that arises from the sebaceous glands.
http://purl.obolibrary.org/obo/DOID_4845	pilomyxoid astrocytoma	http://purl.obolibrary.org/obo/DOID_4851	pilocytic astrocytoma		A pilocytic astrocytoma that is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies.
http://purl.obolibrary.org/obo/DOID_4851	pilocytic astrocytoma	http://purl.obolibrary.org/obo/DOID_0080830	childhood low-grade glioma		A childhood low-grade glioma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain.
http://purl.obolibrary.org/obo/DOID_4852	pleomorphic xanthoastrocytoma	http://purl.obolibrary.org/obo/DOID_0080829	low grade glioma		A low grade glioma that is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies.
http://purl.obolibrary.org/obo/DOID_4857	diffuse astrocytoma	http://purl.obolibrary.org/obo/DOID_0080829	low grade glioma		A low grade glioma that is characterized by diffuse infiltration of neighboring central nervous system structures.
http://purl.obolibrary.org/obo/DOID_4860	brain stem astrocytic neoplasm	http://purl.obolibrary.org/obo/DOID_4202	brain stem glioma		A brain stem glioma that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells derives_from astrocytes.
http://purl.obolibrary.org/obo/DOID_4867	cervical adenoid cystic carcinoma	http://purl.obolibrary.org/obo/DOID_2893	cervix carcinoma		A cervix carcinoma that is characterized by its resemblance to adenoid cystic carcinoma of the salivary glands. It shows pseudoglandular, cribriform-like and tubular patterns containing basement membrane-like material. Cytologically, the nuclei are angulated and hyperchromatic, without prominent nucleoli.
http://purl.obolibrary.org/obo/DOID_4873	anterior horn cell disease	http://purl.obolibrary.org/obo/DOID_231	motor neuron disease		A motor neuron disease that is characterized by lower motor neuron signs of wasting, weakness, and loss of reflexes and that is located in the anterior horn of the spinal cord that contains the motor neurons responsible for body muscles.
http://purl.obolibrary.org/obo/DOID_4877	breast adenoid cystic carcinoma	http://purl.obolibrary.org/obo/DOID_3459	breast carcinoma		A breast carcinoma that is characterized by the presence of a dual cell population of luminal and basaloid cells arranged in specific growth patterns.
http://purl.obolibrary.org/obo/DOID_4878	esophageal adenoid cystic carcinoma	http://purl.obolibrary.org/obo/DOID_1107	esophageal carcinoma		An esophageal carcinoma that derives_from epithelial cells of the salivary gland.
http://purl.obolibrary.org/obo/DOID_4879	Bartholin's gland adenoid cystic carcinoma	http://purl.obolibrary.org/obo/DOID_3999	Bartholin's gland carcinoma		A Bartholin's gland carcinoma that is characterized by a distinctive pattern in which abnormal nests and columns of cells of bland appearance are arranged concentrically around glandlike spaces filled with eosinophilic periodic acid-Schiff-positive diastase-resistant material.
http://purl.obolibrary.org/obo/DOID_4880	kidney clear cell sarcoma	http://purl.obolibrary.org/obo/DOID_4242	kidney sarcoma		A kidney sarcoma that has_material_basis_in clear cells that are characterized as cells that look clear when viewed under a microscope.
http://purl.obolibrary.org/obo/DOID_4885	Colorado tick fever	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus (Coltivirus dermacentoris), which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue.
http://purl.obolibrary.org/obo/DOID_4889	lymph node tuberculosis	http://purl.obolibrary.org/obo/DOID_9942	lymph node disease		An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough.
http://purl.obolibrary.org/obo/DOID_4890	juvenile myoclonic epilepsy	http://purl.obolibrary.org/obo/DOID_0050705	adolescence-adult electroclinical syndrome		A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years.
http://purl.obolibrary.org/obo/DOID_4892	middle ear adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		A middle ear carcinoma that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_4893	middle ear carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A middle ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
http://purl.obolibrary.org/obo/DOID_4894	rete ovarii adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3713	ovary adenocarcinoma		An ovary adenocarcinoma that arises from the rete ovarii.
http://purl.obolibrary.org/obo/DOID_4895	rete ovarii benign neoplasm	http://purl.obolibrary.org/obo/DOID_0060086	female reproductive organ benign neoplasm		A female reporoductive organ benign neoplasm that is located_in the rete ovarii.
http://purl.obolibrary.org/obo/DOID_4896	bile duct adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		A bile duct carcinoma that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_4897	bile duct carcinoma	http://purl.obolibrary.org/obo/DOID_4606	bile duct cancer		A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
http://purl.obolibrary.org/obo/DOID_4902	appendix carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		An appendix cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
http://purl.obolibrary.org/obo/DOID_4903	granular cell carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A carcinoma that derives_from epithelial cells, with polygonal accumulation of secondary lysosomes in the cytoplasm.
http://purl.obolibrary.org/obo/DOID_4905	pancreatic carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A pancreas cancer that derives_from epithelial cells located_in the exocrine pancreas.
http://purl.obolibrary.org/obo/DOID_4907	small intestine carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A small intestine cancer that develops from epithelial cells and is located_in the small intestine.
http://purl.obolibrary.org/obo/DOID_4908	anal carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A anus cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anus.
http://purl.obolibrary.org/obo/DOID_4910	urethra adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		An urethra cancer that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_4914	esophagus adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		An esophageal carcinoma that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_4917	villous adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, with villous architecture.
http://purl.obolibrary.org/obo/DOID_4918	renal pelvis adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		A renal pelvis carcinoma that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_4920	eccrine adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		An eccrine sweat gland cancer that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_4922	breast secretory carcinoma	http://purl.obolibrary.org/obo/DOID_3458	breast adenocarcinoma		A breast adenocarcinoma that has_material_basis_in cells with abundant granular or clear vacuolated cytoplasm.
http://purl.obolibrary.org/obo/DOID_4923	thymus adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		A thymic carcinoma that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_4926	bronchiolo-alveolar adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3910	lung adenocarcinoma		A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension.
http://purl.obolibrary.org/obo/DOID_4927	Klatskin's tumor	http://purl.obolibrary.org/obo/DOID_4928	intrahepatic cholangiocarcinoma		An intrahepatic cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts.
http://purl.obolibrary.org/obo/DOID_4928	intrahepatic cholangiocarcinoma	http://purl.obolibrary.org/obo/DOID_4947	cholangiocarcinoma		A cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree.
http://purl.obolibrary.org/obo/DOID_4929	tubular adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		An adenocarcinoma that derives_from epithelial cells originating in glandular tissue. The tumor has branched angular tubules embedded in a loose fibrous stroma.
http://purl.obolibrary.org/obo/DOID_4930	nasal cavity adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		A nasal cavity carcinoma that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_4931	nasal cavity carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A nasal cavity cancer that has_material_basis_in epithelial cells.
http://purl.obolibrary.org/obo/DOID_4932	ampulla of Vater carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		An ampulla of Vater cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
http://purl.obolibrary.org/obo/DOID_4933	apocrine carcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		An apocrine sweat gland cancer that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_4938	ureter adenocarcinoma	http://purl.obolibrary.org/obo/DOID_4939	ureter carcinoma		An ureter carcinoma that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_4943	adenocarcinoma in situ	http://purl.obolibrary.org/obo/DOID_8719	in situ carcinoma		An in situ carcinoma that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_4947	cholangiocarcinoma	http://purl.obolibrary.org/obo/DOID_4896	bile duct adenocarcinoma		A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.
http://purl.obolibrary.org/obo/DOID_4948	gallbladder carcinoma	http://purl.obolibrary.org/obo/DOID_3121	gallbladder cancer		A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
http://purl.obolibrary.org/obo/DOID_4952	postpoliomyelitis syndrome	http://purl.obolibrary.org/obo/DOID_4953	poliomyelitis		A poliomyelitis that results in atrophy located in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has symptom muscle weakness, has symptom muscle pain, has symptom sleep apnea, and has symptom breathing problems.
http://purl.obolibrary.org/obo/DOID_4955	central nervous system melanocytic neoplasm	http://purl.obolibrary.org/obo/DOID_3620	central nervous system cancer		A central nervous system cancer that is characterized by melanocytic neoplasm that develops from melanocytes, has_material_basis_in abnormally proliferating cells derives_from neural crest cells.
http://purl.obolibrary.org/obo/DOID_4961	bone marrow disease	http://purl.obolibrary.org/obo/DOID_74	hematopoietic system disease		A hematopoietic system disease that is located_in the bone marrow.
http://purl.obolibrary.org/obo/DOID_4962	pericardial tuberculosis	http://purl.obolibrary.org/obo/DOID_0050829	pericardium disease		An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction.
http://purl.obolibrary.org/obo/DOID_4964	neurotic disorder	http://purl.obolibrary.org/obo/DOID_2030	anxiety disorder		An anxiety disorder that involves discress but neither delusions nor hallucinations.
http://purl.obolibrary.org/obo/DOID_4969	Gerstmann syndrome	http://purl.obolibrary.org/obo/DOID_863	nervous system disease		A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia.
http://purl.obolibrary.org/obo/DOID_4970	prosopagnosia	http://purl.obolibrary.org/obo/DOID_4090	agnosia		An agnosia that results in the loss of the ability to consciously recognize familiar faces.
http://purl.obolibrary.org/obo/DOID_4971	myelofibrosis	http://purl.obolibrary.org/obo/DOID_0070004	myeloid neoplasm		A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue.
http://purl.obolibrary.org/obo/DOID_4974	actinobacillosis	http://purl.obolibrary.org/obo/DOID_1579	respiratory system disease		A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media.
http://purl.obolibrary.org/obo/DOID_4986	nonparalytic poliomyelitis	http://purl.obolibrary.org/obo/DOID_4953	poliomyelitis		A poliomyelitis that results in destruction located in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom fever, has symptom sore throat, has symptom headache, has symptom vomiting, has symptom fatigue, has symptom neck stiffness, and has symptom muscle spasms.
http://purl.obolibrary.org/obo/DOID_4989	pancreatitis	http://purl.obolibrary.org/obo/DOID_26	pancreas disease		A pancreas disease that is characterized by inflammation of the pancreas.
http://purl.obolibrary.org/obo/DOID_4990	essential tremor	http://purl.obolibrary.org/obo/DOID_480	movement disease		A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms.
http://purl.obolibrary.org/obo/DOID_4993	atypical polypoid adenomyoma	http://purl.obolibrary.org/obo/DOID_2609	adenomyoma		An adenomyoma that is a biphasic polypoid lesion consisting of a myofibroblastic stromal component and an endometrial intraepithelial neoplasm.
http://purl.obolibrary.org/obo/DOID_4994	adenomyoma of uterine corpus	http://purl.obolibrary.org/obo/DOID_0060095	uterine benign neoplasm		A uterine benign neoplasm that has_material_basis_in gland and muscle components.
http://purl.obolibrary.org/obo/DOID_4995	cervical adenomyoma	http://purl.obolibrary.org/obo/DOID_0060110	cervical benign neoplasm		A cervical benign neoplasm that has_material_basis_in gland and muscle components.
http://purl.obolibrary.org/obo/DOID_4997	Camurati-Engelmann disease	http://purl.obolibrary.org/obo/DOID_4254	osteosclerosis		An osteosclerosis characterized by the cortical thickening of the diaphyses of the long bones.
http://purl.obolibrary.org/obo/DOID_4998	trichorhinophalangeal syndrome type II	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose.
http://purl.obolibrary.org/obo/DOID_5003	eunuchism	http://purl.obolibrary.org/obo/DOID_1924	hypogonadism		A hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones.
http://purl.obolibrary.org/obo/DOID_5015	fibrolamellar carcinoma	http://purl.obolibrary.org/obo/DOID_684	hepatocellular carcinoma		A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers.
http://purl.obolibrary.org/obo/DOID_502	central nervous system mesenchymal non-meningothelial tumor	http://purl.obolibrary.org/obo/DOID_3620	central nervous system cancer		A central nervous system cancer that is characterized by mesenchymal tumors within the CNS that develops from meninges, has_material_basis_in abnormally proliferating cells derives_from mesoderm.
http://purl.obolibrary.org/obo/DOID_5043	vulvar granular cell tumor	http://purl.obolibrary.org/obo/DOID_0060109	vulvar benign neoplasm		A vulvar benign neoplasm of neural origin that is characterized by round to polyhedral cells with indistinct margins and granular cytoplasm due to the accumulation of lysosomes. They occur in ribbons or clumps separated by hyalinised stroma and collaged fibers with uniform, small and dark staining nuclei.
http://purl.obolibrary.org/obo/DOID_5047	granular cell tumor of the sellar region	http://purl.obolibrary.org/obo/DOID_5048	posterior pituitary gland neoplasm		A posterior pituitary gland neoplasm that arises from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes.
http://purl.obolibrary.org/obo/DOID_5048	posterior pituitary gland neoplasm	http://purl.obolibrary.org/obo/DOID_60009	pituitary gland benign neoplasm		A pituitary gland benign neoplasm that arises from the neurohypophysis.
http://purl.obolibrary.org/obo/DOID_5052	melioidosis	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain.
http://purl.obolibrary.org/obo/DOID_5062	phencyclidine abuse	http://purl.obolibrary.org/obo/DOID_302	substance abuse		A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences.
http://purl.obolibrary.org/obo/DOID_507	adjustment disorder	http://purl.obolibrary.org/obo/DOID_150	disease of mental health		A disease of mental health that is an abnormal and excessive emotional and behavioral reaction to a life stress that develops within 3 months of a life stress, and which is stronger or greater than what would be expected for the type of event that occurred.
http://purl.obolibrary.org/obo/DOID_5074	high grade ependymoma	http://purl.obolibrary.org/obo/DOID_3541	cerebral ventricle cancer		A high grade glioma that is derived from ependymal cells, a type of glial cell, located_in ventricle lining within the central part of the brain.
http://purl.obolibrary.org/obo/DOID_5078	ganglioglioma	http://purl.obolibrary.org/obo/DOID_0060090	central nervous system benign neoplasm		A cell type benign neoplasm that has_material_basis_in glial-type cells.
http://purl.obolibrary.org/obo/DOID_5090	sternum cancer	http://purl.obolibrary.org/obo/DOID_184	bone cancer		A bone cancer and neoplasm of chest wall and sternal disorder that is located_in the sternum.
http://purl.obolibrary.org/obo/DOID_5099	middle ear cancer	http://purl.obolibrary.org/obo/DOID_5100	middle ear disease		An ear cancer that is located_in the middle ear.
http://purl.obolibrary.org/obo/DOID_5102	inner ear cancer	http://purl.obolibrary.org/obo/DOID_2952	inner ear disease		An ear cancer located_in the inner ear.
http://purl.obolibrary.org/obo/DOID_5112	copper deficiency myelopathy	http://purl.obolibrary.org/obo/DOID_5113	nutritional deficiency disease		A nutritional deficiency disease that is characterized by deficiency of copper, causing spastic gait and ataxia, often with anemia and neutropenia, has_symptom imbalance and jerking movements, and has_material_basis_in copper deficiency possibly due to malabsorption or excess zinc ingestion.
http://purl.obolibrary.org/obo/DOID_5117	dermoid cyst of ovary	http://purl.obolibrary.org/obo/DOID_2658	dermoid cyst		A dermoid cyst that is located_in the ovary.
http://purl.obolibrary.org/obo/DOID_5118	ovarian cystic teratoma	http://purl.obolibrary.org/obo/DOID_6231	mature teratoma of the ovary		A cystic teratoma that is located_in the ovary.
http://purl.obolibrary.org/obo/DOID_5123	mediastinum leiomyoma	http://purl.obolibrary.org/obo/DOID_127	leiomyoma		A thoracic benign neoplasm that derives_from smooth muscle cells and is located_in the mediastinum.
http://purl.obolibrary.org/obo/DOID_5124	fallopian tube leiomyoma	http://purl.obolibrary.org/obo/DOID_127	leiomyoma		A fallopian tube benign neoplasm that has_material_basis_in smooth muscle cells.
http://purl.obolibrary.org/obo/DOID_5125	extrahepatic bile duct leiomyoma	http://purl.obolibrary.org/obo/DOID_4138	bile duct disease		A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the extrahepatic bile duct.
http://purl.obolibrary.org/obo/DOID_5126	central nervous system leiomyoma	http://purl.obolibrary.org/obo/DOID_127	leiomyoma		A central nervous system benign neoplasm that derives_from smooth muscle cells.
http://purl.obolibrary.org/obo/DOID_5128	deep leiomyoma	http://purl.obolibrary.org/obo/DOID_127	leiomyoma		A leiomyoma that is located_in deep soft tissue.
http://purl.obolibrary.org/obo/DOID_5134	anus leiomyoma	http://purl.obolibrary.org/obo/DOID_127	leiomyoma		A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the anus.
http://purl.obolibrary.org/obo/DOID_5136	lung leiomyoma	http://purl.obolibrary.org/obo/DOID_127	leiomyoma		A lung benign neoplasm that derives_from some smooth muscle cell.
http://purl.obolibrary.org/obo/DOID_5137	pericardium leiomyoma	http://purl.obolibrary.org/obo/DOID_127	leiomyoma		A cardiovascular organ benign neoplasm that derives_from smooth muscle cells and that is located_in the pericardium.
http://purl.obolibrary.org/obo/DOID_5138	leiomyomatosis	http://purl.obolibrary.org/obo/DOID_127	leiomyoma		A leiomyoma that is multiple and diffuse.
http://purl.obolibrary.org/obo/DOID_5139	cellular leiomyoma	http://purl.obolibrary.org/obo/DOID_127	leiomyoma		A leiomyoma that is a morphological variant of leiomyoma and is characterized by increased cellularity, no atypia and no mitotic figures.
http://purl.obolibrary.org/obo/DOID_5140	gallbladder leiomyoma	http://purl.obolibrary.org/obo/DOID_127	leiomyoma		A gastrointestinal system benign neoplasm that is located_in the gallbladder and derives_from smooth muscle cells.
http://purl.obolibrary.org/obo/DOID_5142	vulvar leiomyoma	http://purl.obolibrary.org/obo/DOID_0060109	vulvar benign neoplasm		A vulvar benign neoplasm that is located_in smooth muscle cells.
http://purl.obolibrary.org/obo/DOID_5146	appendix leiomyoma	http://purl.obolibrary.org/obo/DOID_60000	appendix disease		A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the appendix.
http://purl.obolibrary.org/obo/DOID_5147	dartoic leiomyoma	http://purl.obolibrary.org/obo/DOID_0050622	reproductive organ benign neoplasm		A reproductive organ benign neoplasm that has_material_basis_in the dartos muscle located_in the scrotum or labia majora.
http://purl.obolibrary.org/obo/DOID_5154	borna disease	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus (Orthobornavirus bornaense), which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment.
http://purl.obolibrary.org/obo/DOID_5162	arteriolosclerosis	http://purl.obolibrary.org/obo/DOID_2349	arteriosclerosis		An arteriosclerosis that is characterized by thickening of the wall of the small arteries and arterioles, caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy, and results in lumen narrowing and tissue ischemia.
http://purl.obolibrary.org/obo/DOID_5165	uterine corpus sarcoma	http://purl.obolibrary.org/obo/DOID_9460	uterine corpus cancer		An uterine corpus cancer that is located_in the muscles of the uterus or located_in other tissues that support the uterus.
http://purl.obolibrary.org/obo/DOID_5169	ovarian endometrioid stromal sarcoma	http://purl.obolibrary.org/obo/DOID_2146	ovary sarcoma		An ovary sarcoma that arises from endometrial stromal tissue.
http://purl.obolibrary.org/obo/DOID_5170	vaginal endometrial stromal sarcoma	http://purl.obolibrary.org/obo/DOID_1901	vagina sarcoma		A vagina sarcoma that has_material_basis_in endometrial stroma.
http://purl.obolibrary.org/obo/DOID_5171	vaginal endometrial stromal tumor	http://purl.obolibrary.org/obo/DOID_119	vaginal cancer		A vaginal cancer that has_material_basis_in endometrial stroma.
http://purl.obolibrary.org/obo/DOID_5172	endometrium carcinoma in situ	http://purl.obolibrary.org/obo/DOID_8719	in situ carcinoma		An in situ carcinoma that is located_in the endometrium.
http://purl.obolibrary.org/obo/DOID_5183	hereditary Wilms' tumor	http://purl.obolibrary.org/obo/DOID_2154	nephroblastoma		A nephroblastoma that results_in either bilateral disease or a family history of Wilms' tumour.
http://purl.obolibrary.org/obo/DOID_5190	cervical Wilms' tumor	http://purl.obolibrary.org/obo/DOID_4112	cervical carcinosarcoma		A cervical carcinosarcoma is located_in the cervix with morphological features resembling Wilms tumor of the kidney.
http://purl.obolibrary.org/obo/DOID_5196	fallopian tube adenomatoid tumor	http://purl.obolibrary.org/obo/DOID_657	adenoma		A fallopian tube benign neoplasm that derives_from mesothelium.
http://purl.obolibrary.org/obo/DOID_5199	ureteral obstruction	http://purl.obolibrary.org/obo/DOID_5200	urinary tract obstruction		An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.
http://purl.obolibrary.org/obo/DOID_5204	fructose-1,6-bisphosphatase deficiency	http://purl.obolibrary.org/obo/DOID_2978	carbohydrate metabolic disorder		A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis.
http://purl.obolibrary.org/obo/DOID_5207	monodermal teratoma	http://purl.obolibrary.org/obo/DOID_5567	ovarian germ cell teratoma		An ovarian germ cell teratoma that has_material_basis_in a tissue type from one germ cell layer (ectoderm, mesoderm or endoderm).
http://purl.obolibrary.org/obo/DOID_5208	malignant struma ovarii	http://purl.obolibrary.org/obo/DOID_2641	ovarian germ cell monodermal and highly specialized teratoma		A struma ovarii that is cancerous.
http://purl.obolibrary.org/obo/DOID_5213	chronic inflammatory demyelinating polyradiculoneuropathy	http://purl.obolibrary.org/obo/DOID_0060033	autoimmune disease of peripheral nervous system		An autoimmune disease of peripheral nervous system that is characterized by inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers.
http://purl.obolibrary.org/obo/DOID_5251	inflammatory leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_1967	leiomyosarcoma		A leiomyosarcoma that is characterized by a prominent intristic inflammatory component.
http://purl.obolibrary.org/obo/DOID_5253	conventional leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_1967	leiomyosarcoma		A leiomyosarcoma that is not histologically defined as spindle cell leiomyosarcoma, epithelioid leiomyosarcoma, or myxoid leiomyosarcoma.
http://purl.obolibrary.org/obo/DOID_5254	central nervous system leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_502	central nervous system mesenchymal non-meningothelial tumor		A leiomyosarcoma that is located_in the central nervous system.
http://purl.obolibrary.org/obo/DOID_5258	granular cell leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_1967	leiomyosarcoma		A leiomyosarcoma that is characterized by a proliferation of cells containing abundant granular eosinophilic cytoplasm.
http://purl.obolibrary.org/obo/DOID_5259	colon leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_1967	leiomyosarcoma		A leiomyosarcoma and sarcoma of colon that is located_in the colon.
http://purl.obolibrary.org/obo/DOID_526	human immunodeficiency virus infectious disease	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.
http://purl.obolibrary.org/obo/DOID_5260	colon sarcoma	http://purl.obolibrary.org/obo/DOID_219	colon cancer		A colon cancer that arises from transformed cells of mesenchymal origin and is located_in the colon.
http://purl.obolibrary.org/obo/DOID_5262	heart sarcoma	http://purl.obolibrary.org/obo/DOID_117	heart cancer		A sarcoma and malignant neoplasm of heart that is located_in the heart.
http://purl.obolibrary.org/obo/DOID_5263	ovary leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_1967	leiomyosarcoma		An ovary sarcoma that arises from smooth muscle progenitors.
http://purl.obolibrary.org/obo/DOID_5264	epithelioid leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_1967	leiomyosarcoma		A leiomyosarcoma that is composed predominantly or entirely of round or polygonal cells with eosinophilic, or much less commonly, clear cytoplasm.
http://purl.obolibrary.org/obo/DOID_5265	lung leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_1967	leiomyosarcoma		A leiomyosarcoma and sarcoma of lung that is located_in the lung.
http://purl.obolibrary.org/obo/DOID_5267	anus leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_1967	leiomyosarcoma		A leiomyosarcoma and sarcoma of the anus that is located_in the anus.
http://purl.obolibrary.org/obo/DOID_5268	myxoid leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_1967	leiomyosarcoma		A leiomyosarcoma that is characterized by abundant myxoid stroma.
http://purl.obolibrary.org/obo/DOID_5271	small intestine leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_10154	small intestine cancer		A small intestine sarcoma that affects the involuntary smooth muscles of the small intestines.
http://purl.obolibrary.org/obo/DOID_5272	small intestinal sarcoma	http://purl.obolibrary.org/obo/DOID_10154	small intestine cancer		A sarcoma and malignant tumor of small intestine that is located_in the small intestine.
http://purl.obolibrary.org/obo/DOID_5275	gallbladder leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_3121	gallbladder cancer		A gallbladder sarcoma that is located_in the soft tissues of the gallbladder.
http://purl.obolibrary.org/obo/DOID_5282	prostate leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_4054	prostate sarcoma		A prostate sarcoma that is located_in the prostate.
http://purl.obolibrary.org/obo/DOID_5283	vagina leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_1901	vagina sarcoma		A vagina sarcoma that has_material_basis_in smooth muscle.
http://purl.obolibrary.org/obo/DOID_5285	breast leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_3017	breast sarcoma		A breast sarcoma that arises from smooth muscle cells.
http://purl.obolibrary.org/obo/DOID_5286	vulvar leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_2096	vulvar sarcoma		A vulvar sarcoma that has_material_basis_in smooth muscle cells.
http://purl.obolibrary.org/obo/DOID_5287	kidney leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_4242	kidney sarcoma		A leiomyosarcoma and sarcoma of kidney that is located_in the kidney.
http://purl.obolibrary.org/obo/DOID_5288	larynx leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_1967	leiomyosarcoma		A leiomyosarcoma located_in the larynx.
http://purl.obolibrary.org/obo/DOID_5289	uterus leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_5165	uterine corpus sarcoma		A uterine Corpus sarcoma and leiomyosarcoma and uterine Corpus smooth muscle neoplasm that is located_in the smooth muscle of the uterus.
http://purl.obolibrary.org/obo/DOID_529	blepharospasm	http://purl.obolibrary.org/obo/DOID_0050836	focal dystonia		A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks.
http://purl.obolibrary.org/obo/DOID_5292	mediastinum leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_1967	leiomyosarcoma		A leiomyosarcoma and sarcoma of the mediastinum that derive_from smooth muscle and are usually located_in the esophagus or located_in the main vessels.
http://purl.obolibrary.org/obo/DOID_5293	extrahepatic bile duct leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_4682	extrahepatic bile duct carcinoma		A leiomyosarcoma and sarcoma of bile duct that is located_in the bile duct or located_in the outside of the liver.
http://purl.obolibrary.org/obo/DOID_5296	liver leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_270	liver sarcoma		A leiomyosarcoma and sarcoma of liver that is located_in the liver.
http://purl.obolibrary.org/obo/DOID_5297	rectum leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_1995	rectum sarcoma		A rectum sarcoma that is a smooth muscle tumor and is located_in the rectum.
http://purl.obolibrary.org/obo/DOID_5299	endometrial clear cell adenocarcinoma	http://purl.obolibrary.org/obo/DOID_2870	endometrial adenocarcinoma		An endometrial adenocarcinoma that is characterized by the presence of cells with clear cytoplasm.
http://purl.obolibrary.org/obo/DOID_5301	fallopian tube clear cell adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3706	fallopian tube adenocarcinoma		A fallopian tube adenocarcinoma that derives_from epithelial cells which have clear cytoplasm.
http://purl.obolibrary.org/obo/DOID_5302	uterine ligament clear cell adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3700	uterine ligament adenocarcinoma		A uterine ligament adenocarcinoma that derives_from epithelial cells which have clear cytoplasm.
http://purl.obolibrary.org/obo/DOID_5303	cervical clear cell adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3702	cervical adenocarcinoma		A cervical adenocarcinoma that derives_from epithelial cells which have clear cytoplasm.
http://purl.obolibrary.org/obo/DOID_5304	ovarian clear cell adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3713	ovary adenocarcinoma		A ovarian adenocarcinoma that derives_from epithelial cells which have clear cytoplasm.
http://purl.obolibrary.org/obo/DOID_5306	bladder clear cell adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3711	bladder adenocarcinoma		A clear cell adenocarcinoma that is located_in the bladder.
http://purl.obolibrary.org/obo/DOID_5307	urethra clear cell adenocarcinoma	http://purl.obolibrary.org/obo/DOID_4910	urethra adenocarcinoma		A clear cell adenocarcinoma that is located_in the urethra.
http://purl.obolibrary.org/obo/DOID_5310	glycogen-rich clear cell breast carcinoma	http://purl.obolibrary.org/obo/DOID_0081028	glycogen-rich carcinoma		A glycogen-rich carcinoma that is characterized by predominantly clear cytoplasm due to glycogen.
http://purl.obolibrary.org/obo/DOID_5313	vulvar alveolar soft part sarcoma	http://purl.obolibrary.org/obo/DOID_2096	vulvar sarcoma		An alveolar soft part sarcoma and vulvar sarcoma that is located_in the vulva.
http://purl.obolibrary.org/obo/DOID_5324	fallopian tube germ cell cancer	http://purl.obolibrary.org/obo/DOID_2994	germ cell cancer		A fallopian tube cancer that derives_from germ cells.
http://purl.obolibrary.org/obo/DOID_5325	Roberts syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ESCO2 gene on chromosome 8p21.1.
http://purl.obolibrary.org/obo/DOID_5340	anterograde amnesia	http://purl.obolibrary.org/obo/DOID_10914	amnestic disorder		An amnestic disorder that involves the impaired or lost ability to memorize new things.
http://purl.obolibrary.org/obo/DOID_5342	childhood endodermal sinus tumor	http://purl.obolibrary.org/obo/DOID_1911	endodermal sinus tumor		An endodermal sinus tumor that occurs in children.
http://purl.obolibrary.org/obo/DOID_5345	testicular non-seminomatous germ cell cancer	http://purl.obolibrary.org/obo/DOID_5556	testicular malignant germ cell cancer		A testicular malignant germ cell cancer that is characterized by the absence of a seminomatous component.
http://purl.obolibrary.org/obo/DOID_5348	adult endodermal sinus tumor	http://purl.obolibrary.org/obo/DOID_1911	endodermal sinus tumor		An endodermal sinus tumor that occurs in adults.
http://purl.obolibrary.org/obo/DOID_5350	ovarian endodermal sinus tumor	http://purl.obolibrary.org/obo/DOID_5351	ovarian primitive germ cell tumor		An ovarian primitive germ cell tumor that has_material_basis_in cells that line the yolk sac of the embryo.
http://purl.obolibrary.org/obo/DOID_5351	ovarian primitive germ cell tumor	http://purl.obolibrary.org/obo/DOID_2155	malignant ovarian germ cell neoplasm		A malignant ovarian germ cell neoplasm that has_material_basis_in primitive germ cells.
http://purl.obolibrary.org/obo/DOID_5362	focal epithelial hyperplasia	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity.
http://purl.obolibrary.org/obo/DOID_5363	myxoid liposarcoma	http://purl.obolibrary.org/obo/DOID_3382	liposarcoma		A liposarcoma that is characterized by the presence of a hypocellular spindle cell proliferation set in a myxoid background and has_material_basis_in chromosomal translocations.
http://purl.obolibrary.org/obo/DOID_5368	Wolffian duct adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3702	cervical adenocarcinoma		A cervical adenocarcinoma that has_material_basis_in remnants of mesonephric ducts and is located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts.
http://purl.obolibrary.org/obo/DOID_5370	breast hemangiopericytoma	http://purl.obolibrary.org/obo/DOID_3017	breast sarcoma		A hemangiopericytoma that is manifested in the breast.
http://purl.obolibrary.org/obo/DOID_5381	bile duct adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		A biliary tract benign neoplasm that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma.
http://purl.obolibrary.org/obo/DOID_5382	Bartholin's gland adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		A Bartholin's gland benign neoplasm that is characterized by glands or glandlike structures and has_material_basis_in epithelial tissue.
http://purl.obolibrary.org/obo/DOID_5384	bile duct cystadenoma	http://purl.obolibrary.org/obo/DOID_4138	bile duct disease		A biliary tract benign neoplasm that is located_in the bile duct and derives_from epithelial cells.
http://purl.obolibrary.org/obo/DOID_5385	mixed cell adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		An adenoma that has_material_basis_in more than one cell type.
http://purl.obolibrary.org/obo/DOID_5386	lung adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		A lung benign neoplasm that derives_from glandular epithelial cells.
http://purl.obolibrary.org/obo/DOID_5387	middle ear adenoma	http://purl.obolibrary.org/obo/DOID_5100	middle ear disease		A sensory organ benign neoplasm that is located_in the middle ear.
http://purl.obolibrary.org/obo/DOID_5390	clear cell adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		An adenoma that is composed_of cells with a clear cytoplasm located_in ovary.
http://purl.obolibrary.org/obo/DOID_5396	prolactin producing pituitary tumor	http://purl.obolibrary.org/obo/DOID_4916	pituitary carcinoma		A pituitary carcinoma that is located_in the anterior lobe of the pituitary gland that produces prolactin.
http://purl.obolibrary.org/obo/DOID_5398	lipoadenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		An adenoma that is composed_of epithelial cells admixed with adipose tissue cells.
http://purl.obolibrary.org/obo/DOID_5401	water-clear cell adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		An adenoma that derives_from epithelial cells which have clear cytoplasm.
http://purl.obolibrary.org/obo/DOID_5402	vaginal adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		A vaginal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin.
http://purl.obolibrary.org/obo/DOID_5403	microcystic adenoma	http://purl.obolibrary.org/obo/DOID_0060084	cell type benign neoplasm		A pancreatic cystadenoma that is characterized by innumerable small cysts lined by bland clear cells.
http://purl.obolibrary.org/obo/DOID_5408	Paget's disease of bone	http://purl.obolibrary.org/obo/DOID_205	hyperostosis		A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs.
http://purl.obolibrary.org/obo/DOID_5418	schizoaffective disorder	http://purl.obolibrary.org/obo/DOID_2468	psychotic disorder		A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality.
http://purl.obolibrary.org/obo/DOID_5425	ovarian hyperstimulation syndrome	http://purl.obolibrary.org/obo/DOID_1100	ovarian disease		An ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and has_symptom abdominal pain, has_symptom nausea and has_symptom vomiting. This disease is an iatrogenic complication of assisted reproduction technology.
http://purl.obolibrary.org/obo/DOID_5426	primary ovarian insufficiency	http://purl.obolibrary.org/obo/DOID_1100	ovarian disease		An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.
http://purl.obolibrary.org/obo/DOID_5437	intrahepatic bile duct adenoma	http://purl.obolibrary.org/obo/DOID_5381	bile duct adenoma		A bile duct adenoma located_in an intrahepatic bile duct.
http://purl.obolibrary.org/obo/DOID_5438	extrahepatic bile duct adenoma	http://purl.obolibrary.org/obo/DOID_5381	bile duct adenoma		A bile duct adenoma that is composed_of papillary, tubular, or combined tubulopapillary structures lined by dysplastic epithelium.
http://purl.obolibrary.org/obo/DOID_5446	eccrine papillary adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		A eccrine sweat gland neoplasm that is characterized by isolated well-circumscribed dermal nodule existent for a prolonged duration of time.
http://purl.obolibrary.org/obo/DOID_5453	pulmonary venoocclusive disease	http://purl.obolibrary.org/obo/DOID_6432	pulmonary hypertension		A pulmonary hypertension that is characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension.
http://purl.obolibrary.org/obo/DOID_5465	conjunctival intraepithelial neoplasm	http://purl.obolibrary.org/obo/DOID_4251	conjunctival disease		A pre-malignant neoplasm that is characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that is restricted within the epithelium.
http://purl.obolibrary.org/obo/DOID_5468	biliary papillomatosis	http://purl.obolibrary.org/obo/DOID_2615	papilloma		A biliary tract benign neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree.
http://purl.obolibrary.org/obo/DOID_5474	ovarian serous adenofibroma	http://purl.obolibrary.org/obo/DOID_0060112	ovarian benign neoplasm		An ovarian benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by the presence of serous fluid.
http://purl.obolibrary.org/obo/DOID_5475	uterine corpus adenofibroma	http://purl.obolibrary.org/obo/DOID_0060095	uterine benign neoplasm		An uterine benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.
http://purl.obolibrary.org/obo/DOID_5476	cervical adenofibroma	http://purl.obolibrary.org/obo/DOID_0060110	cervical benign neoplasm		A cervical benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.
http://purl.obolibrary.org/obo/DOID_5477	clear cell adenofibroma	http://purl.obolibrary.org/obo/DOID_2683	adenofibroma		An adenofibroma that is characterized by the presence of cells with clear cytoplasm.
http://purl.obolibrary.org/obo/DOID_5478	fallopian tube adenofibroma	http://purl.obolibrary.org/obo/DOID_0060111	fallopian tube benign neoplasm		A fallopian tube benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.
http://purl.obolibrary.org/obo/DOID_5479	papillary adenofibroma	http://purl.obolibrary.org/obo/DOID_2683	adenofibroma		An adenofibroma that is characterized by finger-like projections on histology.
http://purl.obolibrary.org/obo/DOID_5480	ovarian endometrioid adenofibroma	http://purl.obolibrary.org/obo/DOID_0060112	ovarian benign neoplasm		An ovarian benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by endometrial tissue.
http://purl.obolibrary.org/obo/DOID_5482	cystadenofibroma	http://purl.obolibrary.org/obo/DOID_0060112	ovarian benign neoplasm		An ovarian benign neoplasm that is composed_of epithelial ovarian tissue.
http://purl.obolibrary.org/obo/DOID_5485	synovial sarcoma	http://purl.obolibrary.org/obo/DOID_2706	synovium cancer		A synovium cancer which develops in the synovial membrane of the joints.
http://purl.obolibrary.org/obo/DOID_5488	mediastinum synovial sarcoma	http://purl.obolibrary.org/obo/DOID_5485	synovial sarcoma		A synovial sarcoma that is located_in the mediastinum.
http://purl.obolibrary.org/obo/DOID_5501	Pediculus humanus capitis infestation	http://purl.obolibrary.org/obo/DOID_5502	lice infestation		A lice infestation that involves colonization of the hair and skin by the parasitic insect Pediculus humanus capitis, which feeds on blood several times daily and resides close to the scalp to maintain its body temperature. The symptoms include tickling feeling of something moving in the hair, itching, caused by an allergic reaction to louse saliva, and irritability.
http://purl.obolibrary.org/obo/DOID_5503	spinal cord ependymoma	http://purl.obolibrary.org/obo/DOID_5074	high grade ependymoma		A high grade ependymoma that has_material_basis_in cells linking the spinal cord central canal.
http://purl.obolibrary.org/obo/DOID_5508	brain stem ependymoma	http://purl.obolibrary.org/obo/DOID_5074	high grade ependymoma		A high grade ependymoma that is characterized by abnormal growth of the neuroepithelial lining of the ventricular system, has_material_basis_in abnormally proliferating cells derives_from ependymal cells.
http://purl.obolibrary.org/obo/DOID_551	toxic pneumonitis	http://purl.obolibrary.org/obo/DOID_552	pneumonia		A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects.
http://purl.obolibrary.org/obo/DOID_5511	dysgerminoma of ovary	http://purl.obolibrary.org/obo/DOID_4441	dysgerminoma		A dysgerminoma that is located_in the ovary.
http://purl.obolibrary.org/obo/DOID_5513	Pediculus humanus corporis infestation	http://purl.obolibrary.org/obo/DOID_5502	lice infestation		A lice infestation that is a cutaneous condition caused by parasitic infestation of body lice Pediculus humanus corporis, which feed on the human blood. Body lice can spread epidemic typhus, trench fever, and louse-borne relapsing fever.
http://purl.obolibrary.org/obo/DOID_5514	breast squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A breast metaplastic carcinoma that arises from squamous epithelial cells.
http://purl.obolibrary.org/obo/DOID_5515	nasal cavity squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A nasal cavity carcinoma that has_material_basis_in squamous cells.
http://purl.obolibrary.org/obo/DOID_5516	gastric squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A squamous cell carcinoma that is located_in the stomach.
http://purl.obolibrary.org/obo/DOID_5517	stomach carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A stomach cancer that is located_in the stomach.
http://purl.obolibrary.org/obo/DOID_5518	penis squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A penis carcinoma that has_material_basis_in squamous cells.
http://purl.obolibrary.org/obo/DOID_5519	colon squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A squamous cell carcinoma that is located_in the colon.
http://purl.obolibrary.org/obo/DOID_5520	head and neck squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck.
http://purl.obolibrary.org/obo/DOID_5521	keratinizing squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A squamous cell carcinoma that presents as single, isolated cells with bizarre cytoplasmic shapes, intense cytoplasmic eosinophilia, and intensely hyperchromatic, angular nuclei in a background of necrotic and keratinous debris.
http://purl.obolibrary.org/obo/DOID_5522	basaloid squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A squamous cell carcinoma that has a solid, closely packed growth of cells with hyperchromatic nuclei, scant cytoplasm, small cystic spaces, and foci of necrosis. It has overlying squamous dysplasia, rare foci of overt keratinization, and/or coexistent keratinizing squamous cell carcinoma.
http://purl.obolibrary.org/obo/DOID_5524	adenoid squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_8858	tonsil cancer		A squamous cell carcinoma that is characterized by a tubular microscopic pattern and keratinocyte acantholysis.
http://purl.obolibrary.org/obo/DOID_5525	anal squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		An anal carcinoma that arises near the squamocolumnar junction.
http://purl.obolibrary.org/obo/DOID_5526	middle ear squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A middle ear carcinoma that has_material_basis_in squamous cells.
http://purl.obolibrary.org/obo/DOID_5527	ampulla of Vater squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		An ampulla of Vater carcinoma that derives_from epithelial squamous cells.
http://purl.obolibrary.org/obo/DOID_5528	rectum squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A squamous cell carcinoma that is located_in the rectum.
http://purl.obolibrary.org/obo/DOID_5529	lacrimal gland squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A squamous cell carcinoma that is located_in the lacrimal gland.
http://purl.obolibrary.org/obo/DOID_5530	thymus squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A squamous cell carcinoma that is located_in the thymus.
http://purl.obolibrary.org/obo/DOID_5531	ovarian squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_2394	ovarian cancer		An ovarian carcinoma that derives_from squamous epithelial cells.
http://purl.obolibrary.org/obo/DOID_5533	endometrial squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		An endometrial carcinoma that has_material_basis_in squamous cells.
http://purl.obolibrary.org/obo/DOID_5534	renal pelvis squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A squamous cell carcinoma that is located_in the renal pelvis.
http://purl.obolibrary.org/obo/DOID_5535	gallbladder squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A squamous cell carcinoma that is located_in the gallbladder.
http://purl.obolibrary.org/obo/DOID_5537	squamous cell bile duct carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A squamous cell carcinoma that is located_in the bile duct.
http://purl.obolibrary.org/obo/DOID_5538	external ear squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A squamous cell carcinoma that is located_in the external ear.
http://purl.obolibrary.org/obo/DOID_5539	ureter squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_4939	ureter carcinoma		A squamous cell carcinoma that is located_in the ureter.
http://purl.obolibrary.org/obo/DOID_5540	fallopian tube squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A fallopian tube carcinoma that derives_from squamous epithelial cells.
http://purl.obolibrary.org/obo/DOID_5546	femoral cancer	http://purl.obolibrary.org/obo/DOID_184	bone cancer		A bone cancer that is located_in the femur.
http://purl.obolibrary.org/obo/DOID_5547	pulmonary artery choriocarcinoma	http://purl.obolibrary.org/obo/DOID_60001	pulmonary artery disease		A choriocarcinoma that is located_in the pulmonary artery.
http://purl.obolibrary.org/obo/DOID_5550	choriocarcinoma of ovary	http://purl.obolibrary.org/obo/DOID_3594	choriocarcinoma		A malignant ovarian germ cell neoplasm that has_material_basis_in trophoblastic cells.
http://purl.obolibrary.org/obo/DOID_5551	choriocarcinoma of the testis	http://purl.obolibrary.org/obo/DOID_3594	choriocarcinoma		A choriocarcinoma that is located_in the testis.
http://purl.obolibrary.org/obo/DOID_5557	testicular germ cell cancer	http://purl.obolibrary.org/obo/DOID_2998	testicular cancer		A testicular cancer that has_material_basis_in germ cells.
http://purl.obolibrary.org/obo/DOID_5559	mediastinal cancer	http://purl.obolibrary.org/obo/DOID_5093	thoracic cancer		A thoracic cancer that is located_in the mediastinum.
http://purl.obolibrary.org/obo/DOID_5561	gastric teratoma	http://purl.obolibrary.org/obo/DOID_10534	stomach cancer		A teratoma that is located_in the stomach or other gastric tissue.
http://purl.obolibrary.org/obo/DOID_5563	malignant teratoma	http://purl.obolibrary.org/obo/DOID_3307	teratoma		A teratoma that is cancerous.
http://purl.obolibrary.org/obo/DOID_5564	fallopian tube teratoma	http://purl.obolibrary.org/obo/DOID_1964	fallopian tube cancer		A fallopian tube germ cell cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers.
http://purl.obolibrary.org/obo/DOID_5565	adult teratoma	http://purl.obolibrary.org/obo/DOID_0080602	benign teratoma		A benign teratoma that is present in an adult.
http://purl.obolibrary.org/obo/DOID_5566	mature teratoma	http://purl.obolibrary.org/obo/DOID_3307	teratoma		A teratoma that is composed exclusively of mature tissues derived from two or three germ layers.
http://purl.obolibrary.org/obo/DOID_5568	mediastinum teratoma	http://purl.obolibrary.org/obo/DOID_5559	mediastinal cancer		A teratoma that is located_in the mediastinum.
http://purl.obolibrary.org/obo/DOID_5572	Beckwith-Wiedemann syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations.
http://purl.obolibrary.org/obo/DOID_5577	gastrinoma	http://purl.obolibrary.org/obo/DOID_169	neuroendocrine tumor		A neuroendocrine tumor that results_in an overproduction of gastric acid.
http://purl.obolibrary.org/obo/DOID_5583	lung giant cell carcinoma	http://purl.obolibrary.org/obo/DOID_4556	lung large cell carcinoma		A lung carcinoma that is located_in large undifferentiated cells.
http://purl.obolibrary.org/obo/DOID_5587	Volkmann contracture	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A connective tissue disease that develops from prolonged ischemia and results in permanent necrosis, stiffening, and shortening of affected muscles.
http://purl.obolibrary.org/obo/DOID_5588	lung papillary adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3910	lung adenocarcinoma		A papillary adenocarcinoma that is located_in the lung.
http://purl.obolibrary.org/obo/DOID_5590	aggressive digital papillary adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		A sweat gland carcinoma characterized by predominantly digital location with a high recurrence rate and metastatic potential.
http://purl.obolibrary.org/obo/DOID_5592	breast papillary carcinoma	http://purl.obolibrary.org/obo/DOID_3459	breast carcinoma		A breast carcinoma that is characterized by the presence of arborescent fibrovascular stalks lined by epithelial cells, grossly forming a circumscribed mass.
http://purl.obolibrary.org/obo/DOID_5593	gastric papillary adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3717	gastric adenocarcinoma		A papillary adenocarcinoma that is located_in the stomach.
http://purl.obolibrary.org/obo/DOID_5597	fallopian tube papillary adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3706	fallopian tube adenocarcinoma		A fallopian tube adenocarcinoma that is characterized by a papillary growth pattern.
http://purl.obolibrary.org/obo/DOID_5598	fallopian tube serous adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3706	fallopian tube adenocarcinoma		A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.
http://purl.obolibrary.org/obo/DOID_560	jaw-winking syndrome	http://purl.obolibrary.org/obo/DOID_5656	cranial nerve disease		A cranial nerve disease characterized by unilateral congenital ptosis and rapid exaggerated elevation of the ptotic lid on moving of the lower jaw.
http://purl.obolibrary.org/obo/DOID_5602	T-cell adult acute lymphocytic leukemia	http://purl.obolibrary.org/obo/DOID_5604	adult acute lymphocytic leukemia		An adult acute lymphocytic leukemia occurring in adults and that has_material_basis_in T cells.
http://purl.obolibrary.org/obo/DOID_5603	T-cell acute lymphoblastic leukemia	http://purl.obolibrary.org/obo/DOID_9952	acute lymphoblastic leukemia		An acute lymphoblastic leukemia that is characterized by too many T-cell lymphoblasts found in the bone marrow and blood.
http://purl.obolibrary.org/obo/DOID_5605	breast medullary carcinoma	http://purl.obolibrary.org/obo/DOID_3458	breast adenocarcinoma		A breast adenocarcinoma that is characterized by a syncitial growth pattern and high grade cytology.
http://purl.obolibrary.org/obo/DOID_5621	histiocytic and dendritic cell cancer	http://purl.obolibrary.org/obo/DOID_2531	hematologic cancer		A sarcoma and hematologic cancer that derives_from follicular lymphoma.
http://purl.obolibrary.org/obo/DOID_5623	adenosquamous breast carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A breast metaplastic carcinoma that is characterized by well-developed gland formation intimately admixed with solid nests of squamous cells immersed in a highly cellular spindle cell stroma.
http://purl.obolibrary.org/obo/DOID_5624	adenosquamous bile duct carcinoma	http://purl.obolibrary.org/obo/DOID_4606	bile duct cancer		A bile duct carcinoma that derives_from squamous cells and gland-like cells.
http://purl.obolibrary.org/obo/DOID_5625	esophageal adenosquamous carcinoma	http://purl.obolibrary.org/obo/DOID_5041	esophageal cancer		An esophageal carcinoma that derives_from squamous cells and gland-like cells.
http://purl.obolibrary.org/obo/DOID_5626	thymus adenosquamous carcinoma	http://purl.obolibrary.org/obo/DOID_3277	thymus cancer		A thymic carcinoma that derives_from squamous cells and gland-like cells.
http://purl.obolibrary.org/obo/DOID_5627	adenosquamous gallbladder carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A gallbladder carcinoma that derives_from squamous cells and gland-like cells.
http://purl.obolibrary.org/obo/DOID_5628	ampulla of Vater adenosquamous carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		An ampulla of Vater carcinoma that derives_from squamous cells and gland-like cells.
http://purl.obolibrary.org/obo/DOID_5629	adenosquamous colon carcinoma	http://purl.obolibrary.org/obo/DOID_219	colon cancer		A colon carcinoma that derives_from squamous cells and gland-like cells.
http://purl.obolibrary.org/obo/DOID_5630	Bartholin's gland adenosquamous carcinoma	http://purl.obolibrary.org/obo/DOID_3999	Bartholin's gland carcinoma		A Bartholin's gland carcinoma that derives_from squamous cells and gland-like cells.
http://purl.obolibrary.org/obo/DOID_5631	endometrial adenosquamous carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		An endometrial carcinoma that derives_from squamous cells and gland-like cells.
http://purl.obolibrary.org/obo/DOID_5634	adenosquamous prostate carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A prostate carcinoma that derives_from squamous cells and gland-like cells.
http://purl.obolibrary.org/obo/DOID_5636	cervical adenosquamous carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A cervical carcinoma that derives_from squamous cells and gland-like cells.
http://purl.obolibrary.org/obo/DOID_5637	pancreatic adenosquamous carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A pancreatic ductal carcinoma that derives_from squamous cells and gland-like cells.
http://purl.obolibrary.org/obo/DOID_5641	diffuse pulmonary fibrosis	http://purl.obolibrary.org/obo/DOID_3770	pulmonary fibrosis		A pulmonary fibrosis that is characterized by diffuse destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation.
http://purl.obolibrary.org/obo/DOID_5642	localized pulmonary fibrosis	http://purl.obolibrary.org/obo/DOID_3770	pulmonary fibrosis		A pulmonary fibrosis that is characterized by localized destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation.
http://purl.obolibrary.org/obo/DOID_5648	choroid plexus carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A choroid plexus cancer that has_material_basis_in epithelial cells of the choroid plexus.
http://purl.obolibrary.org/obo/DOID_5655	chiasmal syndrome	http://purl.obolibrary.org/obo/DOID_1891	optic nerve disease		An optic nerve disease that is characterized by lesions of the optic chiasm, manifesting as various impairments of the sufferer's visual field according to the location of the lesion along the optic nerve.
http://purl.obolibrary.org/obo/DOID_5658	lipid-rich carcinoma	http://purl.obolibrary.org/obo/DOID_3459	breast carcinoma		A breast carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids.
http://purl.obolibrary.org/obo/DOID_5660	lymphoepithelioma-like carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A carcinoma that is a malignant epithelial neoplasm densely infiltrated by lymphoid cells.
http://purl.obolibrary.org/obo/DOID_5662	pleomorphic carcinoma	http://purl.obolibrary.org/obo/DOID_4015	sarcomatoid carcinoma		A sarcomatoid carcinoma that is consisting of spindle or giant cells (or both) combined with squamous cell carcinoma, adenocarcinoma, or large-cell carcinoma.
http://purl.obolibrary.org/obo/DOID_5665	external ear cancer	http://purl.obolibrary.org/obo/DOID_5101	ear cancer		An ear cancer that is located_in the external ear.
http://purl.obolibrary.org/obo/DOID_5670	comedo carcinoma	http://purl.obolibrary.org/obo/DOID_0060074	ductal carcinoma in situ		A ductal carcinoma in situ that is characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells.
http://purl.obolibrary.org/obo/DOID_5675	cribriform carcinoma	http://purl.obolibrary.org/obo/DOID_3459	breast carcinoma		A breast carcinoma that is characterized by an irregular cribriform growth pattern, nuclear grade I in at least 90% of cells, and absent myoepithelial cells.
http://purl.obolibrary.org/obo/DOID_5677	malignant extragonadal nonseminomatous germ cell tumor	http://purl.obolibrary.org/obo/DOID_1319	brain cancer		An extragonadal germ cell cancer that are located_in the pineal gland in the brain, located_in the mediastinum or located_in the abdomen.
http://purl.obolibrary.org/obo/DOID_5680	embryonal testis carcinoma	http://purl.obolibrary.org/obo/DOID_2998	testicular cancer		An embryonal carcinoma that is located_in the testis.
http://purl.obolibrary.org/obo/DOID_5681	ovarian embryonal carcinoma	http://purl.obolibrary.org/obo/DOID_2394	ovarian cancer		An embryonal carcinoma that is located_in the ovary.
http://purl.obolibrary.org/obo/DOID_5683	hereditary breast ovarian cancer syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by the higher than normal tendency associated with BRCA1 and BRCA2 to develop breast and ovarian cancers in genetically related families.
http://purl.obolibrary.org/obo/DOID_5684	spondyloepimetaphyseal dysplasia, Sponastrime type	http://purl.obolibrary.org/obo/DOID_0080027	spondyloepimetaphyseal dysplasia		A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance.
http://purl.obolibrary.org/obo/DOID_5688	Werner syndrome	http://purl.obolibrary.org/obo/DOID_0081332	progeroid syndrome		A progeroid syndrome characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers and that has_material_basis_in mutations in the WRN gene, on chromosome 8.
http://purl.obolibrary.org/obo/DOID_5690	well-differentiated liposarcoma	http://purl.obolibrary.org/obo/DOID_3382	liposarcoma		A liposarcoma that is characterized as a slow growing, painless tumor usually located in the retroperitoneum or the limbs and derives_from proliferating mature adipocytes.
http://purl.obolibrary.org/obo/DOID_5692	cellular myxoid liposarcoma	http://purl.obolibrary.org/obo/DOID_3382	liposarcoma		A liposarcoma characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma.
http://purl.obolibrary.org/obo/DOID_5696	larynx liposarcoma	http://purl.obolibrary.org/obo/DOID_2596	larynx cancer		A liposarcoma that is located_in the larynx.
http://purl.obolibrary.org/obo/DOID_5697	liposarcoma of the ovary	http://purl.obolibrary.org/obo/DOID_2394	ovarian cancer		An ovary sarcoma that arises from fatty tissue.
http://purl.obolibrary.org/obo/DOID_5699	kidney liposarcoma	http://purl.obolibrary.org/obo/DOID_3382	liposarcoma		A liposarcoma that is located_in the kidney.
http://purl.obolibrary.org/obo/DOID_57	aortic valve insufficiency	http://purl.obolibrary.org/obo/DOID_62	aortic valve disease		An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle.
http://purl.obolibrary.org/obo/DOID_5701	breast liposarcoma	http://purl.obolibrary.org/obo/DOID_3017	breast sarcoma		A breast sarcoma that arises from fat cells.
http://purl.obolibrary.org/obo/DOID_5703	mixed liposarcoma	http://purl.obolibrary.org/obo/DOID_3382	liposarcoma		A liposarcoma characterized by the presence of a combination of liposarcomatous morphologic subtypes: myxoid/round cell and well differentiated/dedifferentiated liposarcoma or myxoid/round cell and pleomorphic liposarcoma.
http://purl.obolibrary.org/obo/DOID_5711	vulvar liposarcoma	http://purl.obolibrary.org/obo/DOID_1245	vulva cancer		A vulvar sarcoma that has_material_basis_in adipocytes.
http://purl.obolibrary.org/obo/DOID_5713	mediastinum liposarcoma	http://purl.obolibrary.org/obo/DOID_3382	liposarcoma		A liposarcoma that is located_in the mediastinum.
http://purl.obolibrary.org/obo/DOID_5718	adrenal neuroblastoma	http://purl.obolibrary.org/obo/DOID_3953	adrenal gland cancer		An adrenal gland cancer that derives_from immature neuroblastic cells.
http://purl.obolibrary.org/obo/DOID_5724	seminal vesicle cystadenoma	http://purl.obolibrary.org/obo/DOID_0060084	cell type benign neoplasm		A seminal vesicle tumor that derives_from glandular epithelial cells and that is located_in the seminal vesicle.
http://purl.obolibrary.org/obo/DOID_5725	rete ovarii cystadenoma	http://purl.obolibrary.org/obo/DOID_6837	rete ovarii adenoma		A rete ovarii adenoma that is characterized by the presence of cysts and/or cystic spaces.
http://purl.obolibrary.org/obo/DOID_5726	uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease	http://purl.obolibrary.org/obo/DOID_0060095	uterine benign neoplasm		A uterine benign neoplasm that is located_in the uterine ligament and has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed and is characterized by the formation of fingerlike projections.
http://purl.obolibrary.org/obo/DOID_5727	uterine ligament cancer	http://purl.obolibrary.org/obo/DOID_363	uterine cancer		A uterine cancer that is located_in the ligaments that support the uterus.
http://purl.obolibrary.org/obo/DOID_5728	diffuse peritoneal leiomyomatosis	http://purl.obolibrary.org/obo/DOID_127	leiomyoma		A peritoneal benign neoplasm that is located throughout the peritoneum and derives_from smooth muscle.
http://purl.obolibrary.org/obo/DOID_5729	intravenous leiomyomatosis	http://purl.obolibrary.org/obo/DOID_178	vascular disease		A leiomyomatosis that is located within the blood vessels.
http://purl.obolibrary.org/obo/DOID_5730	salpingitis isthmica nodosa	http://purl.obolibrary.org/obo/DOID_5731	chronic salpingitis		A chronic salpingitis that is caused by is nodular thickening of the narrow part of the uterine tube, due to inflammation.
http://purl.obolibrary.org/obo/DOID_5742	pancreatic acinar cell adenocarcinoma	http://purl.obolibrary.org/obo/DOID_4074	pancreatic adenocarcinoma		A pancreatic adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase.
http://purl.obolibrary.org/obo/DOID_5743	acinic cell breast carcinoma	http://purl.obolibrary.org/obo/DOID_3458	breast adenocarcinoma		A breast adenocarcinoma that is characterized by widespread acinar cell-like differentiation.
http://purl.obolibrary.org/obo/DOID_5744	ovary serous adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3713	ovary adenocarcinoma		An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity).
http://purl.obolibrary.org/obo/DOID_5746	ovarian serous cystadenocarcinoma	http://purl.obolibrary.org/obo/DOID_3605	ovarian cystadenocarcinoma		An ovary serous adenocarcinoma that has_material_basis_in glandular epithelium, in which cystic accumulations of retained secretions are formed.
http://purl.obolibrary.org/obo/DOID_5747	uterine ligament serous adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3700	uterine ligament adenocarcinoma		A uterine ligament adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.
http://purl.obolibrary.org/obo/DOID_5750	endometrial serous adenocarcinoma	http://purl.obolibrary.org/obo/DOID_9460	uterine corpus cancer		A uterine corpus cancer that is characterized histologically by papillae with fibrovascular cores, marked nuclear atypia, psammoma bodies and cilia.
http://purl.obolibrary.org/obo/DOID_5751	pancreatic serous cystadenocarcinoma	http://purl.obolibrary.org/obo/DOID_4073	pancreatic cystadenocarcinoma		A serous cystadenocarcinoma that is located_in the pancreas.
http://purl.obolibrary.org/obo/DOID_5752	cervical serous adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3702	cervical adenocarcinoma		A cervical adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.
http://purl.obolibrary.org/obo/DOID_5757	endocervicitis	http://purl.obolibrary.org/obo/DOID_2568	cervicitis		A cervicitis that is located_in the endocervix.
http://purl.obolibrary.org/obo/DOID_576	proteinuria	http://purl.obolibrary.org/obo/DOID_557	kidney disease		A kidney disease that is characterized by the presence of excess proteins in the urine.
http://purl.obolibrary.org/obo/DOID_5760	sebaceous breast carcinoma	http://purl.obolibrary.org/obo/DOID_3459	breast carcinoma		A breast carcinoma that is characterized by a lobular or nested growth pattern of tumor cells variably admixed with cells displaying sebaceous differentiation. It is a distinct variant of invasive ductal carcinoma.
http://purl.obolibrary.org/obo/DOID_5761	vulvar sebaceous carcinoma	http://purl.obolibrary.org/obo/DOID_1294	vulva carcinoma		A vulva carcinoma that is characterized by the presence of sebaceous secretions.
http://purl.obolibrary.org/obo/DOID_5768	Nager acrofacial dysostosis	http://purl.obolibrary.org/obo/DOID_0060379	acrofacial dysostosis		An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children.
http://purl.obolibrary.org/obo/DOID_5773	oral submucous fibrosis	http://purl.obolibrary.org/obo/DOID_403	mouth disease		A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues.
http://purl.obolibrary.org/obo/DOID_580	uric acid nephrolithiasis	http://purl.obolibrary.org/obo/DOID_585	nephrolithiasis		A nephrolithiasis that is characterized by stones composed predominantly uric acid.
http://purl.obolibrary.org/obo/DOID_5805	subvalvular aortic stenosis	http://purl.obolibrary.org/obo/DOID_1712	aortic valve stenosis		An aortic valve stenosis that is characterized by a narrowing of the section of the heart under the aortic valve resulting in left ventricular outflow obstruction.
http://purl.obolibrary.org/obo/DOID_5810	adenosine deaminase deficiency	http://purl.obolibrary.org/obo/DOID_627	severe combined immunodeficiency		A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP.
http://purl.obolibrary.org/obo/DOID_5812	MHC class II deficiency	http://purl.obolibrary.org/obo/DOID_627	severe combined immunodeficiency		A severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has_material_basis_in autosomal recessive inheritance of mutation in the CIITA, RFX5, RFXANK, and RFXAP genes.
http://purl.obolibrary.org/obo/DOID_5813	purine nucleoside phosphorylase deficiency	http://purl.obolibrary.org/obo/DOID_628	combined T cell and B cell immunodeficiency		A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has_material_basis_in mutation in the PNP gene and characterized mainly by decreased T-cell function.
http://purl.obolibrary.org/obo/DOID_5815	cerebral lymphoma	http://purl.obolibrary.org/obo/DOID_5772	central nervous system hematologic cancer		A cerebrum cancer that affects the lymph cells and derives_from the brain.
http://purl.obolibrary.org/obo/DOID_5820	composite lymphoma	http://purl.obolibrary.org/obo/DOID_707	B-cell lymphoma		A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time.
http://purl.obolibrary.org/obo/DOID_5822	gray zone lymphoma	http://purl.obolibrary.org/obo/DOID_0060058	lymphoma		A lymphoma that is characterized by having cellular features of both classic Hodgkin's lymphomas and large B-cell Lymphomas.
http://purl.obolibrary.org/obo/DOID_5826	breast lymphoma	http://purl.obolibrary.org/obo/DOID_1612	breast cancer		A breast cancer that arises_from lymphocytes.
http://purl.obolibrary.org/obo/DOID_5828	endometrioid ovary carcinoma	http://purl.obolibrary.org/obo/DOID_3713	ovary adenocarcinoma		An ovary adenocarcinoma that has_material_basis_in endometrial tissue.
http://purl.obolibrary.org/obo/DOID_5829	uterine ligament endometrioid adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3700	uterine ligament adenocarcinoma		A uterine ligament adenocarcinoma that derives_from endometrial epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_5830	cervical endometrioid adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3702	cervical adenocarcinoma		A cervical adenocarcinoma that derives_from endometrial epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_5831	fallopian tube endometrioid adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3706	fallopian tube adenocarcinoma		A fallopian tube adenocarcinoma that derives_from endometrial epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_5844	myocardial infarction	http://purl.obolibrary.org/obo/DOID_3393	coronary artery disease		A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.
http://purl.obolibrary.org/obo/DOID_585	nephrolithiasis	http://purl.obolibrary.org/obo/DOID_557	kidney disease		A kidney disease characterized by the formation of stoney concentrations in the kidneys.
http://purl.obolibrary.org/obo/DOID_5870	eosinophilic pneumonia	http://purl.obolibrary.org/obo/DOID_552	pneumonia		A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night.
http://purl.obolibrary.org/obo/DOID_5895	clear cell cystadenofibroma	http://purl.obolibrary.org/obo/DOID_5482	cystadenofibroma		A cystadenofibroma that is characterized by the presence of cells with clear cytoplasm.
http://purl.obolibrary.org/obo/DOID_5896	ovarian clear cell cystadenofibroma	http://purl.obolibrary.org/obo/DOID_5897	ovarian clear cell adenofibroma		An ovarian clear cell adenofibroma that is characterized by the presence of cysts and/or cystic spaces.
http://purl.obolibrary.org/obo/DOID_5897	ovarian clear cell adenofibroma	http://purl.obolibrary.org/obo/DOID_0060112	ovarian benign neoplasm		An ovarian benign neoplasm that is characterized by the presence of serous fluid and has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.
http://purl.obolibrary.org/obo/DOID_5900	meningeal melanocytoma	http://purl.obolibrary.org/obo/DOID_0060090	central nervous system benign neoplasm		A central nervous system benign neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges.
http://purl.obolibrary.org/obo/DOID_5914	diffuse sclerosing papillary thyroid carcinoma	http://purl.obolibrary.org/obo/DOID_3969	papillary thyroid carcinoma		A papillary thyroid carcinoma that is characterized by diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration.
http://purl.obolibrary.org/obo/DOID_5915	uterus intravascular leiomyomatosis	http://purl.obolibrary.org/obo/DOID_5916	uterine corpus leiomyomatosis		An uterine corpus leiomyomatosis that is located_in the blood vessels.
http://purl.obolibrary.org/obo/DOID_5916	uterine corpus leiomyomatosis	http://purl.obolibrary.org/obo/DOID_127	leiomyoma		An uterine benign neoplasm that is characterized by the presence of multiple tumors composed of smooth muscle cells.
http://purl.obolibrary.org/obo/DOID_5917	uterine corpus diffuse leiomyomatosis	http://purl.obolibrary.org/obo/DOID_5916	uterine corpus leiomyomatosis		An uterine corpus leiomyomatosis that is located throughout the uterine corpus.
http://purl.obolibrary.org/obo/DOID_593	agoraphobia	http://purl.obolibrary.org/obo/DOID_591	phobic disorder		A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable.
http://purl.obolibrary.org/obo/DOID_5936	ovarian mixed germ cell neoplasm	http://purl.obolibrary.org/obo/DOID_5351	ovarian primitive germ cell tumor		An ovarian primitive germ cell tumor that is characterized by the presence of two or more types of malignant, primitive, germ cell components.
http://purl.obolibrary.org/obo/DOID_594	panic disorder	http://purl.obolibrary.org/obo/DOID_2030	anxiety disorder		An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress.
http://purl.obolibrary.org/obo/DOID_5973	kidney pelvis papillary carcinoma	http://purl.obolibrary.org/obo/DOID_5974	renal pelvis transitional cell carcinoma		A papillary carcinoma that is located_in the kidney pelvis.
http://purl.obolibrary.org/obo/DOID_5983	kidney osteogenic sarcoma	http://purl.obolibrary.org/obo/DOID_4242	kidney sarcoma		A kidney sarcoma that starts in the bones and that is located in the kidney.
http://purl.obolibrary.org/obo/DOID_5998	microglandular adenosis	http://purl.obolibrary.org/obo/DOID_3463	breast disease		A breast disease that is characterized by a haphazard infiltration of small, uniformly open, and round glands which are lined by a monolayer of flat to cuboidal epithelial cells that lack a myoepithelial layer, the absence of stromal desmoplasia and the presence of a thickened basement membrane.
http://purl.obolibrary.org/obo/DOID_5999	apocrine adenosis of breast	http://purl.obolibrary.org/obo/DOID_5997	non-proliferative fibrocystic change of the breast		A non-proliferative fibrocystic change of the breast that is characterized by sclerosing adenosis with apocrine change.
http://purl.obolibrary.org/obo/DOID_600	animal phobia	http://purl.obolibrary.org/obo/DOID_599	specific phobia		A specific phobia that involves a fear caused by the presence or thought of a specific animal that poses little or no danger at all.
http://purl.obolibrary.org/obo/DOID_6001	breast fibrosarcoma	http://purl.obolibrary.org/obo/DOID_3017	breast sarcoma		A breast sarcoma that arises from fibrous connective tissue and is characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern.
http://purl.obolibrary.org/obo/DOID_6003	aleukemic leukemia cutis	http://purl.obolibrary.org/obo/DOID_6004	aleukemic leukemia		An aleukemic leukemia that is characterized by the infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood.
http://purl.obolibrary.org/obo/DOID_6004	aleukemic leukemia	http://purl.obolibrary.org/obo/DOID_1240	leukemia		A leukemia that arises from changes in the tissues forming white blood cells and characterized by the absence of leukemic cells in the peripheral blood.
http://purl.obolibrary.org/obo/DOID_6017	central nervous system mature teratoma	http://purl.obolibrary.org/obo/DOID_3640	central nervous system teratoma		A mature teratoma that is located_in the central nervous system.
http://purl.obolibrary.org/obo/DOID_6019	central nervous system immature teratoma	http://purl.obolibrary.org/obo/DOID_3640	central nervous system teratoma		A malignant teratoma that is located_in the central nervous system.
http://purl.obolibrary.org/obo/DOID_6024	selective IgE deficiency disease	http://purl.obolibrary.org/obo/DOID_11702	dysgammaglobulinemia		A dysgammaglobulinemia that is characterized by isolated deficiency of IgE and subsequent mildly increased susceptibility to parasitic infections and allergic or autoimmune-related diseases.
http://purl.obolibrary.org/obo/DOID_6034	heart malignant hemangiopericytoma	http://purl.obolibrary.org/obo/DOID_5262	heart sarcoma		A heart sarcoma that is a soft tissue sarcoma located in the heart.
http://purl.obolibrary.org/obo/DOID_6037	spindle cell intraocular melanoma	http://purl.obolibrary.org/obo/DOID_1752	ocular melanoma		An ocular malanoma that derives_from melanocytes in the uveal tract that results_in_formation_of spindle-shaped cells.
http://purl.obolibrary.org/obo/DOID_6039	uveal melanoma	http://purl.obolibrary.org/obo/DOID_3479	uveal cancer		A uveal cancer that has_material_basis_in uvea pigment cells.
http://purl.obolibrary.org/obo/DOID_6041	choroid spindle cell melanoma	http://purl.obolibrary.org/obo/DOID_1909	melanoma		A malignant choroid melanoma that is located_in the choroid.
http://purl.obolibrary.org/obo/DOID_6043	ciliary body spindle cell melanoma	http://purl.obolibrary.org/obo/DOID_1909	melanoma		A ciliary body cancer that is located_in the ciliary body and composed of spindled neoplastic cells arranged in sheets and fascicles.
http://purl.obolibrary.org/obo/DOID_605	flying phobia	http://purl.obolibrary.org/obo/DOID_599	specific phobia		A specific phobia that is characterized by a fear of flying.
http://purl.obolibrary.org/obo/DOID_6053	childhood germ cell cancer	http://purl.obolibrary.org/obo/DOID_2994	germ cell cancer		A germ cell cancer that presents in childhood.
http://purl.obolibrary.org/obo/DOID_6067	ovarian mucinous neoplasm	http://purl.obolibrary.org/obo/DOID_2152	ovary epithelial cancer		An ovary epithelial cancer that is characterized by the presence of mucin.
http://purl.obolibrary.org/obo/DOID_6083	childhood ovarian endodermal sinus tumor	http://purl.obolibrary.org/obo/DOID_5350	ovarian endodermal sinus tumor		An ovarian endodermal sinus tumor that presents in childhood.
http://purl.obolibrary.org/obo/DOID_6084	childhood ovarian germ cell tumor	http://purl.obolibrary.org/obo/DOID_2156	ovarian germ cell cancer		An ovarian germ cell cancer that presents in childhood.
http://purl.obolibrary.org/obo/DOID_6088	acute stress disorder	http://purl.obolibrary.org/obo/DOID_2030	anxiety disorder		An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or ASD.
http://purl.obolibrary.org/obo/DOID_6101	signet ring cell variant cervical mucinous adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3701	cervical mucinous adenocarcinoma		A cervical mucinous adenocarcinoma that is characterized by the presence of signet ring cells.
http://purl.obolibrary.org/obo/DOID_6102	herpetic gastritis	http://purl.obolibrary.org/obo/DOID_2327	viral gastritis		A viral gastritis that involves inflammation of the stomach lining caused by herpes simplex virus (Simplexvirus humanalpha1 or Simplexvirus humanalpha2).
http://purl.obolibrary.org/obo/DOID_6126	anal canal carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		An anal canal cancer that derives_from epithelial cells.
http://purl.obolibrary.org/obo/DOID_6128	gliomatosis cerebri	http://purl.obolibrary.org/obo/DOID_1319	brain cancer		A brain cancer that is characterized by a pattern of diffuse infiltration of the brain that affect various areas of the cerebral lobes and has_material_basis_in abnormally proliferating cells, derives_from glial cells.
http://purl.obolibrary.org/obo/DOID_6132	bronchitis	http://purl.obolibrary.org/obo/DOID_1176	bronchial disease		A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness.
http://purl.obolibrary.org/obo/DOID_6139	uterine corpus epithelioid leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_5289	uterus leiomyosarcoma		A uterus leiomyosarcoma characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm.
http://purl.obolibrary.org/obo/DOID_614	lymphopenia	http://purl.obolibrary.org/obo/DOID_615	leukopenia		A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood.
http://purl.obolibrary.org/obo/DOID_6148	nasal cavity carcinoma in situ	http://purl.obolibrary.org/obo/DOID_8719	in situ carcinoma		An in situ carcinoma that is located_in the nasal cavity.
http://purl.obolibrary.org/obo/DOID_6160	childhood choriocarcinoma of the testis	http://purl.obolibrary.org/obo/DOID_5551	choriocarcinoma of the testis		A choriocarcinoma of the testis that is present during childhood.
http://purl.obolibrary.org/obo/DOID_6162	childhood embryonal testis carcinoma	http://purl.obolibrary.org/obo/DOID_5680	embryonal testis carcinoma		An embryonal testis carcinoma that occurs in children.
http://purl.obolibrary.org/obo/DOID_6166	prostatic urethra urothelial carcinoma	http://purl.obolibrary.org/obo/DOID_6167	prostatic urethral cancer		A prostatic urethral cancer that derives_from the urothelial lining of the prostatic urethra.
http://purl.obolibrary.org/obo/DOID_6167	prostatic urethral cancer	http://purl.obolibrary.org/obo/DOID_736	male urethral cancer		A male urethral cancer that derives_from the prostatic urethra.
http://purl.obolibrary.org/obo/DOID_6170	ovarian carcinosarcoma	http://purl.obolibrary.org/obo/DOID_2151	malignant ovarian surface epithelial-stromal neoplasm		A malignant ovarian surface epithelial-stromal neoplasm that is a mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.
http://purl.obolibrary.org/obo/DOID_6171	uterine carcinosarcoma	http://purl.obolibrary.org/obo/DOID_4114	uterine body mixed cancer		A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma.
http://purl.obolibrary.org/obo/DOID_6175	mediastinal neurilemmoma	http://purl.obolibrary.org/obo/DOID_956	peripheral nerve schwannoma		A neurilemmoma located_in the mediastinum.
http://purl.obolibrary.org/obo/DOID_6179	ovarian small cell carcinoma	http://purl.obolibrary.org/obo/DOID_4001	ovarian carcinoma		An ovarian carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.
http://purl.obolibrary.org/obo/DOID_6190	rectum Kaposi's sarcoma	http://purl.obolibrary.org/obo/DOID_1995	rectum sarcoma		A sarcoma of the rectum that results_in lesions that are located_in the rectum.
http://purl.obolibrary.org/obo/DOID_6193	epithelioid sarcoma	http://purl.obolibrary.org/obo/DOID_201	connective tissue cancer		A connective tissue cancer that is characterized by the presence of epithelioid cells forming nodular patterns and has_material_basis_in mesenchymal tissue.
http://purl.obolibrary.org/obo/DOID_6196	reactive arthritis	http://purl.obolibrary.org/obo/DOID_848	arthritis		An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body.
http://purl.obolibrary.org/obo/DOID_6209	malignant mediastinum hemangiopericytoma	http://purl.obolibrary.org/obo/DOID_264	hemangiopericytoma		A hemangiopericytoma and sarcoma of the mediastinum that is located_in the mediastinum.
http://purl.obolibrary.org/obo/DOID_6211	mixed epithelial tumor of ovary	http://purl.obolibrary.org/obo/DOID_0060112	ovarian benign neoplasm		An ovarian benign neoplasm that is biphasic and has_material_basis_in epithelial and mesenchymal elements.
http://purl.obolibrary.org/obo/DOID_6212	ovarian endometrial cancer	http://purl.obolibrary.org/obo/DOID_3001	female reproductive endometrioid cancer		An ovary epithelial cancer that has_material_basis_in the endometrium and is located_in the ovary.
http://purl.obolibrary.org/obo/DOID_6214	ovarian papillary neoplasm	http://purl.obolibrary.org/obo/DOID_2152	ovary epithelial cancer		An ovary epithelial cancer that is characterized by the presence of finger-like projections on histology.
http://purl.obolibrary.org/obo/DOID_6217	gastric diffuse adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3717	gastric adenocarcinoma		A gastric adenocarcinoma that is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma.
http://purl.obolibrary.org/obo/DOID_6225	Cronkhite-Canada syndrome	http://purl.obolibrary.org/obo/DOID_76	stomach disease		A stomach disease characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, skin hyperpigmentation, and diarrhea.
http://purl.obolibrary.org/obo/DOID_6229	childhood mature teratoma of the ovary	http://purl.obolibrary.org/obo/DOID_6231	mature teratoma of the ovary		A mature teratoma of the ovary that presents in childhood.
http://purl.obolibrary.org/obo/DOID_6230	childhood teratoma of the ovary	http://purl.obolibrary.org/obo/DOID_5567	ovarian germ cell teratoma		An ovarian germ cell teratoma that presents in childhood.
http://purl.obolibrary.org/obo/DOID_6231	mature teratoma of the ovary	http://purl.obolibrary.org/obo/DOID_6232	ovarian biphasic or triphasic teratoma		An ovarian biphasic or triphasic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm).
http://purl.obolibrary.org/obo/DOID_6232	ovarian biphasic or triphasic teratoma	http://purl.obolibrary.org/obo/DOID_5567	ovarian germ cell teratoma		An ovarian germ cell teratoma that is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm.
http://purl.obolibrary.org/obo/DOID_6262	follicular dendritic cell sarcoma	http://purl.obolibrary.org/obo/DOID_9500	leukocyte disease		A dendritic cell sarcoma cancer that effects the follicular dendritic cells.
http://purl.obolibrary.org/obo/DOID_6263	inflammatory breast carcinoma	http://purl.obolibrary.org/obo/DOID_3458	breast adenocarcinoma		A breast adenocarcinoma that is characterized by the clinical appearance of inflammation, with edema and redness of the breast due to pathologic plugging of the dermal lymphatics of the breast with tumor emboli.
http://purl.obolibrary.org/obo/DOID_6278	ovarian mucinous malignant adenofibroma	http://purl.obolibrary.org/obo/DOID_6067	ovarian mucinous neoplasm		An ovarian mucinous neoplasm that is cancerous and that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.
http://purl.obolibrary.org/obo/DOID_6284	epicardium lipoma	http://purl.obolibrary.org/obo/DOID_6285	heart lipoma		A heart lipoma that is located_in the epicardium and derives_from fat cells.
http://purl.obolibrary.org/obo/DOID_6312	clivus chordoma	http://purl.obolibrary.org/obo/DOID_4151	skull base chordoma		A chordoma of skull base that is located in the clivus.
http://purl.obolibrary.org/obo/DOID_6313	clivus chondroid chordoma	http://purl.obolibrary.org/obo/DOID_6312	clivus chordoma		A chondroid chordoma and chordoma of the clivus that is located_in the clivus.
http://purl.obolibrary.org/obo/DOID_6314	ovarian fetiform teratoma	http://purl.obolibrary.org/obo/DOID_6231	mature teratoma of the ovary		A mature teratoma of the ovary that resembles a malformed human fetus with the caudal portion being more developed.
http://purl.obolibrary.org/obo/DOID_6315	ovarian solid teratoma	http://purl.obolibrary.org/obo/DOID_6231	mature teratoma of the ovary		A mature teratoma of the ovary that is predominantly solid with interspersed cysts.
http://purl.obolibrary.org/obo/DOID_6316	Bartholin's gland adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		A Bartholin's gland carcinoma that derives_from epithelial cells originating in glandular tissue.
http://purl.obolibrary.org/obo/DOID_6322	tibial adamantinoma	http://purl.obolibrary.org/obo/DOID_2775	long bone adamantinoma		An adamantinoma of long bone that is located_in the tibia.
http://purl.obolibrary.org/obo/DOID_6331	immature teratoma of ovary	http://purl.obolibrary.org/obo/DOID_2155	malignant ovarian germ cell neoplasm		A malignant ovarian germ cell neoplasm that is a teratoma containing variable amounts of immature (typically primitive/embryonal neuroectodermal) tissues, including, in its most primitive forms, embryoid bodies.
http://purl.obolibrary.org/obo/DOID_6339	vulvar eccrine adenocarcinoma	http://purl.obolibrary.org/obo/DOID_2098	vulva adenocarcinoma		A vulva adenocarcinoma that has_material_basis_in eccrine glands.
http://purl.obolibrary.org/obo/DOID_635	acquired immunodeficiency syndrome	http://purl.obolibrary.org/obo/DOID_526	human immunodeficiency virus infectious disease		A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.
http://purl.obolibrary.org/obo/DOID_6354	chronic lymphocytic leukemia/small lymphocytic lymphoma	http://purl.obolibrary.org/obo/DOID_1040	chronic lymphocytic leukemia		A chronic lymphocytic leukemia that is characterized by the presence of immature lymphocytes in the blood and bone marrow and/or in the lymph nodes.
http://purl.obolibrary.org/obo/DOID_636	central pontine myelinolysis	http://purl.obolibrary.org/obo/DOID_3213	demyelinating disease		A demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has_symptom acute paralysis, has_symptom dysphagia, and has_symptom dysarthria.
http://purl.obolibrary.org/obo/DOID_6367	acral lentiginous melanoma	http://purl.obolibrary.org/obo/DOID_8923	skin melanoma		A skin melanoma that is characterized by slow growth of a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin and occurs on occurs on non hair-bairing surfaces including hands and feet, subungual sites, and fingers or toes.
http://purl.obolibrary.org/obo/DOID_6379	diffuse meningeal melanocytosis	http://purl.obolibrary.org/obo/DOID_4955	central nervous system melanocytic neoplasm		A central nervous system melanocytic neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges.
http://purl.obolibrary.org/obo/DOID_6405	ovarian papillary cystadenoma	http://purl.obolibrary.org/obo/DOID_6214	ovarian papillary neoplasm		An ovarian cystadenoma that is characterized by the presence of finger-like projections.
http://purl.obolibrary.org/obo/DOID_6407	ovarian surface papilloma	http://purl.obolibrary.org/obo/DOID_6214	ovarian papillary neoplasm		An ovarian papillary neoplasm that is an exophytic growth with bland, serous-type epitheliumon the surface of the ovary.
http://purl.obolibrary.org/obo/DOID_6408	ovary papillary carcinoma	http://purl.obolibrary.org/obo/DOID_4001	ovarian carcinoma		An ovarian carcinoma that has_material_basis_in abnormally proliferating cells and derives_from epithelial cells.
http://purl.obolibrary.org/obo/DOID_6428	cervical adenoid basal carcinoma	http://purl.obolibrary.org/obo/DOID_2893	cervix carcinoma		A cervix carcinoma that has_material_basis_in epithelium and is characterized by the presence of small, well differentiated, rounded nests of basaloid cells.
http://purl.obolibrary.org/obo/DOID_643	progressive multifocal leukoencephalopathy	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that involves reactivation of JC polyomavirus (Betapolyomavirus secuhominis) in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma.
http://purl.obolibrary.org/obo/DOID_6448	vulvar apocrine adenocarcinoma	http://purl.obolibrary.org/obo/DOID_2098	vulva adenocarcinoma		A vulva adenocarcinoma that has_material_basis_in apocrine glands.
http://purl.obolibrary.org/obo/DOID_6457	Cowden syndrome	http://purl.obolibrary.org/obo/DOID_0070656	hamartoma syndrome		A hamartoma syndrome characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium.
http://purl.obolibrary.org/obo/DOID_6458	cerebellar liponeurocytoma	http://purl.obolibrary.org/obo/DOID_4205	cerebellum cancer		A cerebellum cancer that is characterized by consistent neuronal, variable astrocytic and focal lipomatous differentiation.
http://purl.obolibrary.org/obo/DOID_6459	rectal lipoma	http://purl.obolibrary.org/obo/DOID_3315	lipoma		A rectal benign neoplasm that has_material_basis_in fat tissue.
http://purl.obolibrary.org/obo/DOID_6468	mucinous cystadenofibroma	http://purl.obolibrary.org/obo/DOID_5482	cystadenofibroma		A cystadenofibroma that is characterized by the presence of mucin.
http://purl.obolibrary.org/obo/DOID_6469	ovarian mucinous adenofibroma	http://purl.obolibrary.org/obo/DOID_0060112	ovarian benign neoplasm		An ovarian benign neoplasm that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.
http://purl.obolibrary.org/obo/DOID_6483	rete testis adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		A male reproductive organ benign neoplasm that derives from epithelial tissue in which tumor cells form glands or glandlike structures and that is located_in the rete testis.
http://purl.obolibrary.org/obo/DOID_6491	breast capillary hemangioma	http://purl.obolibrary.org/obo/DOID_476	breast hemangioma		A breast hemangioma that is characterized by capillary-sized vessels.
http://purl.obolibrary.org/obo/DOID_6492	breast epithelioid hemangioma	http://purl.obolibrary.org/obo/DOID_476	breast hemangioma		A breast hemangioma that is characterized by islands and cords on hyalinized and myxoid ground substance as well as intracytoplasmic vacuoles that contain typical erythrocytes and are characterized by fusiform or round nucleated cells.
http://purl.obolibrary.org/obo/DOID_6501	brain stem angioblastoma	http://purl.obolibrary.org/obo/DOID_4203	brain stem cancer		A brain stem cancer that is characterized by slow growing, highly vascular tumors that develops from the vascular system, has_material_basis_in abnormally proliferating cells derives_from endothelial cells, pericytes and stromal cells.
http://purl.obolibrary.org/obo/DOID_6505	vaginal spindle cell epithelioma	http://purl.obolibrary.org/obo/DOID_135	benign vaginal carcinosarcoma		A benign vaginal carcinosarcoma that has_material_basis_in epithelial cells of the remnants of the vestibular gland and is located_in vagina.
http://purl.obolibrary.org/obo/DOID_6511	glandular pattern ovarian yolk sac tumor	http://purl.obolibrary.org/obo/DOID_5350	ovarian endodermal sinus tumor		An ovarian endodermal sinus tumor that is characterized by a glandular pattern on histology.
http://purl.obolibrary.org/obo/DOID_6512	hepatoid pattern ovarian yolk sac tumor	http://purl.obolibrary.org/obo/DOID_5350	ovarian endodermal sinus tumor		An ovarian endodermal sinus tumor that is characterized by a hepatoid pattern on histology, which involves large polyhedral cells with hyaline bodies but no bile.
http://purl.obolibrary.org/obo/DOID_6514	polyvesicular vitelline pattern ovarian yolk sac tumor	http://purl.obolibrary.org/obo/DOID_5350	ovarian endodermal sinus tumor		An ovarian endodermal sinus tumor that is characterized by a polyvesicular vitelline pattern, which involves vesicular structures with eccentric constrictions surrounded by a dense spindle cell stroma.
http://purl.obolibrary.org/obo/DOID_6518	Bartholin's gland adenomyoma	http://purl.obolibrary.org/obo/DOID_2068	Bartholin's gland benign neoplasm		A Bartholin's gland benign neoplasm that has_material_basis_in gland and muscle components.
http://purl.obolibrary.org/obo/DOID_6530	thymoma type B2	http://purl.obolibrary.org/obo/DOID_3282	thymoma type B		A thymoma type B that is characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli.
http://purl.obolibrary.org/obo/DOID_6536	plasma cell neoplasm	http://purl.obolibrary.org/obo/DOID_706	mature B-cell neoplasm		A mature B-cell neoplasm that is composed of plasma cells.
http://purl.obolibrary.org/obo/DOID_6543	acne	http://purl.obolibrary.org/obo/DOID_9098	sebaceous gland disease		A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.
http://purl.obolibrary.org/obo/DOID_6554	ovarian clear cell malignant adenofibroma	http://purl.obolibrary.org/obo/DOID_2394	ovarian cancer		An ovarian cancer that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.
http://purl.obolibrary.org/obo/DOID_6567	uterine corpus myxoid leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_5289	uterus leiomyosarcoma		A uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels.
http://purl.obolibrary.org/obo/DOID_6579	chest wall bone cancer	http://purl.obolibrary.org/obo/DOID_184	bone cancer		A bone cancer and malignant neoplasm of chest wall that is located_in the chest wall.
http://purl.obolibrary.org/obo/DOID_6581	breast apocrine carcinoma	http://purl.obolibrary.org/obo/DOID_3458	breast adenocarcinoma		A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm, large round nuclei and sharp cell borders.
http://purl.obolibrary.org/obo/DOID_6585	breast oncocytic carcinoma	http://purl.obolibrary.org/obo/DOID_3458	breast adenocarcinoma		A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm due to large numbers of mitochondria.
http://purl.obolibrary.org/obo/DOID_6587	breast tubular carcinoma	http://purl.obolibrary.org/obo/DOID_3458	breast adenocarcinoma		A breast adenocarcinoma that is characterized as a well-differentiated invasive carcinoma with regular cells arranged in well-defined tubules (typically one layer thick) surrounded by an abundant fibrohyaline stroma.
http://purl.obolibrary.org/obo/DOID_6612	leukocyte adhesion deficiency	http://purl.obolibrary.org/obo/DOID_9500	leukocyte disease		A combined T cell and B cell immunodeficiency that is characterized by defects affecting how white blood cells respond and travel to the site of a wound or infection affecting the immune system.
http://purl.obolibrary.org/obo/DOID_6613	vaginal villous adenoma	http://purl.obolibrary.org/obo/DOID_5402	vaginal adenoma		A vaginal adenoma that is a polyp that resembles colorectal villous adenoma.
http://purl.obolibrary.org/obo/DOID_6620	X-linked hyper IgM syndrome	http://purl.obolibrary.org/obo/DOID_0080544	hyper IgM syndrome		A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene on chromosome Xq26.3.
http://purl.obolibrary.org/obo/DOID_6621	cerebral angioma	http://purl.obolibrary.org/obo/DOID_5393	brain angioma		A brain angioma that is characterized by vascular abnormalities that develops from cranial and spinal blood vasculature, has_material_basis_in abnormally proliferating cells, derives_from endothelial cells in and about the vascular lumen.
http://purl.obolibrary.org/obo/DOID_6627	cervical adenoma malignum	http://purl.obolibrary.org/obo/DOID_3701	cervical mucinous adenocarcinoma		A cervical mucinous adenocarcinoma that is well differentiated, consisting of an endocervical glandular hyperplasia of lobular architecture resembling glands but with the characteristics of adenocarcinoma.
http://purl.obolibrary.org/obo/DOID_6629	nipple carcinoma	http://purl.obolibrary.org/obo/DOID_3459	breast carcinoma		A breast carcinoma that is located_in the nipple.
http://purl.obolibrary.org/obo/DOID_6634	adult central nervous system choriocarcinoma	http://purl.obolibrary.org/obo/DOID_3620	central nervous system cancer		A choriocarcinoma that is located in the central nervous system of an adult.
http://purl.obolibrary.org/obo/DOID_6639	childhood CNS choriocarcinoma	http://purl.obolibrary.org/obo/DOID_3594	choriocarcinoma		A choriocarcinoma characterized by extraembryonic differentiation along trophoblastic lines and high serum and CSF levels of HCG/_-HCG, has_material_basis_in abnormally proliferating cells, derives_from germ cells.
http://purl.obolibrary.org/obo/DOID_6641	breast juvenile papillomatosis	http://purl.obolibrary.org/obo/DOID_0060082	breast benign neoplasm		A breast benign neoplasm that is characterized by a discrete, muticystic breast lesion that occurs at a median age of 20 years.
http://purl.obolibrary.org/obo/DOID_6652	diffuse idiopathic skeletal hyperostosis	http://purl.obolibrary.org/obo/DOID_182	calcinosis		A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine.
http://purl.obolibrary.org/obo/DOID_6657	breast large cell neuroendocrine carcinoma	http://purl.obolibrary.org/obo/DOID_3459	breast carcinoma		A breast carcinoma that is characterized by large cell size, polygonal shape, low nuclear-cytoplasmic ratio, finely granular eosinophilic cytoplasm, occasionally prominent nucleoli, peripheral palisading, mitosis, and necrosis and in which greater than 50% of the tumor cells are positive for neuroendocrine markers (NSE, chromogranin A, synaptophysin).
http://purl.obolibrary.org/obo/DOID_6659	cervical large cell neuroendocrine carcinoma	http://purl.obolibrary.org/obo/DOID_2893	cervix carcinoma		A cervix carcinoma that has_material_basis_in neuroendocrine tissue and is characterized by a diffuse, organoid, trabecular, or cord-like pattern of neoplastic cells with abundant cytoplasm, large nuclei, prominent nucleoli, and a high mitotic rate.
http://purl.obolibrary.org/obo/DOID_6676	Froelich syndrome	http://purl.obolibrary.org/obo/DOID_1931	hypothalamic disease		A hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity.
http://purl.obolibrary.org/obo/DOID_6677	diffuse infiltrative lymphocytosis syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that occurs in human immunodeficiency virus (HIV) positive patients, which is accompanied by decreased kidney function. The spectrum of kidney involvement includes acute or chronic kidney disease, primarily tubular proteinuria and dense lymphocytic tubulointerstitial infiltrates predominantly composed of CD8 T cells.
http://purl.obolibrary.org/obo/DOID_6678	tooth and nail syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that affects the teeth, nails, hair, and/or skin. It is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails.
http://purl.obolibrary.org/obo/DOID_668	myositis ossificans	http://purl.obolibrary.org/obo/DOID_633	myositis		A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles.
http://purl.obolibrary.org/obo/DOID_6680	Capgras syndrome	http://purl.obolibrary.org/obo/DOID_778	delusional disorder		A delusional disorder in which a person holds a delusion that a friend, spouse, parent, or other close family member has been replaced by an identical-looking impostor.
http://purl.obolibrary.org/obo/DOID_6682	spondylolisthesis	http://purl.obolibrary.org/obo/DOID_0080010	bone structure disease		A bone structure disease that has_material_basis_in displacement located_in set of vertebrae.
http://purl.obolibrary.org/obo/DOID_6683	X-linked Aarskog syndrome	http://purl.obolibrary.org/obo/DOID_0111824	Aarskog syndrome		A syndromic X-linked intellectual disability affects a person's height, muscles, skeleton, genitals, and appearance of the face.
http://purl.obolibrary.org/obo/DOID_6686	Achard syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet.
http://purl.obolibrary.org/obo/DOID_6691	Aagenaes syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts.
http://purl.obolibrary.org/obo/DOID_6692	Barre-Lieou syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers.
http://purl.obolibrary.org/obo/DOID_6693	testicular monophasic choriocarcinoma	http://purl.obolibrary.org/obo/DOID_5551	choriocarcinoma of the testis		A choriocarcinoma of the testis that is characterized by a composition of only cytotrophoblasts and absent syncytiotrophoblastic giant cells.
http://purl.obolibrary.org/obo/DOID_670	amphetamine abuse	http://purl.obolibrary.org/obo/DOID_302	substance abuse		A substance abuse that involves the recurring use of amphetamines despite negative consequences.
http://purl.obolibrary.org/obo/DOID_6712	anterior spinal artery syndrome	http://purl.obolibrary.org/obo/DOID_319	spinal cord disease		A syndrome that is characterized by loss of function of the anterior two-thirds of the spinal cord that results from ischemia of the anterior spinal artery.
http://purl.obolibrary.org/obo/DOID_6721	Littre gland carcinoma	http://purl.obolibrary.org/obo/DOID_3856	male reproductive organ cancer		A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Littre glands.
http://purl.obolibrary.org/obo/DOID_6725	spinal stenosis	http://purl.obolibrary.org/obo/DOID_0080007	bone deterioration disease		A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord.
http://purl.obolibrary.org/obo/DOID_6726	fibrillary astrocytoma	http://purl.obolibrary.org/obo/DOID_3069	malignant astrocytoma		A malignant astrocytoma that is characterized as a low grade astrocytoma and has_material_basis_in neoplastic astrocytes.
http://purl.obolibrary.org/obo/DOID_6733	intrahepatic bile duct cystadenoma	http://purl.obolibrary.org/obo/DOID_5384	bile duct cystadenoma		A bile duct cystadenoma located_in an intrahepatic bile duct.
http://purl.obolibrary.org/obo/DOID_6741	bilateral breast cancer	http://purl.obolibrary.org/obo/DOID_3459	breast carcinoma		A breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times.
http://purl.obolibrary.org/obo/DOID_6752	internal auditory canal lipoma	http://purl.obolibrary.org/obo/DOID_3315	lipoma		An auditory system benign neoplasm that derives_from adipose tissue and is located_in the internal auditory canal.
http://purl.obolibrary.org/obo/DOID_6758	chest wall lymphoma	http://purl.obolibrary.org/obo/DOID_5093	thoracic cancer		A thoracic cancer that is located_in the chest wall.
http://purl.obolibrary.org/obo/DOID_6759	bone lymphoma	http://purl.obolibrary.org/obo/DOID_184	bone cancer		A bone cancer and lymphoma by site that results_in lymphoma starting in the bone.
http://purl.obolibrary.org/obo/DOID_676	systemic juvenile rheumatoid arthritis	http://purl.obolibrary.org/obo/DOID_7148	rheumatoid arthritis		A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.
http://purl.obolibrary.org/obo/DOID_6774	polyembryoma of the ovary	http://purl.obolibrary.org/obo/DOID_5351	ovarian primitive germ cell tumor		An ovarian primitive germ cell tumor that is dominantly composed of embryoid bodies.
http://purl.obolibrary.org/obo/DOID_6776	breast myoepithelial carcinoma	http://purl.obolibrary.org/obo/DOID_3459	breast carcinoma		A breast carcinome that is composed entirely or almost entirely of malignant spindle cells with myoepithelial differentiation.
http://purl.obolibrary.org/obo/DOID_6777	villoglandular endometrial endometrioid adenocarcinoma	http://purl.obolibrary.org/obo/DOID_2870	endometrial adenocarcinoma		An endometrial adenocarcinoma that is characterized by papillary differentiation.
http://purl.obolibrary.org/obo/DOID_678	progressive supranuclear palsy	http://purl.obolibrary.org/obo/DOID_480	movement disease		A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain.
http://purl.obolibrary.org/obo/DOID_6785	desmoplastic small round cell tumor	http://purl.obolibrary.org/obo/DOID_3098	small cell sarcoma		A small cell sarcoma that is characterized by a recurrent chromosomal translocation t(11;22)(p13;q12) and the presence of small round cells in a desmoplastic stroma. It usually affects children and young adults. The most common site of involvement is the abdomen. Patients usually present with abdominal distention, pain, ascites, and a palpable abdominal mass.
http://purl.obolibrary.org/obo/DOID_6786	childhood botryoid rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_3255	botryoid rhabdomyosarcoma		A botryoid rhabdomyosarcoma that presents in childhood.
http://purl.obolibrary.org/obo/DOID_6787	childhood vagina botryoid rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_6788	vagina botryoid rhabdomyosarcoma		A vagina botryoid rhabdomyosarcoma that presents in childhood.
http://purl.obolibrary.org/obo/DOID_6788	vagina botryoid rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_119	vaginal cancer		A botryoid rhabdomyosarcoma that is located_in the vagina.
http://purl.obolibrary.org/obo/DOID_6804	colon Kaposi sarcoma	http://purl.obolibrary.org/obo/DOID_5260	colon sarcoma		A sarcoma of colon that is located_in the colon.
http://purl.obolibrary.org/obo/DOID_6811	juvenile pilocytic astrocytoma	http://purl.obolibrary.org/obo/DOID_4851	pilocytic astrocytoma		A pilocytic astrocytoma that occurs during adolescence.
http://purl.obolibrary.org/obo/DOID_6812	childhood pilocytic astrocytoma	http://purl.obolibrary.org/obo/DOID_4851	pilocytic astrocytoma		A pilocytic astrocytoma that occurs during childhood.
http://purl.obolibrary.org/obo/DOID_6827	pancreatic solid pseudopapillary carcinoma	http://purl.obolibrary.org/obo/DOID_4905	pancreatic carcinoma		A pancreatic carcinoma that is characterized by its papillary architecture.
http://purl.obolibrary.org/obo/DOID_6837	rete ovarii adenoma	http://purl.obolibrary.org/obo/DOID_0060084	cell type benign neoplasm		A rete ovarii benign neoplasm that derives_from glandular epithelial cells.
http://purl.obolibrary.org/obo/DOID_6838	rete ovarii cystadenofibroma	http://purl.obolibrary.org/obo/DOID_4895	rete ovarii benign neoplasm		A rete ovarii benign neoplasm that is derives_from epithelial and stromal cells.
http://purl.obolibrary.org/obo/DOID_6839	breast intraductal proliferative lesion	http://purl.obolibrary.org/obo/DOID_3013	intraductal breast benign neoplasm		An intraductal breast benign neoplasm that is characterized by an increase in the number of cells perpendicular to the basement membrane resulting in total alteration and distension of the normal unit structure of the breast. It is confined to the duct-lobular system, originates from the terminal duct-lobular unit and displays different cytological and architectural patterns of proliferation.
http://purl.obolibrary.org/obo/DOID_684	hepatocellular carcinoma	http://purl.obolibrary.org/obo/DOID_686	liver carcinoma		A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.
http://purl.obolibrary.org/obo/DOID_6841	flat ductal epithelial atypia	http://purl.obolibrary.org/obo/DOID_6839	breast intraductal proliferative lesion		A breast intraductal proliferative lesion that is characterized by columnar cell changes with cytologic atypia.
http://purl.obolibrary.org/obo/DOID_6847	adult botryoid rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_3255	botryoid rhabdomyosarcoma		A botryoid rhabdomyosarcoma that is present in an adult.
http://purl.obolibrary.org/obo/DOID_6848	adult vagina botryoid rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_6788	vagina botryoid rhabdomyosarcoma		A vagina botryoid rhabdomyosarcoma that presents in adulthood.
http://purl.obolibrary.org/obo/DOID_6857	pineal region mature teratoma	http://purl.obolibrary.org/obo/DOID_6856	pineal region teratoma		A mature teratoma that is located_in the pineal region.
http://purl.obolibrary.org/obo/DOID_686	liver carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A liver cancer that has_material_basis_in epithelial cells.
http://purl.obolibrary.org/obo/DOID_6865	oxyphilic endometrial endometrioid adenocarcinoma	http://purl.obolibrary.org/obo/DOID_2870	endometrial adenocarcinoma		An endometrial adenocarcinoma that is composed predominantly or entirely of large eosinophilic cells.
http://purl.obolibrary.org/obo/DOID_6873	skin tag	http://purl.obolibrary.org/obo/DOID_2053	reactive cutaneous fibrous lesion		A reactive cutaneous fibrous lesion that is characterized by a small, painless, flesh colored peduncle arising on the surface of the skin, and develops_from areas of friction, or may be associated with HPV virus, or Crohn's disease.
http://purl.obolibrary.org/obo/DOID_688	embryonal cancer	http://purl.obolibrary.org/obo/DOID_2994	germ cell cancer		A germ cell cancer that is associated with an embryo.
http://purl.obolibrary.org/obo/DOID_6880	small bowel fibrosarcoma	http://purl.obolibrary.org/obo/DOID_5272	small intestinal sarcoma		A fibrosarcoma of soft tissue and small intestinal sarcoma that is located_in the small bowel.
http://purl.obolibrary.org/obo/DOID_6898	ovarian seromucinous carcinoma	http://purl.obolibrary.org/obo/DOID_4001	ovarian carcinoma		An ovarian carcinoma that is biphasic and has_material_basis_in epithelial and mesenchymal elements.
http://purl.obolibrary.org/obo/DOID_6901	hereditary ovarian carcinoma	http://purl.obolibrary.org/obo/DOID_2152	ovary epithelial cancer		An ovary epithelial cancer that has developed in relatives of patients that have a history of ovarian carcinoma.
http://purl.obolibrary.org/obo/DOID_6903	eye lymphoma	http://purl.obolibrary.org/obo/DOID_0060058	lymphoma		A lymphoma by site that is manifested in immune system cells called lymphocytes.
http://purl.obolibrary.org/obo/DOID_6906	glomangiomatosis	http://purl.obolibrary.org/obo/DOID_5238	benign perivascular tumor		A benign perivascular tumor that is characterized as a vascular variant of a glomus tumor.
http://purl.obolibrary.org/obo/DOID_6938	childhood intraocular retinoblastoma	http://purl.obolibrary.org/obo/DOID_4653	intraocular retinoblastoma		An intraocular retinoblastoma that effects children.
http://purl.obolibrary.org/obo/DOID_6939	childhood brain meningioma	http://purl.obolibrary.org/obo/DOID_0060106	brain meningioma		A brain meningioma of childhood that is characterized by brain tumor which develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin.
http://purl.obolibrary.org/obo/DOID_6943	vulvar inverted follicular keratosis	http://purl.obolibrary.org/obo/DOID_6945	inverted follicular keratosis		An inverted follicular keratosis that is located_in the vulva.
http://purl.obolibrary.org/obo/DOID_6948	malignant gastric teratoma	http://purl.obolibrary.org/obo/DOID_4716	malignant gastric germ cell tumor		A malignant teratoma that has_material_basis_in gastric tissue.
http://purl.obolibrary.org/obo/DOID_6950	combat disorder	http://purl.obolibrary.org/obo/DOID_6088	acute stress disorder		An acute stress disorder that involves neurotic reactions to unusual, severe, or overwhelming military stress.
http://purl.obolibrary.org/obo/DOID_6958	aleukemic monocytic leukemia cutis	http://purl.obolibrary.org/obo/DOID_6003	aleukemic leukemia cutis		An aleukemic leukemia cutis that is characterized by infiltration of the skin by neoplastic monocytes.
http://purl.obolibrary.org/obo/DOID_6961	Bartholin's gland squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A Bartholin's gland carcinoma that derives_from squamous epithelial cells.
http://purl.obolibrary.org/obo/DOID_6969	acute canaliculitis	http://purl.obolibrary.org/obo/DOID_6970	acute inflammation of lacrimal passage		An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal caniculi, has_symptom epiphora, has_symptom conjunctivitis, has_symptom eyelid mattering and has_symptom purulent discharge.
http://purl.obolibrary.org/obo/DOID_7004	ACTH-secreting pituitary adenoma	http://purl.obolibrary.org/obo/DOID_5395	functioning pituitary adenoma		A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome.
http://purl.obolibrary.org/obo/DOID_701	dentin dysplasia	http://purl.obolibrary.org/obo/DOID_214	teeth hard tissue disease		A teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology.
http://purl.obolibrary.org/obo/DOID_7013	ovarian mucinous cystadenofibroma	http://purl.obolibrary.org/obo/DOID_6469	ovarian mucinous adenofibroma		An ovarian mucinous adenofibroma that is characterized by the presence of cysts or cystic spaces.
http://purl.obolibrary.org/obo/DOID_7016	tendon sheath lipoma	http://purl.obolibrary.org/obo/DOID_3315	lipoma		A synovium neoplasm that is located_in the tendon sheath.
http://purl.obolibrary.org/obo/DOID_7031	glottis squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A squamous cell carcinoma that is located_in the glottis.
http://purl.obolibrary.org/obo/DOID_7032	bile duct clear cell adenocarcinoma	http://purl.obolibrary.org/obo/DOID_4896	bile duct adenocarcinoma		A clear cell adenocarcinoma that is located_in the bile duct.
http://purl.obolibrary.org/obo/DOID_7033	anisakiasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung.
http://purl.obolibrary.org/obo/DOID_7037	childhood immature teratoma of ovary	http://purl.obolibrary.org/obo/DOID_6331	immature teratoma of ovary		An immature teratoma of overy that presents in childhood.
http://purl.obolibrary.org/obo/DOID_7046	cervical basaloid squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_3744	cervical squamous cell carcinoma		A cervical squamous cell carcinoma that is characterized by nests of immature, basal-type squamous cells with scanty cytoplasm.
http://purl.obolibrary.org/obo/DOID_7048	vulvar basaloid squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_2101	vulva squamous cell carcinoma		A vulva squamous cell carcinoma that is composed of nests of immature, basal-type squamous cells with scanty cytoplasm.
http://purl.obolibrary.org/obo/DOID_7071	spinal cord dermoid cyst	http://purl.obolibrary.org/obo/DOID_319	spinal cord disease		A dermoid cyst that is located_in the spinal cord.
http://purl.obolibrary.org/obo/DOID_7076	breast lipid-rich carcinoma	http://purl.obolibrary.org/obo/DOID_5658	lipid-rich carcinoma		A lipid-rich carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells.
http://purl.obolibrary.org/obo/DOID_7079	adult cystic teratoma	http://purl.obolibrary.org/obo/DOID_2660	cystic teratoma		A cystic teratoma that is present in an adult.
http://purl.obolibrary.org/obo/DOID_7086	multicentric papillary thyroid carcinoma	http://purl.obolibrary.org/obo/DOID_3969	papillary thyroid carcinoma		A papillary thyroid carcinoma arising in the thyroid gland from multiple foci.
http://purl.obolibrary.org/obo/DOID_7088	columnar cell papillary thyroid carcinoma	http://purl.obolibrary.org/obo/DOID_3969	papillary thyroid carcinoma		A papillary thyroid carcinoma that is characterized by the presence of pseudostratified malignant follicular cells.
http://purl.obolibrary.org/obo/DOID_7089	tall cell papillary thyroid carcinoma	http://purl.obolibrary.org/obo/DOID_3969	papillary thyroid carcinoma		A papillary thyroid carcinoma that is characterized by the presence of tall malignant follicular cells, arranged in papillary and trabecular patterns.
http://purl.obolibrary.org/obo/DOID_710	splenic manifestation of leukemia	http://purl.obolibrary.org/obo/DOID_672	spleen cancer		A leukemia that is located_in the spleen. It results_in an enlargement of the leukemia.
http://purl.obolibrary.org/obo/DOID_711	refractory hairy cell leukemia	http://purl.obolibrary.org/obo/DOID_285	hairy cell leukemia		A refractory hematologic cancer that is a mature B cell cancer that does not yield readily to treatment.
http://purl.obolibrary.org/obo/DOID_712	refractory hematologic cancer	http://purl.obolibrary.org/obo/DOID_2531	hematologic cancer		A hematologic cancer that is located in the blood or bone marrow that doesn't respond to treatment.
http://purl.obolibrary.org/obo/DOID_7138	cystitis cystica	http://purl.obolibrary.org/obo/DOID_1679	cystitis		A cysititis that is characterized by hyperplasia of bladder submucosa and cyst formation caused by chronic irritation of the bladder.
http://purl.obolibrary.org/obo/DOID_7139	endometrial small cell carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		An small cell carcinoma that has_material_basis_in small cells and located_in the endometrium.
http://purl.obolibrary.org/obo/DOID_7140	Bartholin's gland small cell carcinoma	http://purl.obolibrary.org/obo/DOID_3999	Bartholin's gland carcinoma		A small cell carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells and located_in Bartholin's gland.
http://purl.obolibrary.org/obo/DOID_7146	Langerhans cell sarcoma	http://purl.obolibrary.org/obo/DOID_9500	leukocyte disease		A histiocytic and dendritic cell cancer that derives from the lymph nodes, derives from the skin, derives from the liver, derives from the spleen and derives from bones.
http://purl.obolibrary.org/obo/DOID_7147	ankylosing spondylitis	http://purl.obolibrary.org/obo/DOID_848	arthritis		An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.
http://purl.obolibrary.org/obo/DOID_7148	rheumatoid arthritis	http://purl.obolibrary.org/obo/DOID_848	arthritis		An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.
http://purl.obolibrary.org/obo/DOID_7152	prostate stromal sarcoma	http://purl.obolibrary.org/obo/DOID_4054	prostate sarcoma		A stromal sarcoma and sarcoma of prostate and tumor of specialized prostatic stroma that is located_in the prostate.
http://purl.obolibrary.org/obo/DOID_7154	anaplastic oligodendroglioma	http://purl.obolibrary.org/obo/DOID_3181	oligodendroglioma		An oligodendroglioma that is characterized by focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity).
http://purl.obolibrary.org/obo/DOID_7160	rectal leiomyoma	http://purl.obolibrary.org/obo/DOID_1984	rectal benign neoplasm		A rectal benign neoplasm that has_material_basis_in smooth muscle tissue.
http://purl.obolibrary.org/obo/DOID_7177	anal canal squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		An anal canal cancer that derives_from epithelial squamous cells.
http://purl.obolibrary.org/obo/DOID_718	autoimmune hemolytic anemia	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A hemolytic anemia that is characterized by deficient red blood cells caused by auto-antibodies.
http://purl.obolibrary.org/obo/DOID_7188	autoimmune thyroiditis	http://purl.obolibrary.org/obo/DOID_0060005	autoimmune disease of endocrine system		An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues.
http://purl.obolibrary.org/obo/DOID_7191	ovarian endometrioid cystadenoma	http://purl.obolibrary.org/obo/DOID_3269	ovarian cystadenoma		An ovarian cystadenoma that is characterized by the presence of endometrial tissue.
http://purl.obolibrary.org/obo/DOID_720	normocytic anemia	http://purl.obolibrary.org/obo/DOID_2355	anemia		An anemia that is characterized by circulating red blood cells that are the same size and have a normal red color and a mean corpuscular volume (MCV) between 80 and 100 fL.
http://purl.obolibrary.org/obo/DOID_7202	intermediate malignant teratoma	http://purl.obolibrary.org/obo/DOID_5563	malignant teratoma		A malignant teratoma characterized by the presence of an intermediate amount of undifferentiated tissues.
http://purl.obolibrary.org/obo/DOID_7221	gallbladder papillary carcinoma	http://purl.obolibrary.org/obo/DOID_3121	gallbladder cancer		A papillary carcioma that is located_in the gallbladder.
http://purl.obolibrary.org/obo/DOID_7223	breast giant fibroadenoma	http://purl.obolibrary.org/obo/DOID_1618	breast fibroadenoma		A breast fibroadenoma that is larger than 5 cm.
http://purl.obolibrary.org/obo/DOID_7231	childhood CNS embryonal cell carcinoma	http://purl.obolibrary.org/obo/DOID_1319	brain cancer		A central nervous system childhood germ cell tumor characterized by germ cell tumor that develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells.
http://purl.obolibrary.org/obo/DOID_7233	adult central nervous system embryonal carcinoma	http://purl.obolibrary.org/obo/DOID_5349	central nervous system adult germ cell tumor		A central nervous system adult germ cell tumor that develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells.
http://purl.obolibrary.org/obo/DOID_7234	mucinous cystadenocarcinoma of pancreas	http://purl.obolibrary.org/obo/DOID_4073	pancreatic cystadenocarcinoma		A pancreatic cystadenocarinoma that is characterized by histological characteristics of columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localized to the body or tail of the pancreas.
http://purl.obolibrary.org/obo/DOID_7241	uterine corpus apoplectic leiomyoma	http://purl.obolibrary.org/obo/DOID_7242	uterine corpus cellular leiomyoma		An uterine corpus cellular leiomyoma that is characterized by stellate zones of recent hemorrhage within nodules of hypercellular smooth muscle.
http://purl.obolibrary.org/obo/DOID_7242	uterine corpus cellular leiomyoma	http://purl.obolibrary.org/obo/DOID_127	leiomyoma		An uterine benign neoplasm that derives_from smooth muscle cells and that is located_in the uterine corpus.
http://purl.obolibrary.org/obo/DOID_7263	selective IgD deficiency disease	http://purl.obolibrary.org/obo/DOID_6025	selective immunoglobulin deficiency disease		A selective immunoglobulin deficiency disease that is characterized by low serum levels of IgD immunoglobulins, but is associated with few clinical symptoms.
http://purl.obolibrary.org/obo/DOID_7266	hereditary fallopian tube carcinoma	http://purl.obolibrary.org/obo/DOID_1963	fallopian tube carcinoma		A fallopian tube carcinoma that has developed in relatives of patients that have a history of fallopian tube carcinoma.
http://purl.obolibrary.org/obo/DOID_728	nodular episcleritis	http://purl.obolibrary.org/obo/DOID_11343	scleral disease		A scleral disease that is characterized by painful inflammation with surface nodule formation of the episcleral tissues that, importantly, spares the sclera itself and has_symptom pain, red eyes, photophobia, tearing, blurry vision, and appearance of eye surface irregularity. Nodular episcleritis is typically self-limited and may be caused by vascular congestion within the superficial episcleral plexus.
http://purl.obolibrary.org/obo/DOID_7281	uterine corpus adenocarcinofibroma	http://purl.obolibrary.org/obo/DOID_4114	uterine body mixed cancer		A uterine body mixed cancer that derives_from epithelial cells which originate in glandular tissue and connective tissue.
http://purl.obolibrary.org/obo/DOID_7289	endometrial endometrioid adenocarcinoma, secretory variant	http://purl.obolibrary.org/obo/DOID_2870	endometrial adenocarcinoma		An endometrial adenocarcinoma that is characterized by the presence of confluent, cribriform or villoglandular voluminous glands with glycogen, subnuclear vacuoles (resembles day 17 - 22 endometrium), plus late secretory pattern in uninvolved endometrium.
http://purl.obolibrary.org/obo/DOID_7293	mucin-rich endometrial endometrioid adenocarcinoma	http://purl.obolibrary.org/obo/DOID_2870	endometrial adenocarcinoma		An endometrial adenocarcinoma that is characterized by the presence of abundant mucin.
http://purl.obolibrary.org/obo/DOID_7297	childhood extraosseous osteosarcoma	http://purl.obolibrary.org/obo/DOID_3357	extraosseous osteosarcoma		An extraosseous osteosarcoma that arises from the soft tissue and occurs during childhood.
http://purl.obolibrary.org/obo/DOID_7305	astroblastoma	http://purl.obolibrary.org/obo/DOID_3069	malignant astrocytoma		A malignant astrocytoma that is characterized by tumor cells with characteristics suggestive of an astrocytic origin (positive for GFAP), arranged perivascularly.
http://purl.obolibrary.org/obo/DOID_7320	ovarian serous cystadenofibroma	http://purl.obolibrary.org/obo/DOID_5474	ovarian serous adenofibroma		An ovarian serous adenofibroma that is characterized by the presence of cysts or cystic spaces.
http://purl.obolibrary.org/obo/DOID_7328	iris spindle cell melanoma	http://purl.obolibrary.org/obo/DOID_1909	melanoma		A malignant melanoma of iris and spindle cell intraocular melanoma that is located_in the iris.
http://purl.obolibrary.org/obo/DOID_7332	esophageal tuberculosis	http://purl.obolibrary.org/obo/DOID_6050	esophageal disease		A gastrointestinal tuberculosis that involves formation of tuberculous ulcers located_in esophagus. The infection has_symptom dysphagia, has_symptom cough, has_symptom chest pain, has_symptom fever and has_symptom weight loss.
http://purl.obolibrary.org/obo/DOID_734	urethra cancer	http://purl.obolibrary.org/obo/DOID_732	urethral disease		An urinary tract cancer that derives_from the tissues of the urethra.
http://purl.obolibrary.org/obo/DOID_7340	childhood ovarian dysgerminoma	http://purl.obolibrary.org/obo/DOID_6084	childhood ovarian germ cell tumor		A childhood ovarian germ cell tumor that derives_from cells that give rise to egg cells.
http://purl.obolibrary.org/obo/DOID_7347	ovarian stromal hyperthecosis	http://purl.obolibrary.org/obo/DOID_1100	ovarian disease		An ovarian disease that is characterized by the presence of nests of luteinized theca cells scattered throughout the ovary, which results in severe hyperandrogenism and insulin resistance. Clinical symptoms involve slowly progressive acne, hirsutism, virilization.
http://purl.obolibrary.org/obo/DOID_736	male urethral cancer	http://purl.obolibrary.org/obo/DOID_734	urethra cancer		An urethral cancer that derives_from the male urethra.
http://purl.obolibrary.org/obo/DOID_7363	vulvar keratinizing squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_2101	vulva squamous cell carcinoma		A vulva squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization.
http://purl.obolibrary.org/obo/DOID_7371	superficial urinary bladder cancer	http://purl.obolibrary.org/obo/DOID_4007	bladder carcinoma		A carcinoma of bladder that originates in the epithelial cells (the internal lining) of the bladder wall and is limited to this area.
http://purl.obolibrary.org/obo/DOID_7379	adrenal medulla carcinoma	http://purl.obolibrary.org/obo/DOID_5719	adrenal medulla cancer		An adrenal medulla cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
http://purl.obolibrary.org/obo/DOID_738	female urethral cancer	http://purl.obolibrary.org/obo/DOID_734	urethra cancer		An urethral cancer that derives_from the female urethra.
http://purl.obolibrary.org/obo/DOID_7388	pulmonary vein leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_866	vein disease		A leiomyosarcoma that is located_in the pulmonary vein.
http://purl.obolibrary.org/obo/DOID_7389	pulmonary artery leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_175	vascular cancer		A leiomyosarcoma that is located_in the pulmonary artery.
http://purl.obolibrary.org/obo/DOID_7390	superior vena cava leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_866	vein disease		A leiomyosarcoma that is located_in the superior vena cava.
http://purl.obolibrary.org/obo/DOID_7400	Nijmegen breakage syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3.
http://purl.obolibrary.org/obo/DOID_7408	vulvar keratoacanthoma	http://purl.obolibrary.org/obo/DOID_2101	vulva squamous cell carcinoma		A vulva squamous cell carcinoma that is rapidly growing, self-limited, and characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor. It is considered a variant of well-differentiated squamous cell carcinoma with distinct clinical behavior.
http://purl.obolibrary.org/obo/DOID_7409	vulvar non-keratinizing squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_2101	vulva squamous cell carcinoma		A vulva squamous cell carcinoma that is composed of polygonal squamous cells growing in sheets or nests that may have intercellular bridges, but keratin pearls are not present.
http://purl.obolibrary.org/obo/DOID_7411	ovarian endometrioid cystadenofibroma	http://purl.obolibrary.org/obo/DOID_5480	ovarian endometrioid adenofibroma		An ovarian endometrioid adenofibroma that is characterized by the presence of cysts and/ or cystic spaces.
http://purl.obolibrary.org/obo/DOID_7426	cutaneous anthrax	http://purl.obolibrary.org/obo/DOID_7427	anthrax disease		An anthrax disease that results_in infection located_in skin, has_material_basis_in Bacillus anthracis, which is transmitted_by contact with infected animals or animal products. The infection has_symptom skin lesion that eventually forms an ulcer with a black center.
http://purl.obolibrary.org/obo/DOID_7429	childhood brain germinoma	http://purl.obolibrary.org/obo/DOID_2127	brain germinoma		A brain germinoma that is characterized by tumor of the germ cell in childhood that has_material_basis_in abnormally proliferating cells derives_from germ cells, located_in pineal area and located_in suprasellar area.
http://purl.obolibrary.org/obo/DOID_743	dermatographia	http://purl.obolibrary.org/obo/DOID_0060220	physical urticaria		A physical urticaria induced by stroking of the skin.
http://purl.obolibrary.org/obo/DOID_7430	childhood germ cell brain tumor	http://purl.obolibrary.org/obo/DOID_1319	brain cancer		A central nervous system childhood germ cell tumor that is characterized by germ cell tumor, that develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells.
http://purl.obolibrary.org/obo/DOID_7436	sarcomatoid uterine corpus endometrioid adenocarcinoma	http://purl.obolibrary.org/obo/DOID_2870	endometrial adenocarcinoma		An endometrial adenocarcinoma that has_material_basis_in mesenchymal elements.
http://purl.obolibrary.org/obo/DOID_7437	uterus perivascular epithelioid cell tumor	http://purl.obolibrary.org/obo/DOID_9460	uterine corpus cancer		A perivascular epithelioid cell tumor that is located_in the uterus.
http://purl.obolibrary.org/obo/DOID_7438	ovarian clear cell cystadenocarcinoma	http://purl.obolibrary.org/obo/DOID_3605	ovarian cystadenocarcinoma		An ovarian cystadenocarcinoma that is characterized by the presence of cells with clear cytoplasm.
http://purl.obolibrary.org/obo/DOID_7442	monoclonal gammopathy of uncertain significance	http://purl.obolibrary.org/obo/DOID_620	blood protein disease		A blood protein disease that is characterized by the presence of an abnormal protein called monoclonal protein in the blood.
http://purl.obolibrary.org/obo/DOID_745	epididymis adenomatoid tumor	http://purl.obolibrary.org/obo/DOID_657	adenoma		A male reproductive organ benign neoplasm that is located_in the epididymis.
http://purl.obolibrary.org/obo/DOID_7457	enterobiasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching.
http://purl.obolibrary.org/obo/DOID_7459	acantholytic variant squamous cell breast carcinoma	http://purl.obolibrary.org/obo/DOID_5514	breast squamous cell carcinoma		A breast squamous cell carcinoma that is characterized by lack of cohesiveness of the tumour cells resulting in a pseudovascular or pseudoglandular appearance.
http://purl.obolibrary.org/obo/DOID_7460	spindle cell variant squamous cell breast carcinoma	http://purl.obolibrary.org/obo/DOID_5514	breast squamous cell carcinoma		A breast squamous cell carcinoma that is characterized by the presence of spindle-shaped malignant cells and arises from the breast parenchyma.
http://purl.obolibrary.org/obo/DOID_7461	large cell keratinizing variant squamous cell breast carcinoma	http://purl.obolibrary.org/obo/DOID_5514	breast squamous cell carcinoma		A breast squamous cell carcinoma characterized by large epithelial cells that contain keratin.
http://purl.obolibrary.org/obo/DOID_7465	chronic NK-cell lymphocytosis	http://purl.obolibrary.org/obo/DOID_2916	hypersensitivity reaction type IV disease		A hypersensitivity reaction type IV disease that is characterized by absolute lymphocytosis of natural killer (CD3- CD16+) cells often with concurrent cytopenia and has_symptom fever, arthralgia, apthous ulcers, vasculitic skin rash, and peripheral neuropathy.
http://purl.obolibrary.org/obo/DOID_7474	malignant pleural mesothelioma	http://purl.obolibrary.org/obo/DOID_5158	pleural cancer		A pleural cancer that has_material_basis_in mesothelium cells.
http://purl.obolibrary.org/obo/DOID_7483	cervical keratinizing squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_3744	cervical squamous cell carcinoma		A cervical squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization.
http://purl.obolibrary.org/obo/DOID_7488	posterior urethra cancer	http://purl.obolibrary.org/obo/DOID_738	female urethral cancer		A female urethral cancer located_in the posterior urethra.
http://purl.obolibrary.org/obo/DOID_7489	Osgood-Schlatter's disease	http://purl.obolibrary.org/obo/DOID_3342	bone inflammation disease		A bone inflammation disease that involves rupture of the growth plate in children located_in tibia.
http://purl.obolibrary.org/obo/DOID_7497	brain ependymoma	http://purl.obolibrary.org/obo/DOID_5612	spinal cancer		A brain glioma that is characterized by tumor of the ependyma, has_material_basis_in abnormally proliferating cells derives_from ependymal cells, located_in spine in adults and located_in intracranial (4th ventricle) in children.
http://purl.obolibrary.org/obo/DOID_7503	extrahepatic bile duct papillary adenoma	http://purl.obolibrary.org/obo/DOID_5438	extrahepatic bile duct adenoma		An extrahepatic bile duct adenoma that is located_in the extrahepatic bile duct.
http://purl.obolibrary.org/obo/DOID_7511	breast intraductal papillomatosis	http://purl.obolibrary.org/obo/DOID_0060082	breast benign neoplasm		A benign breast neoplasm characterized by the presence of multiple intraductal papillomas.
http://purl.obolibrary.org/obo/DOID_7516	childhood central nervous system mixed germ cell tumor	http://purl.obolibrary.org/obo/DOID_1319	brain cancer		A central nervous system germ cell tumor of childhood that is characterized by mixed germ cell tumor, develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells.
http://purl.obolibrary.org/obo/DOID_7520	periductal breast myoepitheliosis	http://purl.obolibrary.org/obo/DOID_7521	breast myoepitheliosis		A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells around small ducts.
http://purl.obolibrary.org/obo/DOID_7521	breast myoepitheliosis	http://purl.obolibrary.org/obo/DOID_3004	breast myoepithelial neoplasm		A breast myoepithelial neoplasm that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in or around small ducts.
http://purl.obolibrary.org/obo/DOID_7522	childhood infratentorial embryonal tumor with multilayered rosettes, C19MC-altered	http://purl.obolibrary.org/obo/DOID_7841	childhood embryonal tumor with multilayered rosettes, C19MC-altered		A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children.
http://purl.obolibrary.org/obo/DOID_7527	acute gonococcal endometritis	http://purl.obolibrary.org/obo/DOID_7528	acute endometritis		An acute endometritis that is caused by gonorrhea.
http://purl.obolibrary.org/obo/DOID_7528	acute endometritis	http://purl.obolibrary.org/obo/DOID_1002	endometritis		An endometritis that is characterized by onset within the past 1 - 3 days.
http://purl.obolibrary.org/obo/DOID_7531	anal gland adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3447	anus adenocarcinoma		An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal gland.
http://purl.obolibrary.org/obo/DOID_7537	breast cystic hypersecretory carcinoma	http://purl.obolibrary.org/obo/DOID_4922	breast secretory carcinoma		A breast secretory carcinoma that is characterized by numerous cysts of varying sizes containing gelatinous material on gross examination, microscopically dilated ducts containing eosinophilic secretion and the absence of micropapillary pattern and cytological atypia in the lining epithelium.
http://purl.obolibrary.org/obo/DOID_7538	breast ductal adenoma	http://purl.obolibrary.org/obo/DOID_1625	breast adenoma		A breast adenoma that is characterized by a prominent fibrotic capsule and a bilayered tubular component.
http://purl.obolibrary.org/obo/DOID_7539	pregnancy adenoma	http://purl.obolibrary.org/obo/DOID_1625	breast adenoma		A breast adenoma that occurs during pregnancy.
http://purl.obolibrary.org/obo/DOID_754	bladder tuberculosis	http://purl.obolibrary.org/obo/DOID_365	bladder disease		An urogenital tuberculosis that is located_in urinary bladder, which results in fibrosis of bladder wall muscles.
http://purl.obolibrary.org/obo/DOID_7540	breast apocrine adenoma	http://purl.obolibrary.org/obo/DOID_1625	breast adenoma		A breast adenoma that is characterized by apocine differentiation.
http://purl.obolibrary.org/obo/DOID_7541	mixed epithelial/mesenchymal metaplastic breast carcinoma	http://purl.obolibrary.org/obo/DOID_4680	breast metaplastic carcinoma		A breast metaplastic carcinoma that is characterized by the presence of epithelial and mesenchymal components.
http://purl.obolibrary.org/obo/DOID_7565	vulvar eccrine porocarcinoma	http://purl.obolibrary.org/obo/DOID_1294	vulva carcinoma		A vulva carcinoma that is characterized by heterogenous histology that includes squamous cells, mucinous cells, clear cells, pigmented cells, and spindle cells and derives_from eccrine sweat glands.
http://purl.obolibrary.org/obo/DOID_7567	vulvar clear cell hidradenocarcinoma	http://purl.obolibrary.org/obo/DOID_1294	vulva carcinoma		A vulva carcinoma that derives_from sweat glands and is characterized by the presence of clear cells.
http://purl.obolibrary.org/obo/DOID_7575	pancreatic intraductal papillary-mucinous neoplasm	http://purl.obolibrary.org/obo/DOID_1795	malignant exocrine pancreas neoplasm		A pancreatic cancer that is characterized as a slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts.
http://purl.obolibrary.org/obo/DOID_7578	breast scirrhous carcinoma	http://purl.obolibrary.org/obo/DOID_3459	breast carcinoma		A breast carcinoma that is characterized by the presence of hard, fibrous, particularly invasive tumors in which the malignant cells occur singly or in small clusters or strands in dense connective tissue.
http://purl.obolibrary.org/obo/DOID_758	visceral heterotaxy 5	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A visceral heterotaxy that is characterized by complete right-to-left reversal of the position of the major thoracic and abdominal organs and that has_material_basis_in heterozygous mutation in the NODAL gene on chromosome 10q22.
http://purl.obolibrary.org/obo/DOID_7591	gestational ovarian choriocarcinoma	http://purl.obolibrary.org/obo/DOID_5550	choriocarcinoma of ovary		A choriocarcinoma of the ovary that develops in the presence of a preceding gestational event.
http://purl.obolibrary.org/obo/DOID_7598	cervical lymphoepithelioma-like carcinoma	http://purl.obolibrary.org/obo/DOID_3744	cervical squamous cell carcinoma		A cervical squamous cell carcinoma that is characterized by poorly defined islands of undifferentiated squamous cells in a background intensely infi ltrated by lymphocytes. The tumour cells have uniform, vesicular nuclei with prominent nucleoli and moderate amounts of slightly eosinophilic cytoplasm. The cell borders are indistinct.
http://purl.obolibrary.org/obo/DOID_7602	conventional osteosarcoma	http://purl.obolibrary.org/obo/DOID_3376	bone osteosarcoma		A bone osteosarcoma that is characterized by the presence of osteoid extracellular matrix and that arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation.
http://purl.obolibrary.org/obo/DOID_7608	parathyroid adenoma	http://purl.obolibrary.org/obo/DOID_60008	parathyroid gland benign neoplasm		A parathyroid gland benign neoplam that is located_in the parathyroid.
http://purl.obolibrary.org/obo/DOID_7615	sarcomatosis	http://purl.obolibrary.org/obo/DOID_1115	sarcoma		A sarcoma that results_in the formation of numerous sarcomas or located_in various parts of the body.
http://purl.obolibrary.org/obo/DOID_7631	adult embryonal tumor with multilayered rosettes, C19MC-altered	http://purl.obolibrary.org/obo/DOID_0080903	embryonal tumor with multilayered rosettes, C19MC-altered		An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults.
http://purl.obolibrary.org/obo/DOID_7632	Cowper gland carcinoma	http://purl.obolibrary.org/obo/DOID_3856	male reproductive organ cancer		A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Cowper's gland.
http://purl.obolibrary.org/obo/DOID_7650	pulmonary type ovarian small cell carcinoma	http://purl.obolibrary.org/obo/DOID_6179	ovarian small cell carcinoma		An ovarian small cell carcinoma that resembles pulmonary small cell carcinoma of neuroendocrine type.
http://purl.obolibrary.org/obo/DOID_7651	small-cell carcinoma of the ovary of hypercalcemic type	http://purl.obolibrary.org/obo/DOID_6179	ovarian small cell carcinoma		An ovarian small cell carcinoma that is associated with paraneoplastic hypercalcemia.
http://purl.obolibrary.org/obo/DOID_7664	endometrial mixed adenocarcinoma	http://purl.obolibrary.org/obo/DOID_2870	endometrial adenocarcinoma		An endometrial adenocarcinoma that is composed of both type I (endometrioid) and type II (serous or clear cell type) tumors, with at least 10% of each component.
http://purl.obolibrary.org/obo/DOID_7665	non-gestational ovarian choriocarcinoma	http://purl.obolibrary.org/obo/DOID_5550	choriocarcinoma of ovary		An ovarian primitive germ cell tumor that has_material_basis_in trophoblastic cells and develops in the absence of a preceding gestational event.
http://purl.obolibrary.org/obo/DOID_768	retinoblastoma	http://purl.obolibrary.org/obo/DOID_771	retinal cell cancer		A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina.
http://purl.obolibrary.org/obo/DOID_7693	abdominal aortic aneurysm	http://purl.obolibrary.org/obo/DOID_3627	aortic aneurysm		An aortic aneurysm that is located_in the abdominal aorta.
http://purl.obolibrary.org/obo/DOID_771	retinal cell cancer	http://purl.obolibrary.org/obo/DOID_4645	retinal cancer		A malignant neoplasm that derives_from the retina.
http://purl.obolibrary.org/obo/DOID_7725	epilepsy with generalized tonic-clonic seizures	http://purl.obolibrary.org/obo/DOID_0050705	adolescence-adult electroclinical syndrome		An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type.
http://purl.obolibrary.org/obo/DOID_7747	childhood extraocular retinoblastoma	http://purl.obolibrary.org/obo/DOID_4656	extraocular retinoblastoma		An extraocular retinoblastoma that effects children.
http://purl.obolibrary.org/obo/DOID_7750	adult brain ependymoma	http://purl.obolibrary.org/obo/DOID_7497	brain ependymoma		A brain ependymoma that is characterized by tumor in the ependyma of adults located_in spine, located_in intracranial (4th ventricle) and has_material_basis_in abnormally proliferating cells derives_from ependymal cells.
http://purl.obolibrary.org/obo/DOID_7752	extrahepatic biliary papillomatosis	http://purl.obolibrary.org/obo/DOID_5468	biliary papillomatosis		A biliary papillomatosis located_in an extrahepatic bile duct.
http://purl.obolibrary.org/obo/DOID_7756	neonatal leukemia	http://purl.obolibrary.org/obo/DOID_7757	childhood leukemia		A childhood leukemia that occurs during the neonatal period.
http://purl.obolibrary.org/obo/DOID_7757	childhood leukemia	http://purl.obolibrary.org/obo/DOID_1240	leukemia		A leukemia that occurs in children.
http://purl.obolibrary.org/obo/DOID_7762	childhood multilocular cystic kidney neoplasm	http://purl.obolibrary.org/obo/DOID_3116	kidney benign neoplasm		A kidney benign neoplasm that encompasses cystic nephroma and cystic partially differentiated nephroblastoma.
http://purl.obolibrary.org/obo/DOID_778	delusional disorder	http://purl.obolibrary.org/obo/DOID_2468	psychotic disorder		A psychotic disorder that involves an uncommon psychiatric condition in which patients present with circumscribed symptoms of non-bizarre delusions, but with the absence of prominent hallucinations and no thought disorder, mood disorder, or significant flattening effect.
http://purl.obolibrary.org/obo/DOID_7787	breast osteosarcoma	http://purl.obolibrary.org/obo/DOID_3017	breast sarcoma		A breast sarcoma that arises from bone.
http://purl.obolibrary.org/obo/DOID_7808	necrotic uveal melanoma	http://purl.obolibrary.org/obo/DOID_6039	uveal melanoma		An uveal melanoma characterized by the presence of tumor cell necrosis.
http://purl.obolibrary.org/obo/DOID_7827	adult extraosseous osteosarcoma	http://purl.obolibrary.org/obo/DOID_3357	extraosseous osteosarcoma		An extraosseous osteosarcoma that is located_in the soft tissues without direct attachment to the skeletal system and results in the production of osteoid, bone, or chondroid material.
http://purl.obolibrary.org/obo/DOID_783	end stage renal disease	http://purl.obolibrary.org/obo/DOID_784	chronic kidney disease		A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.
http://purl.obolibrary.org/obo/DOID_7839	infiltrating nipple syringomatous adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		A nipple benign neoplasm that is characterized a as locally infiltrative nonmetastasizing tumor of the nipple.
http://purl.obolibrary.org/obo/DOID_784	chronic kidney disease	http://purl.obolibrary.org/obo/DOID_1074	kidney failure		A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).
http://purl.obolibrary.org/obo/DOID_7841	childhood embryonal tumor with multilayered rosettes, C19MC-altered	http://purl.obolibrary.org/obo/DOID_0080903	embryonal tumor with multilayered rosettes, C19MC-altered		An embryonal tumor with multilayered rosettes, C19MC-altered that occurs during childhood.
http://purl.obolibrary.org/obo/DOID_7843	female breast carcinoma	http://purl.obolibrary.org/obo/DOID_3459	breast carcinoma		A breast carcinoma that is manifested in the female breast.
http://purl.obolibrary.org/obo/DOID_7848	interdigitating dendritic cell sarcoma	http://purl.obolibrary.org/obo/DOID_5621	histiocytic and dendritic cell cancer		A histiocytic and dendritic cell cancer that effect dendritic cells.
http://purl.obolibrary.org/obo/DOID_7849	dendritic cell sarcoma	http://purl.obolibrary.org/obo/DOID_1115	sarcoma		A histiocytic and dendritic cell cancer that is mainly located_in lymph nodes.
http://purl.obolibrary.org/obo/DOID_7878	uterine corpus atypical polypoid adenomyoma	http://purl.obolibrary.org/obo/DOID_4994	adenomyoma of uterine corpus		An atypical polypoid adenomyoma that is located_in the uterine corpus.
http://purl.obolibrary.org/obo/DOID_7880	luteoma	http://purl.obolibrary.org/obo/DOID_0060112	ovarian benign neoplasm		An ovarian benign neoplasm characterized by solid proliferations of luteinized cells, resulting in a tumor-like ovarian enlargement that regresses during the puerperium.
http://purl.obolibrary.org/obo/DOID_7894	mite infestation	http://purl.obolibrary.org/obo/DOID_4110	parasitic ectoparasitic infectious disease		A parasitic ectoparasitic infectious disease that involves infestation of mites belonging to the family Sarcoptidae, Trombiculidae and Demodicidae.
http://purl.obolibrary.org/obo/DOID_7902	adult extraskeletal myxoid chondrosarcoma	http://purl.obolibrary.org/obo/DOID_4549	extraskeletal myxoid chondrosarcoma		An extraskeletal myxoid chondrosarcoma occurring in adults.
http://purl.obolibrary.org/obo/DOID_7910	maxillary sinus squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A squamous cell carcinoma that is located_in the maxillary sinus.
http://purl.obolibrary.org/obo/DOID_7921	mediastinal psammomatous neurilemmoma	http://purl.obolibrary.org/obo/DOID_6175	mediastinal neurilemmoma		A mediastinal neurilemmoma characterized by the presence of psammoma bodies.
http://purl.obolibrary.org/obo/DOID_7945	adult central nervous system mixed germ cell tumor	http://purl.obolibrary.org/obo/DOID_5349	central nervous system adult germ cell tumor		A central nervous system adult germ cell tumor that develops from misfolding and misplacement of embryonic cells into the lateral mesoderm, causing these cells to become entrapped in different areas of the brain, has_material_basis_in abnormally proliferating cells derives_from germ cells.
http://purl.obolibrary.org/obo/DOID_7953	nipple duct carcinoma	http://purl.obolibrary.org/obo/DOID_6629	nipple carcinoma		A nipple carcinoma that is located_in the nipple duct.
http://purl.obolibrary.org/obo/DOID_7961	cervical non-keratinizing squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_3744	cervical squamous cell carcinoma		A cervical squamous cell carcinoma that is characterized by polygonal squamous cells growing in sheets or nests but keratin pearls are not present.
http://purl.obolibrary.org/obo/DOID_7962	tamoxifen-related endometrial lesion	http://purl.obolibrary.org/obo/DOID_1005	endometrial disease		An endometrial disease that is caused by tamoxifen exposure.
http://purl.obolibrary.org/obo/DOID_7983	breast malignant eccrine spiradenoma	http://purl.obolibrary.org/obo/DOID_1612	breast cancer		A breast cancer that arises_from cutaneous sweat glands and is characterized by a focus of benign spiradenoma within or adjacent to the malignant tumor, as evidenced by increased mitotic rate, necrosis, nuclear atypia, pleomorphism, and hyperchromasia, loss of nested and trabecular growth patterns, and absence of a dual cell population.
http://purl.obolibrary.org/obo/DOID_7984	sclerosing breast papilloma	http://purl.obolibrary.org/obo/DOID_1626	breast duct papilloma		A breast duct papilloma that is characterized by a central area of scarring and elastosis, derived from an obliterated duct.
http://purl.obolibrary.org/obo/DOID_799	varicose veins	http://purl.obolibrary.org/obo/DOID_866	vein disease		A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin.
http://purl.obolibrary.org/obo/DOID_8013	penis papillary carcinoma	http://purl.obolibrary.org/obo/DOID_5518	penis squamous cell carcinoma		A papillary carcinoma that is located_in the penis.
http://purl.obolibrary.org/obo/DOID_8022	liver fibrosarcoma	http://purl.obolibrary.org/obo/DOID_270	liver sarcoma		A fibrosarcoma of soft tissue and sarcoma of liver that is located_in the liver.
http://purl.obolibrary.org/obo/DOID_8023	myxoid liposarcoma of the ovary	http://purl.obolibrary.org/obo/DOID_5697	liposarcoma of the ovary		A myxoid liposarcoma that is located_in the ovary.
http://purl.obolibrary.org/obo/DOID_8029	sporadic breast cancer	http://purl.obolibrary.org/obo/DOID_3459	breast carcinoma		A breast carcinoma that occurs in people who do not have a family history of that cancer or an inherited change in their DNA that would increase their risk for that cancer.
http://purl.obolibrary.org/obo/DOID_8036	childhood ovarian embryonal carcinoma	http://purl.obolibrary.org/obo/DOID_5681	ovarian embryonal carcinoma		An ovarian embryonal carcinoma that occurs in childhood.
http://purl.obolibrary.org/obo/DOID_8043	chest wall parachordoma	http://purl.obolibrary.org/obo/DOID_2647	parachordoma		A parachordoma arising from the chest wall.
http://purl.obolibrary.org/obo/DOID_8068	intraductal breast myoepitheliosis	http://purl.obolibrary.org/obo/DOID_7521	breast myoepitheliosis		A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in small ducts.
http://purl.obolibrary.org/obo/DOID_809	cocaine abuse	http://purl.obolibrary.org/obo/DOID_302	substance abuse		A substance abuse that involves the recurring use of cocaine despite negative consequences.
http://purl.obolibrary.org/obo/DOID_8104	vaginal tubulovillous adenoma	http://purl.obolibrary.org/obo/DOID_5402	vaginal adenoma		A vaginal adenoma that is a polyp that resembles colorectal tubulovillous adenoma.
http://purl.obolibrary.org/obo/DOID_8105	extrahepatic bile duct cystadenoma	http://purl.obolibrary.org/obo/DOID_5384	bile duct cystadenoma		A bile duct cystadenoma located_in an extrahepatic bile duct.
http://purl.obolibrary.org/obo/DOID_8117	neuronitis	http://purl.obolibrary.org/obo/DOID_331	central nervous system disease		A central nervous system disease that is characterized by neuron inflammation.
http://purl.obolibrary.org/obo/DOID_8118	mature gastric teratoma	http://purl.obolibrary.org/obo/DOID_5561	gastric teratoma		A mature teratoma that has_material_basis_in gastric tissue.
http://purl.obolibrary.org/obo/DOID_813	septic arthritis	http://purl.obolibrary.org/obo/DOID_848	arthritis		An arthritis that involves infection by a pathogen located_in joint.
http://purl.obolibrary.org/obo/DOID_8130	breast columnar cell mucinous carcinoma	http://purl.obolibrary.org/obo/DOID_3610	breast mucinous carcinoma		A breast mucinous carcinoma that is characterized by tall columnar cells with basal, bland nuclei, intracytoplasmic and extracytoplasmic mucin and is grossly solid.
http://purl.obolibrary.org/obo/DOID_8158	complement component 5 deficiency	http://purl.obolibrary.org/obo/DOID_626	complement deficiency		A complement deficiency that is characterized by susceptibility to recurrent bacterial infections especially to infections of enveloped organisms, and has_material_basis_in mutation in the complement component 5 (C5) gene on chromosome 9q33.2 that encodes the fifth component of complenent, a part of the innate immune system.
http://purl.obolibrary.org/obo/DOID_8161	oncocytic carcinoma of the thyroid	http://purl.obolibrary.org/obo/DOID_3962	follicular thyroid carcinoma		A thyroid gland follicular carcinoma that is characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli.
http://purl.obolibrary.org/obo/DOID_8177	endocervical type cervical adenomyoma	http://purl.obolibrary.org/obo/DOID_4995	cervical adenomyoma		A cervical adenomyoma that is located_in the endocervix and is characterized by a well circumscribed neoplasm composed of irregularly shaped, benign endocervical-type glands, admixed with myomatous smooth muscle.
http://purl.obolibrary.org/obo/DOID_8178	endometrial type cervical adenomyoma	http://purl.obolibrary.org/obo/DOID_4995	cervical adenomyoma		A cervical adenomyoma that is characterized by glands and cysts lined by a single layer of endocervical-type mucinous epithelium admixed with smooth muscle.
http://purl.obolibrary.org/obo/DOID_8179	cervical atypical polypoid adenomyoma	http://purl.obolibrary.org/obo/DOID_4995	cervical adenomyoma		A cervical adenomyoma that is tumor of endometrium, lower uterine segment and endocervix and is characterized by atypical complex glands with squamous metaplasia mixed with myofibromatous stroma.
http://purl.obolibrary.org/obo/DOID_8186	fallopian tube gestational choriocarcinoma	http://purl.obolibrary.org/obo/DOID_2025	gestational choriocarcinoma		A gestational choriocarcinoma that is located_in the fallopian tube.
http://purl.obolibrary.org/obo/DOID_8187	gestational uterine corpus choriocarcinoma	http://purl.obolibrary.org/obo/DOID_8188	uterine corpus choriocarcinoma		A gestational choriocarcinoma that is located_in the uterine corpus.
http://purl.obolibrary.org/obo/DOID_8188	uterine corpus choriocarcinoma	http://purl.obolibrary.org/obo/DOID_9460	uterine corpus cancer		A choriocarcinoma that is located_in the uterine corpus.
http://purl.obolibrary.org/obo/DOID_819	mediastinitis	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A connective tissue disease characterized by inflammation located_in the mediastinum, which extends from the diaphragm to the thoracic inlet and between the pleural cavities.
http://purl.obolibrary.org/obo/DOID_82	myotonic cataract	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that is characterized by multicolored, iridescent opacification of the lens of the eye, and associated with myotonic dystrophy.
http://purl.obolibrary.org/obo/DOID_820	myocarditis	http://purl.obolibrary.org/obo/DOID_3978	extrinsic cardiomyopathy		An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.
http://purl.obolibrary.org/obo/DOID_8211	fallopian tube cystadenofibroma	http://purl.obolibrary.org/obo/DOID_5478	fallopian tube adenofibroma		A fallopian tube adenofibroma that is characterized by the presence of cysts and/or cystic spaces.
http://purl.obolibrary.org/obo/DOID_8223	penile urethral cancer	http://purl.obolibrary.org/obo/DOID_736	male urethral cancer		A male urethral cancer that derives_from the penile urethra.
http://purl.obolibrary.org/obo/DOID_8224	central breast papilloma	http://purl.obolibrary.org/obo/DOID_1626	breast duct papilloma		A breast duct papilloma that is located_in a major duct.
http://purl.obolibrary.org/obo/DOID_8227	atypical breast papilloma	http://purl.obolibrary.org/obo/DOID_1626	breast duct papilloma		A breast duct papilloma that is characterized by the presence of cells that are abnormal but are not yet malignant.
http://purl.obolibrary.org/obo/DOID_8230	intrahepatic biliary papillomatosis	http://purl.obolibrary.org/obo/DOID_5468	biliary papillomatosis		A biliary papillomatosis located_in an intrahepatic bile duct.
http://purl.obolibrary.org/obo/DOID_8243	meningeal melanomatosis	http://purl.obolibrary.org/obo/DOID_4955	central nervous system melanocytic neoplasm		A central nervous system melanocytic neoplasm that is characterized as an extra-axial well-encapsulated malignant tumour with diffuse meningeal growth and dark coloration (due to high melanin contents).
http://purl.obolibrary.org/obo/DOID_8252	chronic rhinitis	http://purl.obolibrary.org/obo/DOID_4483	rhinitis		A rhinitis which is persistent and long-lasting. It may occur with diseases such as syphilis, tuberculosis, rhinoscleroma, rhinosporidiosis, leishmaniasis, blastomycosis, histoplasmosis, and leprosy, all of which are characterized by the formation of inflamed lesions (granulomas) and the destruction of soft tissue, cartilage, and bone. Chronic rhinitis causes nasal obstruction, pus-filled discharge from the nose, and frequent bleeding.
http://purl.obolibrary.org/obo/DOID_8259	bulbomembranous urethral cancer	http://purl.obolibrary.org/obo/DOID_736	male urethral cancer		A male urethral cancer that derives_from the bulbomembranous part of the urethra.
http://purl.obolibrary.org/obo/DOID_827	ureter tuberculosis	http://purl.obolibrary.org/obo/DOID_2149	urogenital tuberculosis		An urogenital tuberculosis that is located_in ureter resulting in ureteral strictures.
http://purl.obolibrary.org/obo/DOID_8272	anterior urethra cancer	http://purl.obolibrary.org/obo/DOID_738	female urethral cancer		A female urethral cancer located_in the anterior urethra.
http://purl.obolibrary.org/obo/DOID_8275	intratubular embryonal carcinoma	http://purl.obolibrary.org/obo/DOID_5680	embryonal testis carcinoma		An embryonal testis carcinoma that is located within a tubule.
http://purl.obolibrary.org/obo/DOID_8302	mixed endometrial stromal and smooth muscle tumor	http://purl.obolibrary.org/obo/DOID_9460	uterine corpus cancer		A uterine corpus cancer that has_material_basis_in endometrial stroma and smooth muscle cells.
http://purl.obolibrary.org/obo/DOID_8304	lymph node palisaded myofibroblastoma	http://purl.obolibrary.org/obo/DOID_0080617	lymph node benign neoplasm		A lymph node benign neoplasm that is composed of myoid or myofibroblastic spindle cells, with focal palisading and so-called amianthoid fibers.
http://purl.obolibrary.org/obo/DOID_8307	early invasive cervical adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3702	cervical adenocarcinoma		A cervical adenocarcinoma that is characterized by tumor cells that are identical to those in adenocarcinoma in situ (ACIS) and microscopic findings that suggest invasion.
http://purl.obolibrary.org/obo/DOID_8310	sclerosing adenosis of breast	http://purl.obolibrary.org/obo/DOID_3274	proliferative type fibrocystic change of breast		A proliferative type fibrocystic change of breast that is characterized by enlarged lobules that are distorted by scar-like tissue and excess glandular tissue.
http://purl.obolibrary.org/obo/DOID_833	auditory system cancer	http://purl.obolibrary.org/obo/DOID_2742	auditory system disease		An organ system cancer located_in the ear and characterized by uncontrolled cellular proliferation of the auditory organs.
http://purl.obolibrary.org/obo/DOID_8336	childhood choriocarcinoma of the ovary	http://purl.obolibrary.org/obo/DOID_5550	choriocarcinoma of ovary		A choriocarcinoma of the ovary that is present during childhood.
http://purl.obolibrary.org/obo/DOID_8337	appendicitis	http://purl.obolibrary.org/obo/DOID_60000	appendix disease		An appendix disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever.
http://purl.obolibrary.org/obo/DOID_8338	villoglandular variant cervical mucinous adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3701	cervical mucinous adenocarcinoma		A cervical mucinous adenocarcinoma that is characterized by a dominant pattern of well differentiated, thin and simple papillary structures without broad, fibrovascular cores.
http://purl.obolibrary.org/obo/DOID_8339	intestinal variant cervical mucinous adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3701	cervical mucinous adenocarcinoma		A cervical mucinous adenocarcinoma that is characterized by areas of intestinal type differentiation.
http://purl.obolibrary.org/obo/DOID_8340	endocervical type cervical mucinous adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3701	cervical mucinous adenocarcinoma		A cervical mucinous adenocarcinoma characterized by the presence of malignant glandular cells that resemble those of the endocervix.
http://purl.obolibrary.org/obo/DOID_8352	aortic malignant tumor	http://purl.obolibrary.org/obo/DOID_520	aortic disease		A vascular cancer that is located_in the aorta.
http://purl.obolibrary.org/obo/DOID_8354	complement component 3 deficiency	http://purl.obolibrary.org/obo/DOID_626	complement deficiency		A complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and has_material_basis_in autosomal recessive inheritance of mutation in the C3 gene on chromosome 19p13.3, has_symptom recurrent bacterial infections.
http://purl.obolibrary.org/obo/DOID_8361	glassy cell variant cervical adenosquamous carcinoma	http://purl.obolibrary.org/obo/DOID_5636	cervical adenosquamous carcinoma		A cervical adenosquamous carcinoma that is a rare form and is composed of cells with a glass-like cytoplasm.
http://purl.obolibrary.org/obo/DOID_8368	chordoid meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		A meningioma that is characterized by the predominance of tissues that are histologically similar to chordoma.
http://purl.obolibrary.org/obo/DOID_8398	osteoarthritis	http://purl.obolibrary.org/obo/DOID_848	arthritis		An arthritis that has_material_basis_in worn out cartilage located_in joint.
http://purl.obolibrary.org/obo/DOID_8399	trombiculiasis	http://purl.obolibrary.org/obo/DOID_7894	mite infestation		A mite infestation that involves rash caused by Leptotrombidium deliense.
http://purl.obolibrary.org/obo/DOID_84	osteochondritis dissecans	http://purl.obolibrary.org/obo/DOID_0080008	ischemic bone disease		An ischemic bone disease that results_in necrosis located_in epiphysis.
http://purl.obolibrary.org/obo/DOID_840	cork-handlers' disease	http://purl.obolibrary.org/obo/DOID_841	extrinsic allergic alveolitis		An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia.
http://purl.obolibrary.org/obo/DOID_8408	Meckel's diverticulitis	http://purl.obolibrary.org/obo/DOID_7475	diverticulitis		A diverticulits characterized by the inflammation of a congenital diverticulum, which is a slight bulge of the small intestine present at birth.
http://purl.obolibrary.org/obo/DOID_8409	microinvasive cervical squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_3744	cervical squamous cell carcinoma		A cervical squamous cell carcinoma that is characterized by invasion which diagnosed by microscopy only. Invasion is limited to measured stromal invasion with a maximum depth of 5_mm and no wider than 7_mm diameter.
http://purl.obolibrary.org/obo/DOID_8428	breast apocrine carcinoma in situ	http://purl.obolibrary.org/obo/DOID_8791	breast carcinoma in situ		A breast carcinoma in situ that is characterized by abundant eosinophilic apocrine cytoplasm and large nuclei. It is a variant of ductal carcinoma in situ of the breast.
http://purl.obolibrary.org/obo/DOID_8438	afferent loop syndrome	http://purl.obolibrary.org/obo/DOID_8439	postgastrectomy syndrome		A postgastrectomy syndrome that is characterized by obstruction of the afferent loop that arises after gastric surgery with gastrojejunostomy reconstruction.
http://purl.obolibrary.org/obo/DOID_8443	brachial plexus lesion	http://purl.obolibrary.org/obo/DOID_3690	brachial plexus neuropathy		A brachial plexus neuropathy characterized by an abnormality, usually caused by disease or trauma, located in the brachial plexus.
http://purl.obolibrary.org/obo/DOID_8445	intestinal volvulus	http://purl.obolibrary.org/obo/DOID_8437	intestinal obstruction		An intestinal obstruction characterized by abnormal rotation of the intestines.
http://purl.obolibrary.org/obo/DOID_845	cyclothymic disorder	http://purl.obolibrary.org/obo/DOID_3312	bipolar disorder		A bipolar disorder that involves recurrent hypomanic and dysthymic episodes, but no full manic episodes or full major depressive episodes.
http://purl.obolibrary.org/obo/DOID_8454	riboflavin deficiency	http://purl.obolibrary.org/obo/DOID_5113	nutritional deficiency disease		A nutritional deficiency disease that is characterized by stomatitis, cheilosis, glossitis, conjunctivitis, and anemia, develops_from vitamin B2 (riboflavin) deficiency, has_symptom red chapped lips, painful swollen tongue, sore throat, blurred vision, and fatigue, and has_material_basis_in inadequate intake, endocrine disorder, liver disorder, alcoholism, and dialysis.
http://purl.obolibrary.org/obo/DOID_8455	pyridoxine deficiency anemia	http://purl.obolibrary.org/obo/DOID_5113	nutritional deficiency disease		A nutritional deficiency disease that is characterized by normocytic anemia associated with deficiency of pyridoxine (vitamin B6), and has_material_basis_in decreased intake, malabsorption, increased clearance or breakdown, and certain medications (eg isoniazid).
http://purl.obolibrary.org/obo/DOID_8456	choline deficiency disease	http://purl.obolibrary.org/obo/DOID_5113	nutritional deficiency disease		A nutritional deficiency disease that is characterized by deficiency of choline, which has been associated with development of fatty liver, and possibly has_material_basis_in inadequate intake and exacerbated by a genetic predisposition.
http://purl.obolibrary.org/obo/DOID_8457	pellagra	http://purl.obolibrary.org/obo/DOID_5113	nutritional deficiency disease		A nutritional deficiency disease that is characterized by deficiency of niacin (vitamin B3), has_symptom gastrointestinal disturbance, anorexia, diarrhea, dementia, hallucinations, depression, psychosis, and/or non-specific skin changes, and has_material_basis_in deficiency of niacin, often from inadequate diet, malabsorption, or medication side effects.
http://purl.obolibrary.org/obo/DOID_8461	Aicardi syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye.
http://purl.obolibrary.org/obo/DOID_8478	actinomycosis	http://purl.obolibrary.org/obo/DOID_1579	respiratory system disease		A commensal bacterial infectious disease that results in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures.
http://purl.obolibrary.org/obo/DOID_8484	maple bark strippers' lung	http://purl.obolibrary.org/obo/DOID_850	lung disease		An opportunistic mycosis that is located_in lungs caused by inhalation of fungal spores while stripping the bark from maple logs, has_material_basis_in Cryptostroma corticale.
http://purl.obolibrary.org/obo/DOID_8485	mucormycosis	http://purl.obolibrary.org/obo/DOID_2473	opportunistic mycosis		An opportunistic mycosis that results_in fungal infection located_in sinuses, located_in brain, or located_in lungs of immunocompromised people, has_material_basis_in Mucorales molds.
http://purl.obolibrary.org/obo/DOID_8488	polyhydramnios	http://purl.obolibrary.org/obo/DOID_780	placenta disease		A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac.
http://purl.obolibrary.org/obo/DOID_849	rheumatoid arthritis interstitial lung disease	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		An interstitial lung disease that is characterized by the development of pleuroparenchymal disease secondary to rheumatoid arthritis, including pleural effusions, pleural fibrosis, pulmonary vascular disease, and airway complications.
http://purl.obolibrary.org/obo/DOID_8503	impetigo herpetiformis	http://purl.obolibrary.org/obo/DOID_8504	impetigo		An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy.
http://purl.obolibrary.org/obo/DOID_8506	bullous pemphigoid	http://purl.obolibrary.org/obo/DOID_0080841	pemphigoid		A pemphigoid that is characterized by large blisters.
http://purl.obolibrary.org/obo/DOID_851	Bartholin's duct cyst	http://purl.obolibrary.org/obo/DOID_60002	Bartholin's gland disease		A female reproductive system disease that is characterized by a fluid-filled swelling in the Bartholin's glands.
http://purl.obolibrary.org/obo/DOID_8519	barbiturate abuse	http://purl.obolibrary.org/obo/DOID_302	substance abuse		A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences.
http://purl.obolibrary.org/obo/DOID_8527	monocytic leukemia	http://purl.obolibrary.org/obo/DOID_8692	myeloid leukemia		A myeloid leukemia that is characterized by a dominance of monocytes in the marrow.
http://purl.obolibrary.org/obo/DOID_8529	ulcer of lower limbs	http://purl.obolibrary.org/obo/DOID_8549	chronic ulcer of skin		A chronic ulcer of skin where the ulcer is not a decubitus ulcer.
http://purl.obolibrary.org/obo/DOID_853	polymyalgia rheumatica	http://purl.obolibrary.org/obo/DOID_854	collagen disease		A collagen disease that is characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck.
http://purl.obolibrary.org/obo/DOID_8533	hypopharynx cancer	http://purl.obolibrary.org/obo/DOID_0060119	pharynx cancer		A pharynx cancer that is located_in the hypopharynx.
http://purl.obolibrary.org/obo/DOID_8536	herpes zoster	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3 (Varicellovirus humanalpha3), which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia.
http://purl.obolibrary.org/obo/DOID_8544	chronic fatigue syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions.
http://purl.obolibrary.org/obo/DOID_8545	malignant hyperthermia	http://purl.obolibrary.org/obo/DOID_66	muscle tissue disease		A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine).
http://purl.obolibrary.org/obo/DOID_8557	oropharynx cancer	http://purl.obolibrary.org/obo/DOID_0060119	pharynx cancer		A pharynx cancer that is located_in the oropharynx.
http://purl.obolibrary.org/obo/DOID_856	biotinidase deficiency	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A multiple carboxylase deficiency that involves a deficiency in biotinidase as the body is not able to use biotin and results in biotin deficiency, and has_material_basis_in homozygous or compound heterozygous mutation in the BTD gene on chromosome 3p25.
http://purl.obolibrary.org/obo/DOID_8566	herpes simplex	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2), which are transmitted_by direct contact with an active lesion or body fluid of an infected person.
http://purl.obolibrary.org/obo/DOID_8567	Hodgkin's lymphoma	http://purl.obolibrary.org/obo/DOID_0060058	lymphoma		A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.
http://purl.obolibrary.org/obo/DOID_8568	infectious mononucleosis	http://purl.obolibrary.org/obo/DOID_2938	Epstein-Barr virus infectious disease		A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 (Lymphocryptovirus humangamma4) and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly.
http://purl.obolibrary.org/obo/DOID_857	multiple carboxylase deficiency	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder that involves failures of carboxylation enzymes.
http://purl.obolibrary.org/obo/DOID_8577	ulcerative colitis	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.
http://purl.obolibrary.org/obo/DOID_8584	Burkitt lymphoma	http://purl.obolibrary.org/obo/DOID_706	mature B-cell neoplasm		A mature B-cell neoplasm of B-cells found in the germinal center.
http://purl.obolibrary.org/obo/DOID_859	holocarboxylase synthetase deficiency	http://purl.obolibrary.org/obo/DOID_857	multiple carboxylase deficiency		A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase.
http://purl.obolibrary.org/obo/DOID_8596	scarlet fever	http://purl.obolibrary.org/obo/DOID_974	upper respiratory tract disease		An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash.
http://purl.obolibrary.org/obo/DOID_8607	herpetic whitlow	http://purl.obolibrary.org/obo/DOID_8566	herpes simplex		A herpes simplex that results_in infection located_in skin of the finger, toe, or thumb, has_material_basis_in Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2) and has_symptom lesions, has_symptom fever, and has_symptom swollen lymph nodes.
http://purl.obolibrary.org/obo/DOID_8622	measles	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus (Morbillivirus hominis), which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash.
http://purl.obolibrary.org/obo/DOID_8632	Kaposi's sarcoma	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (Rhadinovirus humangamma8).
http://purl.obolibrary.org/obo/DOID_8634	prostate carcinoma in situ	http://purl.obolibrary.org/obo/DOID_8719	in situ carcinoma		An in situ carcinoma that is located_in the prostate.
http://purl.obolibrary.org/obo/DOID_864	phlebitis	http://purl.obolibrary.org/obo/DOID_866	vein disease		A vein disease that is characterized by inflammation of a vein.
http://purl.obolibrary.org/obo/DOID_8659	chickenpox	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3 (Varicellovirus humanalpha3), which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters.
http://purl.obolibrary.org/obo/DOID_8661	lip carcinoma in situ	http://purl.obolibrary.org/obo/DOID_9297	lip disease		An oral cavity carcinoma in situ that is located_in the lip.
http://purl.obolibrary.org/obo/DOID_867	maxillary sinus cholesteatoma	http://purl.obolibrary.org/obo/DOID_869	cholesteatoma		A cholesteatoma located_in paranasal sinus.
http://purl.obolibrary.org/obo/DOID_8672	viral exanthem	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		An exanthem that has_material_basis_in viruses.
http://purl.obolibrary.org/obo/DOID_8687	skin carcinoma in situ	http://purl.obolibrary.org/obo/DOID_8719	in situ carcinoma		A carcinoma in situ that is characterized by the spread of cancer in skin and the lack of invasion of surrounding tissues.
http://purl.obolibrary.org/obo/DOID_8689	anorexia nervosa	http://purl.obolibrary.org/obo/DOID_8670	eating disorder		An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image.
http://purl.obolibrary.org/obo/DOID_8692	myeloid leukemia	http://purl.obolibrary.org/obo/DOID_1240	leukemia		A leukemia that is located_in myeloid tissue.
http://purl.obolibrary.org/obo/DOID_8704	genital herpes	http://purl.obolibrary.org/obo/DOID_8566	herpes simplex		A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2), which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands.
http://purl.obolibrary.org/obo/DOID_8717	decubitus ulcer	http://purl.obolibrary.org/obo/DOID_8549	chronic ulcer of skin		A chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure.
http://purl.obolibrary.org/obo/DOID_8725	vascular dementia	http://purl.obolibrary.org/obo/DOID_1307	dementia		A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.
http://purl.obolibrary.org/obo/DOID_8729	milker's nodule	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus (Parapoxvirus pseudocowpox), which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy.
http://purl.obolibrary.org/obo/DOID_873	anaerobic pneumonia	http://purl.obolibrary.org/obo/DOID_0050152	aspiration pneumonia		An aspiration pneumonia caused by anaerobic bacteria like Bacteroides fragilis, Peptostreptococcus, anaerobic streptococci, Fusobacterium species (Fusobacterium nucleatum and Fusobacterium necrophoram). Lung abscess and empyema are diagnosed in this disease.
http://purl.obolibrary.org/obo/DOID_8731	carotid body cancer	http://purl.obolibrary.org/obo/DOID_175	vascular cancer		A vascular cancer that is characterized by an encapsulated, firm round mass at the bifurcation of the common carotid artery.
http://purl.obolibrary.org/obo/DOID_8741	seborrheic dermatitis	http://purl.obolibrary.org/obo/DOID_2723	dermatitis		A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss.
http://purl.obolibrary.org/obo/DOID_8743	erythema infectiosum	http://purl.obolibrary.org/obo/DOID_8672	viral exanthem		A viral exanthem that has_material_basis_in Human parvovirus B19 (Erythroparvovirus primate1).
http://purl.obolibrary.org/obo/DOID_8761	acute megakaryocytic leukemia	http://purl.obolibrary.org/obo/DOID_9119	acute myeloid leukemia		An acute myeloid leukemia that derives from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers.
http://purl.obolibrary.org/obo/DOID_8771	contagious pustular dermatitis	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus (Parapoxvirus orf), which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis.
http://purl.obolibrary.org/obo/DOID_8781	rubella	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in infection located_in skin, has_material_basis_in Rubella virus (Rubivirus rubellae), which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom rash on the face which spreads to the trunk and limbs, has_symptom fever, has_symptom lymphadenopathy, has_symptom joint pains, has_symptom headache, and has_symptom conjunctivitis.
http://purl.obolibrary.org/obo/DOID_8792	eye carcinoma in situ	http://purl.obolibrary.org/obo/DOID_8719	in situ carcinoma		A carcinoma in situ that is characterized by the spread of cancer in the eye and the lack of invasion of surrounding tissues.
http://purl.obolibrary.org/obo/DOID_8800	lung carcinoma in situ	http://purl.obolibrary.org/obo/DOID_8719	in situ carcinoma		An in situ carcinoma that is located_in the lung.
http://purl.obolibrary.org/obo/DOID_8802	trachea carcinoma in situ	http://purl.obolibrary.org/obo/DOID_8719	in situ carcinoma		An in situ carcinoma that is located_in the trachea.
http://purl.obolibrary.org/obo/DOID_882	heterophyiasis	http://purl.obolibrary.org/obo/DOID_936	brain disease		A parasitic helminthiasis infectious disease that involves intestinal infection by the parasite of the genus Heterophyes. The symptoms are diarrhea and colicky abdominal pain. Migration of the eggs to the heart, results in fatal myocardial and valvular damage. Brain can also be infected.
http://purl.obolibrary.org/obo/DOID_8826	colon carcinoma in situ	http://purl.obolibrary.org/obo/DOID_5353	colonic disease		An intestine carcinoma in situ that is located_in the colon.
http://purl.obolibrary.org/obo/DOID_884	metagonimiasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Metagonimus yokogawai. The symptoms are diarrhea and colicky abdominal pain. The heart and brain can also be infected.
http://purl.obolibrary.org/obo/DOID_885	fascioliasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hepatomegaly, fever, vomiting, diarrhea, urticaria and eosinophilia. Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa.
http://purl.obolibrary.org/obo/DOID_8867	molluscum contagiosum	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus (Molluscipoxvirus molluscum), which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center.
http://purl.obolibrary.org/obo/DOID_8869	neuromyelitis optica	http://purl.obolibrary.org/obo/DOID_319	spinal cord disease		A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).
http://purl.obolibrary.org/obo/DOID_8872	penis carcinoma in situ	http://purl.obolibrary.org/obo/DOID_8719	in situ carcinoma		An in situ carcinoma that is located_in the penis.
http://purl.obolibrary.org/obo/DOID_888	fasciolopsiasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Fasciolopsis buski. The symptoms include diarrhea, abdominal pain, fever, ascites, anasarca and intestinal obstruction.
http://purl.obolibrary.org/obo/DOID_8892	pityriasis rosea	http://purl.obolibrary.org/obo/DOID_2723	dermatitis		A dermatitis that is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs.
http://purl.obolibrary.org/obo/DOID_8893	psoriasis	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A skin disease that is characterized by patches of thick red skin and silvery scales.
http://purl.obolibrary.org/obo/DOID_891	progressive myoclonus epilepsy	http://purl.obolibrary.org/obo/DOID_0050706	variable age at onset electroclinical syndrome		A variable age at onset electroclinical syndrome characterized by a relentlessly progressive disease course until death.
http://purl.obolibrary.org/obo/DOID_8912	tinea nigra	http://purl.obolibrary.org/obo/DOID_0050133	superficial mycosis		A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions.
http://purl.obolibrary.org/obo/DOID_8920	leukoplakia of vagina	http://purl.obolibrary.org/obo/DOID_121	vaginal disease		A vaginal disease that is a precancerous lesion that is characterized by the presence of white plaques which cannot be rubbed off. Histology shows increased keratin.
http://purl.obolibrary.org/obo/DOID_8924	autoimmune thrombocytopenic purpura	http://purl.obolibrary.org/obo/DOID_8925	primary thrombocytopenia		A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies.
http://purl.obolibrary.org/obo/DOID_893	Wilson disease	http://purl.obolibrary.org/obo/DOID_896	metal metabolism disorder		A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes.
http://purl.obolibrary.org/obo/DOID_8936	plantar fascial fibromatosis	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A connective tissue disease characterized by progressive fibrosis and thickening located_in the palmar fascia and has_symptom early painless nodules, has_symptom decreased range of motion, has_symptom weakened grip, and has_symptom eventual contracture.
http://purl.obolibrary.org/obo/DOID_8941	seborrheic infantile dermatitis	http://purl.obolibrary.org/obo/DOID_8741	seborrheic dermatitis		A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp.
http://purl.obolibrary.org/obo/DOID_8943	lattice corneal dystrophy	http://purl.obolibrary.org/obo/DOID_0060441	epithelial-stromal TGFBI dystrophy		An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and lattice line refractile and fleck-like opacification located_in the cornea, amyloid deposits beginning in the anterior stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased amyloid protein deposition and disruption of the corneal surface.
http://purl.obolibrary.org/obo/DOID_8956	cowpox	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus (Orthopoxvirus cowpox), which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face.
http://purl.obolibrary.org/obo/DOID_8970	subacute sclerosing panencephalitis	http://purl.obolibrary.org/obo/DOID_646	viral encephalitis		A viral encephalitis that has_material_basis_in persistent central nervous system infection of the wild-type measles virus (Morbillivirus hominis) characterized by onset of personality or behavioral changes and intellectual deterioriation years after initial infection, followed by progressive decline in motor function, akinetic mutism or coma, and death. Higher incidence or shorter latency periods may be observed in those initially infected under the age of 2 or in cases of intrafamilial transmission.
http://purl.obolibrary.org/obo/DOID_8986	narcolepsy	http://purl.obolibrary.org/obo/DOID_535	sleep disorder		A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work.
http://purl.obolibrary.org/obo/DOID_899	choledochal cyst	http://purl.obolibrary.org/obo/DOID_4138	bile duct disease		A bile duct disease characterized by cystic dilation of one or more extrahepatic or intrahepatic bile ducts.
http://purl.obolibrary.org/obo/DOID_8991	cervix uteri carcinoma in situ	http://purl.obolibrary.org/obo/DOID_2253	cervix disease		An uterus carcinoma in situ that is located_in the uterine cervix.
http://purl.obolibrary.org/obo/DOID_8997	polycythemia vera	http://purl.obolibrary.org/obo/DOID_2226	myeloproliferative neoplasm		A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly.
http://purl.obolibrary.org/obo/DOID_90	degenerative disc disease	http://purl.obolibrary.org/obo/DOID_0080007	bone deterioration disease		A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc.
http://purl.obolibrary.org/obo/DOID_9007	sudden infant death syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation.
http://purl.obolibrary.org/obo/DOID_9008	psoriatic arthritis	http://purl.obolibrary.org/obo/DOID_848	arthritis		An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis.
http://purl.obolibrary.org/obo/DOID_9011	larynx carcinoma in situ	http://purl.obolibrary.org/obo/DOID_8719	in situ carcinoma		An in situ carcinoma that is located_in the larynx.
http://purl.obolibrary.org/obo/DOID_9024	intestine carcinoma in situ	http://purl.obolibrary.org/obo/DOID_8719	in situ carcinoma		An in situ carcinoma that is located_in the intestine.
http://purl.obolibrary.org/obo/DOID_9043	uterine cervix leukoplakia	http://purl.obolibrary.org/obo/DOID_2253	cervix disease		A cervix disease that is characterized by the presence of a hyperkeratotic lesion.
http://purl.obolibrary.org/obo/DOID_905	Zellweger syndrome	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes.
http://purl.obolibrary.org/obo/DOID_9053	bladder carcinoma in situ	http://purl.obolibrary.org/obo/DOID_8719	in situ carcinoma		An in situ carcinoma that is located_in the bladder.
http://purl.obolibrary.org/obo/DOID_9060	pityriasis versicolor	http://purl.obolibrary.org/obo/DOID_0050133	superficial mycosis		A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales.
http://purl.obolibrary.org/obo/DOID_9063	Ritter's disease	http://purl.obolibrary.org/obo/DOID_37	skin disease		A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptom redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability.
http://purl.obolibrary.org/obo/DOID_9065	leishmaniasis	http://purl.obolibrary.org/obo/DOID_2789	parasitic protozoa infectious disease		A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae).
http://purl.obolibrary.org/obo/DOID_9074	systemic lupus erythematosus	http://purl.obolibrary.org/obo/DOID_8857	lupus erythematosus		A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.
http://purl.obolibrary.org/obo/DOID_9087	anal carcinoma in situ	http://purl.obolibrary.org/obo/DOID_8719	in situ carcinoma		An in situ carcinoma that is located_in the anus.
http://purl.obolibrary.org/obo/DOID_9091	REM sleep behavior disorder	http://purl.obolibrary.org/obo/DOID_535	sleep disorder		A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement.
http://purl.obolibrary.org/obo/DOID_9095	esophagus carcinoma in situ	http://purl.obolibrary.org/obo/DOID_8719	in situ carcinoma		An in situ carcinoma that is located_in the esophagus.
http://purl.obolibrary.org/obo/DOID_9098	sebaceous gland disease	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease that is located_in the sebaceous gland.
http://purl.obolibrary.org/obo/DOID_9108	uterus carcinoma in situ	http://purl.obolibrary.org/obo/DOID_8719	in situ carcinoma		An in situ carcinoma that is located_in the uterus.
http://purl.obolibrary.org/obo/DOID_9111	cutaneous leishmaniasis	http://purl.obolibrary.org/obo/DOID_37	skin disease		A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.
http://purl.obolibrary.org/obo/DOID_9123	eczema herpeticum	http://purl.obolibrary.org/obo/DOID_37	skin disease		A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2). The infection has_symptom watery blisters, has_symptom fever, and has_symptom swelling of the lymph nodes.
http://purl.obolibrary.org/obo/DOID_9132	liver carcinoma in situ	http://purl.obolibrary.org/obo/DOID_8719	in situ carcinoma		An in situ carcinoma that is located_in the liver.
http://purl.obolibrary.org/obo/DOID_9138	stomach carcinoma in situ	http://purl.obolibrary.org/obo/DOID_8719	in situ carcinoma		An in situ carcinoma that is located_in the stomach.
http://purl.obolibrary.org/obo/DOID_9146	visceral leishmaniasis	http://purl.obolibrary.org/obo/DOID_409	liver disease		A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver.
http://purl.obolibrary.org/obo/DOID_9153	variola minor	http://purl.obolibrary.org/obo/DOID_8736	smallpox		A smallpox that results_in milder infection, located_in skin, has_material_basis_in Variola virus (Orthopoxvirus variola). The infection results_in_formation_of lesions.
http://purl.obolibrary.org/obo/DOID_9155	mucocutaneous leishmaniasis	http://purl.obolibrary.org/obo/DOID_974	upper respiratory tract disease		A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa.
http://purl.obolibrary.org/obo/DOID_9159	gas gangrene	http://purl.obolibrary.org/obo/DOID_0080000	muscular disease		A commensal bacterial infectious disease that results in infection, located in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has symptom large blisters, has symptom pain in the infected area, has symptom myonecrosis, has symptom gas production, and has symptom sepsis.
http://purl.obolibrary.org/obo/DOID_9164	achalasia	http://purl.obolibrary.org/obo/DOID_6050	esophageal disease		An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing.
http://purl.obolibrary.org/obo/DOID_9169	Wiskott-Aldrich syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by abnormal immune system function and a reduced ability to form blood clots resulting from a decrease in the number and size of blood cell fragments involved in clotting (microthrombocytopenia).
http://purl.obolibrary.org/obo/DOID_9174	rectum carcinoma in situ	http://purl.obolibrary.org/obo/DOID_8719	in situ carcinoma		An in situ carcinoma that is located_in the rectum.
http://purl.obolibrary.org/obo/DOID_9181	amebiasis	http://purl.obolibrary.org/obo/DOID_2789	parasitic protozoa infectious disease		A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs.
http://purl.obolibrary.org/obo/DOID_92	speech disorder	http://purl.obolibrary.org/obo/DOID_2033	communication disorder		A communication disorder that involves difficulty with the act of speech production.
http://purl.obolibrary.org/obo/DOID_9201	lichen planus	http://purl.obolibrary.org/obo/DOID_8574	lichen disease		A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes.
http://purl.obolibrary.org/obo/DOID_9206	Barrett's esophagus	http://purl.obolibrary.org/obo/DOID_6050	esophageal disease		An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium.
http://purl.obolibrary.org/obo/DOID_9207	periodic limb movement disorder	http://purl.obolibrary.org/obo/DOID_535	sleep disorder		A sleep disorder that involves involuntary limb movement during sleep.
http://purl.obolibrary.org/obo/DOID_9210	Ramsay Hunt syndrome	http://purl.obolibrary.org/obo/DOID_1756	facial nerve disease		A herpes zoster that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3 (Varicellovirus humanalpha3), which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache.
http://purl.obolibrary.org/obo/DOID_9212	pityriasis rubra pilaris	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease that is characterized by hyperkeratotic follicular papules coalescing into orange-red scaly plaques, islands of sparing, and palmoplantar keratoderma.
http://purl.obolibrary.org/obo/DOID_9220	central sleep apnea	http://purl.obolibrary.org/obo/DOID_0050847	sleep apnea		A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing.
http://purl.obolibrary.org/obo/DOID_9230	pompholyx	http://purl.obolibrary.org/obo/DOID_1383	sweat gland disease		A sweat gland disease that is characterized by recurrent vesicles and bullae that develop particularly upon the lateral palms, soles, and fingers and has_symptom pruritis and cracked skin.
http://purl.obolibrary.org/obo/DOID_9234	kidney carcinoma in situ	http://purl.obolibrary.org/obo/DOID_8719	in situ carcinoma		An in situ carcinoma that is located_in the kidney.
http://purl.obolibrary.org/obo/DOID_9240	erythromelalgia	http://purl.obolibrary.org/obo/DOID_870	neuropathy		A neuropathy that is characterized by intense, burning pain of affected extremities, severe redness and increased skin temperature.
http://purl.obolibrary.org/obo/DOID_9245	Alagille syndrome	http://purl.obolibrary.org/obo/DOID_409	liver disease		A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts.
http://purl.obolibrary.org/obo/DOID_9246	cerebral amyloid angiopathy	http://purl.obolibrary.org/obo/DOID_9120	amyloidosis		An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia.
http://purl.obolibrary.org/obo/DOID_9248	Pallister-Hall syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14.
http://purl.obolibrary.org/obo/DOID_9249	Beemer-Langer syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly.
http://purl.obolibrary.org/obo/DOID_9250	acrocallosal syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation.
http://purl.obolibrary.org/obo/DOID_9254	mast-cell leukemia	http://purl.obolibrary.org/obo/DOID_1240	leukemia		A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood.
http://purl.obolibrary.org/obo/DOID_9258	Waardenburg syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes.
http://purl.obolibrary.org/obo/DOID_9261	nasopharynx carcinoma	http://purl.obolibrary.org/obo/DOID_9561	nasopharyngeal disease		A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.
http://purl.obolibrary.org/obo/DOID_9263	homocystinuria	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.
http://purl.obolibrary.org/obo/DOID_9266	cystinuria	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder.
http://purl.obolibrary.org/obo/DOID_9267	urea cycle disorder	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream.
http://purl.obolibrary.org/obo/DOID_9268	glycine encephalopathy	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues.
http://purl.obolibrary.org/obo/DOID_9269	maple syrup urine disease	http://purl.obolibrary.org/obo/DOID_0060159	organic acidemia		An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures.
http://purl.obolibrary.org/obo/DOID_9270	alkaptonuria	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct.
http://purl.obolibrary.org/obo/DOID_9271	ornithine carbamoyltransferase deficiency	http://purl.obolibrary.org/obo/DOID_9267	urea cycle disorder		An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.
http://purl.obolibrary.org/obo/DOID_9273	citrullinemia	http://purl.obolibrary.org/obo/DOID_9267	urea cycle disorder		An inherited urea cycle disorder that involves the accumulation of ammonia and other toxic substances in the blood.
http://purl.obolibrary.org/obo/DOID_9274	hyperlysinemia	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood.
http://purl.obolibrary.org/obo/DOID_9278	hyperargininemia	http://purl.obolibrary.org/obo/DOID_9267	urea cycle disorder		An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine.
http://purl.obolibrary.org/obo/DOID_9279	hyperhomocysteinemia	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.
http://purl.obolibrary.org/obo/DOID_9280	carbamoyl phosphate synthetase I deficiency disease	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A urea cycle disorder that involves accumulation of ammonia in the blood.
http://purl.obolibrary.org/obo/DOID_9281	phenylketonuria	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.
http://purl.obolibrary.org/obo/DOID_9282	ocular hypertension	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss.
http://purl.obolibrary.org/obo/DOID_9286	priapism	http://purl.obolibrary.org/obo/DOID_341	peripheral vascular disease		A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain.
http://purl.obolibrary.org/obo/DOID_9296	cleft lip	http://purl.obolibrary.org/obo/DOID_9297	lip disease		An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences.
http://purl.obolibrary.org/obo/DOID_9305	splenic tuberculosis	http://purl.obolibrary.org/obo/DOID_2529	splenic disease		An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen.
http://purl.obolibrary.org/obo/DOID_931	monieziasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves zoonotic infection caused by Moniezia expansa, the common tapeworm of sheep.
http://purl.obolibrary.org/obo/DOID_9310	nasal cavity benign neoplasm	http://purl.obolibrary.org/obo/DOID_2163	nasal cavity disease		A respiratory system benign neoplasm that arises from the nasal cavity.
http://purl.obolibrary.org/obo/DOID_9312	chronic ethmoiditis	http://purl.obolibrary.org/obo/DOID_9507	ethmoid sinusitis		A ethmoid sinusitis which lasts for 12 weeks or more.
http://purl.obolibrary.org/obo/DOID_9317	lymphangitis	http://purl.obolibrary.org/obo/DOID_75	lymphatic system disease		A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning.
http://purl.obolibrary.org/obo/DOID_9360	intrinsic asthma	http://purl.obolibrary.org/obo/DOID_0080809	chronic asthma		A chronic asthma that is triggered by factors not attributable to allergies.
http://purl.obolibrary.org/obo/DOID_9362	status asthmaticus	http://purl.obolibrary.org/obo/DOID_0080810	acute asthma		An acute asthma that is characterized by an acute episode with a progressive severity that is poorly responsive to standard therapeutic measures, regardless of disease severity or phenotypic variant.
http://purl.obolibrary.org/obo/DOID_9373	postural kyphosis	http://purl.obolibrary.org/obo/DOID_4667	kyphosis		A kyphosis that has_material_basis_in slouching which results_in stretching of spinal ligament and abnormal formation located_in vertebra.
http://purl.obolibrary.org/obo/DOID_9375	Fuchs' heterochromic uveitis	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface.
http://purl.obolibrary.org/obo/DOID_9392	tracheitis	http://purl.obolibrary.org/obo/DOID_3225	tracheal disease		A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions.
http://purl.obolibrary.org/obo/DOID_9395	croup	http://purl.obolibrary.org/obo/DOID_1579	respiratory system disease		A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus.
http://purl.obolibrary.org/obo/DOID_9396	acute laryngitis	http://purl.obolibrary.org/obo/DOID_3437	laryngitis		A laryngitis which lasts less than a few days.
http://purl.obolibrary.org/obo/DOID_9398	epiglottitis	http://purl.obolibrary.org/obo/DOID_974	upper respiratory tract disease		An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor.
http://purl.obolibrary.org/obo/DOID_9410	combined pituitary hormone deficiency	http://purl.obolibrary.org/obo/DOID_9406	hypopituitarism		A hypopituitarism characterized by deficiency in growth hormone and at least one other pituitary hormone.
http://purl.obolibrary.org/obo/DOID_9415	allergic asthma	http://purl.obolibrary.org/obo/DOID_0080811	extrinsic asthma		An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness.
http://purl.obolibrary.org/obo/DOID_9432	renal glycosuria	http://purl.obolibrary.org/obo/DOID_447	renal tubular transport disease		A renal tubular transport disease characterized by decreased renal tubular resorption of glucose from the urine in the absence of hyperglycemia and other signs of tubular dysfunction.
http://purl.obolibrary.org/obo/DOID_9442	cervical Mullerian papilloma	http://purl.obolibrary.org/obo/DOID_0060110	cervical benign neoplasm		A cervical benign neoplasm that is a polypoid lesion of the superficial cervix or vagina of young girls to adult women and is characterized by papillary stalks covered by mucinous epithelium with focal squamous metaplasia, highly cellular fibrous tissue, no atypia, and minimal mitotic activity.
http://purl.obolibrary.org/obo/DOID_9445	cervix squamous papilloma	http://purl.obolibrary.org/obo/DOID_2615	papilloma		A cervical benign neoplasm that is a polypoid lesion characterized by a single papillary frond with a central fibrovascular core and mature squamous epithelium.
http://purl.obolibrary.org/obo/DOID_9452	steatotic liver disease	http://purl.obolibrary.org/obo/DOID_9455	lipid storage disease		A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.
http://purl.obolibrary.org/obo/DOID_946	dientamoebiasis	http://purl.obolibrary.org/obo/DOID_2789	parasitic protozoa infectious disease		A parasitic protozoa infectious disease that involves infection of the large intestine by a protozoan parasite Dientamoeba fragilis. The symptoms include diarrhea, stomach pain and cramping, loss of appetite and weight, nausea, and fatigue.
http://purl.obolibrary.org/obo/DOID_9462	cholesteatoma of external ear	http://purl.obolibrary.org/obo/DOID_869	cholesteatoma		A cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery.
http://purl.obolibrary.org/obo/DOID_9467	nail-patella syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by nail dysplasia and absent or hypoplastic patellae that has_material_basis_in heterozygous mutation in the LMX1B gene on chromosome 9q33.3.
http://purl.obolibrary.org/obo/DOID_9477	pulmonary embolism	http://purl.obolibrary.org/obo/DOID_60001	pulmonary artery disease		An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.
http://purl.obolibrary.org/obo/DOID_9478	postpartum depression	http://purl.obolibrary.org/obo/DOID_1595	melancholic depression		An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth.
http://purl.obolibrary.org/obo/DOID_9487	Meckel's diverticulum	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		A physical disorder that is characterized by a congenital abnormality characterized by the outpouching or sac formation in the ileum.
http://purl.obolibrary.org/obo/DOID_9498	pulmonary eosinophilia	http://purl.obolibrary.org/obo/DOID_850	lung disease		A hypereosinophilic syndrome characterized by the accumulation of eosinophils in the lungs.
http://purl.obolibrary.org/obo/DOID_9502	chronic eosinophilic pneumonia	http://purl.obolibrary.org/obo/DOID_5870	eosinophilic pneumonia		An eosinophilic pneumonia which slowly progresses over weeks to months. Life-threatening shortness of breath can develop if the condition is not treated. Individuals are often diagnosed with asthma before the advent of this disease.
http://purl.obolibrary.org/obo/DOID_9503	Loeffler syndrome	http://purl.obolibrary.org/obo/DOID_1205	allergic disease		An eosinophilic pneumonia described as a form of pulmonary eosinophilia characterized as a mild pneumonitis marked by transitory pulmonary infiltration and eosinophilia and usually considered to be an allergic reaction. It can occur in response to a parasitic infection.
http://purl.obolibrary.org/obo/DOID_9504	benign mammary dysplasia	http://purl.obolibrary.org/obo/DOID_0060082	breast benign neoplasm		A breast benign neoplasm that encompasses a range of conditions in which there is marked change in the breast tissue.
http://purl.obolibrary.org/obo/DOID_9505	cannabis abuse	http://purl.obolibrary.org/obo/DOID_302	substance abuse		A substance abuse that involves the recurring use of cannabis despite negative consequences.
http://purl.obolibrary.org/obo/DOID_9506	acute ethmoiditis	http://purl.obolibrary.org/obo/DOID_9507	ethmoid sinusitis		A ethmoid sinusitis which lasts for less than 4 weeks.
http://purl.obolibrary.org/obo/DOID_9507	ethmoid sinusitis	http://purl.obolibrary.org/obo/DOID_0050127	sinusitis		A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead.
http://purl.obolibrary.org/obo/DOID_9513	plasma cell leukemia	http://purl.obolibrary.org/obo/DOID_6536	plasma cell neoplasm		A plasma cell neoplasm that is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count.
http://purl.obolibrary.org/obo/DOID_9521	Laron syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by marked short stature with normal or high serum growth hormone and low serum insulin-like growth factor-1 levels that has_material_basis_in homozygous or compound heterozygous mutation in GHR on chromosome 5p13-p12.
http://purl.obolibrary.org/obo/DOID_9531	latent syphilis	http://purl.obolibrary.org/obo/DOID_4166	syphilis		A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease.
http://purl.obolibrary.org/obo/DOID_9534	tuberculous pneumothorax	http://purl.obolibrary.org/obo/DOID_1673	pneumothorax		A pneumothorax in which air enters into the pleural cavity.
http://purl.obolibrary.org/obo/DOID_9537	Lassa fever	http://purl.obolibrary.org/obo/DOID_3944	Arenaviridae infectious disease		A viral infectious disease that results_in infection, has_material_basis_in Lassa virus (Mammarenavirus lassaense), which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding.
http://purl.obolibrary.org/obo/DOID_9538	multiple myeloma	http://purl.obolibrary.org/obo/DOID_9500	leukocyte disease		A myeloid neoplasm that is located_in the plasma cells in bone marrow.
http://purl.obolibrary.org/obo/DOID_9550	indolent plasma cell myeloma	http://purl.obolibrary.org/obo/DOID_9538	multiple myeloma		A multiple myeloma that is characterized by M protein in serum and/or urine and evidence of organ damage related the plasma cell neoplasm.
http://purl.obolibrary.org/obo/DOID_9551	smoldering myeloma	http://purl.obolibrary.org/obo/DOID_9538	multiple myeloma		A multiple myeloma that is a slow growing type of myeloma in which abnormal plasma cells results_in too much of a single type of monoclonal antibody.
http://purl.obolibrary.org/obo/DOID_9563	bronchiectasis	http://purl.obolibrary.org/obo/DOID_1176	bronchial disease		A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances.
http://purl.obolibrary.org/obo/DOID_9577	neonatal candidiasis	http://purl.obolibrary.org/obo/DOID_1508	candidiasis		A candidiasis that involves fungal infection in neonates caused by Candida species. Low birthweight and age, prolonged intravascular catheterization and the use of antibiotic drugs are the principle predisposing conditions for systemic candidiasis in neonates.
http://purl.obolibrary.org/obo/DOID_9584	Venezuelan equine encephalitis	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus (Alphavirus venezuelan), which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region.
http://purl.obolibrary.org/obo/DOID_9597	Krukenberg carcinoma	http://purl.obolibrary.org/obo/DOID_2152	ovary epithelial cancer		An ovary epithelial cancer that is a metastatic signet-ring cell carcinoma, which spreads to the ovary from gastric tissue.
http://purl.obolibrary.org/obo/DOID_9598	fasciitis	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A connective tissue disease characterized by inflammation located in the fascia.
http://purl.obolibrary.org/obo/DOID_96	staphyloenterotoxemia	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness.
http://purl.obolibrary.org/obo/DOID_9620	vesicoureteral reflux	http://purl.obolibrary.org/obo/DOID_1426	ureteral disease		A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter.
http://purl.obolibrary.org/obo/DOID_9631	Pelger-Huet anomaly	http://purl.obolibrary.org/obo/DOID_74	hematopoietic system disease		A hematopoietic system disease characterized by white blood cells with unusually shaped nuclei that has_material_basis_in heterozygous mutation in LBR on chromosome 1q42.12.
http://purl.obolibrary.org/obo/DOID_9640	sarcocystosis	http://purl.obolibrary.org/obo/DOID_2113	coccidiosis		A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy.
http://purl.obolibrary.org/obo/DOID_9643	babesiosis	http://purl.obolibrary.org/obo/DOID_2789	parasitic protozoa infectious disease		A parasitic protozoa infectious disease that has_symptom mild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease.
http://purl.obolibrary.org/obo/DOID_9649	congenital nystagmus	http://purl.obolibrary.org/obo/DOID_9650	pathologic nystagmus		A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction.
http://purl.obolibrary.org/obo/DOID_9655	oral mucosa leukoplakia	http://purl.obolibrary.org/obo/DOID_403	mouth disease		A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with smoking.
http://purl.obolibrary.org/obo/DOID_9663	aphthous stomatitis	http://purl.obolibrary.org/obo/DOID_9637	stomatitis		A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers.
http://purl.obolibrary.org/obo/DOID_9667	placental abruption	http://purl.obolibrary.org/obo/DOID_780	placenta disease		A placenta disease that is characterized by separation of the placental lining from the uterus of the mother.
http://purl.obolibrary.org/obo/DOID_9681	cervical incompetence	http://purl.obolibrary.org/obo/DOID_2253	cervix disease		A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term.
http://purl.obolibrary.org/obo/DOID_9682	yellow fever	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results in infection, has_material_basis_in Yellow fever virus (Orthoflavivirus flavi), which is transmitted by Aedes, transmitted by Haemagogus, or transmitted by Sabethes species of mosquitoes. The infection has symptom fever, has symptom muscle pain, has symptom backache, has symptom headache, has symptom shivers, has symptom loss of appetite, has symptom jaundice, and has symptom bleeding from the mouth, nose, eyes or stomach leading to vomitus containing blood.
http://purl.obolibrary.org/obo/DOID_9694	toxic myocarditis	http://purl.obolibrary.org/obo/DOID_3951	acute myocarditis		An acute myocarditis that is characterized by an underlying toxin insult to the myocardium that induces acute inflammation.
http://purl.obolibrary.org/obo/DOID_9699	ophthalmia neonatorum	http://purl.obolibrary.org/obo/DOID_9700	bacterial conjunctivitis		A bacterial conjuctivitis that is characterized by pain and tenderness in the eyeball and conjuctival discharge.
http://purl.obolibrary.org/obo/DOID_9719	neovascular inflammatory vitreoretinopathy	http://purl.obolibrary.org/obo/DOID_9720	vitreous disease		A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5.
http://purl.obolibrary.org/obo/DOID_9723	vitreous abscess	http://purl.obolibrary.org/obo/DOID_9724	purulent endophthalmitis		A vitreous disease that is characterized by an abscess located_in the vitreous of the eye.
http://purl.obolibrary.org/obo/DOID_9733	renal tuberculosis	http://purl.obolibrary.org/obo/DOID_557	kidney disease		An urogenital tuberculosis that results_in formation of granulomas located_in kidney.
http://purl.obolibrary.org/obo/DOID_9735	acute allergic mucoid otitis media	http://purl.obolibrary.org/obo/DOID_1205	allergic disease		A blue drum syndrome caused by an allergen.
http://purl.obolibrary.org/obo/DOID_9736	blue drum syndrome	http://purl.obolibrary.org/obo/DOID_3697	acute transudative otitis media		A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color.
http://purl.obolibrary.org/obo/DOID_9740	postcholecystectomy syndrome	http://purl.obolibrary.org/obo/DOID_9741	biliary tract disease		A biliary tract disease characterized by the continuation or development of new gastrointestinal symptoms after cholecystectomy.
http://purl.obolibrary.org/obo/DOID_9746	hemorrhoid	http://purl.obolibrary.org/obo/DOID_9742	pelvic varices		A pelvic varices that is characterized by swollen, inflamed veins around the anus or lower rectum.
http://purl.obolibrary.org/obo/DOID_9749	internal hemorrhoid	http://purl.obolibrary.org/obo/DOID_9746	hemorrhoid		A hemorrhoid that is located_in the rectum.
http://purl.obolibrary.org/obo/DOID_9765	emphysematous cholecystitis	http://purl.obolibrary.org/obo/DOID_1949	cholecystitis		A cholecystitis consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues, where gallbladder wall necrosis causes gas formation in the lumen or wall.
http://purl.obolibrary.org/obo/DOID_9766	xanthogranulomatous cholecystitis	http://purl.obolibrary.org/obo/DOID_1949	cholecystitis		A cholecystitis characterized by nodules containing lipid-laden macrophages.
http://purl.obolibrary.org/obo/DOID_9773	female breast upper-outer quadrant cancer	http://purl.obolibrary.org/obo/DOID_0050671	female breast cancer		A female breast cancer that is located_in the upper-outer quadrant of the breast.
http://purl.obolibrary.org/obo/DOID_9778	irritable bowel syndrome	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		An intestinal disease that is characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause.
http://purl.obolibrary.org/obo/DOID_9784	trichinosis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi. Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur.
http://purl.obolibrary.org/obo/DOID_9786	bulbar polio	http://purl.obolibrary.org/obo/DOID_0050515	paralytic poliomyelitis		A paralytic poliomyelitis that results in destruction located in motor neurons of brainstem, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, has symptom difficulty speaking, has symptom difficulty swallowing, and has symptom difficulty chewing.
http://purl.obolibrary.org/obo/DOID_9790	toxocariasis	http://purl.obolibrary.org/obo/DOID_936	brain disease		A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions.
http://purl.obolibrary.org/obo/DOID_9801	tuberculous peritonitis	http://purl.obolibrary.org/obo/DOID_404	gastrointestinal tuberculosis		A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation.
http://purl.obolibrary.org/obo/DOID_9808	Goodpasture syndrome	http://purl.obolibrary.org/obo/DOID_850	lung disease		An autoimmune disease that is characterized by antibody attack of the basement membrane in lungs and kidneys, leading to bleeding from the lungs and kidney failure.
http://purl.obolibrary.org/obo/DOID_9810	polyarteritis nodosa	http://purl.obolibrary.org/obo/DOID_865	vasculitis		A vasculitis that is characterized by necrotizing inflammation of medium or small arteries.
http://purl.obolibrary.org/obo/DOID_9828	neonatal abstinence syndrome	http://purl.obolibrary.org/obo/DOID_0060001	withdrawal disorder		A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment.
http://purl.obolibrary.org/obo/DOID_9834	hyperopia	http://purl.obolibrary.org/obo/DOID_9835	refractive error		A refractive error that is characterized by rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back.
http://purl.obolibrary.org/obo/DOID_9861	miliary tuberculosis	http://purl.obolibrary.org/obo/DOID_0050598	extrapulmonary tuberculosis		An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs.
http://purl.obolibrary.org/obo/DOID_9869	hereditary fructose intolerance syndrome	http://purl.obolibrary.org/obo/DOID_2978	carbohydrate metabolic disorder		A carbohydrate metabolic disorder characterized by recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal after introduction of fructose or sucrose to the diet that has_material_basis_in homozygous or compound heterozygous mutation in the aldolase B gene (ALDOB) on chromosome 9q31.
http://purl.obolibrary.org/obo/DOID_988	mitral valve prolapse	http://purl.obolibrary.org/obo/DOID_61	mitral valve disease		A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.
http://purl.obolibrary.org/obo/DOID_9880	cardiovascular syphilis	http://purl.obolibrary.org/obo/DOID_8200	tertiary syphilis		A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries.
http://purl.obolibrary.org/obo/DOID_9883	Becker muscular dystrophy	http://purl.obolibrary.org/obo/DOID_9884	muscular dystrophy		A muscular dystrophy that involves slowly worsening muscle weakness of the legs and pelvis, and has_material_basis_in X-linked recessive inheritance of mutation in the dystrophin gene on chromosome Xp21.
http://purl.obolibrary.org/obo/DOID_990	congenital heart block	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		An atrioventricular block characterized by the presence of conduction system disease of any form, which is diagnosed on or before 28 days of life.
http://purl.obolibrary.org/obo/DOID_9903	meibomian cyst	http://purl.obolibrary.org/obo/DOID_9423	blepharitis		A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid.
http://purl.obolibrary.org/obo/DOID_9909	hordeolum	http://purl.obolibrary.org/obo/DOID_530	eyelid disease		An eyelid disease that is characterized by an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection.
http://purl.obolibrary.org/obo/DOID_9910	central corneal ulcer	http://purl.obolibrary.org/obo/DOID_8463	corneal ulcer		A corneal ulcer that is characterized by ulceration and opacification of the central cornea and is caused by minor trauma and subsequent infection by bacterial or mycotic organisms.
http://purl.obolibrary.org/obo/DOID_992	Omsk hemorrhagic fever	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Omsk hemorrhagic fever virus (Orthoflavivirus omskense), which is transmitted_by Dermacentor and transmitted_by Ixodes species of ticks. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom pain in lower and upper extremities, has_symptom stiff neck, has_symptom papulovesicular rash on the soft palate, has_symptom cervical lymphadenopathy, has_symptom conjunctival suffusion, has_symptom blood in the urine, and has_symptom blood in the sputum.
http://purl.obolibrary.org/obo/DOID_9923	developmental coordination disorder	http://purl.obolibrary.org/obo/DOID_0060038	specific developmental disorder		A specific developmental disorder that involves disordered motor skills where coordinated muscle movement is impaired.
http://purl.obolibrary.org/obo/DOID_9931	Waterhouse-Friderichsen syndrome	http://purl.obolibrary.org/obo/DOID_9553	adrenal gland disease		An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland.
http://purl.obolibrary.org/obo/DOID_9935	chronic inflammation of lacrimal passage	http://purl.obolibrary.org/obo/DOID_1400	lacrimal apparatus disease		A lacrimal apparatus disease that is characterized by longstanding inflammation of the lacrimal passage, and has_symptom pain, increased or decreased tearing, and swelling between the eye and nose.
http://purl.obolibrary.org/obo/DOID_9946	steroid-induced glaucoma	http://purl.obolibrary.org/obo/DOID_1686	glaucoma		A glaucoma characterized by elevated intraocular pressure secondary to chronic corticosteroid use, which leads to glaucomatous optic nerve atrophy and progressive vision loss and has_symptom progressive decreased vision, visual field defects, and decreased peripheral vision. Steroid-induced glaucoma is caused by chronic corticosteroid use.
http://purl.obolibrary.org/obo/DOID_9953	acute biphenotypic leukemia	http://purl.obolibrary.org/obo/DOID_12603	acute leukemia		An acute leukemia that is characterized by the occurrence of more than one type of leukemia at the same time resulting from either the occurrence of blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens.
http://purl.obolibrary.org/obo/DOID_9955	hypoplastic left heart syndrome	http://purl.obolibrary.org/obo/DOID_1682	congenital heart disease		A congenital heart disease characterized by abnormal development of the left-sided structures of the heart.
http://purl.obolibrary.org/obo/DOID_9958	hemometra	http://purl.obolibrary.org/obo/DOID_345	uterine disease		A uterine disease that is characterized by the presence of blood in the uterine cavity.
http://purl.obolibrary.org/obo/DOID_9969	carotenemia	http://purl.obolibrary.org/obo/DOID_0060158	acquired metabolic disease		An acquired metabolic disease that is characterized by yellow-orange skin pigmentation due to high levels of carotene in blood.
http://purl.obolibrary.org/obo/DOID_997	uterine inversion	http://purl.obolibrary.org/obo/DOID_345	uterine disease		A uterine disease that is characterized by the uterine cavity turning inside out as a complication of childbirth.
http://purl.obolibrary.org/obo/DOID_9971	hypervitaminosis D	http://purl.obolibrary.org/obo/DOID_654	overnutrition		An overnutrition that is characterized by elevated vitamin D, which can subsequently cause high levels of calcium, has_symptom myalgia, fatigue, irritability, nausea, dehydration, polyuria, and nephrocalcinosis, and possibly has_material_basis_in excess intake of vitamin D.
http://purl.obolibrary.org/obo/DOID_9972	hypervitaminosis A	http://purl.obolibrary.org/obo/DOID_654	overnutrition		An overnutrition that is characterized by excess vitamin A, has_symptom hepatomegaly, anorexia, fever, alopecia, and arthralgia, and has_material_basis_in excessive intake of vitaimin A, and/or derangement of vitamin A metabolism.
http://purl.obolibrary.org/obo/DOID_9974	drug dependence	http://purl.obolibrary.org/obo/DOID_9973	substance dependence		A substance dependence that involves the continued use of drugs despite problems related to use of the substance.
http://purl.obolibrary.org/obo/DOID_9975	cocaine dependence	http://purl.obolibrary.org/obo/DOID_9974	drug dependence		A drug dependence that is a psychological dependency on the regular use of cocaine.
http://purl.obolibrary.org/obo/DOID_9976	heroin dependence	http://purl.obolibrary.org/obo/DOID_2559	opiate dependence		An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.
http://purl.obolibrary.org/obo/DOID_9977	hallucinogen dependence	http://purl.obolibrary.org/obo/DOID_9974	drug dependence		A drug dependence that involves the continued use of hallucinogenic drugs despite problems related to use of the substance.
http://purl.obolibrary.org/obo/DOID_998	eosinophilia-myalgia syndrome	http://purl.obolibrary.org/obo/DOID_999	hypereosinophilic syndrome		A hypereosinophilic syndrome that is characterized by subacute onset of myalgias and peripheral eosinophilia, followed by chronic neuropathy and skin induration.
http://purl.obolibrary.org/obo/DOID_9986	orbit lymphoma	http://purl.obolibrary.org/obo/DOID_0060058	lymphoma		An orbital cancer that has_material_basis_in some lymphocyte.
http://purl.obolibrary.org/obo/DOID_9987	orbit sarcoma	http://purl.obolibrary.org/obo/DOID_1115	sarcoma		An orbital cancer that has_material_basis_in abnormally proliferating cells derived from embryonic mesoderm.
http://purl.obolibrary.org/obo/DOID_999	hypereosinophilic syndrome	http://purl.obolibrary.org/obo/DOID_9500	leukocyte disease		A leukocyte disease that is characterized by high numbers of eosinophils which over time enter various tissues, eventually damaging organs.
http://purl.obolibrary.org/obo/DOID_9993	hypoglycemia	http://purl.obolibrary.org/obo/DOID_4194	glucose metabolism disease		A glucose metabolism disease that is characterized by abnormally low levels of blood glucose.
http://purl.obolibrary.org/obo/DOID_9997	peripartum cardiomyopathy	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that is characterized by a weakness of the heart muscle that begins sometime during the final month of pregnancy through about five months after delivery.
http://purl.obolibrary.org/obo/HP_0003577	Congenital onset	http://purl.obolibrary.org/obo/HP_0003674	onset		A phenotypic abnormality that is present at birth.
http://purl.obolibrary.org/obo/HP_0003581	Adult onset	http://purl.obolibrary.org/obo/HP_0003674	onset		Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.
http://purl.obolibrary.org/obo/HP_0003584	Late onset	http://purl.obolibrary.org/obo/HP_0003674	onset		A type of adult onset with onset of symptoms after the age of 60 years.
http://purl.obolibrary.org/obo/HP_0003593	Infantile onset	http://purl.obolibrary.org/obo/HP_0410280	Pediatric onset		Onset of signs or symptoms of disease between 28 days to one year of life.
http://purl.obolibrary.org/obo/HP_0003596	Middle age onset	http://purl.obolibrary.org/obo/HP_0003674	onset		A type of adult onset with onset of symptoms at the age of 40 to 60 years.
http://purl.obolibrary.org/obo/HP_0003621	Juvenile onset	http://purl.obolibrary.org/obo/HP_0410280	Pediatric onset		Onset of signs or symptoms of disease between the age of 5 and 15 years.
http://purl.obolibrary.org/obo/HP_0003623	Neonatal onset	http://purl.obolibrary.org/obo/HP_0003674	onset		Onset of signs or symptoms of disease within the first 28 days of life.
http://purl.obolibrary.org/obo/FOODON_03413761	vitamin B12	http://purl.obolibrary.org/obo/CHEBI_33229	vitamin (role)		An essential nutrient and natural water-soluble vitamin of the B-complex family that must combine with an intrinsic factor for absorption by the intestine, Vitamin B12 (cyanocobalamin) is necessary for hematopoiesis, neural metabolism, DNA and RNA production, and carbohydrate, fat, and protein metabolism. B12 improves iron functions in the metabolic cycle and assists folic acid in choline synthesis. B12 metabolism is interconnected with that of folic acid. Vitamin B12 deficiency causes pernicious anemia, megaloblastic anemia, and neurologic lesions.
http://purl.obolibrary.org/obo/SYMP_0000041	hemorrhage	http://purl.obolibrary.org/obo/SYMP_0000528	cardiovascular system symptom		A cardiovascular system symptom that is characterized by an acute loss of blood from a damaged blood vessel.
http://purl.obolibrary.org/obo/SYMP_0000218	poor enunciation	http://purl.obolibrary.org/obo/SYMP_0000508	aphasia		An aphasia that is characterized by a loss of ability to properly enunciate words.
http://purl.obolibrary.org/obo/SYMP_0000515	hiccough	http://purl.obolibrary.org/obo/SYMP_0000514	respiratory system and chest symptom		A respiratory system and chest symptom that is characterized by a spasmodic inhalation with closure of the glottis accompanied by a peculiar sound.
http://purl.obolibrary.org/obo/SYMP_0000433	anasarca	http://purl.obolibrary.org/obo/SYMP_0000538	edema		Anasarca is a edema characterized as generalized edema with accumulation of serum in the connective tissue.
http://purl.obolibrary.org/obo/SYMP_0000118	rales	http://purl.obolibrary.org/obo/SYMP_0000587	abnormal chest sound		An abnormal chest sound that is characterized by the clicking, rattling, or crackling noises heard on auscultation of (listening to) the lung with a stethoscope during inhalation. The sounds are caused by the 'popping open' of small airways and alveoli collapsed by fluid, exudate, or lack of aeration during expiration. The word 'rales' derives from the French word rale meaning 'rattle'. Rales can be heard in patients with pneumonia, atelectasis, pulmonary fibrosis, acute bronchitis, or bronchiectasis. Pulmonary edema secondary to left-sided congestive heart failure can also cause rales.
http://purl.obolibrary.org/obo/SYMP_0000472	early satiety	http://purl.obolibrary.org/obo/SYMP_0000473	nutrition, metabolism, and development symptom		A nutrition, metabolism, and development symptom that is characterized by a feeling of being full after a few bites of food, or before you finish a normal-sized meal.
http://purl.obolibrary.org/obo/SYMP_0000858	hypokinesia	http://purl.obolibrary.org/obo/SYMP_0000891	musculoskeletal system symptom		Hypokinesia is a musculoskeletal system  symptom characterized by the slow or diminished movement of body musculature. It may be associated with basal ganglia diseases; mental disorders; prolonged inactivity due to illness; experimental protocols used to evaluate the physiologic effects of immobility; and other conditions.
http://purl.obolibrary.org/obo/SYMP_0019158	eschar	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by a scab formed especially after a burn.
http://purl.obolibrary.org/obo/DOID_0090070	hypogonadotropic hypogonadism	http://purl.obolibrary.org/obo/DOID_1924	hypogonadism		A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone.
http://purl.obolibrary.org/obo/SYMP_0000021	delirium	http://purl.obolibrary.org/obo/SYMP_0000410	neurological and physiological symptom		A neurological and physiological symptom that is characterized by a mental disturbance characterized by confusion, disordered speech, and hallucinations.
http://purl.obolibrary.org/obo/OMIT_0001823	Air Pollution	http://purl.obolibrary.org/obo/DISDRIV_0000006	chemical driver		A chemical driver that is air pollution, that is composed of a mixture of chemical and particulate matter pollutants in outdoor air, including but not limited to carbon monoxide, ozone, sulfur dixoide, nitrogen dioxide, lead, and fine partiuculate matter. Vehicle emissions, fuel oils and natural gas to heat homes, by-products of manufacturing and power generation, particularly coal-fueled power plants, and fumes from chemical production are the primary sources of human-made air pollution. A pollution process during which particulates or other contaminants are released into a portion of air.
http://purl.obolibrary.org/obo/OMIT_0004368	Cockroaches	http://purl.obolibrary.org/obo/CHEBI_50904	allergen		An allergen that is a cockroach, a source of indoor allergens.
http://purl.obolibrary.org/obo/OMIT_0005411	Dioxins	http://purl.obolibrary.org/obo/CHEBI_138015	endocrine disruptor		An endocrine disruptor that is dioxin, are mainly byproducts of industrial practices. They are produced through a variety of incineration processes, including improper municipal waste incineration and burning of trash, and can be released into the air during natural processes, such as forest fires and volcanoes.
http://purl.obolibrary.org/obo/OMIT_0028282	Dander	http://purl.obolibrary.org/obo/CHEBI_50904	allergen		An allergen that is dander, may trigger allergy symptoms like sneezing or red, itchy eyes. Pet dander, the source of allergens, is composed of tiny, even microscopic, proteins from flecks of skin shed by pets.
http://purl.obolibrary.org/obo/SYMP_0000006	backache	http://purl.obolibrary.org/obo/SYMP_0000099	pain		A pain that is characterized by occurring in the lower back.
http://purl.obolibrary.org/obo/SYMP_0000012	blurred vision	http://purl.obolibrary.org/obo/SYMP_0000628	vision distortion		A vision symptom that is characterized by a decreased clarity or sharpness in vision, which can be caused by eye conditions myopia or hyperopia.
http://purl.obolibrary.org/obo/SYMP_0000020	dehydration	http://purl.obolibrary.org/obo/SYMP_0000473	nutrition, metabolism, and development symptom		A nutrition, metabolism, and development symptom that is characterized by an abnormal depletion of body fluids.
http://purl.obolibrary.org/obo/SYMP_0000024	drowsiness	http://purl.obolibrary.org/obo/SYMP_0000410	neurological and physiological symptom		A neurological and physiological symptom that is characterized by a feeling of being more sleepy than normal during the day. People who are drowsy may fall asleep in when they do not want to or at times which can lead to safety concerns.
http://purl.obolibrary.org/obo/SYMP_0000030	paralysis	http://purl.obolibrary.org/obo/SYMP_0000480	nervous system symptom		A nervous system symptom that is characterized by a complete or partial loss of function especially when involving the power of motion or of sensation in any part of the body.
http://purl.obolibrary.org/obo/SYMP_0000038	dyspneic enteritis	http://purl.obolibrary.org/obo/SYMP_0000514	respiratory system and chest symptom		A respiratory system and chest symptom that is characterized by being short or breath or out of air (dyspnea), with inflammation of the small intestine (enteritis).
http://purl.obolibrary.org/obo/SYMP_0000039	enteritis	http://purl.obolibrary.org/obo/SYMP_0000459	digestive system symptom		Enteritis is a digestive system symptom involving the inflammation of the small intestines and especially of the human ileum.
http://purl.obolibrary.org/obo/SYMP_0000079	coordination symptom	http://purl.obolibrary.org/obo/SYMP_0000480	nervous system symptom		A nervous system symptom that is characterized by the harmonious functioning of interrelated organs and body parts; in particular the working together of muscle groups in the execution of complicated movements.
http://purl.obolibrary.org/obo/SYMP_0000089	meningoencephalitis	http://purl.obolibrary.org/obo/SYMP_0000480	nervous system symptom		A nervous system symptom that is characterized by an inflammation of the brain and meninges.
http://purl.obolibrary.org/obo/SYMP_0000090	encephalitis	http://purl.obolibrary.org/obo/SYMP_0000480	nervous system symptom		A nervous system symptom that is characterized by inflammation of the brain tissue, which is typically caused by a viral infection, but it may also be caused by bacterial or parasitic infections, cancer, or certain drugs or toxins.
http://purl.obolibrary.org/obo/SYMP_0000091	mild encephalitis	http://purl.obolibrary.org/obo/SYMP_0000090	encephalitis		An encephalitis that is not intense (not severe).
http://purl.obolibrary.org/obo/SYMP_0000098	nephritis	http://purl.obolibrary.org/obo/SYMP_0000486	urinary system symptom		A urinary system symptom that is characterized by the acute or chronic inflammation of the kidney affecting the structure (as of the glomerulus or parenchyma) and caused by infection, a degenerative process, or vascular disease.
http://purl.obolibrary.org/obo/SYMP_0000102	peritonitis	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by an inflammation of the peritoneum.
http://purl.obolibrary.org/obo/SYMP_0000107	pleural effusion	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by an exudation of fluid from the blood or lymph into a pleural cavity.
http://purl.obolibrary.org/obo/SYMP_0000141	spasticity	http://purl.obolibrary.org/obo/SYMP_0000480	nervous system symptom		A nervous system symptom that is characterized by an abnormal increase in muscle tone or stiffness of muscle, which might interfere with movement, speech, or be associated with discomfort or pain.
http://purl.obolibrary.org/obo/SYMP_0000156	thirst	http://purl.obolibrary.org/obo/SYMP_0000567	general symptom		Thirst is a general symptom characterized by a sensation of dryness in the mouth and throat associated with a desire for liquids.
http://purl.obolibrary.org/obo/SYMP_0000174	wasting	http://purl.obolibrary.org/obo/SYMP_0000473	nutrition, metabolism, and development symptom		A nutrition, metabolism, and development symptom that is characterized by the unintended loss of weight and lean body tissue characteristic of many diseases (as cancer, tuberculosis, and AIDS).
http://purl.obolibrary.org/obo/SYMP_0000201	acute meningoencephalitis	http://purl.obolibrary.org/obo/SYMP_0000089	meningoencephalitis		A meningoencephalitis that is characterized by a severe and sudden onset.
http://purl.obolibrary.org/obo/SYMP_0000215	inability to comprehend speech	http://purl.obolibrary.org/obo/SYMP_0000508	aphasia		An aphasia that is characterized by a loss of ability to comprehend speech.
http://purl.obolibrary.org/obo/SYMP_0000216	inability to speak	http://purl.obolibrary.org/obo/SYMP_0000508	aphasia		An aphasia that is characterized by a loss of ability to speak.
http://purl.obolibrary.org/obo/SYMP_0000217	inability to form words	http://purl.obolibrary.org/obo/SYMP_0000508	aphasia		An aphasia that is characterized by a loss of ability to form words.
http://purl.obolibrary.org/obo/SYMP_0000226	atrial fibrillation	http://purl.obolibrary.org/obo/SYMP_0000898	cardiac fibrillation		A cardiac fibrillation consisting of a very rapid uncoordinated contractions of the atria of the heart resulting in a lack of synchronism between heartbeat and pulse beat.
http://purl.obolibrary.org/obo/SYMP_0000231	bradycardia	http://purl.obolibrary.org/obo/SYMP_0000287	arrhythmia		Bradycardia is a cardiovascular system symptom consisting of a relatively slow heart action whether physiological or pathological.
http://purl.obolibrary.org/obo/SYMP_0000232	bronchiolitis	http://purl.obolibrary.org/obo/SYMP_0000514	respiratory system and chest symptom		A respiratory system and chest symptom that is characterized by an inflammation of the bronchioles.
http://purl.obolibrary.org/obo/SYMP_0000236	colicky pain	http://purl.obolibrary.org/obo/SYMP_0000099	pain		A pain that is characterized by an attack of acute abdominal pain localized in a hollow organ or part (as the small intestine, ureter, or bile duct) and often caused by spasm, obstruction, or twisting.
http://purl.obolibrary.org/obo/SYMP_0000245	decreased appetite	http://purl.obolibrary.org/obo/SYMP_0000244	alteration of appetite		An alteration of appetite that is characterized by a reduced desire to eat.
http://purl.obolibrary.org/obo/SYMP_0000247	proprioception symptom	http://purl.obolibrary.org/obo/SYMP_0000410	neurological and physiological symptom		A neurological and physiological symptom that is characterized by one's body’s ability to sense movement, action, and location and results from sensory receptors in one's nervous system and body (muscles, joints, and tendons).
http://purl.obolibrary.org/obo/SYMP_0000251	dermal abscess	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by a pus-filled pocket in the skin, similar to a pimple, but larger and deeper.  The pocket is filled with bacteria, white blood cells, and dead skin and typcally result from the bacteria Staphylococcus aureus prentrating the skin through a cut or hair follicle.
http://purl.obolibrary.org/obo/SYMP_0000259	dry hacking cough	http://purl.obolibrary.org/obo/SYMP_0000025	dry cough		A dry cough that is characterized by a rough and loud sound.
http://purl.obolibrary.org/obo/SYMP_0000285	flaccid paralysis	http://purl.obolibrary.org/obo/SYMP_0000030	paralysis		A paralysis that is charicterized by a lack of muscle tone in the affected muscles and in which tendon reflexes are decreased or absent.
http://purl.obolibrary.org/obo/SYMP_0000287	arrhythmia	http://purl.obolibrary.org/obo/SYMP_0000528	cardiovascular system symptom		Arrhythmia is a cardiovascular system symptom consisting of an alteration in rhythm of the heartbeat either in time or force.
http://purl.obolibrary.org/obo/SYMP_0000289	eczema	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by an inflammatory condition of the skin with redness, itching, and oozing vesicular lesions, which become scaly, crusted, or hardened.
http://purl.obolibrary.org/obo/SYMP_0000290	belching	http://purl.obolibrary.org/obo/SYMP_0000459	digestive system symptom		Belching is a digestive system symptom involving the sudden expulsion of gas from the stomach through the mouth.
http://purl.obolibrary.org/obo/SYMP_0000293	hemiparesis	http://purl.obolibrary.org/obo/SYMP_0000030	paralysis		A paralysis that is characterized by a weakness or the inability to move on one side of the body.
http://purl.obolibrary.org/obo/SYMP_0000295	hepatic abscess	http://purl.obolibrary.org/obo/SYMP_0000180	liver symptom		hepatic abscess is a liver symptom characterized by a pus-filled mass in the liver that can develop from injury to the liver or an intraabdominal infection disseminated from the portal circulation.
http://purl.obolibrary.org/obo/SYMP_0000299	hyperemia	http://purl.obolibrary.org/obo/SYMP_0019139	hemic system symptom		Hyperemia is a hemic system symptom consisting of an excess of blood in a body part as from an increased flow of blood due to vasodilation.
http://purl.obolibrary.org/obo/SYMP_0000300	hyperesthesia	http://purl.obolibrary.org/obo/SYMP_0000892	sensation perception		A sensation perception that is characterized by an increased sensitivity to stimulation.
http://purl.obolibrary.org/obo/SYMP_0000302	hypothermia	http://purl.obolibrary.org/obo/SYMP_0000410	neurological and physiological symptom		A neurological and physiological symptom that is characterized by a subnormal temperature of the body, as defined by a temperature under 36.6 degrees Celcius (97.8 degrees Fahrenheit).
http://purl.obolibrary.org/obo/SYMP_0000304	impaired coordination	http://purl.obolibrary.org/obo/SYMP_0000079	coordination symptom		A coordination symptom that is characterized by weakened or imperfect body complicated  movement, which may be caused by disease, injury, or toxins.
http://purl.obolibrary.org/obo/SYMP_0000309	loss of appetite	http://purl.obolibrary.org/obo/SYMP_0000244	alteration of appetite		An alteration of appetite that is characterized by a loss of desire to eat, i.e. no desire to eat.
http://purl.obolibrary.org/obo/SYMP_0000322	low birth weight	http://purl.obolibrary.org/obo/SYMP_0020012	weight symptom		A weight symptom that is characterized by an infant weighing 5.5 pounds (2500 grams) or less at birth.  Low birth weight may occur with premature birth, or due to smoking cigarettes, secondhand tobacco smoke exposure, drinking alcohol, and taking certain drugs during pregnancy.
http://purl.obolibrary.org/obo/SYMP_0000323	melena	http://purl.obolibrary.org/obo/SYMP_0000146	feces and droppings symptom		A feces and droppings symptom that is characterized by the passage of dark tarry stools containing decomposing blood that is usually an indication of bleeding in the upper part of the alimentary canal and especially the esophagus, stomach, and duodenum.
http://purl.obolibrary.org/obo/SYMP_0000328	mild tetanic convulsion	http://purl.obolibrary.org/obo/SYMP_0000327	tetanic convulsion		A tetanic convulsion that is not intense (not severe).
http://purl.obolibrary.org/obo/SYMP_0000331	muscle ache	http://purl.obolibrary.org/obo/SYMP_0019161	muscle pain		A pain that is characterized by a continuous or prolonged dull pain.
http://purl.obolibrary.org/obo/SYMP_0000340	limb edema	http://purl.obolibrary.org/obo/SYMP_0000538	edema		An adema that is characterized by an abnormal excess accumulation of serous fluid in connective tissue of the limbs.
http://purl.obolibrary.org/obo/SYMP_0000343	painful lymph glands	http://purl.obolibrary.org/obo/SYMP_0000099	pain		A pain that is characterized by a pain situated, or occurring, in the lymph gland (lymph node). Pain is often associated with swelling of the gland, which is a sign that one's body is fighting an infection.
http://purl.obolibrary.org/obo/SYMP_0000344	palpebral edema	http://purl.obolibrary.org/obo/SYMP_0000538	edema		An adema that is characterized by an abnormal excess accumulation of serous fluid in connective tissue of the eyelids.
http://purl.obolibrary.org/obo/SYMP_0000345	panting respiration	http://purl.obolibrary.org/obo/SYMP_0000598	respiratory abnormality		A respiratory abnormality that is characterized by short, shallow, and rapid breathing.
http://purl.obolibrary.org/obo/SYMP_0000346	papule	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by a small solid usually conical elevation of the skin caused by inflammation, accumulated secretion, or hypertrophy of tissue elements.
http://purl.obolibrary.org/obo/SYMP_0000349	paraplegia	http://purl.obolibrary.org/obo/SYMP_0000030	paralysis		A paralysis that is characterized by a complete, or partial, loss of function of the lower half of the body with involvement of both legs that is usually due to injury or disease of the spinal cord in the thoracic or lumbar region.
http://purl.obolibrary.org/obo/SYMP_0000353	phlegm	http://purl.obolibrary.org/obo/SYMP_0000514	respiratory system and chest symptom		A respiratory system and chest symptom that is characterized by a viscid mucus secreted in abnormal quantity in the respiratory passages.
http://purl.obolibrary.org/obo/SYMP_0000354	pneumonitis	http://purl.obolibrary.org/obo/SYMP_0000514	respiratory system and chest symptom		A respiratory system and chest symptom that is characterized by an inflammation of lung tissue. Pneumonia is one type of pneumonitis caused by an infection. Many other factors can cause pneumonitis, including breathing in animal dander, inhaling small food particles 'down the wrong pipe' and receiving radiation therapy to your chest.
http://purl.obolibrary.org/obo/SYMP_0000355	poor feeding	http://purl.obolibrary.org/obo/SYMP_0000522	feeding difficulties and mismanagement		A feeding difficulties and mismanagement that is characterized by an infant with little interest in feeding and it can also refer to an infant who is not feeding enough to receive the necessary nutrition required for adequate growth.
http://purl.obolibrary.org/obo/SYMP_0000360	emaciation	http://purl.obolibrary.org/obo/SYMP_0000174	wasting		A wasting that is characterized by the state of being extremely thin as a result of an absence of body fat and very week as a result of muscle wasting; usually because of illness or extreme hunger.
http://purl.obolibrary.org/obo/SYMP_0000365	prostatic abscess	http://purl.obolibrary.org/obo/SYMP_0000364	prostate symptom		A prostate symptom that is characterized by a localized collection of purulent fluid within the prostate, often forming as a complication of acute bacterial prostatitis.
http://purl.obolibrary.org/obo/SYMP_0000366	prostatic infection	http://purl.obolibrary.org/obo/SYMP_0000364	prostate symptom		A prostate symptom that is characterized by inflammation of the prostate and surrounding area.
http://purl.obolibrary.org/obo/SYMP_0000370	renal abscess	http://purl.obolibrary.org/obo/SYMP_0000486	urinary system symptom		A urinary system symptom that is characterized by a pocket (a walled-off cavity) of pus that develops in the kidney tissue. It results from the migration of bacteria from another infection site on the body to the kidneys.
http://purl.obolibrary.org/obo/SYMP_0000371	respiratory paralysis	http://purl.obolibrary.org/obo/SYMP_0000030	paralysis		A paralysis that is characterized by a complete or severe weakness of the muscles of respiration.
http://purl.obolibrary.org/obo/SYMP_0000379	severe myalgia	http://purl.obolibrary.org/obo/SYMP_0019161	muscle pain		A muscle pain that is characterized by being severe in nature.  Myalgia may be acute in nature, stemming from overuse of a muscle group or viral infection.  It may also be chronic and caused by  metabolic myopathy, some nutritional deficiencies, and chronic fatigue syndrome.
http://purl.obolibrary.org/obo/SYMP_0000389	stupor	http://purl.obolibrary.org/obo/SYMP_0000482	alteration of consciousness		An alteration of consciousness that is characterized by a lack of critical mental function and a level of consciousness, in which an affected person is almost entirely unresponsive and responds only to intense stimuli such as pain.
http://purl.obolibrary.org/obo/SYMP_0000399	vertigo	http://purl.obolibrary.org/obo/SYMP_0000610	dizziness		A dizziness that is characterized by a specific type of dizziness, a major symptom of a balance disorder. It is the sensation of spinning or swaying while the body is stationary with respect to the surroundings.
http://purl.obolibrary.org/obo/SYMP_0000402	cachexia	http://purl.obolibrary.org/obo/SYMP_0000473	nutrition, metabolism, and development symptom		A nutrition, metabolism, and development symptom that is characterized by a general physical wasting and malnutrition usually associated with chronic disease.
http://purl.obolibrary.org/obo/SYMP_0000408	cataplexy	http://purl.obolibrary.org/obo/SYMP_0000183	muscle symptom		Cataplexy is a muscle symptom characterized by a sudden loss of muscle control with retention of clear consciousness that follows a strong emotional stimulus (as elation, surprise, or anger) and is a characteristic symptom of narcolepsy.
http://purl.obolibrary.org/obo/SYMP_0000414	dysarthria	http://purl.obolibrary.org/obo/SYMP_0000410	neurological and physiological symptom		A neurological and physiological symptom that is characterized by a difficulty in articulating words due to disease of the central nervous system.
http://purl.obolibrary.org/obo/SYMP_0000420	bloating	http://purl.obolibrary.org/obo/SYMP_0000459	digestive system symptom		Bloating is a digestive system symptom involving the accumulation of gas in the digestive tract and resulting in abdominal distension.
http://purl.obolibrary.org/obo/SYMP_0000428	hypoventilation	http://purl.obolibrary.org/obo/SYMP_0000598	respiratory abnormality		A respiratory abnormality that is characterized by a deficient ventilation of the lungs that results in reduction in the oxygen content or increase in the carbon dioxide content of the blood or both.
http://purl.obolibrary.org/obo/SYMP_0000430	pleuritic chest pain	http://purl.obolibrary.org/obo/SYMP_0000576	chest pain		A chest pain that is characterized by an inflammation of the pleural cavity with a sharp pain resulting from the exansion of the lungs as the inflammed pleural layers rub against each other.
http://purl.obolibrary.org/obo/SYMP_0000431	sputum	http://purl.obolibrary.org/obo/SYMP_0000514	respiratory system and chest symptom		A respiratory system and chest symptom that is characterized by matter discharged from the air passages in diseases of the lungs, bronchi, or upper respiratory tract that contains mucus and often pus, blood, fibrin, or bacterial products.
http://purl.obolibrary.org/obo/SYMP_0000432	itching	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by an uneasy irritating sensation in the upper surface of the skin usually held to result from mild stimulation of pain receptors.
http://purl.obolibrary.org/obo/SYMP_0000435	paresthesia	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by a sensation of pricking, tingling, or creeping on the skin having no objective cause and usually associated with injury or irritation of a sensory nerve or nerve root.
http://purl.obolibrary.org/obo/SYMP_0000438	toothache	http://purl.obolibrary.org/obo/SYMP_0000099	pain		A pain that is characterized by a pain in, or about, a tooth or teeth.
http://purl.obolibrary.org/obo/SYMP_0000447	bloody sputum	http://purl.obolibrary.org/obo/SYMP_0000431	sputum		A sputum that is characterized by blood or bloody mucus discharged from the air passages caused by common forms of infection in the lungs and airways, such as acute bronchitis or pneumonia. Bloody sputum can also come from cancer of the lung.
http://purl.obolibrary.org/obo/SYMP_0000450	shock	http://purl.obolibrary.org/obo/SYMP_0000528	cardiovascular system symptom		A cardiovascular system symptom that is characterized as a state of profound depression of the vital processes of the body that is characterized by pallor, rapid but weak pulse, rapid and shallow respiration, reduced total blood volume, and low blood pressure and that is caused usually by severe especially crushing injuries, hemorrhage, burns, or major surgery.
http://purl.obolibrary.org/obo/SYMP_0000456	left upper quadrant abdominal pain	http://purl.obolibrary.org/obo/SYMP_0000457	abdominal pain		An abdominal pain that is characterized by occurring in the left upper quadrant abdominal pain of the abdomen that can be caused by a stomach ulcer, acute gastritis, a viral infection, or indigestion, or may be an issue with one's lungs.
http://purl.obolibrary.org/obo/SYMP_0000465	failure to thrive	http://purl.obolibrary.org/obo/SYMP_0000464	lack of expected normal physiological development in childhood		A lack of expected normal physiological development in childhood that is characterized by a decelerated or arrested physical growth (height and weight measurements fall below the third or fifth percentile, or a downward change in growth across two major growth percentiles) and is associated with abnormal growth and development.
http://purl.obolibrary.org/obo/SYMP_0000466	delayed milestones	http://purl.obolibrary.org/obo/SYMP_0000464	lack of expected normal physiological development in childhood		A lack of expected normal physiological development in childhood that is characterized by a failure for a child to reach a significant stage at the predicted age and may include walking or talking.
http://purl.obolibrary.org/obo/SYMP_0000479	abnormality of gait	http://purl.obolibrary.org/obo/SYMP_0000891	musculoskeletal system symptom		Abnormality of gait is a nervous system and musculoskeletal system symptom characterized by a difficulty in the manner of walking or moving on foot.
http://purl.obolibrary.org/obo/SYMP_0000481	persistent vegetative state	http://purl.obolibrary.org/obo/SYMP_0000482	alteration of consciousness		An alteration of consciousness that is characterized by an individual with severe brain damage being in a state of partial arousal rather than true awareness. After four weeks in a vegetative state, the patient is classified as being in a persistent vegetative state. After three months in the US and six months in the UK, the diagnosis is classified as a permanent vegetative state after a non-traumatic brain injury, or, one year after a traumatic injury.
http://purl.obolibrary.org/obo/SYMP_0000482	alteration of consciousness	http://purl.obolibrary.org/obo/SYMP_0000410	neurological and physiological symptom		A neurological and physiological symptom that is characterized by any condition which is significantly different from a normal waking state.
http://purl.obolibrary.org/obo/SYMP_0000495	urethral discharge	http://purl.obolibrary.org/obo/SYMP_0000486	urinary system symptom		A urinary system symptom that is characterized by abnormal purulent or mucoid secretions from the penis or, rarely, the female urethra.
http://purl.obolibrary.org/obo/SYMP_0000502	mixed incontinence (female) (male)	http://purl.obolibrary.org/obo/SYMP_0000492	urinary incontinence		A urinary incontinence that is characterized by urine leakage when you sneeze, cough, laugh, do jarring exercise, or lift something heavy. It is typically a combination of stress and urge incontinence.
http://purl.obolibrary.org/obo/SYMP_0000503	adult failure to thrive	http://purl.obolibrary.org/obo/SYMP_0000473	nutrition, metabolism, and development symptom		A nutrition, metabolism, and development symptom that is characterized by a physical decline in health seen in older adults – typically those with multiple chronic medical conditions – resulting in decreased appetite and poor nutrition, weight loss, inactivity, often accompanied by dehydration, depression, decreasing functional ability, and impaired immune function.
http://purl.obolibrary.org/obo/SYMP_0000505	throat pain	http://purl.obolibrary.org/obo/SYMP_0000099	pain		A pain that is characterized by a painful throat due to inflammation of the fauces and pharynx.
http://purl.obolibrary.org/obo/SYMP_0000510	pallor	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by a deficiency of color especially of the face.
http://purl.obolibrary.org/obo/SYMP_0000511	flushing	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by a markedly red flush in a persons face and often other areas of the skin, from various physiological conditions. Flushing is generally distinguished, despite a close physiological relation between them, from blushing, which is milder, generally restricted to the face or cheeks, and generally assumed to reflect embarrassment. Flushing is also a cardinal symptom of carcinoid syndrome the syndrome that results from hormones (often serotonin or histamine) being secreted into systemic circulation.
http://purl.obolibrary.org/obo/SYMP_0000512	male stress incontinence	http://purl.obolibrary.org/obo/SYMP_0000853	stress incontinence		A stress incontinence that is characterized by a compromised external urinary sphincter muscle resulting from surgical or radiotherapeutic manipulation.
http://purl.obolibrary.org/obo/SYMP_0000524	polyphagia	http://purl.obolibrary.org/obo/SYMP_0000473	nutrition, metabolism, and development symptom		A nutrition, metabolism, and development symptom that is characterized by an excessive appetite or eating.
http://purl.obolibrary.org/obo/SYMP_0000525	transient alteration of awareness	http://purl.obolibrary.org/obo/SYMP_0000482	alteration of consciousness		An alteration of consciousness that is characterized by a brief (transient) episode of losing normal awareness or behavior.
http://purl.obolibrary.org/obo/SYMP_0000526	ascites	http://purl.obolibrary.org/obo/SYMP_0000461	abdominal symptom		An abdominal symptom consisting of an abnormal accumulation of serous fluid in the spaces between tissues and organs in the cavity of the abdomen.
http://purl.obolibrary.org/obo/SYMP_0000529	tachycardia	http://purl.obolibrary.org/obo/SYMP_0000287	arrhythmia		Tachycardia is a cardiovascular system symptom consisting of a relatively rapid heart action whether physiological (as after exercise) or pathological.
http://purl.obolibrary.org/obo/SYMP_0000533	post-void dribbling	http://purl.obolibrary.org/obo/SYMP_0000492	urinary incontinence		A urinary incontinence that is characterized by urine remaining in the urethra after voiding the bladder that slowly leaks out after urination.
http://purl.obolibrary.org/obo/SYMP_0000538	edema	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by an abnormal excess accumulation of serous fluid in connective tissue or in a serous cavity.
http://purl.obolibrary.org/obo/SYMP_0000544	transient paralysis of limb	http://purl.obolibrary.org/obo/SYMP_0000030	paralysis		A paralysis that is characterized by a loss of some, or all, muscle control in a limb, and which lasts for only a short time (i.e. is temporary).
http://purl.obolibrary.org/obo/SYMP_0000552	meningismus	http://purl.obolibrary.org/obo/SYMP_0000480	nervous system symptom		A nervous system symptom that is characterized by a state of meningeal irritation with symptoms suggesting meningitis that often occurs at the onset of acute febrile diseases especially in children.
http://purl.obolibrary.org/obo/SYMP_0000557	urinary retention	http://purl.obolibrary.org/obo/SYMP_0000486	urinary system symptom		A urinary system symptom that is characterized by an inability to empty the bladder completely during the process of voiding (urination).
http://purl.obolibrary.org/obo/SYMP_0000558	incomplete bladder emptying	http://purl.obolibrary.org/obo/SYMP_0000486	urinary system symptom		A urinary system symptom that is characterized by a bladder that is not empty.
http://purl.obolibrary.org/obo/SYMP_0000563	urinary frequency	http://purl.obolibrary.org/obo/SYMP_0000486	urinary system symptom		A urinary system symptom that is characterized by the need to urinate many times during the day, at night, or both but in normal or less-than-normal volumes.  Frequency may be accompanied by a sensation of an urgent need to void (urgency of urination).
http://purl.obolibrary.org/obo/SYMP_0000564	nocturia	http://purl.obolibrary.org/obo/SYMP_0000486	urinary system symptom		A urinary system symptom that is characterized by urination at night especially when excessive.
http://purl.obolibrary.org/obo/SYMP_0000565	polyuria	http://purl.obolibrary.org/obo/SYMP_0000486	urinary system symptom		A urinary system symptom that is characterized by the excessive secretion of urine.
http://purl.obolibrary.org/obo/SYMP_0000571	insomnia	http://purl.obolibrary.org/obo/SYMP_0000566	sleep disturbance		Insomnia is a sleep disturbance characterized by prolonged and usually abnormal inability to obtain adequate sleep.
http://purl.obolibrary.org/obo/SYMP_0000572	splitting of urinary stream	http://purl.obolibrary.org/obo/SYMP_0000573	urinary stream symptom		A urinary stream symptom that is characterized by a split in the urine flow resulting in it streaming in two directions.
http://purl.obolibrary.org/obo/SYMP_0000581	sleep apnea	http://purl.obolibrary.org/obo/SYMP_0000600	apnea		An apnea that is characterized by brief periods of recurrent cessation of breathing during sleep that is caused especially by obstruction of the airway or a disturbance in the brain's respiratory center and is associated especially with excessive daytime sleepiness.
http://purl.obolibrary.org/obo/SYMP_0000582	hypersomnia	http://purl.obolibrary.org/obo/SYMP_0000566	sleep disturbance		Hypersomnia is a sleep disturbance characterized by sleeping for excessive periods at intervals with intervening periods of normal duration of sleeping and waking.
http://purl.obolibrary.org/obo/SYMP_0000586	overflow incontinence	http://purl.obolibrary.org/obo/SYMP_0000492	urinary incontinence		A urinary incontinence that is characterized by a bladder that does not empty completely, resulting in a bladder that is too full, which leads to overflow and unexpected leaking.
http://purl.obolibrary.org/obo/SYMP_0000588	extravasation of urine	http://purl.obolibrary.org/obo/SYMP_0000486	urinary system symptom		A urinary system symptom that is characterized by an injury of the urethra in its bulbous or membranous portion, which leads to a collection of urine in other cavities, such as the perineal space, the scrotum, the penis and the connective tissue of the anterior abdominal wall.
http://purl.obolibrary.org/obo/SYMP_0000589	slowing of urinary stream	http://purl.obolibrary.org/obo/SYMP_0000573	urinary stream symptom		A urinary stream symptom that is characterized by a slow or weak stream of urine.
http://purl.obolibrary.org/obo/SYMP_0000590	urinary urgency	http://purl.obolibrary.org/obo/SYMP_0000486	urinary system symptom		A urinary system symptom that is characterized by a strong and immediate need to urinate due to an increase in pressure in the bladder, resulting in difficulty to hold in the urine. This can occur regardless of whether the bladder is full.
http://purl.obolibrary.org/obo/SYMP_0000598	respiratory abnormality	http://purl.obolibrary.org/obo/SYMP_0000514	respiratory system and chest symptom		A respiratory system and chest symptom that is characterized by a respiration that is not normal and may include, but is not limited to: apnea, eupnea, orthopnea, dyspnea hyperpnea, hyperventilation, hypoventilation, tachypnea, Kussmaul respiration, Cheyne-Stokes respiration, sighing respiration, Biot respiration, apneustic breathing, central neurogenic hyperventilation, and central neurogenic hypoventilation.
http://purl.obolibrary.org/obo/SYMP_0000599	cheyne-stokes respiration	http://purl.obolibrary.org/obo/SYMP_0000598	respiratory abnormality		A respiratory abnormality that is characterized by a specific form of periodic breathing (waxing and waning amplitude of flow or tidal volume) characterized by a crescendo-decrescendo pattern of respiration between central apneas or central hypopneas.
http://purl.obolibrary.org/obo/SYMP_0000601	hyperventilation	http://purl.obolibrary.org/obo/SYMP_0000598	respiratory abnormality		A respiratory abnormality that is characterized by excessive ventilation characterized by excessive rate and depth of respiration leading to abnormal loss of carbon dioxide from the blood.
http://purl.obolibrary.org/obo/SYMP_0000603	tachypnea	http://purl.obolibrary.org/obo/SYMP_0000598	respiratory abnormality		A respiratory abnormality that is characterized by an increased rate of respiration and shallow breathing.
http://purl.obolibrary.org/obo/SYMP_0000607	hallucination	http://purl.obolibrary.org/obo/SYMP_0000567	general symptom		Hallucination is a general symptom where there is a perception of something (as a visual image or a sound) with no external cause usually arising from a disorder of the nervous system (as in delirium tremens or in functional psychosis without known neurological disease) or in response to drugs (as LSD).
http://purl.obolibrary.org/obo/SYMP_0000608	syncope and collapse	http://purl.obolibrary.org/obo/SYMP_0000482	alteration of consciousness		An alteration of consciousness that is characterized by a loss of consciousness resulting from insufficient blood flow to the brain and limb weakness progressing to collapse.
http://purl.obolibrary.org/obo/SYMP_0000609	generalized hyperhidrosis	http://purl.obolibrary.org/obo/SYMP_0000410	neurological and physiological symptom		A neurological and physiological symptom that is characterized by excessive sweating, i.e. the production of more sweat than is required to regulate body temperature.  Generalized hyperhidrosis is caused by non-thermoregulatory stimuli and affects the entire body.
http://purl.obolibrary.org/obo/SYMP_0000620	left lower quadrant abdominal pain	http://purl.obolibrary.org/obo/SYMP_0000457	abdominal pain		An abdominal pain that is characterized by occurring in the left lower quadrant of the abdomen that is often related to the digestive tract, but can also be related to conditions of the body wall, skin, blood vessels, urinary tract, or reproductive organs.
http://purl.obolibrary.org/obo/SYMP_0000621	alexia	http://purl.obolibrary.org/obo/SYMP_0000508	aphasia		An aphasia that is characterized by a loss of ability to read.
http://purl.obolibrary.org/obo/SYMP_0000625	conscious disturbance	http://purl.obolibrary.org/obo/SYMP_0000482	alteration of consciousness		An alteration of consciousness that is characterized by a disturbance in sentience (the ability to experience feelings and sensations) or awareness of one's internal and external existence, i.e. inhibited or absent self-awareness.
http://purl.obolibrary.org/obo/SYMP_0000629	exanthema	http://purl.obolibrary.org/obo/SYMP_0000487	rash		A rash characterized by a widespread skin eruption usually occurring in children that is a symptom of a more general disease.
http://purl.obolibrary.org/obo/SYMP_0000638	papular rash	http://purl.obolibrary.org/obo/SYMP_0000487	rash		A rash characterized by papule(s), which are a raised area of the skin.
http://purl.obolibrary.org/obo/SYMP_0000640	ankle rash	http://purl.obolibrary.org/obo/SYMP_0000487	rash		A rash characterized by an inflammatory reaction of the skin on the ankles.
http://purl.obolibrary.org/obo/SYMP_0000643	respiratory failure	http://purl.obolibrary.org/obo/SYMP_0000514	respiratory system and chest symptom		A respiratory system and chest symptom that is characterized by a difficulty to breathe on one's own and develops when the lungs cannot get enough oxygen into the blood.
http://purl.obolibrary.org/obo/SYMP_0000647	tache noire	http://purl.obolibrary.org/obo/SYMP_0000136	skin ulcer		A skin ulcer that is characterized by a a small dark-centered ulcer that appears at the site of a tick bite and is the primary lesion of boutonneuse fever.
http://purl.obolibrary.org/obo/SYMP_0000654	irritability	http://purl.obolibrary.org/obo/SYMP_0019182	behavioral symptom		A behavioral symptom that is characterized by a quick excitability to annoyance, impatience, or anger.
http://purl.obolibrary.org/obo/SYMP_0000659	pareses	http://purl.obolibrary.org/obo/SYMP_0000030	paralysis		A paralysis that is charachterized by a slight or partial paralysis.
http://purl.obolibrary.org/obo/SYMP_0000660	purpuric rash	http://purl.obolibrary.org/obo/SYMP_0000487	rash		A rash characterized by a red or purple hued small spots of blood appear on the skin caused by conditions that result in blood leaking into the skin and other body surfaces that does not fade when pressed upon.
http://purl.obolibrary.org/obo/SYMP_0000662	shakes	http://purl.obolibrary.org/obo/SYMP_0000567	general symptom		Shakes is a general symptom characterized by a condition of trembling.
http://purl.obolibrary.org/obo/SYMP_0000666	abnormal behavior	http://purl.obolibrary.org/obo/SYMP_0019182	behavioral symptom		A behavioral symptom that is characterized by behavior that is atypical or statistically uncommon within a particular culture, or that is maladaptive, or detrimental to an individual, or those around that individual.
http://purl.obolibrary.org/obo/SYMP_0000676	acute enteritis	http://purl.obolibrary.org/obo/SYMP_0000039	enteritis		Acute enteritis is a enteritis with either or both a rapid onset and a short course which is usually due to bacteria or virus.
http://purl.obolibrary.org/obo/SYMP_0000678	acute mental dysfunction	http://purl.obolibrary.org/obo/SYMP_0000480	nervous system symptom		A nervous system symptom that is characterized by a severe and sudden onset of disturbance in the normal operation of one's cognition, emotional regulation, or behaviour.
http://purl.obolibrary.org/obo/SYMP_0000681	aggressive behavior	http://purl.obolibrary.org/obo/SYMP_0019182	behavioral symptom		A behavioral symptom that is characterized by behavior aimed at harming a person, or animal, or damaging physical property.
http://purl.obolibrary.org/obo/SYMP_0000688	circling movement	http://purl.obolibrary.org/obo/SYMP_0000594	abnormal involuntary movement		An abnormal involuntary movement that is characterized by an inability to walk in a straight line.
http://purl.obolibrary.org/obo/SYMP_0000695	decreased milk production	http://purl.obolibrary.org/obo/SYMP_0000473	nutrition, metabolism, and development symptom		A nutrition, metabolism, and development symptom that is characterized by a decrease in the production of milk in breastfeeding mothers.
http://purl.obolibrary.org/obo/SYMP_0000698	decreased sucking	http://purl.obolibrary.org/obo/SYMP_0000522	feeding difficulties and mismanagement		A feeding difficulties and mismanagement that is characterized by a decrease in muscle coordination to form a suck response so that the child can ingest milk.
http://purl.obolibrary.org/obo/SYMP_0000705	expressive aphasia	http://purl.obolibrary.org/obo/SYMP_0000508	aphasia		An aphasia that is characterized by damage to, or a developmental issues in, the anterior regions of the brain, including (but not limited to) the left inferior frontal region known as Broca's area. Sufferers of this form of aphasia exhibit the common problem of agrammatism. For them, speech is difficult to initiate, non-fluent, labored, and halting.
http://purl.obolibrary.org/obo/SYMP_0000718	loss of consciousness	http://purl.obolibrary.org/obo/SYMP_0000410	neurological and physiological symptom		A neurological and physiological symptom that is characterized by a state in which an individual lacks normal awareness of self and the surrounding environment and one's ability to remain awake, aware, and oriented is impaired.
http://purl.obolibrary.org/obo/SYMP_0000719	memory impairment	http://purl.obolibrary.org/obo/SYMP_0000410	neurological and physiological symptom		A neurological and physiological symptom that is characterized by a diminished or reduced ability to remember things such as dates and names, and increased forgetfulness.
http://purl.obolibrary.org/obo/SYMP_0000730	rapid respiration	http://purl.obolibrary.org/obo/SYMP_0000598	respiratory abnormality		A respiratory abnormality that is characterized by an increased breathing rate, with more than 20 breaths per minute in an adult, while in children, the number of breaths per minute can be a higher resting rate than seen in adults.
http://purl.obolibrary.org/obo/SYMP_0000739	bronchopulmonary bleeding	http://purl.obolibrary.org/obo/SYMP_0000514	respiratory system and chest symptom		A respiratory system and chest symptom that is characterized by bleeding (hemorrhage) in either or both the bronchi and the lungs.
http://purl.obolibrary.org/obo/SYMP_0000746	enanthem	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by an eruption on a mucous surface.
http://purl.obolibrary.org/obo/SYMP_0000759	parotid pain	http://purl.obolibrary.org/obo/SYMP_0000099	pain		A pain that is characterized by a pain situated, or occurring, in the parotid gland, which is a salivary gland located in front of the ears. (Additional salivary glands include the submandibular and sublingual glands.) Pain is attributed to swelling of the gland.
http://purl.obolibrary.org/obo/SYMP_0000760	petechiae	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by a minute reddish or purplish spot containing blood that appears in skin or mucous membrane as a result of localized hemorrhage.
http://purl.obolibrary.org/obo/SYMP_0000764	retrobulbar pain	http://purl.obolibrary.org/obo/SYMP_0000099	pain		A pain that is characterized by a pain situated, or occurring, behind the eyeball.
http://purl.obolibrary.org/obo/SYMP_0000768	testicular pain	http://purl.obolibrary.org/obo/SYMP_0000099	pain		A pain that is characterized by a pain in, or about, a testis (testicle) or testes. Testicular pain can be caused by nerve damage, sexually transmitted infections, gangrene, swelling, hernia, kidney stones, inflammation, enlarged veins, fluid in the testicle, or a severe condition known as testicular torsion.
http://purl.obolibrary.org/obo/SYMP_0000824	junctional tachycardia	http://purl.obolibrary.org/obo/SYMP_0000529	tachycardia		Junctional tachycardia is a tachycardia associated with the generation of impulses in a locus in the region of the atrioventricular node.
http://purl.obolibrary.org/obo/SYMP_0000825	paroxysmal tachycardia	http://purl.obolibrary.org/obo/SYMP_0000529	tachycardia		Paroxysmal tachycardia is a tachycardia that begins and ends abruptly and that is initiated by a premature supraventricular beat originating in the atrium or in the atrioventricular node or bundle of His or by a premature ventricular beat.
http://purl.obolibrary.org/obo/SYMP_0000826	sinus tachycardia	http://purl.obolibrary.org/obo/SYMP_0000529	tachycardia		Sinus tachycardia is a tachychardia characterized by an abnormally rapid sinus rhythm specifically a sinus rhythm at a rate greater than 100 beats per minute.
http://purl.obolibrary.org/obo/SYMP_0000827	ventricular tachycardia	http://purl.obolibrary.org/obo/SYMP_0000529	tachycardia		A tachycardia that is associated with the generation of improper electrical impulses within the ventricles, characterized by an electrocardiogram showing a rate of greater than 120 BPM and three or more wide QRS complexes in a row.
http://purl.obolibrary.org/obo/SYMP_0000830	phantom pain	http://purl.obolibrary.org/obo/SYMP_0000099	pain		A pain that is characterized by a painful sensation that is perceived to originate in the amputated portion of the extremety. Patients may have localized pain that originates in the stump.
http://purl.obolibrary.org/obo/SYMP_0000831	nociceptive pain	http://purl.obolibrary.org/obo/SYMP_0000099	pain		A pain that is characterized by originating from other than the peripheral and central nervous systems, and which is caused by activation of nociceptive fibers.
http://purl.obolibrary.org/obo/SYMP_0000832	neuropathic pain	http://purl.obolibrary.org/obo/SYMP_0000099	pain		A pain that is characterized by being experienced by cancer patients and which is caused by radiotherapy or chemotherapy damage to nerves, when cancer invades or compresses nerves, or when, during cancer treatment. This type of pain is typically described as burning, electrical, or strange feeling.
http://purl.obolibrary.org/obo/SYMP_0000834	hypoesthesia	http://purl.obolibrary.org/obo/SYMP_0000892	sensation perception		A sensation perception that is characterized by a reduced sense of touch or sensation, or a partial loss of sensitivity to sensory stimuli.
http://purl.obolibrary.org/obo/SYMP_0000835	hypoalgesia	http://purl.obolibrary.org/obo/SYMP_0000892	sensation perception		A sensation perception that is characterized by a diminished sensitivity to painful stimulation.
http://purl.obolibrary.org/obo/SYMP_0000836	hyperalgesia	http://purl.obolibrary.org/obo/SYMP_0000892	sensation perception		A sensation perception that is characterized by an increased response to a painful stimulus.
http://purl.obolibrary.org/obo/SYMP_0000837	chronic pain	http://purl.obolibrary.org/obo/SYMP_0000099	pain		A pain that is characterized by ranging from mild to severe and which continues beyond the expected healing phase.
http://purl.obolibrary.org/obo/SYMP_0000839	acute pain	http://purl.obolibrary.org/obo/SYMP_0000099	pain		A pain that is characterized by being severe but lasting a relatively short time.
http://purl.obolibrary.org/obo/SYMP_0000840	allodynia	http://purl.obolibrary.org/obo/SYMP_0000099	pain		A pain that is characterized by a painful sensation with a normal, non-painful stimulation.
http://purl.obolibrary.org/obo/SYMP_0000841	reactive hyperemia	http://purl.obolibrary.org/obo/SYMP_0000299	hyperemia		Reactive hyperemia is a hyperemia occurring due to the dilation of arteriolar smooth muscle to increase blood flow in response to a profound increase in blood flow to an organ after being occluded. There will be a shortage of oxygen and a build-up of metabolic waste.
http://purl.obolibrary.org/obo/SYMP_0000843	functional hyperemia	http://purl.obolibrary.org/obo/SYMP_0000299	hyperemia		Functional hyperemia is a hyperemia occurring due to an increase in blood flow to a tissue due to the presence of metabolites and a change in general conditions.
http://purl.obolibrary.org/obo/SYMP_0000845	hyperemia of the neck	http://purl.obolibrary.org/obo/SYMP_0000384	neck symptom		Hyperemia of the neck is a neck symptom consisting of an excess of blood in the tissues of the neck as from an increased flow of blood due to vasodilation.
http://purl.obolibrary.org/obo/SYMP_0000847	spastic paralysis	http://purl.obolibrary.org/obo/SYMP_0000030	paralysis		A paralysis that is characterized by a tonic spasm of the affected muscles and with increased tendon reflexes.
http://purl.obolibrary.org/obo/SYMP_0000848	motor paralysis	http://purl.obolibrary.org/obo/SYMP_0000030	paralysis		A paralysis that is characterized by a complete or partial loss of function the voluntary muscles.
http://purl.obolibrary.org/obo/SYMP_0000850	congested sclera	http://purl.obolibrary.org/obo/SYMP_0000299	hyperemia		Congested sclera is a hyperemia characterized as the congestion of the vessels of the outer layer of the eye containing collagen and elastic fibers.
http://purl.obolibrary.org/obo/SYMP_0000851	gross hematuria	http://purl.obolibrary.org/obo/SYMP_0000040	hematuria		A hematuria that is characterized by the production of a visible redness in the urine.
http://purl.obolibrary.org/obo/SYMP_0000853	stress incontinence	http://purl.obolibrary.org/obo/SYMP_0000492	urinary incontinence		A urinary incontinence that is characterized by an involuntary leakage of urine from the bladder accompanying physical activity (as in laughing, coughing, sneezing, or physical exercise) which places increased pressure on the abdomen.
http://purl.obolibrary.org/obo/SYMP_0000856	subjective vertigo	http://purl.obolibrary.org/obo/SYMP_0000399	vertigo		A vertigo that is characterized by a sensation that one's body is revolving in space.
http://purl.obolibrary.org/obo/SYMP_0000859	rigidity hypokinesia	http://purl.obolibrary.org/obo/SYMP_0000858	hypokinesia		Rigidity hypokinesia a type of hypokinesia described as the increase in muscle tension when moved by an outside force.
http://purl.obolibrary.org/obo/SYMP_0000860	postural instability hypokinesia	http://purl.obolibrary.org/obo/SYMP_0000858	hypokinesia		Postural instability hypokinesia is a hypokinesia described as a loss of ability to maintain an upright posture.
http://purl.obolibrary.org/obo/SYMP_0000861	freezing hypokinesia	http://purl.obolibrary.org/obo/SYMP_0000858	hypokinesia		Freezing hypokinesia is a hypkinesia where a person can not move their muscles how they want them to.
http://purl.obolibrary.org/obo/SYMP_0000862	referred pain	http://purl.obolibrary.org/obo/SYMP_0000099	pain		A pain that is characterized by pain which is subjectively localized in one region although it is due to irritation in another region.
http://purl.obolibrary.org/obo/SYMP_0000863	facial tremor	http://purl.obolibrary.org/obo/SYMP_0000387	head symptom		Facial tremor is a head symptom characterized by a trembling or shaking of the muscles of the face usually from physical weakness, emotional stress, or disease, may be emphasized by the firm closure of the eyes, elevation of the eyebrows, or drawing down and outward of the corners of the mouth.
http://purl.obolibrary.org/obo/SYMP_0000867	gastrointestinal bleeding	http://purl.obolibrary.org/obo/SYMP_0000459	digestive system symptom		A digestive system symptom characterized by bleeding from one or more of the areas of the digestive or gastrointestinal (GI) tract that includes the espophagus, stomach, small intestine, large intestine or colon, rectum and anus.
http://purl.obolibrary.org/obo/SYMP_0000871	icteric mucous membrane	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by yellowed mucous membranes due to bile or bilirubin accumulation.
http://purl.obolibrary.org/obo/SYMP_0000872	icteric skin	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by yellowed skin due to bile or bilirubin accumulation.
http://purl.obolibrary.org/obo/SYMP_0000874	hematoma	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by a mass of usually clotted blood that forms in a tissue, organ, or body space as a result of a broken blood vessel generally the result of hemorrhage, or more specifically, internal bleeding.
http://purl.obolibrary.org/obo/SYMP_0000875	lameness	http://purl.obolibrary.org/obo/SYMP_0000891	musculoskeletal system symptom		Lameness is a musculoskeletal system symptom where a person is physically disabled as the result of having a body part and especially a limb so disabled as to impair freedom of movement.
http://purl.obolibrary.org/obo/SYMP_0000876	pericardial effusion	http://purl.obolibrary.org/obo/SYMP_0000528	cardiovascular system symptom		Pericardial effusion is a cardiovascular system symptom where there is an abnormal accumulation of fluid in the pericardial cavity.
http://purl.obolibrary.org/obo/SYMP_0000893	hypotensive	http://purl.obolibrary.org/obo/SYMP_0000692	low blood pressure		A low blood pressure characterized by or due to abnormally low blood pressure, especially in the arteries of the systemic circulation.
http://purl.obolibrary.org/obo/SYMP_0000894	cold clammy skin	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by cold, moist and sticky skin.
http://purl.obolibrary.org/obo/SYMP_0019147	hematemesis	http://purl.obolibrary.org/obo/SYMP_0019145	vomiting		A vomiting where there is vomiting of blood.
http://purl.obolibrary.org/obo/SYMP_0019154	hemorrhagic mediastinitis	http://purl.obolibrary.org/obo/SYMP_0000514	respiratory system and chest symptom		A respiratory abnormality that is characterized by inflammation of the mediastinum (the chest cavity, which contains the heart, the thymus gland, some lymph nodes, and parts of the esophagus, aorta, thyroid, and parathyroid glands) as the result of bleeding.
http://purl.obolibrary.org/obo/SYMP_0019160	boil	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by a localized swelling and inflammation of the skin resulting from usually bacterial infection of a hair follicle and adjacent tissue, having a hard central core, and forming pus.
http://purl.obolibrary.org/obo/SYMP_0019167	pustule	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by a small circumscribed elevation of the skin containing pus and having an inflamed base.
http://purl.obolibrary.org/obo/SYMP_0019169	arthritis	http://purl.obolibrary.org/obo/SYMP_0000891	musculoskeletal system symptom		Arthritis is a musculoskeletal system symptom characterized as an inflammation of joints due to infectious, metabolic, or constitutional causes.
http://purl.obolibrary.org/obo/SYMP_0019171	spondylitis	http://purl.obolibrary.org/obo/SYMP_0000480	nervous system symptom		A nervous system symptom that is characterized by an inflammation of the vertebrae.
http://purl.obolibrary.org/obo/SYMP_0019173	meningitis	http://purl.obolibrary.org/obo/SYMP_0000480	nervous system symptom		A nervous system symptom that is characterized by an inflammation of the meninges and especially of the pia mater and the arachnoid.
http://purl.obolibrary.org/obo/SYMP_0019178	necrotic lesion	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by regions of cell death to living tissue in an organ, which has suffered damage through injury or disease, such as a wound, ulcer, abscess, or tumor.
http://purl.obolibrary.org/obo/SYMP_0019179	lightheadedness	http://purl.obolibrary.org/obo/SYMP_0020045	balance symptom		A  balance symptom that is characterized by a condition of being dizzy or on the verge of fainting, particularly when one arises to a standing position. Lightheadedness is a predictable consequence of any medication tending to lower blood pressure.
http://purl.obolibrary.org/obo/SYMP_0019182	behavioral symptom	http://purl.obolibrary.org/obo/SYMP_0000480	nervous system symptom		A nervous system symptom that is characterized by an involvement, or relation to, or emphasizes behavior.
http://purl.obolibrary.org/obo/SYMP_0019183	hyperactivity	http://purl.obolibrary.org/obo/SYMP_0019182	behavioral symptom		A behavioral symptom that is characterized by an increase in movement, impulsive actions, a shorter attention span, and being easily distracted.
http://purl.obolibrary.org/obo/SYMP_0019184	limited attention	http://purl.obolibrary.org/obo/SYMP_0019182	behavioral symptom		A behavioral symptom that is characterized by a restricted rate of information processing by the brain.
http://purl.obolibrary.org/obo/SYMP_0019185	communication difficulty	http://purl.obolibrary.org/obo/SYMP_0019182	behavioral symptom		A behavioral symptom that is characterized by speech, language and communication needs or communication disabilities.
http://purl.obolibrary.org/obo/SYMP_0019186	obsessive interests	http://purl.obolibrary.org/obo/SYMP_0019182	behavioral symptom		A behavioral symptom that is characterized by obsessive and highly-focused interests.
http://purl.obolibrary.org/obo/SYMP_0019187	repetitive behavior	http://purl.obolibrary.org/obo/SYMP_0019182	behavioral symptom		A behavioral symptom that is characterized by an unusual repetitive motor movements or manipulation of objects.
http://purl.obolibrary.org/obo/NCIT_C829	Tobacco Smoke	http://purl.obolibrary.org/obo/DISDRIV_0000006	chemical driver		Smoke from burning tobacco (cigarettes, cigars, or pipes) and exhaled by a smoker. Tobacco smoke contains nicotine, a stimulant, and other biologically active chemicals having carcinogenic properties.
http://purl.obolibrary.org/obo/DOID_0080327	multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis and has_material_basis_in autosomal recessive homozygous mutation in the CEP55 gene on chromosome 10q23.
http://purl.obolibrary.org/obo/DOID_0080328	Culler-Jones syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has_material_basis_in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline facial defects and developmental delay can also be seen. The condition shows incomplete penetrance and high variable expressivity.
http://purl.obolibrary.org/obo/DOID_0080329	cold-induced sweating syndrome 1	http://purl.obolibrary.org/obo/DOID_0060294	cold-induced sweating syndrome		A cold-induced sweating syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CRLF1 gene on chromosome 19p13 and is characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention.
http://purl.obolibrary.org/obo/DOID_0080330	cold-induced sweating syndrome 2	http://purl.obolibrary.org/obo/DOID_0060294	cold-induced sweating syndrome		A cold-induced sweating syndrome that has_material_basis_in compound heterozygous mutation in the CLCF1 gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0080331	cold-induced sweating syndrome 3	http://purl.obolibrary.org/obo/DOID_0060294	cold-induced sweating syndrome		A cold-induced sweating syndrome that has_material_basis_in homozygous mutation in the KLHL7 gene on chromosome 7p15.
http://purl.obolibrary.org/obo/DOID_0080332	bicuspid aortic valve disease	http://purl.obolibrary.org/obo/DOID_62	aortic valve disease		An aortic valve disease that is characterized by the presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives.
http://purl.obolibrary.org/obo/DOID_0080333	aortic valve disease 1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0080334	aortic valve disease 2	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22.
http://purl.obolibrary.org/obo/DOID_0080335	mitochondrial DNA depletion syndrome 12b	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35.
http://purl.obolibrary.org/obo/DOID_0080336	mitochondrial DNA depletion syndrome 14	http://purl.obolibrary.org/obo/DOID_0070329	mitochondrial DNA depletion syndrome		A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29.
http://purl.obolibrary.org/obo/DOID_0080337	mitochondrial DNA depletion syndrome 15	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A mitochondrial DNA depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle and has_material_basis_in homozygous mutation in the TFAM gene on chromosome 10q21.
http://purl.obolibrary.org/obo/DOID_0080338	familial erythrocytosis 3	http://purl.obolibrary.org/obo/DOID_10780	primary polycythemia		A primary polycythemia that has_material_basis_in heterozygous mutation in the EGLN1 gene on chromosome 1q42.
http://purl.obolibrary.org/obo/DOID_0080339	familial erythrocytosis 4	http://purl.obolibrary.org/obo/DOID_10780	primary polycythemia		A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21.
http://purl.obolibrary.org/obo/DOID_0070313	thiamine deficiency disease	http://purl.obolibrary.org/obo/DOID_5113	nutritional deficiency disease		A nutritional deficiency disease that is characterized by low levels of thiamine.
http://purl.obolibrary.org/obo/DOID_0070317	wet beriberi	http://purl.obolibrary.org/obo/DOID_13725	beriberi		A beriberi that is located_in the cardiovascular system and has_symptom increased heart rate, swelling of lower legs, and shortness of breath.
http://purl.obolibrary.org/obo/DOID_0070318	dry beriberi	http://purl.obolibrary.org/obo/DOID_13725	beriberi		A beriberi that is located_in the nervous system and has_symptom difficulty walking, numbness in extremities, tingling in extremities, paralysis of lower legs, difficulty speaking, confusion, and vomiting.
http://purl.obolibrary.org/obo/DOID_0070319	miliaria pustulosa	http://purl.obolibrary.org/obo/DOID_1382	miliaria		A miliaria that is characterized by pustules resulting from inflammation and bacterial infection.
http://purl.obolibrary.org/obo/DOID_0070320	miliaria profunda	http://purl.obolibrary.org/obo/DOID_1382	miliaria		A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash.
http://purl.obolibrary.org/obo/DOID_0070321	miliaria crystallina	http://purl.obolibrary.org/obo/DOID_1382	miliaria		A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located_in the stratum corneum.
http://purl.obolibrary.org/obo/DOID_0070322	childhood hepatocellular carcinoma	http://purl.obolibrary.org/obo/DOID_684	hepatocellular carcinoma		A hepatocellular carcinoma that occurs in children and is characterized by a distinct etiological predisposition, biological behavior, and lower frequency of cirrhosis as compared to adult hepatocellular carcinoma.
http://purl.obolibrary.org/obo/DOID_0070323	childhood acute myeloid leukemia	http://purl.obolibrary.org/obo/DOID_9119	acute myeloid leukemia		A childhood acute myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.
http://purl.obolibrary.org/obo/DOID_0070324	systemic Epstein-Barr virus positive T-cell lymphoma of childhood	http://purl.obolibrary.org/obo/DOID_5823	childhood lymphoma		A childhood lymphoma that is characterized by monoclonal expansion of Epstein-Barr virus-positive T cells with an activated cytotoxic phenotype in tissues or peripheral blood.
http://purl.obolibrary.org/obo/DOID_0070325	malignant childhood adrenal gland pheochromocytoma	http://purl.obolibrary.org/obo/DOID_0050892	adrenal gland pheochromocytoma		An adrenal gland pheochromocytoma that is characterized by rare chromaffin cell tumors which secrete catecholamines, and has a higher prevalence of hereditary factors and metastatis in children than adults.
http://purl.obolibrary.org/obo/DOID_0070326	spitzoid melanoma	http://purl.obolibrary.org/obo/DOID_8923	skin melanoma		A skin melanoma that is characterized by asymmetric shape, diameter greater than 1 cm, a lesion with a deep invasive component, and a high degree of cytologic atypia.
http://purl.obolibrary.org/obo/DOID_0070327	melanoma in congenital melanocytic nevus	http://purl.obolibrary.org/obo/DOID_8923	skin melanoma		A skin melanoma that arises from a congenital melanocytic nevus.
http://purl.obolibrary.org/obo/DOID_0070328	adult hepatocellular carcinoma	http://purl.obolibrary.org/obo/DOID_684	hepatocellular carcinoma		A hepatocellular carcinoma that is characterized by hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure and often develops in the setting of chronic necro-inflammation.
http://purl.obolibrary.org/obo/DOID_0070329	mitochondrial DNA depletion syndrome	http://purl.obolibrary.org/obo/DOID_700	mitochondrial metabolism disease		A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs.
http://purl.obolibrary.org/obo/DOID_0070330	multiple mitochondrial dysfunctions syndrome	http://purl.obolibrary.org/obo/DOID_700	mitochondrial metabolism disease		A mitochondrial metabolism disease that is characterized by reduced function of more than one stage of energy production resulting from mitochondria impairment.
http://purl.obolibrary.org/obo/DOID_0070331	mitochondrial DNA depletion syndrome 8b	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A mitochondrial DNA depletion syndrome that is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype, and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ribonucleotide reductase M2 B gene on chromosome 8q22.
http://purl.obolibrary.org/obo/DOID_0070332	multiple mitochondrial dysfunctions syndrome 6	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A multiple mitochondrial dysfunctions syndrome that is characterized by hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity with onset in early childhood and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the PMPCB gene on chromosome 7q22.
http://purl.obolibrary.org/obo/DOID_0080504	Parkinson's disease 22	http://purl.obolibrary.org/obo/DOID_0060892	late onset Parkinson's disease		A late onset Parkinson's disease that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the coiled-coil-helix-coiled-coil-helix domain containing 2 gene on chromosome 7p11.2.
http://purl.obolibrary.org/obo/DOID_0080505	Cornelia de Lange syndrome 1	http://purl.obolibrary.org/obo/DOID_11725	Cornelia de Lange syndrome		A Cornelia de Lange syndrome characterized by facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, impaired intellectual development, and, in many cases, upper limb anomalies that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13.
http://purl.obolibrary.org/obo/DOID_0080506	Cornelia de Lange syndrome 2	http://purl.obolibrary.org/obo/DOID_11725	Cornelia de Lange syndrome		A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11.
http://purl.obolibrary.org/obo/DOID_0080507	Cornelia de Lange syndrome 3	http://purl.obolibrary.org/obo/DOID_11725	Cornelia de Lange syndrome		A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2.
http://purl.obolibrary.org/obo/DOID_0080508	Cornelia de Lange syndrome 4	http://purl.obolibrary.org/obo/DOID_11725	Cornelia de Lange syndrome		A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24.
http://purl.obolibrary.org/obo/DOID_0080509	Cornelia de Lange syndrome 5	http://purl.obolibrary.org/obo/DOID_11725	Cornelia de Lange syndrome		A Cornelia de Lange syndrome that has_material_basis_in by mutation in the HDAC8 gene on chromosome Xq13.
http://purl.obolibrary.org/obo/DOID_0080510	epidermolysis bullosa simplex 1C	http://purl.obolibrary.org/obo/DOID_4644	epidermolysis bullosa simplex		An epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet and that has_material_basis_in heterozygous mutation in the keratin-14 gene (KRT14) on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0080511	generalized intermediate epidermolysis bullosa simplex 1B	http://purl.obolibrary.org/obo/DOID_4644	epidermolysis bullosa simplex		An epidermolysis bullosa simplex that is characterized by widespread blisters that appear at birth or in early infancy and has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0080512	Meier-Gorlin syndrome 1	http://purl.obolibrary.org/obo/DOID_0060306	Meier-Gorlin syndrome		A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC1 gene on chromosome 1p32.
http://purl.obolibrary.org/obo/DOID_0080513	Meier-Gorlin syndrome 2	http://purl.obolibrary.org/obo/DOID_0060306	Meier-Gorlin syndrome		A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC4 gene on chromosome 2q23.
http://purl.obolibrary.org/obo/DOID_0080514	Meier-Gorlin syndrome 3	http://purl.obolibrary.org/obo/DOID_0060306	Meier-Gorlin syndrome		A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC6 gene on chromosome 16q11.
http://purl.obolibrary.org/obo/DOID_0080515	Meier-Gorlin syndrome 4	http://purl.obolibrary.org/obo/DOID_0060306	Meier-Gorlin syndrome		A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDT1 gene on chromosome 16q24.
http://purl.obolibrary.org/obo/DOID_0080516	Meier-Gorlin syndrome 5	http://purl.obolibrary.org/obo/DOID_0060306	Meier-Gorlin syndrome		A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDC6 gene on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0080517	Meier-Gorlin syndrome 6	http://purl.obolibrary.org/obo/DOID_0060306	Meier-Gorlin syndrome		A Meier-Gorlin syndrome that has_material_basis_in heterozygous mutation in the GMNN gene on chromosome 6p22.
http://purl.obolibrary.org/obo/DOID_0080518	Meier-Gorlin syndrome 7	http://purl.obolibrary.org/obo/DOID_0060306	Meier-Gorlin syndrome		A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDC45 gene on chromosome 22q11.
http://purl.obolibrary.org/obo/DOID_0080519	PAPA syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by pyoderma gangrenosum, pyogenic arthritis, acne and suppurative hidradenitis and heterozygous mutation in the PSTPIP1 gene on chromosome 15q24.
http://purl.obolibrary.org/obo/DOID_0080520	Tn polyagglutination syndrome	http://purl.obolibrary.org/obo/DOID_74	hematopoietic system disease		A hematopoietic system disease that is characterized by red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns and has_material_basis_in somatic mutation in the C1GALT1C1 gene on chromosome Xq24.
http://purl.obolibrary.org/obo/DOID_0080521	lung non-squamous non-small cell carcinoma	http://purl.obolibrary.org/obo/DOID_3908	lung non-small cell carcinoma		A lung non-small cell carcinoma that is characterized by the lack of evidence of squamous differentiation.
http://purl.obolibrary.org/obo/DOID_0080522	anaplastic thyroid carcinoma	http://purl.obolibrary.org/obo/DOID_3963	thyroid gland carcinoma		A thyroid gland carcinoma that is composed of undifferentiated cells.
http://purl.obolibrary.org/obo/DOID_0080523	adult-onset leukoencephalopathy with axonal spheroids and pigmented glia	http://purl.obolibrary.org/obo/DOID_10579	leukodystrophy		A leukodystrophy that is characterized by progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy and has_material_basis_in heterozygous mutation in the CSF1R gene on chromosome 5q32.
http://purl.obolibrary.org/obo/DOID_0070404	hypomyelinating leukodystrophy 17	http://purl.obolibrary.org/obo/DOID_0060786	hypomyelinating leukodystrophy		A hypomyelinating leukodystrophy characterized by onset in early infancy of microcephaly and lack of overall development that has_material_basis_in homozygous mutation in the AIMP2 gene on chromosome 7p22.
http://purl.obolibrary.org/obo/DOID_0070475	SMARCB1-deficient renal medullary carcinoma	http://purl.obolibrary.org/obo/DOID_4450	renal cell carcinoma		A renal cell carcinoma that develops in the renal medulla.
http://purl.obolibrary.org/obo/DOID_0070476	diphthamide deficiency syndrome	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An inherited metabolic disorder characterized by global developmental delay, short stature, dysmorphic craniofacial features, and sparse hair that has_material_basis_in deficient diphthamidylation of the eukaryotic translation Elongation Factor 2 protein (gene: EEF2).
http://purl.obolibrary.org/obo/DOID_0070477	diphthamide deficiency syndrome 1	http://purl.obolibrary.org/obo/DOID_0070476	diphthamide deficiency syndrome		A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DPH1 gene on chromosome 17p13.3.
http://purl.obolibrary.org/obo/DOID_0070478	diphthamide deficiency syndrome 2	http://purl.obolibrary.org/obo/DOID_0070476	diphthamide deficiency syndrome		A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the DPH2 gene on chromosome 1p34.1.
http://purl.obolibrary.org/obo/DOID_0070479	neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties	http://purl.obolibrary.org/obo/DOID_0070476	diphthamide deficiency syndrome		An diphthamide deficiency syndrome characterized by distinct craniofacial features, multisystem dysfunction, profound neurodevelopmental delays, and neonatal death that has_material_basis_in homozygous or compound heterozygous mutation in the DPH5 gene on chromosome 1p21.2.
http://purl.obolibrary.org/obo/DOID_0070480	schwannomatosis 1	http://purl.obolibrary.org/obo/DOID_3204	schwannomatosis		A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23.
http://purl.obolibrary.org/obo/DOID_0070481	schwannomatosis 2	http://purl.obolibrary.org/obo/DOID_3204	schwannomatosis		A schwannomatosis that has_material_basis_in germline heterozygous mutation in the LZTR1 gene on chromosome 22q11.2.
http://purl.obolibrary.org/obo/DOID_0070482	spinal neurofibromatosis	http://purl.obolibrary.org/obo/DOID_0111253	neurofibromatosis 1		A neurofibromatosis 1 characterized by bilateral neurofibromas of all spinal roots.
http://purl.obolibrary.org/obo/DOID_0070483	Watson syndrome	http://purl.obolibrary.org/obo/DOID_0080690	RASopathy		A RASopathy characterized by pulmonic stenosis, cafe-au-lait macules, decreased intellectual ability, and short stature that has_material_basis_in heterozygous mutation in the NF1 gene on chromosome 17q11.2.
http://purl.obolibrary.org/obo/DOID_0070484	Legius syndrome	http://purl.obolibrary.org/obo/DOID_0080690	RASopathy		A RASopathy characterized by multiple cafe-au-lait macules and possible skin fold freckling without neurofibromas, optic gliomas, or Lisch nodules that has_material_basis_in heterozygous mutation in the SPRED1 gene on chromosome 15q14.
http://purl.obolibrary.org/obo/DOID_0081378	amyotrophic lateral sclerosis type 24	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that is characterized by adult-onset loss of motor neurons and that has_material_basis_in heterozygous mutation in the NEK1 gene on chromosome 4q33.
http://purl.obolibrary.org/obo/DOID_0081379	amyotrophic lateral sclerosis type 25	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that is characterized by rapidly progressive muscle weakness and death due to respiratory failure and that has_material_basis_in heterozygous mutation in the KIF5A gene on chromosome 12q13. ALS25 may have a lower median age at onset (46.5 years) and longer median survival (10 years) than that found in epidemiologic studies (62.5 years and 20 to 30 months, respectively).
http://purl.obolibrary.org/obo/DOID_0081380	amyotrophic lateral sclerosis type 26	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that is characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness and that has_material_basis_in heterozygous mutation in the TIA1 gene on chromosome 2p13.
http://purl.obolibrary.org/obo/DOID_0081381	juvenile amyotrophic lateral sclerosis type 27	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms and that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22.
http://purl.obolibrary.org/obo/DOID_0081382	amyotrophic lateral sclerosis type 28	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that is characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness and that has_material_basis_in a heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22.
http://purl.obolibrary.org/obo/DOID_0070529	Sifrim-Hitz-Weiss syndrome	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that is characterized by developmental delay, speech delay, usually mild-to-moderate intellectual disability, and variable congenital anomalies in other systems and that has_material_basis_in heterozygous mutation in the CHD4 gene on chromosome 12p13.31.
http://purl.obolibrary.org/obo/DOID_0060931	developmental dysplasia of the hip 1	http://purl.obolibrary.org/obo/DOID_0060930	developmental dysplasia of the hip		A developmental dysplasia of the hip that is characterized by a shallow hip socket and that has_material_basis_in variation in the chromosomal region 13q22.
http://purl.obolibrary.org/obo/DOID_0070551	epidermolytic palmoplantar keratoderma 2	http://purl.obolibrary.org/obo/DOID_0080223	epidermolytic palmoplantar keratoderma		An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13.
http://purl.obolibrary.org/obo/DOID_0081460	thyroid gland mucinous carcinoma	http://purl.obolibrary.org/obo/DOID_3963	thyroid gland carcinoma		A thyroid gland carcinoma that is characterized by the presence of clusters of malignant epithelial cells associated with abundant extracellular mucin deposition.
http://purl.obolibrary.org/obo/DOID_0081459	thyroid gland mixed medullary and follicular cell-derived carcinoma	http://purl.obolibrary.org/obo/DOID_3963	thyroid gland carcinoma		A thyroid gland carcinoma containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell-derived carcinoma component that is immunohistochemically positive for thyroglobulin.
http://purl.obolibrary.org/obo/DOID_0070565	spermatogenic failure 66	http://purl.obolibrary.org/obo/DOID_0112312	male infertility due to globozoospermia		A spermatogenic failure characterized by total globozoospermia that has_material_basis_in homozygous mutation in the ZPBP gene on chromosome 7p12.2.
http://purl.obolibrary.org/obo/DOID_0070566	spermatogenic failure 67	http://purl.obolibrary.org/obo/DOID_0112312	male infertility due to globozoospermia		A spermatogenic failure characterized by globozoospermia that has_material_basis_in homozygous mutation in the CCDC62 gene on chromosome 12q24.31.
http://purl.obolibrary.org/obo/DOID_0070567	spermatogenic failure 68	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by partial globozoospermia that has_material_basis_in homozygous mutation in the C2CD6 gene on chromosome 2q33.1.
http://purl.obolibrary.org/obo/DOID_0070569	spermatogenic failure 70	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by azoospermia or sperm immotility and necrozoospermia that has_material_basis_in homozygous mutation in the PDHA2 gene on chromosome 4q22.3.
http://purl.obolibrary.org/obo/DOID_0070570	spermatogenic failure 71	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by nonobstructive azoospermia that has_material_basis_in homozygous mutation in the ZSWIM7 gene on chromosome 17p12.
http://purl.obolibrary.org/obo/DOID_0070571	spermatogenic failure 72	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in lack of sperm motility, that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14.
http://purl.obolibrary.org/obo/DOID_0070572	spermatogenic failure 73	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by nonobstructive azoospermia due to meiotic arrest that has_material_basis_in homozygous or compound heterozygous mutation in the MOV10L1 gene on chromosome 22q13.33.
http://purl.obolibrary.org/obo/DOID_0070574	spermatogenic failure 75	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by nonobstructive azoospermia resulting from maturation arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the SHOC1 gene on chromosome 9q31.3.
http://purl.obolibrary.org/obo/DOID_0070575	spermatogenic failure 76	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by oligoasthenoteratozoospermia that has_material_basis_in homozygous mutation in the CCDC34 gene on chromosome 11p14.1.
http://purl.obolibrary.org/obo/DOID_0070577	spermatogenic failure 78	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by sperm with abnormal acrosome structure due to a manchette assembly defect that has_material_basis_in homozygous mutation in the IQCN gene on chromosome 19p13.11.
http://purl.obolibrary.org/obo/DOID_0070578	spermatogenic failure 79	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by an abnormal acrosome reaction and impaired membrane potential after capacitation that has_material_basis_in homozygous mutation in the KCNU1 gene on chromosome 8p11.23.
http://purl.obolibrary.org/obo/DOID_0070579	spermatogenic failure 80	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in reduced or absent progressive sperm motility, that has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23.3.
http://purl.obolibrary.org/obo/DOID_0070580	spermatogenic failure 81	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by oligoasthenoteratozoospermia with acrosomal hypoplasia and detachment of the acrosome from the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the TEKT3 gene on chromosome 17p12.
http://purl.obolibrary.org/obo/DOID_0070581	spermatogenic failure 82	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella that has_material_basis_in homozygous mutation in the AKAP3 gene on chromosome 12p13.32.
http://purl.obolibrary.org/obo/DOID_0070582	spermatogenic failure 83	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by asthenozoospermia and multiple flagella morphological defects due to loss in the inner dynein arms that has_material_basis_in homozygous mutation in the DNALI1 gene on chromosome 1p34.3.
http://purl.obolibrary.org/obo/DOID_0070583	spermatogenic failure 84	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in severely reduced motility, that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP61 gene on chromosome 20p11.23.
http://purl.obolibrary.org/obo/DOID_0070585	spermatogenic failure 86	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by acrosomal defects of the spermatozoa, resulting in oocyte activation deficiency and fertilization failure, that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL7A gene on chromosome 9q31.3.
http://purl.obolibrary.org/obo/DOID_0070586	spermatogenic failure 87	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by total fertilization failure due to inability of mutant sperm to penetrate the zona pellucida that has_material_basis_in homozygous mutation in the ACR gene on chromosome 22q13.33.
http://purl.obolibrary.org/obo/DOID_0070588	spermatogenic failure 89	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by severely reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the AK9 gene on chromosome 6q21.
http://purl.obolibrary.org/obo/DOID_0070589	spermatogenic failure 90	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by asthenozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC12 gene on chromosome 6p21.31.
http://purl.obolibrary.org/obo/DOID_0070591	spermatogenic failure 92	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by asthenozoospermia that has_material_basis_in homozygous mutation in the LRRC23 gene on chromosome 12p13.31.
http://purl.obolibrary.org/obo/DOID_0070592	spermatogenic failure 93	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by nonosbtructive azoospermia or multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that has_material_basis_in homozygous mutation in the STK33 gene on chromosome 11p15.4.
http://purl.obolibrary.org/obo/DOID_0070593	spermatogenic failure 94	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that has_material_basis_in homozygous mutation in the CCDC146 gene on chromosome 7q11.23.
http://purl.obolibrary.org/obo/DOID_0070596	X-linked spermatogenic failure 5	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the sperm flagella that has_material_basis_in hemizygous mutation in the SSX1 gene on chromosome Xp11.23.
http://purl.obolibrary.org/obo/DOID_0070597	X-linked spermatogenic failure 6	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the sperm flagella that has_material_basis_in hemizygous mutation in the USP26 gene on chromosome Xq26.2.
http://purl.obolibrary.org/obo/DOID_0070598	X-linked spermatogenic failure 7	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by sperm with insufficient individualization, excessive residual cytoplasm, acrosome defects, and abnormalities of the head and flagella, resulting in significantly reduced sperm concentration and progressive motility, that has_material_basis_in hemizygous mutation in the CT55 gene on chromosome Xq26.3.
http://purl.obolibrary.org/obo/DOID_0070599	X-linked spermatogenic failure 8	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by sperm with head and midpiece defects, deformed and detached acrosomes, and markedly reduced progressive motility that has_material_basis_in hemizygous mutation in the CYLC1 gene on chromosome Xq21.1.
http://purl.obolibrary.org/obo/DOID_0070611	autosomal dominant nonsyndromic deafness 88	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness characterized by postlingual progressive severe sensorineural hearing loss with tinnitus that has_material_basis_in heterozygous mutation in the EPHA10 gene on chromosome 1p34.
http://purl.obolibrary.org/obo/DOID_0061004	poor metabolism of thiopurines 1	http://purl.obolibrary.org/obo/DOID_0080172	poor metabolism of thiopurines		A poor metabolism of thiopurines that has_material_basis_in homozygous or compound heterozygous mutation in the TPMT gene on chromosome 6p22.
http://purl.obolibrary.org/obo/DOID_0070653	Fliedner-Zweier syndrome	http://purl.obolibrary.org/obo/DOID_0050888	syndromic intellectual disability		A syndromic intellectual disability characterized by variable manifestations including mild intellectual disability, seizures, behavioral abnormalities, and skeletal and structural anomalies that has_material_basis_in heterozygous mutation in the SCAF4 gene on chromosome 21q22.
http://purl.obolibrary.org/obo/CHEBI_134063	1,2,5,6,9,10-hexabromocyclododecane	http://purl.obolibrary.org/obo/CHEBI_79314	flame retardant		A bromoalkane consisting of cyclododecane bearing six bromo substituents at positions 1, 2, 5, 6, 9 and 10.
http://purl.obolibrary.org/obo/CHEBI_15354	choline	http://purl.obolibrary.org/obo/CHEBI_33284	nutrient		A choline that is the parent compound of the cholines class, consisting of ethanolamine having three methyl substituents attached to the amino function.
http://purl.obolibrary.org/obo/CHEBI_15956	biotin	http://purl.obolibrary.org/obo/CHEBI_33284	nutrient		An organic heterobicyclic compound that consists of 2-oxohexahydro-1H-thieno[3,4-d]imidazole having a valeric acid substituent attached to the tetrahydrothiophene ring.
http://purl.obolibrary.org/obo/CHEBI_16236	ethanol	http://purl.obolibrary.org/obo/CHEBI_30879	alcohol		A primary alcohol that is ethane in which one of the hydrogens is substituted by a hydroxy group.
http://purl.obolibrary.org/obo/CHEBI_16716	benzene	http://purl.obolibrary.org/obo/DISDRIV_0000006	chemical driver		A six-carbon aromatic annulene in which each carbon atom donates one of its two 2p electrons into a delocalised pi system. A toxic, flammable liquid byproduct of coal distillation, it is used as an industrial solvent. Benzene is a carcinogen that also damages bone marrow and the central nervous system.
http://purl.obolibrary.org/obo/CHEBI_16842	formaldehyde	http://purl.obolibrary.org/obo/DISDRIV_0000006	chemical driver		An aldehyde resulting from the formal oxidation of methanol.
http://purl.obolibrary.org/obo/CHEBI_17514	cyanide	http://purl.obolibrary.org/obo/CHEBI_64909	poison		A pseudohalide anion that is the conjugate base of hydrogen cyanide.
http://purl.obolibrary.org/obo/CHEBI_23888	drug	http://purl.obolibrary.org/obo/DISDRIV_0000006	chemical driver		Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances.
http://purl.obolibrary.org/obo/CHEBI_30879	alcohol	http://purl.obolibrary.org/obo/FOODON_00001579	alcoholic beverage		A compound in which a hydroxy group, -OH, is attached to a saturated carbon atom.
http://purl.obolibrary.org/obo/CHEBI_33284	nutrient	http://purl.obolibrary.org/obo/DISDRIV_0000003	biological driver		A nutrient is a food component that an organism uses to survive and grow.
http://purl.obolibrary.org/obo/CHEBI_53212	isocyanates	http://purl.obolibrary.org/obo/DISDRIV_0000006	chemical driver		Organonitrogen compounds that are derivatives of isocyanic acid; compounds containing the isocyanate functional group -N=C=O.
http://purl.obolibrary.org/obo/CHEBI_76989	phytoestrogen	http://purl.obolibrary.org/obo/CHEBI_138015	endocrine disruptor		Any compound produced by a plant that happens to have estrogenic activity.
http://purl.obolibrary.org/obo/CHEBI_79314	flame retardant	http://purl.obolibrary.org/obo/DISDRIV_0000006	chemical driver		Any compound that is added to manufactured materials to inhibit, suppress, or delay the production of flames and so prevent the spread of fire.
http://purl.obolibrary.org/obo/CHEBI_30440	thallium atom	http://purl.obolibrary.org/obo/CHEBI_5631	heavy metal		A metallic element first identified and named from the brilliant green line in its flame spectrum (from Greek thetaalphalambdalambdaomicronsigma, a green shoot).
http://purl.obolibrary.org/obo/CHEBI_41922	diethylstilbestrol	http://purl.obolibrary.org/obo/DISDRIV_0000006	chemical driver		An olefinic compound that is trans-hex-3-ene in which the hydrogens at positions 3 and 4 have been replaced by p-hydroxyphenyl groups.
http://purl.obolibrary.org/obo/HP_0000370	Abnormality of the middle ear	http://purl.obolibrary.org/obo/HP_0031703	Abnormal ear morphology		
http://purl.obolibrary.org/obo/HP_0000364	Hearing abnormality	http://purl.obolibrary.org/obo/HP_0031704	Abnormal ear physiology		
http://purl.obolibrary.org/obo/HP_0011389	Functional abnormality of the inner ear	http://purl.obolibrary.org/obo/HP_0031704	Abnormal ear physiology		
http://purl.obolibrary.org/obo/DOID_4944	gastroesophageal junction adenocarcinoma	http://purl.obolibrary.org/obo/DOID_0080375	gastroesophageal adenocarcinoma		
http://purl.obolibrary.org/obo/SYMP_0020036	conjunctival degeneration	http://purl.obolibrary.org/obo/SYMP_0020034	conjunctiva symptom		
http://purl.obolibrary.org/obo/SYMP_0020038	conjunctival swelling	http://purl.obolibrary.org/obo/SYMP_0020034	conjunctiva symptom		
http://purl.obolibrary.org/obo/HP_0011729	Abnormality of joint mobility	http://purl.obolibrary.org/obo/HP_0034430	Abnormal joint physiology		
http://purl.obolibrary.org/obo/CHEBI_6128	ketoprofen	http://purl.obolibrary.org/obo/CHEBI_35871	oxo monocarboxylic acid		
http://purl.obolibrary.org/obo/CHEBI_29007	ceftriaxone	http://purl.obolibrary.org/obo/CHEBI_39410	1,2,4-triazines		
http://purl.obolibrary.org/obo/CHEBI_28084	3-(carbamoyloxymethyl)cephalosporin	http://purl.obolibrary.org/obo/CHEBI_23066	cephalosporin		
http://purl.obolibrary.org/obo/CHEBI_8776	ranitidine	http://purl.obolibrary.org/obo/CHEBI_16385	organic sulfide		
http://purl.obolibrary.org/obo/CHEBI_22750	benzylisoquinoline alkaloid	http://purl.obolibrary.org/obo/CHEBI_24921	isoquinoline alkaloid		
http://purl.obolibrary.org/obo/CHEBI_23048	carvones	http://purl.obolibrary.org/obo/CHEBI_25186	p-menthane monoterpenoid		
http://purl.obolibrary.org/obo/CHEBI_25186	p-menthane monoterpenoid	http://purl.obolibrary.org/obo/CHEBI_25409	monoterpenoid		
http://purl.obolibrary.org/obo/CHEBI_36816	oxime O-ether	http://purl.obolibrary.org/obo/CHEBI_35352	organonitrogen compound		
http://purl.obolibrary.org/obo/CHEBI_37407	cyclic ether	http://purl.obolibrary.org/obo/CHEBI_38104	oxacycle		
http://purl.obolibrary.org/obo/CHEBI_51323	cinchona alkaloid	http://purl.obolibrary.org/obo/CHEBI_26509	quinoline alkaloid		
http://purl.obolibrary.org/obo/CHEBI_35992	penams	http://purl.obolibrary.org/obo/CHEBI_38106	organosulfur heterocyclic compound		
http://purl.obolibrary.org/obo/CHEBI_38311	cephem	http://purl.obolibrary.org/obo/CHEBI_38106	organosulfur heterocyclic compound		
http://purl.obolibrary.org/obo/CHEBI_46633	carbapenems	http://purl.obolibrary.org/obo/CHEBI_38101	organonitrogen heterocyclic compound		
http://purl.obolibrary.org/obo/CHEBI_50695	monobactam	http://purl.obolibrary.org/obo/CHEBI_27933	beta-lactam antibiotic		
http://purl.obolibrary.org/obo/CHEBI_88225	beta-lactam antibiotic allergen	http://purl.obolibrary.org/obo/CHEBI_27933	beta-lactam antibiotic		
http://purl.obolibrary.org/obo/CHEBI_32876	tertiary amine	http://purl.obolibrary.org/obo/CHEBI_50996	tertiary amino compound		
http://purl.obolibrary.org/obo/CHEBI_38106	organosulfur heterocyclic compound	http://purl.obolibrary.org/obo/CHEBI_24532	organic heterocyclic compound		
http://purl.obolibrary.org/obo/CHEBI_35850	sulfone	http://purl.obolibrary.org/obo/CHEBI_33261	organosulfur compound		
http://purl.obolibrary.org/obo/CHEBI_26191	polyol	http://purl.obolibrary.org/obo/CHEBI_33822	organic hydroxy compound		
http://purl.obolibrary.org/obo/CHEBI_35350	hydroxy steroid	http://purl.obolibrary.org/obo/CHEBI_35341	steroid		
http://purl.obolibrary.org/obo/CHEBI_35508	steroid fundamental parent	http://purl.obolibrary.org/obo/CHEBI_35507	natural product fundamental parent		
http://purl.obolibrary.org/obo/CHEBI_50858	corticosteroid	http://purl.obolibrary.org/obo/CHEBI_35341	steroid		
http://purl.obolibrary.org/obo/CHEBI_27933	beta-lactam antibiotic	http://purl.obolibrary.org/obo/CHEBI_25558	organonitrogen heterocyclic antibiotic		
http://purl.obolibrary.org/obo/CHEBI_35716	C-nitro compound	http://purl.obolibrary.org/obo/CHEBI_72695	organic molecule		
http://purl.obolibrary.org/obo/CHEBI_59097	tetrachlorophthalic anhydride	http://purl.obolibrary.org/obo/CHEBI_26888	tetrachlorobenzene		
http://purl.obolibrary.org/obo/CHEBI_26513	quinolines	http://purl.obolibrary.org/obo/CHEBI_33659	organic aromatic compound		
http://purl.obolibrary.org/obo/CHEBI_38260	pyrrolidines	http://purl.obolibrary.org/obo/CHEBI_25693	organic heteromonocyclic compound		
http://purl.obolibrary.org/obo/CHEBI_47804	dibenzoazepine	http://purl.obolibrary.org/obo/CHEBI_26979	organic heterotricyclic compound		
http://purl.obolibrary.org/obo/CHEBI_25558	organonitrogen heterocyclic antibiotic	http://purl.obolibrary.org/obo/CHEBI_24531	heterocyclic antibiotic		
http://purl.obolibrary.org/obo/CHEBI_68452	azole	http://purl.obolibrary.org/obo/CHEBI_38179	monocyclic heteroarene		
http://purl.obolibrary.org/obo/CHEBI_38304	diazolidine	http://purl.obolibrary.org/obo/CHEBI_25693	organic heteromonocyclic compound		
http://purl.obolibrary.org/obo/CHEBI_38313	diazines	http://purl.obolibrary.org/obo/CHEBI_25693	organic heteromonocyclic compound		
http://purl.obolibrary.org/obo/CHEBI_46952	oxazinane	http://purl.obolibrary.org/obo/CHEBI_38104	oxacycle		
http://purl.obolibrary.org/obo/CHEBI_38102	triazines	http://purl.obolibrary.org/obo/CHEBI_50893	azaarene		
http://purl.obolibrary.org/obo/CHEBI_6759	mepivacaine	http://purl.obolibrary.org/obo/CHEBI_48592	piperidinecarboxamide		
http://purl.obolibrary.org/obo/CHEBI_82448	N,N'-diethylthiourea	http://purl.obolibrary.org/obo/CHEBI_51276	thioureas		
http://purl.obolibrary.org/obo/CHEBI_24532	organic heterocyclic compound	http://purl.obolibrary.org/obo/CHEBI_33832	organic cyclic compound		
http://purl.obolibrary.org/obo/CHEBI_33670	heteromonocyclic compound	http://purl.obolibrary.org/obo/CHEBI_33661	monocyclic compound		
http://purl.obolibrary.org/obo/CHEBI_503442	gallamine	http://purl.obolibrary.org/obo/CHEBI_32876	tertiary amine		
http://purl.obolibrary.org/obo/CHEBI_28876	melphalan	http://purl.obolibrary.org/obo/CHEBI_84144	L-phenylalanine derivative		
http://purl.obolibrary.org/obo/CHEBI_4027	cyclophosphamide	http://purl.obolibrary.org/obo/CHEBI_35467	phosphorodiamide		
http://purl.obolibrary.org/obo/CHEBI_18208	benzylpenicillin	http://purl.obolibrary.org/obo/CHEBI_88187	penicillin allergen		
http://purl.obolibrary.org/obo/CHEBI_2676	amoxicillin	http://purl.obolibrary.org/obo/CHEBI_88187	penicillin allergen		
http://purl.obolibrary.org/obo/CHEBI_35341	steroid	http://purl.obolibrary.org/obo/CHEBI_51958	organic polycyclic compound		
http://purl.obolibrary.org/obo/CHEBI_24913	isoprenoid	http://purl.obolibrary.org/obo/CHEBI_50860	organic molecular entity		
http://purl.obolibrary.org/obo/CHEBI_35410	primary diamine	http://purl.obolibrary.org/obo/CHEBI_23666	diamine		
http://purl.obolibrary.org/obo/CHEBI_72695	organic molecule	http://purl.obolibrary.org/obo/CHEBI_50860	organic molecular entity		
http://purl.obolibrary.org/obo/CHEBI_22221	acyl group	http://purl.obolibrary.org/obo/CHEBI_33247	organic group		
http://purl.obolibrary.org/obo/CHEBI_59601	patent blue V	http://purl.obolibrary.org/obo/CHEBI_35286	iminium ion		
http://purl.obolibrary.org/obo/CHEBI_35363	carbohydrazide	http://purl.obolibrary.org/obo/CHEBI_35352	organonitrogen compound		
http://purl.obolibrary.org/obo/CHEBI_6030	isoniazide	http://purl.obolibrary.org/obo/CHEBI_35363	carbohydrazide		
http://purl.obolibrary.org/obo/CHEBI_27171	organic heterobicyclic compound	http://purl.obolibrary.org/obo/CHEBI_33672	heterobicyclic compound		
http://purl.obolibrary.org/obo/CHEBI_35259	benzofurans	http://purl.obolibrary.org/obo/CHEBI_38104	oxacycle		
http://purl.obolibrary.org/obo/CHEBI_3770	co-trimoxazole	http://purl.obolibrary.org/obo/CHEBI_60004	mixture		
http://purl.obolibrary.org/obo/CHEBI_37838	carboacyl group	http://purl.obolibrary.org/obo/CHEBI_22221	acyl group		
http://purl.obolibrary.org/obo/CHEBI_38001	2,6-diaminopurines	http://purl.obolibrary.org/obo/CHEBI_22527	aminopurine		
http://purl.obolibrary.org/obo/CHEBI_38265	carvone	http://purl.obolibrary.org/obo/CHEBI_86494	botanical anti-fungal agent		
http://purl.obolibrary.org/obo/CHEBI_24835	inorganic molecular entity	http://purl.obolibrary.org/obo/CHEBI_23367	molecular entity		
http://purl.obolibrary.org/obo/CHEBI_24870	ion	http://purl.obolibrary.org/obo/CHEBI_23367	molecular entity		
http://purl.obolibrary.org/obo/CHEBI_33259	elemental molecular entity	http://purl.obolibrary.org/obo/CHEBI_23367	molecular entity		
http://purl.obolibrary.org/obo/CHEBI_36357	polyatomic entity	http://purl.obolibrary.org/obo/CHEBI_23367	molecular entity		
http://purl.obolibrary.org/obo/CHEBI_25213	metal cation	http://purl.obolibrary.org/obo/CHEBI_36915	inorganic cation		
http://purl.obolibrary.org/obo/CHEBI_23367	molecular entity	http://purl.obolibrary.org/obo/CHEBI_24431	chemical entity		
http://purl.obolibrary.org/obo/CHEBI_33250	atom	http://purl.obolibrary.org/obo/CHEBI_24431	chemical entity		
http://purl.obolibrary.org/obo/CHEBI_24433	group	http://purl.obolibrary.org/obo/CHEBI_24431	chemical entity		
http://purl.obolibrary.org/obo/CHEBI_22928	bromine molecular entity	http://purl.obolibrary.org/obo/CHEBI_24471	halogen molecular entity		
http://purl.obolibrary.org/obo/CHEBI_38101	organonitrogen heterocyclic compound	http://purl.obolibrary.org/obo/CHEBI_35352	organonitrogen compound		
http://purl.obolibrary.org/obo/CHEBI_38166	organic heteropolycyclic compound	http://purl.obolibrary.org/obo/CHEBI_33671	heteropolycyclic compound		
http://purl.obolibrary.org/obo/CHEBI_24531	heterocyclic antibiotic	http://purl.obolibrary.org/obo/CHEBI_24532	organic heterocyclic compound		
http://purl.obolibrary.org/obo/CHEBI_25693	organic heteromonocyclic compound	http://purl.obolibrary.org/obo/CHEBI_33670	heteromonocyclic compound		
http://purl.obolibrary.org/obo/CHEBI_33822	organic hydroxy compound	http://purl.obolibrary.org/obo/CHEBI_50860	organic molecular entity		
http://purl.obolibrary.org/obo/CHEBI_24833	oxoacid	http://purl.obolibrary.org/obo/CHEBI_24651	hydroxides		
http://purl.obolibrary.org/obo/CHEBI_36914	inorganic ion	http://purl.obolibrary.org/obo/CHEBI_24870	ion		
http://purl.obolibrary.org/obo/CHEBI_33958	halide salt	http://purl.obolibrary.org/obo/CHEBI_37578	halide		
http://purl.obolibrary.org/obo/CHEBI_23906	monoatomic cation	http://purl.obolibrary.org/obo/CHEBI_36916	cation		
http://purl.obolibrary.org/obo/CHEBI_24867	monoatomic ion	http://purl.obolibrary.org/obo/CHEBI_33238	monoatomic entity		
http://purl.obolibrary.org/obo/CHEBI_25699	organic ion	http://purl.obolibrary.org/obo/CHEBI_50860	organic molecular entity		
http://purl.obolibrary.org/obo/CHEBI_36358	polyatomic ion	http://purl.obolibrary.org/obo/CHEBI_36357	polyatomic entity		
http://purl.obolibrary.org/obo/CHEBI_36916	cation	http://purl.obolibrary.org/obo/CHEBI_24870	ion		
http://purl.obolibrary.org/obo/CHEBI_24129	furans	http://purl.obolibrary.org/obo/CHEBI_38104	oxacycle		
http://purl.obolibrary.org/obo/CHEBI_26912	oxolanes	http://purl.obolibrary.org/obo/CHEBI_38104	oxacycle		
http://purl.obolibrary.org/obo/CHEBI_24651	hydroxides	http://purl.obolibrary.org/obo/CHEBI_37577	heteroatomic molecular entity		
http://purl.obolibrary.org/obo/CHEBI_26218	potassium salt	http://purl.obolibrary.org/obo/CHEBI_35479	alkali metal salt		
http://purl.obolibrary.org/obo/CHEBI_26714	sodium salt	http://purl.obolibrary.org/obo/CHEBI_35479	alkali metal salt		
http://purl.obolibrary.org/obo/CHEBI_25409	monoterpenoid	http://purl.obolibrary.org/obo/CHEBI_26873	terpenoid		
http://purl.obolibrary.org/obo/CHEBI_23443	cyclic amide	http://purl.obolibrary.org/obo/CHEBI_32988	amide		
http://purl.obolibrary.org/obo/CHEBI_52217	pharmaceutical	http://purl.obolibrary.org/obo/CHEBI_33232	application		
http://purl.obolibrary.org/obo/CHEBI_33521	metal atom	http://purl.obolibrary.org/obo/CHEBI_33250	atom		
http://purl.obolibrary.org/obo/CHEBI_33238	monoatomic entity	http://purl.obolibrary.org/obo/CHEBI_33259	elemental molecular entity		
http://purl.obolibrary.org/obo/CHEBI_36962	organochalcogen compound	http://purl.obolibrary.org/obo/CHEBI_33304	chalcogen molecular entity		
http://purl.obolibrary.org/obo/CHEBI_17792	organohalogen compound	http://purl.obolibrary.org/obo/CHEBI_37578	halide		
http://purl.obolibrary.org/obo/CHEBI_26217	potassium molecular entity	http://purl.obolibrary.org/obo/CHEBI_33296	alkali metal molecular entity		
http://purl.obolibrary.org/obo/CHEBI_26712	sodium molecular entity	http://purl.obolibrary.org/obo/CHEBI_33296	alkali metal molecular entity		
http://purl.obolibrary.org/obo/CHEBI_51143	nitrogen molecular entity	http://purl.obolibrary.org/obo/CHEBI_33302	pnictogen molecular entity		
http://purl.obolibrary.org/obo/CHEBI_25806	oxygen molecular entity	http://purl.obolibrary.org/obo/CHEBI_33304	chalcogen molecular entity		
http://purl.obolibrary.org/obo/CHEBI_24471	halogen molecular entity	http://purl.obolibrary.org/obo/CHEBI_33675	p-block molecular entity		
http://purl.obolibrary.org/obo/CHEBI_33302	pnictogen molecular entity	http://purl.obolibrary.org/obo/CHEBI_33675	p-block molecular entity		
http://purl.obolibrary.org/obo/CHEBI_33304	chalcogen molecular entity	http://purl.obolibrary.org/obo/CHEBI_33675	p-block molecular entity		
http://purl.obolibrary.org/obo/CHEBI_33582	carbon group molecular entity	http://purl.obolibrary.org/obo/CHEBI_33675	p-block molecular entity		
http://purl.obolibrary.org/obo/CHEBI_33598	carbocyclic compound	http://purl.obolibrary.org/obo/CHEBI_33597	homocyclic compound		
http://purl.obolibrary.org/obo/CHEBI_33659	organic aromatic compound	http://purl.obolibrary.org/obo/CHEBI_33655	aromatic compound		
http://purl.obolibrary.org/obo/CHEBI_36834	3-hydroxy steroid	http://purl.obolibrary.org/obo/CHEBI_35350	hydroxy steroid		
http://purl.obolibrary.org/obo/CHEBI_35509	androstane	http://purl.obolibrary.org/obo/CHEBI_35508	steroid fundamental parent		
http://purl.obolibrary.org/obo/CHEBI_25367	molecule	http://purl.obolibrary.org/obo/CHEBI_36357	polyatomic entity		
http://purl.obolibrary.org/obo/CHEBI_37577	heteroatomic molecular entity	http://purl.obolibrary.org/obo/CHEBI_36357	polyatomic entity		
http://purl.obolibrary.org/obo/CHEBI_33702	polyatomic cation	http://purl.obolibrary.org/obo/CHEBI_36916	cation		
http://purl.obolibrary.org/obo/CHEBI_36915	inorganic cation	http://purl.obolibrary.org/obo/CHEBI_36916	cation		
http://purl.obolibrary.org/obo/CHEBI_33261	organosulfur compound	http://purl.obolibrary.org/obo/CHEBI_26835	sulfur molecular entity		
http://purl.obolibrary.org/obo/CHEBI_24866	salt	http://purl.obolibrary.org/obo/CHEBI_37577	heteroatomic molecular entity		
http://purl.obolibrary.org/obo/CHEBI_27207	univalent carboacyl group	http://purl.obolibrary.org/obo/CHEBI_37838	carboacyl group		
http://purl.obolibrary.org/obo/CHEBI_23066	cephalosporin	http://purl.obolibrary.org/obo/CHEBI_38311	cephem		
http://purl.obolibrary.org/obo/CHEBI_33232	application	http://purl.obolibrary.org/obo/CHEBI_50906	role		
http://purl.obolibrary.org/obo/CHEBI_35715	nitro compound	http://purl.obolibrary.org/obo/CHEBI_51143	nitrogen molecular entity		
http://purl.obolibrary.org/obo/CHEBI_35362	hydrazide	http://purl.obolibrary.org/obo/CHEBI_51143	nitrogen molecular entity		
http://purl.obolibrary.org/obo/CHEBI_32988	amide	http://purl.obolibrary.org/obo/CHEBI_51143	nitrogen molecular entity		
http://purl.obolibrary.org/obo/CHEBI_37533	azo compound	http://purl.obolibrary.org/obo/CHEBI_51143	nitrogen molecular entity		
http://purl.obolibrary.org/obo/CHEBI_35106	nitrogen hydride	http://purl.obolibrary.org/obo/CHEBI_35881	pnictogen hydride		
http://purl.obolibrary.org/obo/CHEBI_23666	diamine	http://purl.obolibrary.org/obo/CHEBI_88061	polyamine		
http://purl.obolibrary.org/obo/CHEBI_421707	abacavir	http://purl.obolibrary.org/obo/CHEBI_38001	2,6-diaminopurines		
http://purl.obolibrary.org/obo/CHEBI_38261	imidazolidines	http://purl.obolibrary.org/obo/CHEBI_38304	diazolidine		
http://purl.obolibrary.org/obo/HP_0002024	Malabsorption	http://purl.obolibrary.org/obo/HP_0025032	Abnormality of digestive system physiology		
http://purl.obolibrary.org/obo/HP_0012700	Abnormal large intestine physiology	http://purl.obolibrary.org/obo/HP_0025032	Abnormality of digestive system physiology		
http://purl.obolibrary.org/obo/HP_0012719	Functional abnormality of the gastrointestinal tract	http://purl.obolibrary.org/obo/HP_0011024	Abnormality of the gastrointestinal tract		
http://purl.obolibrary.org/obo/NCBITaxon_1717	Corynebacterium diphtheriae	http://purl.obolibrary.org/obo/NCBITaxon_1716	Corynebacterium		
http://purl.obolibrary.org/obo/NCBITaxon_34503	Paragonimus	http://purl.obolibrary.org/obo/NCBITaxon_34502	Troglotrematidae		
http://purl.obolibrary.org/obo/NCBITaxon_61463	Gnathostoma	http://purl.obolibrary.org/obo/NCBITaxon_119158	Gnathostomatidae		
http://purl.obolibrary.org/obo/NCBITaxon_6215	Hymenolepis <flatworms>	http://purl.obolibrary.org/obo/NCBITaxon_6214	Hymenolepididae		
http://purl.obolibrary.org/obo/NCBITaxon_6281	Onchocerca	http://purl.obolibrary.org/obo/NCBITaxon_6296	Onchocercidae		
http://purl.obolibrary.org/obo/NCBITaxon_662	Vibrio	http://purl.obolibrary.org/obo/NCBITaxon_641	Vibrionaceae		
http://purl.obolibrary.org/obo/NCBITaxon_27841	Echinostomata	http://purl.obolibrary.org/obo/NCBITaxon_27871	Plagiorchiida		
http://purl.obolibrary.org/obo/NCBITaxon_27843	Fasciolidae	http://purl.obolibrary.org/obo/NCBITaxon_404429	Echinostomatoidea		
http://purl.obolibrary.org/obo/NCBITaxon_12455	Borna disease virus	http://purl.obolibrary.org/obo/NCBITaxon_555864	unclassified Bornaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_404429	Echinostomatoidea	http://purl.obolibrary.org/obo/NCBITaxon_27841	Echinostomata		
http://purl.obolibrary.org/obo/NCBITaxon_27871	Plagiorchiida	http://purl.obolibrary.org/obo/NCBITaxon_6179	Digenea <flatworms>		
http://purl.obolibrary.org/obo/NCBITaxon_6193	Opisthorchiida	http://purl.obolibrary.org/obo/NCBITaxon_6179	Digenea <flatworms>		
http://purl.obolibrary.org/obo/NCBITaxon_6194	Opisthorchiata	http://purl.obolibrary.org/obo/NCBITaxon_6193	Opisthorchiida		
http://purl.obolibrary.org/obo/NCBITaxon_47570	Schizotrypanum	http://purl.obolibrary.org/obo/NCBITaxon_5690	Trypanosoma		
http://purl.obolibrary.org/obo/NCBITaxon_2301119	Rhabditomorpha	http://purl.obolibrary.org/obo/NCBITaxon_2301116	Rhabditina		
http://purl.obolibrary.org/obo/NCBITaxon_207245	Fornicata	http://purl.obolibrary.org/obo/NCBITaxon_2611341	Metamonada		
http://purl.obolibrary.org/obo/DOID_7571	malignant cystic nephroma	http://purl.obolibrary.org/obo/DOID_263	kidney cancer		
http://purl.obolibrary.org/obo/DOID_3351	bone angioendothelial sarcoma	http://purl.obolibrary.org/obo/DOID_0080639	bone sarcoma		
http://purl.obolibrary.org/obo/DOID_3360	multifocal osteogenic sarcoma	http://purl.obolibrary.org/obo/DOID_0080639	bone sarcoma		
http://purl.obolibrary.org/obo/HP_0001251	Ataxia	http://purl.obolibrary.org/obo/HP_0011443	Abnormality of coordination		
http://purl.obolibrary.org/obo/HP_0005372	Abnormal B cell physiology	http://purl.obolibrary.org/obo/HP_0031409	Abnormal lymphocyte physiology		
http://purl.obolibrary.org/obo/NCBITaxon_12475	Hepatitis delta virus	http://purl.obolibrary.org/obo/NCBITaxon_2844074	Deltavirus italiense		
http://purl.obolibrary.org/obo/HP_0000041	Chordee	http://purl.obolibrary.org/obo/HP_6000085	Angulation of penis		
http://purl.obolibrary.org/obo/NCBITaxon_3243772	Dipodascales	http://purl.obolibrary.org/obo/NCBITaxon_3239873	Dipodascomycetes		
http://purl.obolibrary.org/obo/CL_0000150	glandular secretory epithelial cell	http://purl.obolibrary.org/obo/CL_0000151	secretory cell		
http://purl.obolibrary.org/obo/CL_0000165	neuroendocrine cell	http://purl.obolibrary.org/obo/CL_0000710	neurecto-epithelial cell		
http://purl.obolibrary.org/obo/CL_0000216	Sertoli cell	http://purl.obolibrary.org/obo/CL_0002625	seminiferous tubule epithelial cell		
http://purl.obolibrary.org/obo/CL_0000242	Merkel cell	http://purl.obolibrary.org/obo/CL_0000710	neurecto-epithelial cell		
http://purl.obolibrary.org/obo/DOID_6992	intraocular mixed cell type melanoma	http://purl.obolibrary.org/obo/DOID_1752	ocular melanoma		
http://purl.obolibrary.org/obo/DOID_4916	pituitary carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		
http://purl.obolibrary.org/obo/DOID_5716	hormone producing pituitary cancer	http://purl.obolibrary.org/obo/DOID_1785	pituitary cancer		
http://purl.obolibrary.org/obo/DOID_4486	malignant biphasic mesothelioma	http://purl.obolibrary.org/obo/DOID_1790	malignant mesothelioma		
http://purl.obolibrary.org/obo/DOID_4488	sarcomatoid mesothelioma	http://purl.obolibrary.org/obo/DOID_1790	malignant mesothelioma		
http://purl.obolibrary.org/obo/DOID_4489	malignant epithelial mesothelioma	http://purl.obolibrary.org/obo/DOID_1790	malignant mesothelioma		
http://purl.obolibrary.org/obo/DOID_6201	pericardial mesothelioma	http://purl.obolibrary.org/obo/DOID_116	pericardium cancer		
http://purl.obolibrary.org/obo/DOID_4901	peritoneal serous adenocarcinoma	http://purl.obolibrary.org/obo/DOID_1791	peritoneal carcinoma		
http://purl.obolibrary.org/obo/DOID_1792	pancreas lymphoma	http://purl.obolibrary.org/obo/DOID_0060058	lymphoma		
http://purl.obolibrary.org/obo/DOID_3919	pancreatic serous cystic neoplasm	http://purl.obolibrary.org/obo/DOID_1795	malignant exocrine pancreas neoplasm		
http://purl.obolibrary.org/obo/DOID_4432	pancreatic somatostatinoma	http://purl.obolibrary.org/obo/DOID_1799	islet cell tumor		
http://purl.obolibrary.org/obo/DOID_4433	pancreatic delta cell neoplasm	http://purl.obolibrary.org/obo/DOID_1799	islet cell tumor		
http://purl.obolibrary.org/obo/DOID_5580	pancreatic gastrinoma	http://purl.obolibrary.org/obo/DOID_1799	islet cell tumor		
http://purl.obolibrary.org/obo/DOID_5741	pancreatic vasoactive intestinal peptide producing tumor	http://purl.obolibrary.org/obo/DOID_1799	islet cell tumor		
http://purl.obolibrary.org/obo/DOID_7697	pancreatic ACTH hormone producing tumor	http://purl.obolibrary.org/obo/DOID_1799	islet cell tumor		
http://purl.obolibrary.org/obo/DOID_7698	non-functioning pancreatic endocrine tumor	http://purl.obolibrary.org/obo/DOID_1799	islet cell tumor		
http://purl.obolibrary.org/obo/DOID_3842	skull base cancer	http://purl.obolibrary.org/obo/DOID_1863	skull cancer		
http://purl.obolibrary.org/obo/DOID_1893	eczematous dermatitis of eyelid	http://purl.obolibrary.org/obo/DOID_1894	noninfectious dermatoses of eyelid		
http://purl.obolibrary.org/obo/DOID_9076	discoid lupus erythematosus of eyelid	http://purl.obolibrary.org/obo/DOID_1894	noninfectious dermatoses of eyelid		
http://purl.obolibrary.org/obo/DOID_9140	xeroderma of eyelid	http://purl.obolibrary.org/obo/DOID_1894	noninfectious dermatoses of eyelid		
http://purl.obolibrary.org/obo/DOID_2780	rectosigmoid junction neoplasm	http://purl.obolibrary.org/obo/DOID_1896	sigmoid neoplasm		
http://purl.obolibrary.org/obo/DOID_6192	malignant inflammatory fibrous histiocytoma	http://purl.obolibrary.org/obo/DOID_1907	malignant fibrous histiocytoma		
http://purl.obolibrary.org/obo/DOID_3644	hypothalamic neoplasm	http://purl.obolibrary.org/obo/DOID_1659	supratentorial cancer		
http://purl.obolibrary.org/obo/DOID_3367	bone leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_1967	leiomyosarcoma		
http://purl.obolibrary.org/obo/DOID_1988	rectum lymphoma	http://purl.obolibrary.org/obo/DOID_0060058	lymphoma		
http://purl.obolibrary.org/obo/DOID_1992	rectum malignant melanoma	http://purl.obolibrary.org/obo/DOID_1909	melanoma		
http://purl.obolibrary.org/obo/DOID_5777	rectum neuroendocrine neoplasm	http://purl.obolibrary.org/obo/DOID_169	neuroendocrine tumor		
http://purl.obolibrary.org/obo/DOID_7356	rectum sarcomatoid carcinoma	http://purl.obolibrary.org/obo/DOID_1993	rectum cancer		
http://purl.obolibrary.org/obo/DOID_7707	rectum signet ring adenocarcinoma	http://purl.obolibrary.org/obo/DOID_1996	rectum adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_314	tenosynovial giant cell tumor	http://purl.obolibrary.org/obo/DOID_200	benign giant cell tumor		
http://purl.obolibrary.org/obo/DOID_5155	multiple mucosal neuroma	http://purl.obolibrary.org/obo/DOID_2001	neuroma		
http://purl.obolibrary.org/obo/DOID_6569	micropapillomatosis labialis	http://purl.obolibrary.org/obo/DOID_2071	vulvar squamous papilloma		
http://purl.obolibrary.org/obo/DOID_2071	vulvar squamous papilloma	http://purl.obolibrary.org/obo/DOID_2072	vulvar squamous tumor		
http://purl.obolibrary.org/obo/DOID_2073	perinatal intestinal perforation	http://purl.obolibrary.org/obo/DOID_2074	intestinal perforation		
http://purl.obolibrary.org/obo/DOID_2078	chondroid syringoma of the vulva	http://purl.obolibrary.org/obo/DOID_0060109	vulvar benign neoplasm		
http://purl.obolibrary.org/obo/DOID_4921	eccrine sweat gland cancer	http://purl.obolibrary.org/obo/DOID_2095	sweat gland cancer		
http://purl.obolibrary.org/obo/DOID_4934	apocrine sweat gland cancer	http://purl.obolibrary.org/obo/DOID_2095	sweat gland cancer		
http://purl.obolibrary.org/obo/DOID_5570	malignant acrospiroma	http://purl.obolibrary.org/obo/DOID_2095	sweat gland cancer		
http://purl.obolibrary.org/obo/DOID_5667	sweat gland carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		
http://purl.obolibrary.org/obo/DOID_6789	vulvar childhood botryoid-type embryonal rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_2096	vulvar sarcoma		
http://purl.obolibrary.org/obo/DOID_7491	vulvar proximal-type epithelioid sarcoma	http://purl.obolibrary.org/obo/DOID_7492	central epithelioid sarcoma		
http://purl.obolibrary.org/obo/DOID_6934	urethra inverted papilloma	http://purl.obolibrary.org/obo/DOID_2615	papilloma		
http://purl.obolibrary.org/obo/DOID_5176	renal Wilms' tumor	http://purl.obolibrary.org/obo/DOID_2154	nephroblastoma		
http://purl.obolibrary.org/obo/DOID_5178	metachronous kidney Wilms' tumor	http://purl.obolibrary.org/obo/DOID_2154	nephroblastoma		
http://purl.obolibrary.org/obo/DOID_5179	mixed cell type kidney Wilms' tumor	http://purl.obolibrary.org/obo/DOID_2154	nephroblastoma		
http://purl.obolibrary.org/obo/DOID_5182	blastema predominant kidney Wilms' tumor	http://purl.obolibrary.org/obo/DOID_2154	nephroblastoma		
http://purl.obolibrary.org/obo/DOID_5189	epithelial predominant Wilms' tumor	http://purl.obolibrary.org/obo/DOID_2154	nephroblastoma		
http://purl.obolibrary.org/obo/DOID_5191	stromal predominant kidney Wilms' tumor	http://purl.obolibrary.org/obo/DOID_2154	nephroblastoma		
http://purl.obolibrary.org/obo/DOID_2155	malignant ovarian germ cell neoplasm	http://purl.obolibrary.org/obo/DOID_2156	ovarian germ cell cancer		
http://purl.obolibrary.org/obo/DOID_5567	ovarian germ cell teratoma	http://purl.obolibrary.org/obo/DOID_2156	ovarian germ cell cancer		
http://purl.obolibrary.org/obo/DOID_4645	retinal cancer	http://purl.obolibrary.org/obo/DOID_5679	retinal disease		
http://purl.obolibrary.org/obo/DOID_260	hepatic flexure cancer	http://purl.obolibrary.org/obo/DOID_218	ascending colon cancer		
http://purl.obolibrary.org/obo/DOID_4031	eosinophilic gastroenteritis	http://purl.obolibrary.org/obo/DOID_2326	gastroenteritis		
http://purl.obolibrary.org/obo/DOID_3029	colon mucinous adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3030	mucinous adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_3033	colon signet ring adenocarcinoma	http://purl.obolibrary.org/obo/DOID_234	colon adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_3038	submucosal invasive colon adenocarcinoma	http://purl.obolibrary.org/obo/DOID_234	colon adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_2430	skin glomus tumor	http://purl.obolibrary.org/obo/DOID_4159	skin cancer		
http://purl.obolibrary.org/obo/DOID_5233	glomangiosarcoma	http://purl.obolibrary.org/obo/DOID_2431	glomus tumor		
http://purl.obolibrary.org/obo/DOID_5236	subungual glomus tumor	http://purl.obolibrary.org/obo/DOID_2431	glomus tumor		
http://purl.obolibrary.org/obo/DOID_6048	telangiectatic glomangioma	http://purl.obolibrary.org/obo/DOID_2435	skin glomangioma		
http://purl.obolibrary.org/obo/DOID_2435	skin glomangioma	http://purl.obolibrary.org/obo/DOID_3165	skin benign neoplasm		
http://purl.obolibrary.org/obo/DOID_7996	familial glomangioma	http://purl.obolibrary.org/obo/DOID_2436	glomangioma		
http://purl.obolibrary.org/obo/DOID_5132	leiomyoma cutis	http://purl.obolibrary.org/obo/DOID_2438	dermis tumor		
http://purl.obolibrary.org/obo/DOID_3946	pituitary-dependent Cushing's disease	http://purl.obolibrary.org/obo/DOID_2444	hyperpituitarism		
http://purl.obolibrary.org/obo/DOID_2457	giant papillary conjunctivitis	http://purl.obolibrary.org/obo/DOID_2458	papillary conjunctivitis		
http://purl.obolibrary.org/obo/DOID_4278	scrotum basal cell carcinoma	http://purl.obolibrary.org/obo/DOID_3445	scrotal carcinoma		
http://purl.obolibrary.org/obo/DOID_4287	external ear basal cell carcinoma	http://purl.obolibrary.org/obo/DOID_4288	external ear carcinoma		
http://purl.obolibrary.org/obo/DOID_4290	adamantinoid basal cell epithelioma	http://purl.obolibrary.org/obo/DOID_2513	basal cell carcinoma		
http://purl.obolibrary.org/obo/DOID_4291	fibroepithelial basal cell carcinoma	http://purl.obolibrary.org/obo/DOID_2513	basal cell carcinoma		
http://purl.obolibrary.org/obo/DOID_4292	morpheaform basal cell carcinoma	http://purl.obolibrary.org/obo/DOID_2513	basal cell carcinoma		
http://purl.obolibrary.org/obo/DOID_4293	clear cell basal cell carcinoma	http://purl.obolibrary.org/obo/DOID_2513	basal cell carcinoma		
http://purl.obolibrary.org/obo/DOID_4300	superficial basal cell carcinoma	http://purl.obolibrary.org/obo/DOID_2513	basal cell carcinoma		
http://purl.obolibrary.org/obo/DOID_4303	sarcomatoid basal cell carcinoma	http://purl.obolibrary.org/obo/DOID_2513	basal cell carcinoma		
http://purl.obolibrary.org/obo/DOID_4304	signet ring basal cell carcinoma	http://purl.obolibrary.org/obo/DOID_2513	basal cell carcinoma		
http://purl.obolibrary.org/obo/DOID_5063	basosquamous carcinoma	http://purl.obolibrary.org/obo/DOID_2513	basal cell carcinoma		
http://purl.obolibrary.org/obo/DOID_2516	intracranial cavernous angioma	http://purl.obolibrary.org/obo/DOID_2517	intracranial structure hemangioma		
http://purl.obolibrary.org/obo/DOID_3024	prostatic acinar adenocarcinoma	http://purl.obolibrary.org/obo/DOID_2526	prostate adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_3504	prostate signet ring cell adenocarcinoma	http://purl.obolibrary.org/obo/DOID_2526	prostate adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_7246	lymphoepithelioma-like acinar prostate adenocarcinoma	http://purl.obolibrary.org/obo/DOID_2526	prostate adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_2550	tactile epilepsy	http://purl.obolibrary.org/obo/DOID_2548	reflex epilepsy		
http://purl.obolibrary.org/obo/DOID_2599	glottis carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		
http://purl.obolibrary.org/obo/DOID_4869	laryngeal adenoid cystic carcinoma	http://purl.obolibrary.org/obo/DOID_2600	laryngeal carcinoma		
http://purl.obolibrary.org/obo/DOID_3201	sympathetic neurilemmoma	http://purl.obolibrary.org/obo/DOID_2621	autonomic nervous system neoplasm		
http://purl.obolibrary.org/obo/DOID_3675	childhood kidney cancer	http://purl.obolibrary.org/obo/DOID_263	kidney cancer		
http://purl.obolibrary.org/obo/DOID_4919	renal pelvis carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		
http://purl.obolibrary.org/obo/DOID_4957	meninges hemangiopericytoma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_5373	retroperitoneal hemangiopericytoma	http://purl.obolibrary.org/obo/DOID_264	hemangiopericytoma		
http://purl.obolibrary.org/obo/DOID_6197	conventional malignant hemangiopericytoma	http://purl.obolibrary.org/obo/DOID_264	hemangiopericytoma		
http://purl.obolibrary.org/obo/DOID_6332	adult malignant hemangiopericytoma	http://purl.obolibrary.org/obo/DOID_264	hemangiopericytoma		
http://purl.obolibrary.org/obo/DOID_7731	childhood malignant hemangiopericytoma	http://purl.obolibrary.org/obo/DOID_264	hemangiopericytoma		
http://purl.obolibrary.org/obo/DOID_2653	benign fibrous mesothelioma	http://purl.obolibrary.org/obo/DOID_2645	benign mesothelioma		
http://purl.obolibrary.org/obo/DOID_5157	benign pleural mesothelioma	http://purl.obolibrary.org/obo/DOID_1532	pleural disease		
http://purl.obolibrary.org/obo/DOID_5884	benign intermediate mesothelioma	http://purl.obolibrary.org/obo/DOID_2645	benign mesothelioma		
http://purl.obolibrary.org/obo/DOID_5758	malignant mesenchymoma	http://purl.obolibrary.org/obo/DOID_2668	mesenchymoma		
http://purl.obolibrary.org/obo/DOID_4630	inverted transitional papilloma	http://purl.obolibrary.org/obo/DOID_2670	transitional papilloma		
http://purl.obolibrary.org/obo/DOID_6844	kidney pelvis sarcomatoid transitional cell carcinoma	http://purl.obolibrary.org/obo/DOID_4919	renal pelvis carcinoma		
http://purl.obolibrary.org/obo/DOID_6888	ureter transitional cell carcinoma	http://purl.obolibrary.org/obo/DOID_4939	ureter carcinoma		
http://purl.obolibrary.org/obo/DOID_5273	cutaneous leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_2687	skin sarcoma		
http://purl.obolibrary.org/obo/DOID_5712	cutaneous liposarcoma	http://purl.obolibrary.org/obo/DOID_2687	skin sarcoma		
http://purl.obolibrary.org/obo/DOID_6257	chromophil adenoma of the kidney	http://purl.obolibrary.org/obo/DOID_2697	renal adenoma		
http://purl.obolibrary.org/obo/DOID_6404	metanephric adenoma	http://purl.obolibrary.org/obo/DOID_2697	renal adenoma		
http://purl.obolibrary.org/obo/DOID_5638	malignant giant cell tumor of soft parts	http://purl.obolibrary.org/obo/DOID_2705	malignant giant cell tumor		
http://purl.obolibrary.org/obo/DOID_2704	malignant giant cell tumor of the tendon sheath	http://purl.obolibrary.org/obo/DOID_2706	synovium cancer		
http://purl.obolibrary.org/obo/DOID_5334	paraphimosis	http://purl.obolibrary.org/obo/DOID_2712	phimosis		
http://purl.obolibrary.org/obo/DOID_5806	stork bite	http://purl.obolibrary.org/obo/DOID_2725	capillary hemangioma		
http://purl.obolibrary.org/obo/DOID_4404	occupational dermatitis	http://purl.obolibrary.org/obo/DOID_2773	contact dermatitis		
http://purl.obolibrary.org/obo/DOID_2781	rectosigmoid cancer	http://purl.obolibrary.org/obo/DOID_2782	rectosigmoid junction cancer		
http://purl.obolibrary.org/obo/DOID_2814	malignant neoplasm of acoustic nerve	http://purl.obolibrary.org/obo/DOID_12657	vestibulocochlear nerve disease		
http://purl.obolibrary.org/obo/DOID_2817	cranial nerve III tumor	http://purl.obolibrary.org/obo/DOID_562	third cranial nerve disease		
http://purl.obolibrary.org/obo/DOID_3198	hypoglossal nerve neoplasm	http://purl.obolibrary.org/obo/DOID_2815	cranial nerve malignant neoplasm		
http://purl.obolibrary.org/obo/DOID_337	spinal accessory nerve neoplasm	http://purl.obolibrary.org/obo/DOID_2815	cranial nerve malignant neoplasm		
http://purl.obolibrary.org/obo/DOID_3417	glossopharyngeal nerve neoplasm	http://purl.obolibrary.org/obo/DOID_2815	cranial nerve malignant neoplasm		
http://purl.obolibrary.org/obo/DOID_3419	optic nerve neoplasm	http://purl.obolibrary.org/obo/DOID_1891	optic nerve disease		
http://purl.obolibrary.org/obo/DOID_3421	trochlear nerve neoplasm	http://purl.obolibrary.org/obo/DOID_2815	cranial nerve malignant neoplasm		
http://purl.obolibrary.org/obo/DOID_370	malignant olfactory nerve neoplasm	http://purl.obolibrary.org/obo/DOID_2815	cranial nerve malignant neoplasm		
http://purl.obolibrary.org/obo/DOID_2816	malignant oculomotor nerve tumor	http://purl.obolibrary.org/obo/DOID_2817	cranial nerve III tumor		
http://purl.obolibrary.org/obo/DOID_2833	dehydration polycythemia	http://purl.obolibrary.org/obo/DOID_2834	acquired polycythemia		
http://purl.obolibrary.org/obo/DOID_2835	polycythemia due to hypoxia	http://purl.obolibrary.org/obo/DOID_2834	acquired polycythemia		
http://purl.obolibrary.org/obo/DOID_2838	stress polycythemia	http://purl.obolibrary.org/obo/DOID_2834	acquired polycythemia		
http://purl.obolibrary.org/obo/DOID_2839	erythropoietin polycythemia	http://purl.obolibrary.org/obo/DOID_2834	acquired polycythemia		
http://purl.obolibrary.org/obo/DOID_3752	larynx verrucous carcinoma	http://purl.obolibrary.org/obo/DOID_2876	laryngeal squamous cell carcinoma		
http://purl.obolibrary.org/obo/DOID_6204	follicular adenoma	http://purl.obolibrary.org/obo/DOID_2891	thyroid adenoma		
http://purl.obolibrary.org/obo/DOID_6740	cervix small cell carcinoma	http://purl.obolibrary.org/obo/DOID_2893	cervix carcinoma		
http://purl.obolibrary.org/obo/DOID_293	lacrimal gland carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		
http://purl.obolibrary.org/obo/DOID_296	mixed lacrimal gland cancer	http://purl.obolibrary.org/obo/DOID_294	lacrimal gland cancer		
http://purl.obolibrary.org/obo/DOID_4796	space motion sickness	http://purl.obolibrary.org/obo/DOID_2951	motion sickness		
http://purl.obolibrary.org/obo/DOID_9621	non-congenital cyst of kidney	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		
http://purl.obolibrary.org/obo/DOID_4870	lacrimal gland adenoid cystic carcinoma	http://purl.obolibrary.org/obo/DOID_298	lacrimal gland adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_5834	spermatocytoma	http://purl.obolibrary.org/obo/DOID_2998	testicular cancer		
http://purl.obolibrary.org/obo/DOID_5842	testis seminoma	http://purl.obolibrary.org/obo/DOID_2998	testicular cancer		
http://purl.obolibrary.org/obo/DOID_6249	mediastinum seminoma	http://purl.obolibrary.org/obo/DOID_5559	mediastinal cancer		
http://purl.obolibrary.org/obo/DOID_5331	testicular granulosa cell tumor	http://purl.obolibrary.org/obo/DOID_2999	granulosa cell tumor		
http://purl.obolibrary.org/obo/DOID_7533	subareolar duct papillomatosis	http://purl.obolibrary.org/obo/DOID_3003	nipple benign neoplasm		
http://purl.obolibrary.org/obo/DOID_3693	ampulla of Vater mucinous adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3502	ampulla of Vater adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_3698	bile duct mucinous adenocarcinoma	http://purl.obolibrary.org/obo/DOID_4896	bile duct adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_3716	mucinous stomach adenocarcinoma	http://purl.obolibrary.org/obo/DOID_6217	gastric diffuse adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_3079	childhood astrocytic tumor	http://purl.obolibrary.org/obo/DOID_3069	malignant astrocytoma		
http://purl.obolibrary.org/obo/DOID_4856	gliofibroma	http://purl.obolibrary.org/obo/DOID_3069	malignant astrocytoma		
http://purl.obolibrary.org/obo/DOID_7005	gemistocytic astrocytoma	http://purl.obolibrary.org/obo/DOID_3069	malignant astrocytoma		
http://purl.obolibrary.org/obo/DOID_7008	protoplasmic astrocytoma	http://purl.obolibrary.org/obo/DOID_3069	malignant astrocytoma		
http://purl.obolibrary.org/obo/DOID_7656	adult infiltrating astrocytic neoplasm	http://purl.obolibrary.org/obo/DOID_3076	adult astrocytic tumor		
http://purl.obolibrary.org/obo/DOID_7729	acinar cell cystadenocarcinoma	http://purl.obolibrary.org/obo/DOID_3111	cystadenocarcinoma		
http://purl.obolibrary.org/obo/DOID_5585	Ferguson-Smith tumor	http://purl.obolibrary.org/obo/DOID_3149	keratoacanthoma		
http://purl.obolibrary.org/obo/DOID_7380	squamous cell papilloma of skin	http://purl.obolibrary.org/obo/DOID_3178	skin papilloma		
http://purl.obolibrary.org/obo/DOID_3184	spinal cord oligodendroglioma	http://purl.obolibrary.org/obo/DOID_3181	oligodendroglioma		
http://purl.obolibrary.org/obo/DOID_4863	spinal cord astrocytoma	http://purl.obolibrary.org/obo/DOID_3185	spinal cord glioma		
http://purl.obolibrary.org/obo/DOID_7806	adult spinal cord glioblastoma multiforme	http://purl.obolibrary.org/obo/DOID_3185	spinal cord glioma		
http://purl.obolibrary.org/obo/DOID_4697	perineurioma	http://purl.obolibrary.org/obo/DOID_3193	peripheral nerve sheath neoplasm		
http://purl.obolibrary.org/obo/DOID_3199	C-P angle neurinoma	http://purl.obolibrary.org/obo/DOID_3200	cerebellopontine angle tumor		
http://purl.obolibrary.org/obo/DOID_4787	cerebellopontine angle primitive neuroectodermal tumor	http://purl.obolibrary.org/obo/DOID_3200	cerebellopontine angle tumor		
http://purl.obolibrary.org/obo/DOID_6337	cerebellopontine angle meningioma	http://purl.obolibrary.org/obo/DOID_0060106	brain meningioma		
http://purl.obolibrary.org/obo/DOID_6484	mediastinal melanocytic neurilemmoma	http://purl.obolibrary.org/obo/DOID_3205	melanotic neurilemmoma		
http://purl.obolibrary.org/obo/DOID_3250	pleomorphic rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_3247	rhabdomyosarcoma		
http://purl.obolibrary.org/obo/DOID_4048	central nervous system rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_3620	central nervous system cancer		
http://purl.obolibrary.org/obo/DOID_4051	alveolar rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_3247	rhabdomyosarcoma		
http://purl.obolibrary.org/obo/DOID_4065	mixed type rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_3247	rhabdomyosarcoma		
http://purl.obolibrary.org/obo/DOID_7463	childhood pleomorphic rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_3250	pleomorphic rhabdomyosarcoma		
http://purl.obolibrary.org/obo/DOID_8251	adult pleomorphic rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_3250	pleomorphic rhabdomyosarcoma		
http://purl.obolibrary.org/obo/DOID_3253	embryonal extrahepatic bile duct rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_3254	bile duct rhabdomyosarcoma		
http://purl.obolibrary.org/obo/DOID_3278	encapsulated thymoma	http://purl.obolibrary.org/obo/DOID_3275	thymoma		
http://purl.obolibrary.org/obo/DOID_3279	spindle cell thymoma	http://purl.obolibrary.org/obo/DOID_3275	thymoma		
http://purl.obolibrary.org/obo/DOID_3280	mixed type thymoma	http://purl.obolibrary.org/obo/DOID_3275	thymoma		
http://purl.obolibrary.org/obo/DOID_3281	combined thymoma	http://purl.obolibrary.org/obo/DOID_3275	thymoma		
http://purl.obolibrary.org/obo/DOID_3283	invasive malignant thymoma	http://purl.obolibrary.org/obo/DOID_3275	thymoma		
http://purl.obolibrary.org/obo/DOID_4554	type C thymoma	http://purl.obolibrary.org/obo/DOID_3275	thymoma		
http://purl.obolibrary.org/obo/DOID_7214	noninvasive malignant thymoma	http://purl.obolibrary.org/obo/DOID_3275	thymoma		
http://purl.obolibrary.org/obo/DOID_7927	malignant type A thymoma	http://purl.obolibrary.org/obo/DOID_3279	spindle cell thymoma		
http://purl.obolibrary.org/obo/DOID_6723	malignant type AB thymoma	http://purl.obolibrary.org/obo/DOID_3280	mixed type thymoma		
http://purl.obolibrary.org/obo/DOID_6917	predominantly cortical thymoma	http://purl.obolibrary.org/obo/DOID_3282	thymoma type B		
http://purl.obolibrary.org/obo/DOID_7926	epithelial malignant thymoma	http://purl.obolibrary.org/obo/DOID_3282	thymoma type B		
http://purl.obolibrary.org/obo/DOID_4553	thymus large cell carcinoma	http://purl.obolibrary.org/obo/DOID_3284	thymic carcinoma		
http://purl.obolibrary.org/obo/DOID_7142	thymus small cell carcinoma	http://purl.obolibrary.org/obo/DOID_3284	thymic carcinoma		
http://purl.obolibrary.org/obo/DOID_7599	lymphoepithelioma-like thymic carcinoma	http://purl.obolibrary.org/obo/DOID_3284	thymic carcinoma		
http://purl.obolibrary.org/obo/DOID_8137	thymus clear cell carcinoma	http://purl.obolibrary.org/obo/DOID_3284	thymic carcinoma		
http://purl.obolibrary.org/obo/DOID_8138	thymus sarcomatoid carcinoma	http://purl.obolibrary.org/obo/DOID_3284	thymic carcinoma		
http://purl.obolibrary.org/obo/DOID_3579	testicular gonadoblastoma	http://purl.obolibrary.org/obo/DOID_2519	testicular disease		
http://purl.obolibrary.org/obo/DOID_7232	central nervous system embryonal carcinoma	http://purl.obolibrary.org/obo/DOID_4439	central nervous system germ cell tumor		
http://purl.obolibrary.org/obo/DOID_3318	epithelioid type angiomyolipoma	http://purl.obolibrary.org/obo/DOID_3314	angiomyolipoma		
http://purl.obolibrary.org/obo/DOID_2643	perivascular epithelioid cell tumor	http://purl.obolibrary.org/obo/DOID_3316	perivascular tumor		
http://purl.obolibrary.org/obo/DOID_3850	hemangiopericytic tumor	http://purl.obolibrary.org/obo/DOID_3316	perivascular tumor		
http://purl.obolibrary.org/obo/DOID_5769	verruciform xanthoma of skin	http://purl.obolibrary.org/obo/DOID_37	skin disease		
http://purl.obolibrary.org/obo/DOID_3361	childhood osteosarcoma	http://purl.obolibrary.org/obo/DOID_3347	osteosarcoma		
http://purl.obolibrary.org/obo/DOID_3372	chondroblastic osteosarcoma	http://purl.obolibrary.org/obo/DOID_3347	osteosarcoma		
http://purl.obolibrary.org/obo/DOID_3379	metachronous osteosarcoma of the bone	http://purl.obolibrary.org/obo/DOID_3347	osteosarcoma		
http://purl.obolibrary.org/obo/DOID_3516	adult fibrosarcoma	http://purl.obolibrary.org/obo/DOID_3355	fibrosarcoma		
http://purl.obolibrary.org/obo/DOID_3517	conventional fibrosarcoma	http://purl.obolibrary.org/obo/DOID_3355	fibrosarcoma		
http://purl.obolibrary.org/obo/DOID_3520	childhood fibrosarcoma	http://purl.obolibrary.org/obo/DOID_3355	fibrosarcoma		
http://purl.obolibrary.org/obo/DOID_6451	central nervous system fibrosarcoma	http://purl.obolibrary.org/obo/DOID_2133	central nervous system sarcoma		
http://purl.obolibrary.org/obo/DOID_6696	synchronous multifocal osteogenic sarcoma	http://purl.obolibrary.org/obo/DOID_3360	multifocal osteogenic sarcoma		
http://purl.obolibrary.org/obo/DOID_6697	asynchronous multifocal osteogenic sarcoma	http://purl.obolibrary.org/obo/DOID_3360	multifocal osteogenic sarcoma		
http://purl.obolibrary.org/obo/DOID_4388	bone peripheral neuroepithelioma	http://purl.obolibrary.org/obo/DOID_3368	Ewing sarcoma of bone		
http://purl.obolibrary.org/obo/DOID_5809	childhood parosteal osteogenic sarcoma	http://purl.obolibrary.org/obo/DOID_3373	parosteal osteosarcoma		
http://purl.obolibrary.org/obo/DOID_3373	parosteal osteosarcoma	http://purl.obolibrary.org/obo/DOID_3374	peripheral osteosarcoma		
http://purl.obolibrary.org/obo/DOID_6489	periosteal osteogenic sarcoma	http://purl.obolibrary.org/obo/DOID_3374	peripheral osteosarcoma		
http://purl.obolibrary.org/obo/DOID_3374	peripheral osteosarcoma	http://purl.obolibrary.org/obo/DOID_3376	bone osteosarcoma		
http://purl.obolibrary.org/obo/DOID_7542	osteosarcoma arising in bone Paget's disease	http://purl.obolibrary.org/obo/DOID_3376	bone osteosarcoma		
http://purl.obolibrary.org/obo/DOID_5693	adult liposarcoma	http://purl.obolibrary.org/obo/DOID_3382	liposarcoma		
http://purl.obolibrary.org/obo/DOID_5694	esophagus liposarcoma	http://purl.obolibrary.org/obo/DOID_5041	esophageal cancer		
http://purl.obolibrary.org/obo/DOID_5695	childhood liposarcoma	http://purl.obolibrary.org/obo/DOID_3382	liposarcoma		
http://purl.obolibrary.org/obo/DOID_5698	fibroblastic liposarcoma	http://purl.obolibrary.org/obo/DOID_3382	liposarcoma		
http://purl.obolibrary.org/obo/DOID_5702	pleomorphic liposarcoma	http://purl.obolibrary.org/obo/DOID_3382	liposarcoma		
http://purl.obolibrary.org/obo/DOID_5714	intracranial liposarcoma	http://purl.obolibrary.org/obo/DOID_3382	liposarcoma		
http://purl.obolibrary.org/obo/DOID_2570	malignant histiocytic disease	http://purl.obolibrary.org/obo/DOID_3405	histiocytosis		
http://purl.obolibrary.org/obo/DOID_4394	reticulohistiocytic granuloma	http://purl.obolibrary.org/obo/DOID_3405	histiocytosis		
http://purl.obolibrary.org/obo/DOID_1760	facial nerve neoplasm	http://purl.obolibrary.org/obo/DOID_3417	glossopharyngeal nerve neoplasm		
http://purl.obolibrary.org/obo/DOID_4992	optic nerve glioma	http://purl.obolibrary.org/obo/DOID_0060108	brain glioma		
http://purl.obolibrary.org/obo/DOID_5632	optic nerve sheath meningioma	http://purl.obolibrary.org/obo/DOID_3419	optic nerve neoplasm		
http://purl.obolibrary.org/obo/DOID_6334	anterior optic tract meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_6335	bilateral meningioma of optic nerve	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_3446	anal Paget's disease	http://purl.obolibrary.org/obo/DOID_3447	anus adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_3448	penis Paget's disease	http://purl.obolibrary.org/obo/DOID_3449	penis carcinoma		
http://purl.obolibrary.org/obo/DOID_4352	ciliary body cancer	http://purl.obolibrary.org/obo/DOID_4353	ciliary body disease		
http://purl.obolibrary.org/obo/DOID_6994	malignant iris melanoma	http://purl.obolibrary.org/obo/DOID_3478	iris cancer		
http://purl.obolibrary.org/obo/DOID_4558	Ludwig's angina	http://purl.obolibrary.org/obo/DOID_3488	cellulitis		
http://purl.obolibrary.org/obo/DOID_4659	extracutaneous mastocytoma	http://purl.obolibrary.org/obo/DOID_3664	mast cell neoplasm		
http://purl.obolibrary.org/obo/DOID_4660	indolent systemic mastocytosis	http://purl.obolibrary.org/obo/DOID_349	systemic mastocytosis		
http://purl.obolibrary.org/obo/DOID_4797	SM-AHNMD	http://purl.obolibrary.org/obo/DOID_349	systemic mastocytosis		
http://purl.obolibrary.org/obo/DOID_4798	aggressive systemic mastocytosis	http://purl.obolibrary.org/obo/DOID_349	systemic mastocytosis		
http://purl.obolibrary.org/obo/DOID_5926	extrahepatic bile duct small cell adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3495	extrahepatic bile duct adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_6931	papillary extrahepatic bile duct adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3495	extrahepatic bile duct adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_3497	pancreatic signet ring cell adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3498	pancreatic ductal adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_7716	mixed ductal-endocrine carcinoma	http://purl.obolibrary.org/obo/DOID_3498	pancreatic ductal adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_7718	osteoclast-like giant cell neoplasm of the pancreas	http://purl.obolibrary.org/obo/DOID_3498	pancreatic ductal adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_349	systemic mastocytosis	http://purl.obolibrary.org/obo/DOID_350	mastocytosis		
http://purl.obolibrary.org/obo/DOID_3499	gallbladder signet ring cell adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3500	gallbladder adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_7222	gallbladder pleomorphic giant cell adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3500	gallbladder adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_3501	ampullary signet ring cell adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3502	ampulla of Vater adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_5308	ampulla of Vater clear cell adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3502	ampulla of Vater adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_8110	periampullary adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3502	ampulla of Vater adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_8418	congenital fibrosarcoma	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		
http://purl.obolibrary.org/obo/DOID_3525	middle cerebral artery infarction	http://purl.obolibrary.org/obo/DOID_3526	cerebral infarction		
http://purl.obolibrary.org/obo/DOID_3528	anterior cerebral artery infarction	http://purl.obolibrary.org/obo/DOID_3526	cerebral infarction		
http://purl.obolibrary.org/obo/DOID_3821	posterior cerebral artery infarction	http://purl.obolibrary.org/obo/DOID_3526	cerebral infarction		
http://purl.obolibrary.org/obo/DOID_3542	adult choroid plexus cancer	http://purl.obolibrary.org/obo/DOID_3540	choroid plexus cancer		
http://purl.obolibrary.org/obo/DOID_3545	childhood choroid plexus cancer	http://purl.obolibrary.org/obo/DOID_3540	choroid plexus cancer		
http://purl.obolibrary.org/obo/DOID_4584	choroid plexus meningioma	http://purl.obolibrary.org/obo/DOID_6112	cerebral meningioma		
http://purl.obolibrary.org/obo/DOID_6370	hepatic osteogenic sarcoma	http://purl.obolibrary.org/obo/DOID_3571	liver cancer		
http://purl.obolibrary.org/obo/DOID_687	hepatoblastoma	http://purl.obolibrary.org/obo/DOID_3571	liver cancer		
http://purl.obolibrary.org/obo/DOID_901	liver lymphoma	http://purl.obolibrary.org/obo/DOID_0060058	lymphoma		
http://purl.obolibrary.org/obo/DOID_3574	lateral sinus thrombosis	http://purl.obolibrary.org/obo/DOID_3572	intracranial sinus thrombosis		
http://purl.obolibrary.org/obo/DOID_3575	cavernous sinus thrombosis	http://purl.obolibrary.org/obo/DOID_3572	intracranial sinus thrombosis		
http://purl.obolibrary.org/obo/DOID_3576	sagittal sinus thrombosis	http://purl.obolibrary.org/obo/DOID_3572	intracranial sinus thrombosis		
http://purl.obolibrary.org/obo/DOID_3607	appendix mucinous cystadenocarcinoma	http://purl.obolibrary.org/obo/DOID_3608	appendix adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_3617	epidural spinal canal angiolipoma	http://purl.obolibrary.org/obo/DOID_319	spinal cord disease		
http://purl.obolibrary.org/obo/DOID_6015	adult central nervous system teratoma	http://purl.obolibrary.org/obo/DOID_3640	central nervous system teratoma		
http://purl.obolibrary.org/obo/DOID_7103	diaphragma sellae meningioma	http://purl.obolibrary.org/obo/DOID_4437	skull base meningioma		
http://purl.obolibrary.org/obo/DOID_7713	tuberculum sellae meningioma	http://purl.obolibrary.org/obo/DOID_3643	sella turcica neoplasm		
http://purl.obolibrary.org/obo/DOID_8058	pituitary stalk meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_490	hemangioma of lung	http://purl.obolibrary.org/obo/DOID_255	hemangioma		
http://purl.obolibrary.org/obo/DOID_5364	pulmonary coin lesion	http://purl.obolibrary.org/obo/DOID_3683	lung benign neoplasm		
http://purl.obolibrary.org/obo/DOID_5763	lung clear cell-sugar-tumor	http://purl.obolibrary.org/obo/DOID_3683	lung benign neoplasm		
http://purl.obolibrary.org/obo/DOID_5766	pulmonary sclerosing hemangioma	http://purl.obolibrary.org/obo/DOID_255	hemangioma		
http://purl.obolibrary.org/obo/DOID_5767	hilar lung neoplasm	http://purl.obolibrary.org/obo/DOID_3683	lung benign neoplasm		
http://purl.obolibrary.org/obo/DOID_8119	anal canal Paget's disease	http://purl.obolibrary.org/obo/DOID_3692	anal canal adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_8256	olfactory neural tumor	http://purl.obolibrary.org/obo/DOID_370	malignant olfactory nerve neoplasm		
http://purl.obolibrary.org/obo/DOID_3710	bladder colloid adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3711	bladder adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_6481	bladder signet ring cell adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3711	bladder adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_6594	bladder colonic type adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3711	bladder adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_7694	bladder urachal adenocarcinoma	http://purl.obolibrary.org/obo/DOID_11817	urachus cancer		
http://purl.obolibrary.org/obo/DOID_8096	bladder mixed adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3711	bladder adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_8097	bladder hepatoid adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3711	bladder adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_3720	extramedullary plasmacytoma	http://purl.obolibrary.org/obo/DOID_3721	plasmacytoma		
http://purl.obolibrary.org/obo/DOID_3722	solitary osseous plasmacytoma	http://purl.obolibrary.org/obo/DOID_3721	plasmacytoma		
http://purl.obolibrary.org/obo/DOID_3723	solitary plasmacytoma of chest wall	http://purl.obolibrary.org/obo/DOID_3721	plasmacytoma		
http://purl.obolibrary.org/obo/DOID_3741	bladder verrucous squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_3742	bladder squamous cell carcinoma		
http://purl.obolibrary.org/obo/DOID_3747	esophagus verrucous carcinoma	http://purl.obolibrary.org/obo/DOID_3748	esophagus squamous cell carcinoma		
http://purl.obolibrary.org/obo/DOID_6115	lateral ventricle meningioma	http://purl.obolibrary.org/obo/DOID_3541	cerebral ventricle cancer		
http://purl.obolibrary.org/obo/DOID_3828	chromophobe adenoma	http://purl.obolibrary.org/obo/DOID_3829	pituitary adenoma		
http://purl.obolibrary.org/obo/DOID_4542	basophil adenoma	http://purl.obolibrary.org/obo/DOID_9500	leukocyte disease		
http://purl.obolibrary.org/obo/DOID_5392	acidophil adenoma	http://purl.obolibrary.org/obo/DOID_9500	leukocyte disease		
http://purl.obolibrary.org/obo/DOID_5395	functioning pituitary adenoma	http://purl.obolibrary.org/obo/DOID_3829	pituitary adenoma		
http://purl.obolibrary.org/obo/DOID_5715	functionless pituitary adenoma	http://purl.obolibrary.org/obo/DOID_3829	pituitary adenoma		
http://purl.obolibrary.org/obo/DOID_7179	mixed eosinophil-basophil adenoma	http://purl.obolibrary.org/obo/DOID_3829	pituitary adenoma		
http://purl.obolibrary.org/obo/DOID_3846	adamantinous craniopharyngioma	http://purl.obolibrary.org/obo/DOID_3840	craniopharyngioma		
http://purl.obolibrary.org/obo/DOID_3847	papillary craniopharyngioma	http://purl.obolibrary.org/obo/DOID_3840	craniopharyngioma		
http://purl.obolibrary.org/obo/DOID_3643	sella turcica neoplasm	http://purl.obolibrary.org/obo/DOID_3842	skull base cancer		
http://purl.obolibrary.org/obo/DOID_4435	cavernous sinus meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_4437	skull base meningioma	http://purl.obolibrary.org/obo/DOID_3842	skull base cancer		
http://purl.obolibrary.org/obo/DOID_4855	diencephalic astrocytoma	http://purl.obolibrary.org/obo/DOID_3070	high grade glioma		
http://purl.obolibrary.org/obo/DOID_6098	thalamic neoplasm	http://purl.obolibrary.org/obo/DOID_3843	diencephalic neoplasm		
http://purl.obolibrary.org/obo/DOID_3876	colonic pseudo-obstruction	http://purl.obolibrary.org/obo/DOID_3877	functional colonic disease		
http://purl.obolibrary.org/obo/DOID_2061	nodular hidradenoma	http://purl.obolibrary.org/obo/DOID_3896	hidradenoma		
http://purl.obolibrary.org/obo/DOID_5439	papillary hidradenoma	http://purl.obolibrary.org/obo/DOID_3896	hidradenoma		
http://purl.obolibrary.org/obo/DOID_5443	clear cell hidradenoma	http://purl.obolibrary.org/obo/DOID_3896	hidradenoma		
http://purl.obolibrary.org/obo/DOID_6510	lung occult squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_3907	lung squamous cell carcinoma		
http://purl.obolibrary.org/obo/DOID_7045	basaloid lung carcinoma	http://purl.obolibrary.org/obo/DOID_3907	lung squamous cell carcinoma		
http://purl.obolibrary.org/obo/DOID_6482	lung acinar adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3910	lung adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_7168	lung occult adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3910	lung adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_3917	pancreatic serous cystadenoma	http://purl.obolibrary.org/obo/DOID_3918	pancreatic cystadenoma		
http://purl.obolibrary.org/obo/DOID_7235	pancreatic mucinous cystadenoma	http://purl.obolibrary.org/obo/DOID_3918	pancreatic cystadenoma		
http://purl.obolibrary.org/obo/DOID_7735	pancreatic colloid cystadenoma	http://purl.obolibrary.org/obo/DOID_3918	pancreatic cystadenoma		
http://purl.obolibrary.org/obo/DOID_660	adrenal cortex cancer	http://purl.obolibrary.org/obo/DOID_3952	adrenal cortex disease		
http://purl.obolibrary.org/obo/DOID_8140	adrenal gland ganglioneuroblastoma	http://purl.obolibrary.org/obo/DOID_3953	adrenal gland cancer		
http://purl.obolibrary.org/obo/DOID_3964	trabecular follicular adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3962	follicular thyroid carcinoma		
http://purl.obolibrary.org/obo/DOID_6477	invasive bladder transitional cell carcinoma	http://purl.obolibrary.org/obo/DOID_4006	bladder urothelial carcinoma		
http://purl.obolibrary.org/obo/DOID_6571	non-invasive bladder urothelial carcinoma	http://purl.obolibrary.org/obo/DOID_4006	bladder urothelial carcinoma		
http://purl.obolibrary.org/obo/DOID_6975	bladder urothelial papillary carcinoma	http://purl.obolibrary.org/obo/DOID_4006	bladder urothelial carcinoma		
http://purl.obolibrary.org/obo/DOID_5958	bladder urachal carcinoma	http://purl.obolibrary.org/obo/DOID_11817	urachus cancer		
http://purl.obolibrary.org/obo/DOID_7132	urinary bladder small cell neuroendocrine carcinoma	http://purl.obolibrary.org/obo/DOID_4007	bladder carcinoma		
http://purl.obolibrary.org/obo/DOID_7315	Jewett-Marshall bladder cancer	http://purl.obolibrary.org/obo/DOID_4007	bladder carcinoma		
http://purl.obolibrary.org/obo/DOID_4030	eosinophilic gastritis	http://purl.obolibrary.org/obo/DOID_4029	gastritis		
http://purl.obolibrary.org/obo/DOID_4035	lymphocytic gastritis	http://purl.obolibrary.org/obo/DOID_4029	gastritis		
http://purl.obolibrary.org/obo/DOID_4037	necrotizing gastritis	http://purl.obolibrary.org/obo/DOID_4029	gastritis		
http://purl.obolibrary.org/obo/DOID_4038	granulomatous gastritis	http://purl.obolibrary.org/obo/DOID_4029	gastritis		
http://purl.obolibrary.org/obo/DOID_8680	alcoholic gastritis	http://purl.obolibrary.org/obo/DOID_4029	gastritis		
http://purl.obolibrary.org/obo/DOID_8757	gastric mucosal hypertrophy	http://purl.obolibrary.org/obo/DOID_4029	gastritis		
http://purl.obolibrary.org/obo/DOID_8929	atrophic gastritis	http://purl.obolibrary.org/obo/DOID_4029	gastritis		
http://purl.obolibrary.org/obo/DOID_6208	mediastinal osteogenic sarcoma	http://purl.obolibrary.org/obo/DOID_4050	mediastinum sarcoma		
http://purl.obolibrary.org/obo/DOID_4071	duodenogastric reflux	http://purl.obolibrary.org/obo/DOID_4072	duodenum disease		
http://purl.obolibrary.org/obo/DOID_4073	pancreatic cystadenocarcinoma	http://purl.obolibrary.org/obo/DOID_4074	pancreatic adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_7574	pancreatic intraductal papillary-colloid carcinoma	http://purl.obolibrary.org/obo/DOID_7575	pancreatic intraductal papillary-mucinous neoplasm		
http://purl.obolibrary.org/obo/DOID_7577	pancreatic foamy gland adenocarcinoma	http://purl.obolibrary.org/obo/DOID_4074	pancreatic adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_3590	gestational trophoblastic neoplasm	http://purl.obolibrary.org/obo/DOID_1380	endometrial cancer		
http://purl.obolibrary.org/obo/DOID_3593	epithelioid trophoblastic tumor	http://purl.obolibrary.org/obo/DOID_1324	lung cancer		
http://purl.obolibrary.org/obo/DOID_4084	testicular trophoblastic tumor	http://purl.obolibrary.org/obo/DOID_2998	testicular cancer		
http://purl.obolibrary.org/obo/DOID_4715	gastric neuroendocrine neoplasm	http://purl.obolibrary.org/obo/DOID_4148	gastrointestinal neuroendocrine benign tumor		
http://purl.obolibrary.org/obo/DOID_7402	L-cell glucagon-like peptide producing tumor	http://purl.obolibrary.org/obo/DOID_4148	gastrointestinal neuroendocrine benign tumor		
http://purl.obolibrary.org/obo/DOID_4175	Rh isoimmunization	http://purl.obolibrary.org/obo/DOID_4176	blood group incompatibility		
http://purl.obolibrary.org/obo/DOID_8472	localized scleroderma	http://purl.obolibrary.org/obo/DOID_419	scleroderma		
http://purl.obolibrary.org/obo/DOID_3410	carotid artery thrombosis	http://purl.obolibrary.org/obo/DOID_3407	carotid artery disease		
http://purl.obolibrary.org/obo/DOID_3572	intracranial sinus thrombosis	http://purl.obolibrary.org/obo/DOID_4193	intracranial thrombosis		
http://purl.obolibrary.org/obo/DOID_6383	childhood brain stem glioma	http://purl.obolibrary.org/obo/DOID_4206	childhood brain stem neoplasm		
http://purl.obolibrary.org/obo/DOID_4409	folliculitis	http://purl.obolibrary.org/obo/DOID_2723	dermatitis		
http://purl.obolibrary.org/obo/DOID_4209	brainstem intraparenchymal clear cell meningioma	http://purl.obolibrary.org/obo/DOID_4210	clear cell meningioma		
http://purl.obolibrary.org/obo/DOID_6517	clivus meningioma	http://purl.obolibrary.org/obo/DOID_4437	skull base meningioma		
http://purl.obolibrary.org/obo/DOID_4415	fibrous histiocytoma	http://purl.obolibrary.org/obo/DOID_4231	histiocytoma		
http://purl.obolibrary.org/obo/DOID_4389	soft tissue peripheral neuroepithelioma	http://purl.obolibrary.org/obo/DOID_4232	extraosseous Ewing sarcoma		
http://purl.obolibrary.org/obo/DOID_4985	extraosseous Ewings sarcoma-primitive neuroepithelial tumor	http://purl.obolibrary.org/obo/DOID_4232	extraosseous Ewing sarcoma		
http://purl.obolibrary.org/obo/DOID_4422	malignant adenofibroma	http://purl.obolibrary.org/obo/DOID_4236	carcinosarcoma		
http://purl.obolibrary.org/obo/DOID_5982	kidney fibrosarcoma	http://purl.obolibrary.org/obo/DOID_4242	kidney sarcoma		
http://purl.obolibrary.org/obo/DOID_4247	coronary restenosis	http://purl.obolibrary.org/obo/DOID_4248	coronary stenosis		
http://purl.obolibrary.org/obo/DOID_4266	intravascular angioleiomyoma	http://purl.obolibrary.org/obo/DOID_4265	angiomyoma		
http://purl.obolibrary.org/obo/DOID_1866	giant cell reparative granuloma	http://purl.obolibrary.org/obo/DOID_4305	bone giant cell tumor		
http://purl.obolibrary.org/obo/DOID_6523	ciliary body mixed cell melanoma	http://purl.obolibrary.org/obo/DOID_6522	mixed cell uveal melanoma		
http://purl.obolibrary.org/obo/DOID_6524	malignant ciliary body melanoma	http://purl.obolibrary.org/obo/DOID_4352	ciliary body cancer		
http://purl.obolibrary.org/obo/DOID_7042	ciliary body epithelioid cell melanoma	http://purl.obolibrary.org/obo/DOID_7040	uveal epithelioid cell melanoma		
http://purl.obolibrary.org/obo/DOID_7040	uveal epithelioid cell melanoma	http://purl.obolibrary.org/obo/DOID_6039	uveal melanoma		
http://purl.obolibrary.org/obo/DOID_7041	choroid epithelioid cell melanoma	http://purl.obolibrary.org/obo/DOID_6438	malignant choroid melanoma		
http://purl.obolibrary.org/obo/DOID_4418	cutaneous fibrous histiocytoma	http://purl.obolibrary.org/obo/DOID_3165	skin benign neoplasm		
http://purl.obolibrary.org/obo/DOID_7840	pancreatic non-functioning delta cell tumor	http://purl.obolibrary.org/obo/DOID_7698	non-functioning pancreatic endocrine tumor		
http://purl.obolibrary.org/obo/DOID_7986	cerebral falx meningioma	http://purl.obolibrary.org/obo/DOID_4436	anterior cranial fossa meningioma		
http://purl.obolibrary.org/obo/DOID_8057	olfactory groove meningioma	http://purl.obolibrary.org/obo/DOID_4436	anterior cranial fossa meningioma		
http://purl.obolibrary.org/obo/DOID_4708	foramen magnum meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_7054	multiple skull base meningioma	http://purl.obolibrary.org/obo/DOID_4437	skull base meningioma		
http://purl.obolibrary.org/obo/DOID_7818	petroclival meningioma	http://purl.obolibrary.org/obo/DOID_4437	skull base meningioma		
http://purl.obolibrary.org/obo/DOID_7819	sphenoorbital meningioma	http://purl.obolibrary.org/obo/DOID_4437	skull base meningioma		
http://purl.obolibrary.org/obo/DOID_7820	sphenocavernous meningioma	http://purl.obolibrary.org/obo/DOID_4437	skull base meningioma		
http://purl.obolibrary.org/obo/DOID_7867	adult central nervous system germinoma	http://purl.obolibrary.org/obo/DOID_4438	central nervous system germinoma		
http://purl.obolibrary.org/obo/DOID_8078	childhood central nervous system germinoma	http://purl.obolibrary.org/obo/DOID_4438	central nervous system germinoma		
http://purl.obolibrary.org/obo/DOID_4438	central nervous system germinoma	http://purl.obolibrary.org/obo/DOID_4439	central nervous system germ cell tumor		
http://purl.obolibrary.org/obo/DOID_5343	central nervous system endodermal sinus tumor	http://purl.obolibrary.org/obo/DOID_4439	central nervous system germ cell tumor		
http://purl.obolibrary.org/obo/DOID_5349	central nervous system adult germ cell tumor	http://purl.obolibrary.org/obo/DOID_4439	central nervous system germ cell tumor		
http://purl.obolibrary.org/obo/DOID_6052	central nervous system childhood germ cell tumor	http://purl.obolibrary.org/obo/DOID_4439	central nervous system germ cell tumor		
http://purl.obolibrary.org/obo/DOID_5838	extragonadal seminoma	http://purl.obolibrary.org/obo/DOID_4440	seminoma		
http://purl.obolibrary.org/obo/DOID_4447	cystoid macular edema	http://purl.obolibrary.org/obo/DOID_4449	macular retinal edema		
http://purl.obolibrary.org/obo/DOID_4454	childhood kidney cell carcinoma	http://purl.obolibrary.org/obo/DOID_4450	renal cell carcinoma		
http://purl.obolibrary.org/obo/DOID_4463	multilocular clear cell renal cell carcinoma	http://purl.obolibrary.org/obo/DOID_4450	renal cell carcinoma		
http://purl.obolibrary.org/obo/DOID_4472	mucinous tubular and spindle renal cell carcinoma	http://purl.obolibrary.org/obo/DOID_4450	renal cell carcinoma		
http://purl.obolibrary.org/obo/DOID_4473	sarcomatoid renal cell carcinoma	http://purl.obolibrary.org/obo/DOID_4450	renal cell carcinoma		
http://purl.obolibrary.org/obo/DOID_6605	classic variant of chromophobe renal cell carcinoma	http://purl.obolibrary.org/obo/DOID_4471	chromophobe renal cell carcinoma		
http://purl.obolibrary.org/obo/DOID_6606	eosinophilic variant of chromophobe renal cell carcinoma	http://purl.obolibrary.org/obo/DOID_4471	chromophobe renal cell carcinoma		
http://purl.obolibrary.org/obo/DOID_4546	childhood mesenchymal chondrosarcoma	http://purl.obolibrary.org/obo/DOID_4545	mesenchymal chondrosarcoma		
http://purl.obolibrary.org/obo/DOID_4548	extraskeletal mesenchymal chondrosarcoma	http://purl.obolibrary.org/obo/DOID_4549	extraskeletal myxoid chondrosarcoma		
http://purl.obolibrary.org/obo/DOID_7903	intracranial chondrosarcoma	http://purl.obolibrary.org/obo/DOID_4549	extraskeletal myxoid chondrosarcoma		
http://purl.obolibrary.org/obo/DOID_4550	anal gland neoplasm	http://purl.obolibrary.org/obo/DOID_4551	anus benign neoplasm		
http://purl.obolibrary.org/obo/DOID_5545	anal neuroendocrine tumor	http://purl.obolibrary.org/obo/DOID_4551	anus benign neoplasm		
http://purl.obolibrary.org/obo/DOID_4044	skeletal muscle neoplasm	http://purl.obolibrary.org/obo/DOID_461	muscle benign neoplasm		
http://purl.obolibrary.org/obo/DOID_4310	smooth muscle tumor	http://purl.obolibrary.org/obo/DOID_461	muscle benign neoplasm		
http://purl.obolibrary.org/obo/DOID_468	intramuscular hemangioma	http://purl.obolibrary.org/obo/DOID_255	hemangioma		
http://purl.obolibrary.org/obo/DOID_5039	myoblastoma	http://purl.obolibrary.org/obo/DOID_461	muscle benign neoplasm		
http://purl.obolibrary.org/obo/DOID_4636	submandibular adenitis	http://purl.obolibrary.org/obo/DOID_4637	cervical adenitis		
http://purl.obolibrary.org/obo/DOID_5240	retinal hemangioblastoma	http://purl.obolibrary.org/obo/DOID_0050687	cell type cancer		
http://purl.obolibrary.org/obo/DOID_774	retina lymphoma	http://purl.obolibrary.org/obo/DOID_0060058	lymphoma		
http://purl.obolibrary.org/obo/DOID_8427	retinal melanoma	http://purl.obolibrary.org/obo/DOID_4645	retinal cancer		
http://purl.obolibrary.org/obo/DOID_4675	uremic neuropathy	http://purl.obolibrary.org/obo/DOID_4676	uremia		
http://purl.obolibrary.org/obo/DOID_9698	gonococcal endophthalmia	http://purl.obolibrary.org/obo/DOID_4692	endophthalmitis		
http://purl.obolibrary.org/obo/DOID_5913	brachial plexus neoplasm	http://purl.obolibrary.org/obo/DOID_4693	nerve plexus neoplasm		
http://purl.obolibrary.org/obo/DOID_8389	lumbar plexus neoplasm	http://purl.obolibrary.org/obo/DOID_4693	nerve plexus neoplasm		
http://purl.obolibrary.org/obo/DOID_4696	intraneural perineurioma	http://purl.obolibrary.org/obo/DOID_4697	perineurioma		
http://purl.obolibrary.org/obo/DOID_6381	anterior foramen magnum meningioma	http://purl.obolibrary.org/obo/DOID_4708	foramen magnum meningioma		
http://purl.obolibrary.org/obo/DOID_6553	posterior foramen magnum meningioma	http://purl.obolibrary.org/obo/DOID_4708	foramen magnum meningioma		
http://purl.obolibrary.org/obo/DOID_6161	childhood testicular mixed germ cell tumor	http://purl.obolibrary.org/obo/DOID_4743	mixed testicular germ cell tumor		
http://purl.obolibrary.org/obo/DOID_4751	striatonigral degeneration	http://purl.obolibrary.org/obo/DOID_4752	multiple system atrophy		
http://purl.obolibrary.org/obo/DOID_4756	testicular Leydig cell tumor	http://purl.obolibrary.org/obo/DOID_4757	testicular sex cord-stromal neoplasm		
http://purl.obolibrary.org/obo/DOID_4767	classic pulmonary blastoma	http://purl.obolibrary.org/obo/DOID_4765	pulmonary blastoma		
http://purl.obolibrary.org/obo/DOID_4768	epithelial predominant pulmonary blastoma	http://purl.obolibrary.org/obo/DOID_4765	pulmonary blastoma		
http://purl.obolibrary.org/obo/DOID_8082	cellular congenital mesoblastic nephroma	http://purl.obolibrary.org/obo/DOID_4773	congenital mesoblastic nephroma		
http://purl.obolibrary.org/obo/DOID_8083	classic congenital mesoblastic nephroma	http://purl.obolibrary.org/obo/DOID_4773	congenital mesoblastic nephroma		
http://purl.obolibrary.org/obo/DOID_5948	angiokeratoma of mibelli	http://purl.obolibrary.org/obo/DOID_479	angiokeratoma		
http://purl.obolibrary.org/obo/DOID_4812	adult brainstem gliosarcoma	http://purl.obolibrary.org/obo/DOID_4813	adult brain stem glioma		
http://purl.obolibrary.org/obo/DOID_5921	adult brainstem mixed glioma	http://purl.obolibrary.org/obo/DOID_4813	adult brain stem glioma		
http://purl.obolibrary.org/obo/DOID_5922	adult brainstem astrocytoma	http://purl.obolibrary.org/obo/DOID_4813	adult brain stem glioma		
http://purl.obolibrary.org/obo/DOID_4839	sebaceous adenocarcinoma	http://purl.obolibrary.org/obo/DOID_4840	sebaceous carcinoma		
http://purl.obolibrary.org/obo/DOID_5077	subependymal giant cell astrocytoma	http://purl.obolibrary.org/obo/DOID_4843	subependymal glioma		
http://purl.obolibrary.org/obo/DOID_4843	subependymal glioma	http://purl.obolibrary.org/obo/DOID_4844	benign ependymoma		
http://purl.obolibrary.org/obo/DOID_5075	myxopapillary ependymoma	http://purl.obolibrary.org/obo/DOID_4844	benign ependymoma		
http://purl.obolibrary.org/obo/DOID_5500	cellular ependymoma	http://purl.obolibrary.org/obo/DOID_4844	benign ependymoma		
http://purl.obolibrary.org/obo/DOID_5504	tanycytic ependymoma	http://purl.obolibrary.org/obo/DOID_4844	benign ependymoma		
http://purl.obolibrary.org/obo/DOID_5505	papillary ependymoma	http://purl.obolibrary.org/obo/DOID_4844	benign ependymoma		
http://purl.obolibrary.org/obo/DOID_5507	clear cell ependymoma	http://purl.obolibrary.org/obo/DOID_4844	benign ependymoma		
http://purl.obolibrary.org/obo/DOID_4846	cauda equina intradural extramedullary astrocytoma	http://purl.obolibrary.org/obo/DOID_4847	cauda equina neoplasm		
http://purl.obolibrary.org/obo/DOID_4853	pilocytic astrocytoma of cerebellum	http://purl.obolibrary.org/obo/DOID_4848	cerebellar astrocytoma		
http://purl.obolibrary.org/obo/DOID_6286	childhood cerebellar astrocytic neoplasm	http://purl.obolibrary.org/obo/DOID_4848	cerebellar astrocytoma		
http://purl.obolibrary.org/obo/DOID_4075	bile duct cystadenocarcinoma	http://purl.obolibrary.org/obo/DOID_4896	bile duct adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_3494	bile duct signet ring cell carcinoma	http://purl.obolibrary.org/obo/DOID_4897	bile duct carcinoma		
http://purl.obolibrary.org/obo/DOID_5923	distal biliary tract carcinoma	http://purl.obolibrary.org/obo/DOID_4897	bile duct carcinoma		
http://purl.obolibrary.org/obo/DOID_6228	peritoneal serous papillary adenocarcinoma	http://purl.obolibrary.org/obo/DOID_4901	peritoneal serous adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_6823	pancreatoblastoma	http://purl.obolibrary.org/obo/DOID_4905	pancreatic carcinoma		
http://purl.obolibrary.org/obo/DOID_7717	colloid carcinoma of the pancreas	http://purl.obolibrary.org/obo/DOID_4905	pancreatic carcinoma		
http://purl.obolibrary.org/obo/DOID_7941	Barrett's adenocarcinoma	http://purl.obolibrary.org/obo/DOID_4914	esophagus adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_4915	basophilic adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_5591	eccrine papillary adenocarcinoma	http://purl.obolibrary.org/obo/DOID_4920	eccrine adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_5569	malignant syringoma	http://purl.obolibrary.org/obo/DOID_4921	eccrine sweat gland cancer		
http://purl.obolibrary.org/obo/DOID_7566	eccrine porocarcinoma	http://purl.obolibrary.org/obo/DOID_4921	eccrine sweat gland cancer		
http://purl.obolibrary.org/obo/DOID_7960	malignant spiradenoma	http://purl.obolibrary.org/obo/DOID_4921	eccrine sweat gland cancer		
http://purl.obolibrary.org/obo/DOID_5595	papillary thymic adenocarcinoma	http://purl.obolibrary.org/obo/DOID_4923	thymus adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_7024	mucinous intrahepatic cholangiocarcinoma	http://purl.obolibrary.org/obo/DOID_4928	intrahepatic cholangiocarcinoma		
http://purl.obolibrary.org/obo/DOID_7642	cholangiolocellular carcinoma	http://purl.obolibrary.org/obo/DOID_4928	intrahepatic cholangiocarcinoma		
http://purl.obolibrary.org/obo/DOID_7733	signet ring cell intrahepatic cholangiocarcinoma	http://purl.obolibrary.org/obo/DOID_4928	intrahepatic cholangiocarcinoma		
http://purl.obolibrary.org/obo/DOID_8072	sarcomatous intrahepatic cholangiocarcinoma	http://purl.obolibrary.org/obo/DOID_4928	intrahepatic cholangiocarcinoma		
http://purl.obolibrary.org/obo/DOID_8415	carcinoma arising in nasal papillomatosis	http://purl.obolibrary.org/obo/DOID_4931	nasal cavity carcinoma		
http://purl.obolibrary.org/obo/DOID_7136	ampulla of Vater small cell carcinoma	http://purl.obolibrary.org/obo/DOID_4932	ampulla of Vater carcinoma		
http://purl.obolibrary.org/obo/DOID_6446	ceruminous adenocarcinoma	http://purl.obolibrary.org/obo/DOID_4933	apocrine carcinoma		
http://purl.obolibrary.org/obo/DOID_6998	gallbladder mucinous carcinoma	http://purl.obolibrary.org/obo/DOID_4948	gallbladder carcinoma		
http://purl.obolibrary.org/obo/DOID_7133	gallbladder small cell carcinoma	http://purl.obolibrary.org/obo/DOID_4948	gallbladder carcinoma		
http://purl.obolibrary.org/obo/DOID_8106	cellular phase chronic idiopathic myelofibrosis	http://purl.obolibrary.org/obo/DOID_4971	myelofibrosis		
http://purl.obolibrary.org/obo/DOID_4988	alcoholic pancreatitis	http://purl.obolibrary.org/obo/DOID_4989	pancreatitis		
http://purl.obolibrary.org/obo/DOID_6575	childhood optic tract astrocytoma	http://purl.obolibrary.org/obo/DOID_4991	optic nerve astrocytoma		
http://purl.obolibrary.org/obo/DOID_4991	optic nerve astrocytoma	http://purl.obolibrary.org/obo/DOID_3070	high grade glioma		
http://purl.obolibrary.org/obo/DOID_6576	childhood optic nerve glioma	http://purl.obolibrary.org/obo/DOID_4992	optic nerve glioma		
http://purl.obolibrary.org/obo/DOID_4055	ectomesenchymoma	http://purl.obolibrary.org/obo/DOID_502	central nervous system mesenchymal non-meningothelial tumor		
http://purl.obolibrary.org/obo/DOID_7994	central nervous system osteosarcoma	http://purl.obolibrary.org/obo/DOID_502	central nervous system mesenchymal non-meningothelial tumor		
http://purl.obolibrary.org/obo/DOID_6648	adult pineoblastoma	http://purl.obolibrary.org/obo/DOID_5031	adult pineal parenchymal tumor		
http://purl.obolibrary.org/obo/DOID_5057	papillary meningioma of the cerebellum	http://purl.obolibrary.org/obo/DOID_4205	cerebellum cancer		
http://purl.obolibrary.org/obo/DOID_7826	adult papillary meningioma	http://purl.obolibrary.org/obo/DOID_5058	rhabdoid meningioma		
http://purl.obolibrary.org/obo/DOID_5509	childhood ependymoma	http://purl.obolibrary.org/obo/DOID_5074	high grade ependymoma		
http://purl.obolibrary.org/obo/DOID_5889	anaplastic ependymoma	http://purl.obolibrary.org/obo/DOID_5074	high grade ependymoma		
http://purl.obolibrary.org/obo/DOID_5890	malignant adult ependymoma	http://purl.obolibrary.org/obo/DOID_5074	high grade ependymoma		
http://purl.obolibrary.org/obo/DOID_7817	mixed astrocytoma-ependymoma-oligodendroglioma	http://purl.obolibrary.org/obo/DOID_5076	mixed glioma		
http://purl.obolibrary.org/obo/DOID_7907	mixed astrocytoma-ependymoma	http://purl.obolibrary.org/obo/DOID_5076	mixed glioma		
http://purl.obolibrary.org/obo/DOID_7912	mixed oligodendroglioma-astrocytoma	http://purl.obolibrary.org/obo/DOID_5076	mixed glioma		
http://purl.obolibrary.org/obo/DOID_6762	sternum lymphoma	http://purl.obolibrary.org/obo/DOID_0060058	lymphoma		
http://purl.obolibrary.org/obo/DOID_5990	internal auditory canal meningioma	http://purl.obolibrary.org/obo/DOID_5102	inner ear cancer		
http://purl.obolibrary.org/obo/DOID_6608	endobronchial leiomyoma	http://purl.obolibrary.org/obo/DOID_5136	lung leiomyoma		
http://purl.obolibrary.org/obo/DOID_7949	stroma-dominant and stroma-poor composite ganglioneuroblastoma	http://purl.obolibrary.org/obo/DOID_5193	nodular ganglioneuroblastoma		
http://purl.obolibrary.org/obo/DOID_7951	Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma	http://purl.obolibrary.org/obo/DOID_5193	nodular ganglioneuroblastoma		
http://purl.obolibrary.org/obo/DOID_7441	chronic metabolic polyneuropathy	http://purl.obolibrary.org/obo/DOID_5221	chronic polyneuropathy		
http://purl.obolibrary.org/obo/DOID_7825	chronic toxic polyneuropathy	http://purl.obolibrary.org/obo/DOID_5221	chronic polyneuropathy		
http://purl.obolibrary.org/obo/DOID_8020	glomangiomyoma	http://purl.obolibrary.org/obo/DOID_5238	benign perivascular tumor		
http://purl.obolibrary.org/obo/DOID_5261	heart leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_5262	heart sarcoma		
http://purl.obolibrary.org/obo/DOID_6033	heart fibrosarcoma	http://purl.obolibrary.org/obo/DOID_5262	heart sarcoma		
http://purl.obolibrary.org/obo/DOID_1906	malignant skin fibrous histiocytoma	http://purl.obolibrary.org/obo/DOID_5274	malignant dermis tumor		
http://purl.obolibrary.org/obo/DOID_7639	malignant granular cell skin tumor	http://purl.obolibrary.org/obo/DOID_5274	malignant dermis tumor		
http://purl.obolibrary.org/obo/DOID_6210	bladder diffuse clear cell adenocarcinoma	http://purl.obolibrary.org/obo/DOID_5306	bladder clear cell adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_8050	bladder tubulo-cystic clear cell adenocarcinoma	http://purl.obolibrary.org/obo/DOID_5306	bladder clear cell adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_8051	bladder papillary clear cell adenocarcinoma	http://purl.obolibrary.org/obo/DOID_5306	bladder clear cell adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_6307	ectopic thymus	http://purl.obolibrary.org/obo/DOID_533	thymus gland disease		
http://purl.obolibrary.org/obo/DOID_7350	thymic dysplasia	http://purl.obolibrary.org/obo/DOID_533	thymus gland disease		
http://purl.obolibrary.org/obo/DOID_6032	juvenile type testicular granulosa cell tumor	http://purl.obolibrary.org/obo/DOID_5331	testicular granulosa cell tumor		
http://purl.obolibrary.org/obo/DOID_8394	adult type testicular granulosa cell tumor	http://purl.obolibrary.org/obo/DOID_5331	testicular granulosa cell tumor		
http://purl.obolibrary.org/obo/DOID_7280	congenital epulis	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		
http://purl.obolibrary.org/obo/DOID_7097	macrocystic pattern testicular yolk sac tumor	http://purl.obolibrary.org/obo/DOID_5344	testicular yolk sac tumor		
http://purl.obolibrary.org/obo/DOID_7302	endodermal sinus pattern testicular yolk sac tumor	http://purl.obolibrary.org/obo/DOID_5344	testicular yolk sac tumor		
http://purl.obolibrary.org/obo/DOID_7360	solid pattern testicular yolk sac tumor	http://purl.obolibrary.org/obo/DOID_5344	testicular yolk sac tumor		
http://purl.obolibrary.org/obo/DOID_7435	polyvesicular vitelline pattern testicular yolk sac tumor	http://purl.obolibrary.org/obo/DOID_5344	testicular yolk sac tumor		
http://purl.obolibrary.org/obo/DOID_7930	glandular-alveolar pattern testicular yolk sac tumor	http://purl.obolibrary.org/obo/DOID_5344	testicular yolk sac tumor		
http://purl.obolibrary.org/obo/DOID_8081	myxomatous pattern testicular yolk sac tumor	http://purl.obolibrary.org/obo/DOID_5344	testicular yolk sac tumor		
http://purl.obolibrary.org/obo/DOID_8193	papillary pattern testicular yolk sac tumor	http://purl.obolibrary.org/obo/DOID_5344	testicular yolk sac tumor		
http://purl.obolibrary.org/obo/DOID_8195	hepatoid pattern testicular yolk sac tumor	http://purl.obolibrary.org/obo/DOID_5344	testicular yolk sac tumor		
http://purl.obolibrary.org/obo/DOID_8362	enteric pattern testicular yolk sac tumor	http://purl.obolibrary.org/obo/DOID_5344	testicular yolk sac tumor		
http://purl.obolibrary.org/obo/DOID_8392	reticular pattern testicular yolk sac tumor	http://purl.obolibrary.org/obo/DOID_5344	testicular yolk sac tumor		
http://purl.obolibrary.org/obo/DOID_5344	testicular yolk sac tumor	http://purl.obolibrary.org/obo/DOID_5345	testicular non-seminomatous germ cell cancer		
http://purl.obolibrary.org/obo/DOID_5374	pilomatrixoma	http://purl.obolibrary.org/obo/DOID_5375	hair follicle neoplasm		
http://purl.obolibrary.org/obo/DOID_8426	follicular infundibulum tumor	http://purl.obolibrary.org/obo/DOID_5375	hair follicle neoplasm		
http://purl.obolibrary.org/obo/DOID_7030	bronchial mucus gland adenoma	http://purl.obolibrary.org/obo/DOID_5391	bronchus adenoma		
http://purl.obolibrary.org/obo/DOID_5394	prolactinoma	http://purl.obolibrary.org/obo/DOID_5395	functioning pituitary adenoma		
http://purl.obolibrary.org/obo/DOID_6255	growth hormone secreting pituitary adenoma	http://purl.obolibrary.org/obo/DOID_5395	functioning pituitary adenoma		
http://purl.obolibrary.org/obo/DOID_6275	TSH producing pituitary tumor	http://purl.obolibrary.org/obo/DOID_5395	functioning pituitary adenoma		
http://purl.obolibrary.org/obo/DOID_7081	lung mixed small cell and squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_5410	pulmonary neuroendocrine tumor		
http://purl.obolibrary.org/obo/DOID_6239	non-invasive bladder papillary urothelial neoplasm	http://purl.obolibrary.org/obo/DOID_5432	bladder papillary transitional cell neoplasm		
http://purl.obolibrary.org/obo/DOID_6933	bladder transitional cell papilloma	http://purl.obolibrary.org/obo/DOID_5432	bladder papillary transitional cell neoplasm		
http://purl.obolibrary.org/obo/DOID_5432	bladder papillary transitional cell neoplasm	http://purl.obolibrary.org/obo/DOID_5433	urinary tract papillary transitional cell benign neoplasm		
http://purl.obolibrary.org/obo/DOID_6065	urinary tract non-invasive transitional cell neoplasm	http://purl.obolibrary.org/obo/DOID_5433	urinary tract papillary transitional cell benign neoplasm		
http://purl.obolibrary.org/obo/DOID_6198	corneal intraepithelial neoplasm	http://purl.obolibrary.org/obo/DOID_10124	corneal disease		
http://purl.obolibrary.org/obo/DOID_5484	fibrous synovial sarcoma	http://purl.obolibrary.org/obo/DOID_5485	synovial sarcoma		
http://purl.obolibrary.org/obo/DOID_5487	spindle cell synovial sarcoma	http://purl.obolibrary.org/obo/DOID_5485	synovial sarcoma		
http://purl.obolibrary.org/obo/DOID_5492	biphasic synovial sarcoma	http://purl.obolibrary.org/obo/DOID_5485	synovial sarcoma		
http://purl.obolibrary.org/obo/DOID_5494	epithelioid cell synovial sarcoma	http://purl.obolibrary.org/obo/DOID_5485	synovial sarcoma		
http://purl.obolibrary.org/obo/DOID_5495	monophasic synovial sarcoma	http://purl.obolibrary.org/obo/DOID_5485	synovial sarcoma		
http://purl.obolibrary.org/obo/DOID_7788	adult spinal cord ependymoma	http://purl.obolibrary.org/obo/DOID_5503	spinal cord ependymoma		
http://purl.obolibrary.org/obo/DOID_5635	gastric adenosquamous carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		
http://purl.obolibrary.org/obo/DOID_6270	gastric cardia carcinoma	http://purl.obolibrary.org/obo/DOID_10548	cardia cancer		
http://purl.obolibrary.org/obo/DOID_6552	gastric small cell carcinoma	http://purl.obolibrary.org/obo/DOID_5517	stomach carcinoma		
http://purl.obolibrary.org/obo/DOID_6703	gastric pylorus carcinoma	http://purl.obolibrary.org/obo/DOID_10544	pylorus cancer		
http://purl.obolibrary.org/obo/DOID_6705	gastric body carcinoma	http://purl.obolibrary.org/obo/DOID_5517	stomach carcinoma		
http://purl.obolibrary.org/obo/DOID_5908	penis verrucous carcinoma	http://purl.obolibrary.org/obo/DOID_5518	penis squamous cell carcinoma		
http://purl.obolibrary.org/obo/DOID_7047	penis basaloid carcinoma	http://purl.obolibrary.org/obo/DOID_5518	penis squamous cell carcinoma		
http://purl.obolibrary.org/obo/DOID_7958	sarcomatoid penile squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_5518	penis squamous cell carcinoma		
http://purl.obolibrary.org/obo/DOID_8009	penis mixed squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_5518	penis squamous cell carcinoma		
http://purl.obolibrary.org/obo/DOID_7173	cloacogenic carcinoma	http://purl.obolibrary.org/obo/DOID_5525	anal squamous cell carcinoma		
http://purl.obolibrary.org/obo/DOID_7174	anus basaloid carcinoma	http://purl.obolibrary.org/obo/DOID_5525	anal squamous cell carcinoma		
http://purl.obolibrary.org/obo/DOID_7175	anal Buschke-Lowenstein tumor	http://purl.obolibrary.org/obo/DOID_5525	anal squamous cell carcinoma		
http://purl.obolibrary.org/obo/DOID_6959	rectal cloacogenic carcinoma	http://purl.obolibrary.org/obo/DOID_5528	rectum squamous cell carcinoma		
http://purl.obolibrary.org/obo/DOID_7928	testis refractory cancer	http://purl.obolibrary.org/obo/DOID_5556	testicular malignant germ cell cancer		
http://purl.obolibrary.org/obo/DOID_8042	testis polyembryoma	http://purl.obolibrary.org/obo/DOID_5556	testicular malignant germ cell cancer		
http://purl.obolibrary.org/obo/DOID_4087	testicular pure germ cell tumor	http://purl.obolibrary.org/obo/DOID_5557	testicular germ cell cancer		
http://purl.obolibrary.org/obo/DOID_5556	testicular malignant germ cell cancer	http://purl.obolibrary.org/obo/DOID_5557	testicular germ cell cancer		
http://purl.obolibrary.org/obo/DOID_6082	childhood testicular germ cell tumor	http://purl.obolibrary.org/obo/DOID_5557	testicular germ cell cancer		
http://purl.obolibrary.org/obo/DOID_436	posterior mediastinum cancer	http://purl.obolibrary.org/obo/DOID_5559	mediastinal cancer		
http://purl.obolibrary.org/obo/DOID_5560	mediastinal mesenchymal tumor	http://purl.obolibrary.org/obo/DOID_5559	mediastinal cancer		
http://purl.obolibrary.org/obo/DOID_6868	mediastinal malignant lymphoma	http://purl.obolibrary.org/obo/DOID_0060058	lymphoma		
http://purl.obolibrary.org/obo/DOID_7077	malignant melanocytic peripheral nerve sheath tumor of mediastinum	http://purl.obolibrary.org/obo/DOID_1192	peripheral nervous system neoplasm		
http://purl.obolibrary.org/obo/DOID_7959	duodenal gastrinoma	http://purl.obolibrary.org/obo/DOID_10021	duodenum cancer		
http://purl.obolibrary.org/obo/DOID_5704	sclerosing liposarcoma	http://purl.obolibrary.org/obo/DOID_5690	well-differentiated liposarcoma		
http://purl.obolibrary.org/obo/DOID_5705	spindle cell liposarcoma	http://purl.obolibrary.org/obo/DOID_5690	well-differentiated liposarcoma		
http://purl.obolibrary.org/obo/DOID_8233	inflammatory liposarcoma	http://purl.obolibrary.org/obo/DOID_5690	well-differentiated liposarcoma		
http://purl.obolibrary.org/obo/DOID_6256	malignant growth hormone secreting neoplasm of pituitary	http://purl.obolibrary.org/obo/DOID_5716	hormone producing pituitary cancer		
http://purl.obolibrary.org/obo/DOID_6274	malignant thyroid stimulating hormone producing neoplasm of pituitary gland	http://purl.obolibrary.org/obo/DOID_5716	hormone producing pituitary cancer		
http://purl.obolibrary.org/obo/DOID_6276	malignant ACTH producing neoplasm of pituitary gland	http://purl.obolibrary.org/obo/DOID_5716	hormone producing pituitary cancer		
http://purl.obolibrary.org/obo/DOID_7514	Wolffian adnexal neoplasm	http://purl.obolibrary.org/obo/DOID_5727	uterine ligament cancer		
http://purl.obolibrary.org/obo/DOID_5893	childhood malignant mesenchymoma	http://purl.obolibrary.org/obo/DOID_5758	malignant mesenchymoma		
http://purl.obolibrary.org/obo/DOID_5894	adult malignant mesenchymoma	http://purl.obolibrary.org/obo/DOID_5758	malignant mesenchymoma		
http://purl.obolibrary.org/obo/DOID_2648	sebaceous adenoma	http://purl.obolibrary.org/obo/DOID_5759	sebaceous gland neoplasm		
http://purl.obolibrary.org/obo/DOID_5804	discrete subaortic stenosis	http://purl.obolibrary.org/obo/DOID_5805	subvalvular aortic stenosis		
http://purl.obolibrary.org/obo/DOID_6867	mediastinal gray zone lymphoma	http://purl.obolibrary.org/obo/DOID_6868	mediastinal malignant lymphoma		
http://purl.obolibrary.org/obo/DOID_7891	testicular spermatocytic seminoma	http://purl.obolibrary.org/obo/DOID_5842	testis seminoma		
http://purl.obolibrary.org/obo/DOID_6706	tubular variant testicular seminoma	http://purl.obolibrary.org/obo/DOID_5842	testis seminoma		
http://purl.obolibrary.org/obo/DOID_7269	cribriform variant testicular seminoma	http://purl.obolibrary.org/obo/DOID_5842	testis seminoma		
http://purl.obolibrary.org/obo/DOID_8358	pseudoglandular variant testicular seminoma	http://purl.obolibrary.org/obo/DOID_5842	testis seminoma		
http://purl.obolibrary.org/obo/DOID_5843	posteroinferior myocardial infarction	http://purl.obolibrary.org/obo/DOID_5844	myocardial infarction		
http://purl.obolibrary.org/obo/DOID_5845	anterolateral myocardial infarction	http://purl.obolibrary.org/obo/DOID_5844	myocardial infarction		
http://purl.obolibrary.org/obo/DOID_5846	septal myocardial infarction	http://purl.obolibrary.org/obo/DOID_5844	myocardial infarction		
http://purl.obolibrary.org/obo/DOID_5847	posterior myocardial infarction	http://purl.obolibrary.org/obo/DOID_5844	myocardial infarction		
http://purl.obolibrary.org/obo/DOID_5848	apical myocardial infarction	http://purl.obolibrary.org/obo/DOID_5844	myocardial infarction		
http://purl.obolibrary.org/obo/DOID_5849	subendocardial myocardial infarction	http://purl.obolibrary.org/obo/DOID_5844	myocardial infarction		
http://purl.obolibrary.org/obo/DOID_5850	inferior myocardial infarction	http://purl.obolibrary.org/obo/DOID_5844	myocardial infarction		
http://purl.obolibrary.org/obo/DOID_5851	posterolateral myocardial infarction	http://purl.obolibrary.org/obo/DOID_5844	myocardial infarction		
http://purl.obolibrary.org/obo/DOID_5852	inferolateral myocardial infarct	http://purl.obolibrary.org/obo/DOID_5844	myocardial infarction		
http://purl.obolibrary.org/obo/DOID_5853	lateral myocardial infarction	http://purl.obolibrary.org/obo/DOID_5844	myocardial infarction		
http://purl.obolibrary.org/obo/DOID_5854	silent myocardial infarction	http://purl.obolibrary.org/obo/DOID_5844	myocardial infarction		
http://purl.obolibrary.org/obo/DOID_5855	anteroseptal myocardial infarction	http://purl.obolibrary.org/obo/DOID_5844	myocardial infarction		
http://purl.obolibrary.org/obo/DOID_9767	myocardial stunning	http://purl.obolibrary.org/obo/DOID_5844	myocardial infarction		
http://purl.obolibrary.org/obo/DOID_6494	childhood myxoid chondrosarcoma	http://purl.obolibrary.org/obo/DOID_5861	myxoid chondrosarcoma		
http://purl.obolibrary.org/obo/DOID_3893	hidrocystoma	http://purl.obolibrary.org/obo/DOID_5876	apocrine sweat gland neoplasm		
http://purl.obolibrary.org/obo/DOID_3895	apocrine adenoma	http://purl.obolibrary.org/obo/DOID_5876	apocrine sweat gland neoplasm		
http://purl.obolibrary.org/obo/DOID_5444	spiradenoma	http://purl.obolibrary.org/obo/DOID_5876	apocrine sweat gland neoplasm		
http://purl.obolibrary.org/obo/DOID_5445	syringocystadenoma papilliferum	http://purl.obolibrary.org/obo/DOID_5876	apocrine sweat gland neoplasm		
http://purl.obolibrary.org/obo/DOID_7549	ceruminoma	http://purl.obolibrary.org/obo/DOID_5876	apocrine sweat gland neoplasm		
http://purl.obolibrary.org/obo/DOID_5907	penis non-invasive verrucous carcinoma	http://purl.obolibrary.org/obo/DOID_5908	penis verrucous carcinoma		
http://purl.obolibrary.org/obo/DOID_5957	bladder urachal squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		
http://purl.obolibrary.org/obo/DOID_7244	bladder urachal urothelial carcinoma	http://purl.obolibrary.org/obo/DOID_5958	bladder urachal carcinoma		
http://purl.obolibrary.org/obo/DOID_6119	renal pelvis urothelial papilloma	http://purl.obolibrary.org/obo/DOID_5975	renal pelvis papillary tumor		
http://purl.obolibrary.org/obo/DOID_5975	renal pelvis papillary tumor	http://purl.obolibrary.org/obo/DOID_5977	renal pelvis benign neoplasm		
http://purl.obolibrary.org/obo/DOID_7312	breast adenomyoepithelial adenosis	http://purl.obolibrary.org/obo/DOID_5998	microglandular adenosis		
http://purl.obolibrary.org/obo/DOID_8335	microglandular adenosis of breast	http://purl.obolibrary.org/obo/DOID_5998	microglandular adenosis		
http://purl.obolibrary.org/obo/DOID_6016	adult central nervous system mature teratoma	http://purl.obolibrary.org/obo/DOID_6017	central nervous system mature teratoma		
http://purl.obolibrary.org/obo/DOID_6018	adult central nervous system immature teratoma	http://purl.obolibrary.org/obo/DOID_6019	central nervous system immature teratoma		
http://purl.obolibrary.org/obo/DOID_6423	childhood central nervous system mature teratoma	http://purl.obolibrary.org/obo/DOID_6017	central nervous system mature teratoma		
http://purl.obolibrary.org/obo/DOID_6654	childhood central nervous system immature teratoma	http://purl.obolibrary.org/obo/DOID_6019	central nervous system immature teratoma		
http://purl.obolibrary.org/obo/DOID_6522	mixed cell uveal melanoma	http://purl.obolibrary.org/obo/DOID_6039	uveal melanoma		
http://purl.obolibrary.org/obo/DOID_6566	posterior uveal melanoma	http://purl.obolibrary.org/obo/DOID_6039	uveal melanoma		
http://purl.obolibrary.org/obo/DOID_8149	malignant childhood germ cell neoplasm	http://purl.obolibrary.org/obo/DOID_6053	childhood germ cell cancer		
http://purl.obolibrary.org/obo/DOID_606	Brown-Sequard syndrome	http://purl.obolibrary.org/obo/DOID_607	paraplegia		
http://purl.obolibrary.org/obo/DOID_6089	childhood leptomeningeal melanoma	http://purl.obolibrary.org/obo/DOID_6085	meningeal melanoma		
http://purl.obolibrary.org/obo/DOID_6090	adult leptomeningeal melanoma	http://purl.obolibrary.org/obo/DOID_6085	meningeal melanoma		
http://purl.obolibrary.org/obo/DOID_6085	meningeal melanoma	http://purl.obolibrary.org/obo/DOID_6086	malignant leptomeningeal neoplasm		
http://purl.obolibrary.org/obo/DOID_7689	leptomeninges sarcoma	http://purl.obolibrary.org/obo/DOID_1115	sarcoma		
http://purl.obolibrary.org/obo/DOID_6113	intracerebral cystic meningioma	http://purl.obolibrary.org/obo/DOID_6112	cerebral meningioma		
http://purl.obolibrary.org/obo/DOID_6114	cerebral convexity meningioma	http://purl.obolibrary.org/obo/DOID_6112	cerebral meningioma		
http://purl.obolibrary.org/obo/DOID_6869	parasagittal meningioma	http://purl.obolibrary.org/obo/DOID_6114	cerebral convexity meningioma		
http://purl.obolibrary.org/obo/DOID_8000	frontal convexity meningioma	http://purl.obolibrary.org/obo/DOID_6114	cerebral convexity meningioma		
http://purl.obolibrary.org/obo/DOID_6118	renal pelvis inverted papilloma	http://purl.obolibrary.org/obo/DOID_2615	papilloma		
http://purl.obolibrary.org/obo/DOID_6474	childhood teratocarcinoma of the testis	http://purl.obolibrary.org/obo/DOID_6161	childhood testicular mixed germ cell tumor		
http://purl.obolibrary.org/obo/DOID_6445	ovarian endometrioid malignant adenofibroma	http://purl.obolibrary.org/obo/DOID_6170	ovarian carcinosarcoma		
http://purl.obolibrary.org/obo/DOID_5046	mediastinal granular cell myoblastoma	http://purl.obolibrary.org/obo/DOID_6175	mediastinal neurilemmoma		
http://purl.obolibrary.org/obo/DOID_6988	peripheral epithelioid sarcoma	http://purl.obolibrary.org/obo/DOID_6193	epithelioid sarcoma		
http://purl.obolibrary.org/obo/DOID_7095	childhood epithelioid sarcoma	http://purl.obolibrary.org/obo/DOID_6193	epithelioid sarcoma		
http://purl.obolibrary.org/obo/DOID_7492	central epithelioid sarcoma	http://purl.obolibrary.org/obo/DOID_6193	epithelioid sarcoma		
http://purl.obolibrary.org/obo/DOID_8282	adult epithelioid sarcoma	http://purl.obolibrary.org/obo/DOID_6193	epithelioid sarcoma		
http://purl.obolibrary.org/obo/DOID_6203	thyroid hyalinizing trabecular adenoma	http://purl.obolibrary.org/obo/DOID_6204	follicular adenoma		
http://purl.obolibrary.org/obo/DOID_8102	fetal adenoma	http://purl.obolibrary.org/obo/DOID_6204	follicular adenoma		
http://purl.obolibrary.org/obo/DOID_8162	thyroid Hurthle cell adenoma	http://purl.obolibrary.org/obo/DOID_6204	follicular adenoma		
http://purl.obolibrary.org/obo/DOID_8292	atypical follicular adenoma	http://purl.obolibrary.org/obo/DOID_6204	follicular adenoma		
http://purl.obolibrary.org/obo/DOID_8419	colloid adenoma	http://purl.obolibrary.org/obo/DOID_6204	follicular adenoma		
http://purl.obolibrary.org/obo/DOID_4023	linitis plastica	http://purl.obolibrary.org/obo/DOID_6217	gastric diffuse adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_8025	gastric signet ring cell adenocarcinoma	http://purl.obolibrary.org/obo/DOID_6217	gastric diffuse adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_6244	familial renal oncocytoma	http://purl.obolibrary.org/obo/DOID_6245	renal oncocytoma		
http://purl.obolibrary.org/obo/DOID_624	transient hypogammaglobulinemia of infancy	http://purl.obolibrary.org/obo/DOID_625	transient hypogammaglobulinemia		
http://purl.obolibrary.org/obo/DOID_6258	type 1 papillary adenoma of the kidney	http://purl.obolibrary.org/obo/DOID_6257	chromophil adenoma of the kidney		
http://purl.obolibrary.org/obo/DOID_6259	type 2 papillary adenoma of the kidney	http://purl.obolibrary.org/obo/DOID_6257	chromophil adenoma of the kidney		
http://purl.obolibrary.org/obo/DOID_6294	corpus callosum lipoma	http://purl.obolibrary.org/obo/DOID_6291	cerebral hemisphere lipoma		
http://purl.obolibrary.org/obo/DOID_6344	melanotic psammomatous malignant peripheral nerve sheath tumor	http://purl.obolibrary.org/obo/DOID_6345	malignant melanocytic neoplasm of the peripheral nerve sheath		
http://purl.obolibrary.org/obo/DOID_7230	postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma	http://purl.obolibrary.org/obo/DOID_6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		
http://purl.obolibrary.org/obo/DOID_8144	pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma	http://purl.obolibrary.org/obo/DOID_6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		
http://purl.obolibrary.org/obo/DOID_6386	childhood brainstem astrocytoma	http://purl.obolibrary.org/obo/DOID_6383	childhood brain stem glioma		
http://purl.obolibrary.org/obo/DOID_8861	pulmonary subvalvular stenosis	http://purl.obolibrary.org/obo/DOID_6420	pulmonary valve stenosis		
http://purl.obolibrary.org/obo/DOID_6525	choroid mixed cell melanoma	http://purl.obolibrary.org/obo/DOID_6438	malignant choroid melanoma		
http://purl.obolibrary.org/obo/DOID_6996	intermediate cell type choroid melanoma	http://purl.obolibrary.org/obo/DOID_6992	intraocular mixed cell type melanoma		
http://purl.obolibrary.org/obo/DOID_6476	clear cell variant infiltrating bladder urothelial carcinoma	http://purl.obolibrary.org/obo/DOID_6477	invasive bladder transitional cell carcinoma		
http://purl.obolibrary.org/obo/DOID_6976	micropapillary variant infiltrating bladder urothelial carcinoma	http://purl.obolibrary.org/obo/DOID_6477	invasive bladder transitional cell carcinoma		
http://purl.obolibrary.org/obo/DOID_7553	infiltrating bladder urothelial carcinoma sarcomatoid variant	http://purl.obolibrary.org/obo/DOID_6477	invasive bladder transitional cell carcinoma		
http://purl.obolibrary.org/obo/DOID_7600	infiltrating bladder lymphoepithelioma-like carcinoma	http://purl.obolibrary.org/obo/DOID_6477	invasive bladder transitional cell carcinoma		
http://purl.obolibrary.org/obo/DOID_7967	lipid-cell variant infiltrating bladder urothelial carcinoma	http://purl.obolibrary.org/obo/DOID_6477	invasive bladder transitional cell carcinoma		
http://purl.obolibrary.org/obo/DOID_7968	plasmacytoid variant infiltrating bladder urothelial carcinoma	http://purl.obolibrary.org/obo/DOID_6477	invasive bladder transitional cell carcinoma		
http://purl.obolibrary.org/obo/DOID_7969	nested variant infiltrating bladder urothelial carcinoma	http://purl.obolibrary.org/obo/DOID_6477	invasive bladder transitional cell carcinoma		
http://purl.obolibrary.org/obo/DOID_7971	microcystic variant infiltrating bladder urothelial carcinoma	http://purl.obolibrary.org/obo/DOID_6477	invasive bladder transitional cell carcinoma		
http://purl.obolibrary.org/obo/DOID_7972	lymphoma-like variant infiltrating bladder urothelial carcinoma	http://purl.obolibrary.org/obo/DOID_6477	invasive bladder transitional cell carcinoma		
http://purl.obolibrary.org/obo/DOID_8221	upper clivus meningioma	http://purl.obolibrary.org/obo/DOID_6517	clivus meningioma		
http://purl.obolibrary.org/obo/DOID_8239	lower clivus meningioma	http://purl.obolibrary.org/obo/DOID_6517	clivus meningioma		
http://purl.obolibrary.org/obo/DOID_6997	intermediate cell type ciliary body melanoma	http://purl.obolibrary.org/obo/DOID_6992	intraocular mixed cell type melanoma		
http://purl.obolibrary.org/obo/DOID_3721	plasmacytoma	http://purl.obolibrary.org/obo/DOID_6536	plasma cell neoplasm		
http://purl.obolibrary.org/obo/DOID_7207	lung combined large cell neuroendocrine carcinoma	http://purl.obolibrary.org/obo/DOID_6658	pulmonary large cell neuroendocrine carcinoma		
http://purl.obolibrary.org/obo/DOID_6742	synchronous bilateral breast carcinoma	http://purl.obolibrary.org/obo/DOID_6741	bilateral breast cancer		
http://purl.obolibrary.org/obo/DOID_3933	anterior compartment syndrome	http://purl.obolibrary.org/obo/DOID_682	compartment syndrome		
http://purl.obolibrary.org/obo/DOID_7558	glossopharyngeal motor neuropathy	http://purl.obolibrary.org/obo/DOID_3418	glossopharyngeal nerve disease		
http://purl.obolibrary.org/obo/DOID_7559	asymmetric motor neuropathy	http://purl.obolibrary.org/obo/DOID_683	motor neuritis		
http://purl.obolibrary.org/obo/DOID_5016	hepatocellular clear cell carcinoma	http://purl.obolibrary.org/obo/DOID_684	hepatocellular carcinoma		
http://purl.obolibrary.org/obo/DOID_5022	aflatoxins-related hepatocellular carcinoma	http://purl.obolibrary.org/obo/DOID_684	hepatocellular carcinoma		
http://purl.obolibrary.org/obo/DOID_5026	sclerosing hepatic carcinoma	http://purl.obolibrary.org/obo/DOID_684	hepatocellular carcinoma		
http://purl.obolibrary.org/obo/DOID_6858	pineal region immature teratoma	http://purl.obolibrary.org/obo/DOID_6856	pineal region teratoma		
http://purl.obolibrary.org/obo/DOID_5789	mixed hepatoblastoma	http://purl.obolibrary.org/obo/DOID_687	hepatoblastoma		
http://purl.obolibrary.org/obo/DOID_5798	macrotrabecular hepatoblastoma	http://purl.obolibrary.org/obo/DOID_687	hepatoblastoma		
http://purl.obolibrary.org/obo/DOID_6871	spinal cord neuroblastoma	http://purl.obolibrary.org/obo/DOID_6872	spinal cord primitive neuroectodermal neoplasm		
http://purl.obolibrary.org/obo/DOID_8108	fibroepithelial polyp of urethra	http://purl.obolibrary.org/obo/DOID_732	urethral disease		
http://purl.obolibrary.org/obo/DOID_8170	fibroepithelial polyp of the anus	http://purl.obolibrary.org/obo/DOID_3128	anus disease		
http://purl.obolibrary.org/obo/DOID_8255	vulva fibroepithelial polyp	http://purl.obolibrary.org/obo/DOID_2059	vulvar disease		
http://purl.obolibrary.org/obo/DOID_6845	infiltrating ureter transitional cell carcinoma	http://purl.obolibrary.org/obo/DOID_6888	ureter transitional cell carcinoma		
http://purl.obolibrary.org/obo/DOID_775	intraocular lymphoma	http://purl.obolibrary.org/obo/DOID_6903	eye lymphoma		
http://purl.obolibrary.org/obo/DOID_4449	macular retinal edema	http://purl.obolibrary.org/obo/DOID_6929	retinal edema		
http://purl.obolibrary.org/obo/DOID_6935	ureter inverted papilloma	http://purl.obolibrary.org/obo/DOID_2615	papilloma		
http://purl.obolibrary.org/obo/DOID_7678	sphenoid sinus inverted papilloma	http://purl.obolibrary.org/obo/DOID_2615	papilloma		
http://purl.obolibrary.org/obo/DOID_7679	sphenoid sinus Schneiderian papilloma	http://purl.obolibrary.org/obo/DOID_6947	sphenoidal sinus benign neoplasm		
http://purl.obolibrary.org/obo/DOID_6993	iris mixed cell melanoma	http://purl.obolibrary.org/obo/DOID_6994	malignant iris melanoma		
http://purl.obolibrary.org/obo/DOID_7583	glottis verrucous carcinoma	http://purl.obolibrary.org/obo/DOID_7031	glottis squamous cell carcinoma		
http://purl.obolibrary.org/obo/DOID_4334	splenic manifestation of prolymphocytic leukemia	http://purl.obolibrary.org/obo/DOID_710	splenic manifestation of leukemia		
http://purl.obolibrary.org/obo/DOID_709	splenic manifestation of hairy cell leukemia	http://purl.obolibrary.org/obo/DOID_710	splenic manifestation of leukemia		
http://purl.obolibrary.org/obo/DOID_7936	refractory T lymphoblastic leukemia/lymphoma	http://purl.obolibrary.org/obo/DOID_712	refractory hematologic cancer		
http://purl.obolibrary.org/obo/DOID_9544	refractory plasma cell neoplasm	http://purl.obolibrary.org/obo/DOID_9538	multiple myeloma		
http://purl.obolibrary.org/obo/DOID_7236	pancreatic invasive mucinous cystadenocarcinoma	http://purl.obolibrary.org/obo/DOID_7234	mucinous cystadenocarcinoma of pancreas		
http://purl.obolibrary.org/obo/DOID_7237	pancreatic non-invasive mucinous cystadenocarcinoma	http://purl.obolibrary.org/obo/DOID_7234	mucinous cystadenocarcinoma of pancreas		
http://purl.obolibrary.org/obo/DOID_2139	paraurethral gland neoplasm	http://purl.obolibrary.org/obo/DOID_730	urethral benign neoplasm		
http://purl.obolibrary.org/obo/DOID_2140	urethral urothelial papilloma	http://purl.obolibrary.org/obo/DOID_730	urethral benign neoplasm		
http://purl.obolibrary.org/obo/DOID_5643	urethral villous adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		
http://purl.obolibrary.org/obo/DOID_8109	nephrogenic adenoma of the urethra	http://purl.obolibrary.org/obo/DOID_7334	nephrogenic adenoma		
http://purl.obolibrary.org/obo/DOID_7326	cranial pseudosarcomatous fasciitis	http://purl.obolibrary.org/obo/DOID_7327	pseudosarcomatous fibromatosis		
http://purl.obolibrary.org/obo/DOID_9603	intravascular fasciitis	http://purl.obolibrary.org/obo/DOID_7327	pseudosarcomatous fibromatosis		
http://purl.obolibrary.org/obo/DOID_7381	lymphohistiocytoid mesothelioma	http://purl.obolibrary.org/obo/DOID_7474	malignant pleural mesothelioma		
http://purl.obolibrary.org/obo/DOID_7685	pancreatic non-invasive intraductal papillary-mucinous carcinoma	http://purl.obolibrary.org/obo/DOID_7574	pancreatic intraductal papillary-colloid carcinoma		
http://purl.obolibrary.org/obo/DOID_8150	pancreatic invasive intraductal papillary-mucinous carcinoma	http://purl.obolibrary.org/obo/DOID_7574	pancreatic intraductal papillary-colloid carcinoma		
http://purl.obolibrary.org/obo/DOID_7584	subglottis verrucous carcinoma	http://purl.obolibrary.org/obo/DOID_7585	subglottis squamous cell carcinoma		
http://purl.obolibrary.org/obo/DOID_7586	supraglottis verrucous carcinoma	http://purl.obolibrary.org/obo/DOID_7587	supraglottis squamous cell carcinoma		
http://purl.obolibrary.org/obo/DOID_3377	small cell osteogenic sarcoma	http://purl.obolibrary.org/obo/DOID_7602	conventional osteosarcoma		
http://purl.obolibrary.org/obo/DOID_6951	telangiectatic osteogenic sarcoma	http://purl.obolibrary.org/obo/DOID_7602	conventional osteosarcoma		
http://purl.obolibrary.org/obo/DOID_7603	fibrosarcomatous osteosarcoma	http://purl.obolibrary.org/obo/DOID_7602	conventional osteosarcoma		
http://purl.obolibrary.org/obo/DOID_7612	childhood intracortical osteosarcoma	http://purl.obolibrary.org/obo/DOID_7602	conventional osteosarcoma		
http://purl.obolibrary.org/obo/DOID_7607	chief cell adenoma	http://purl.obolibrary.org/obo/DOID_7608	parathyroid adenoma		
http://purl.obolibrary.org/obo/DOID_7609	parathyroid transitional clear cell adenoma	http://purl.obolibrary.org/obo/DOID_7608	parathyroid adenoma		
http://purl.obolibrary.org/obo/DOID_7610	mixed cell type adenoma of parathyroid	http://purl.obolibrary.org/obo/DOID_7608	parathyroid adenoma		
http://purl.obolibrary.org/obo/DOID_7611	parathyroid oncocytic adenoma	http://purl.obolibrary.org/obo/DOID_7608	parathyroid adenoma		
http://purl.obolibrary.org/obo/DOID_7613	sarcomatosis of the meninges	http://purl.obolibrary.org/obo/DOID_7614	meninges sarcoma		
http://purl.obolibrary.org/obo/DOID_4648	familial retinoblastoma	http://purl.obolibrary.org/obo/DOID_768	retinoblastoma		
http://purl.obolibrary.org/obo/DOID_8207	hilar lung carcinoma	http://purl.obolibrary.org/obo/DOID_3905	lung carcinoma		
http://purl.obolibrary.org/obo/DOID_7765	Coats disease	http://purl.obolibrary.org/obo/DOID_7736	retinal telangiectasia		
http://purl.obolibrary.org/obo/DOID_7587	supraglottis squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		
http://purl.obolibrary.org/obo/DOID_7585	subglottis squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		
http://purl.obolibrary.org/obo/DOID_7807	choroid necrotic melanoma	http://purl.obolibrary.org/obo/DOID_12759	choroid cancer		
http://purl.obolibrary.org/obo/DOID_7105	epiglottis neoplasm	http://purl.obolibrary.org/obo/DOID_8002	supraglottis neoplasm		
http://purl.obolibrary.org/obo/DOID_8208	lung superior sulcus carcinoma	http://purl.obolibrary.org/obo/DOID_8007	Pancoast tumor		
http://purl.obolibrary.org/obo/DOID_817	interstitial myocarditis	http://purl.obolibrary.org/obo/DOID_820	myocarditis		
http://purl.obolibrary.org/obo/DOID_8481	rheumatic myocarditis	http://purl.obolibrary.org/obo/DOID_104	bacterial infectious disease		
http://purl.obolibrary.org/obo/DOID_5101	ear cancer	http://purl.obolibrary.org/obo/DOID_833	auditory system cancer		
http://purl.obolibrary.org/obo/DOID_8410	childhood kidney angiomyolipoma	http://purl.obolibrary.org/obo/DOID_8411	kidney angiomyolipoma		
http://purl.obolibrary.org/obo/DOID_8440	ileus	http://purl.obolibrary.org/obo/DOID_8437	intestinal obstruction		
http://purl.obolibrary.org/obo/DOID_8442	paralytic ileus	http://purl.obolibrary.org/obo/DOID_8437	intestinal obstruction		
http://purl.obolibrary.org/obo/DOID_8446	intussusception	http://purl.obolibrary.org/obo/DOID_8437	intestinal obstruction		
http://purl.obolibrary.org/obo/DOID_8448	intestinal impaction	http://purl.obolibrary.org/obo/DOID_8437	intestinal obstruction		
http://purl.obolibrary.org/obo/DOID_8507	juvenile dermatitis herpetiformis	http://purl.obolibrary.org/obo/DOID_8505	dermatitis herpetiformis		
http://purl.obolibrary.org/obo/DOID_8516	pulmonary embolism and infarction	http://purl.obolibrary.org/obo/DOID_8514	acute pulmonary heart disease		
http://purl.obolibrary.org/obo/DOID_8517	acute cor pulmonale	http://purl.obolibrary.org/obo/DOID_8514	acute pulmonary heart disease		
http://purl.obolibrary.org/obo/DOID_8593	chronic monocytic leukemia	http://purl.obolibrary.org/obo/DOID_8527	monocytic leukemia		
http://purl.obolibrary.org/obo/DOID_8696	subacute monocytic leukemia	http://purl.obolibrary.org/obo/DOID_8527	monocytic leukemia		
http://purl.obolibrary.org/obo/DOID_8660	postcricoid region cancer	http://purl.obolibrary.org/obo/DOID_8533	hypopharynx cancer		
http://purl.obolibrary.org/obo/DOID_8663	aryepiglottic fold cancer	http://purl.obolibrary.org/obo/DOID_8533	hypopharynx cancer		
http://purl.obolibrary.org/obo/DOID_9235	pyriform sinus cancer	http://purl.obolibrary.org/obo/DOID_8533	hypopharynx cancer		
http://purl.obolibrary.org/obo/DOID_8556	vallecula cancer	http://purl.obolibrary.org/obo/DOID_8557	oropharynx cancer		
http://purl.obolibrary.org/obo/DOID_8688	tonsillar pillar cancer	http://purl.obolibrary.org/obo/DOID_8557	oropharynx cancer		
http://purl.obolibrary.org/obo/DOID_8937	Waldeyer's ring cancer	http://purl.obolibrary.org/obo/DOID_0060073	lymphatic system cancer		
http://purl.obolibrary.org/obo/DOID_8969	tonsillar fossa cancer	http://purl.obolibrary.org/obo/DOID_8557	oropharynx cancer		
http://purl.obolibrary.org/obo/DOID_8630	upper lip cancer	http://purl.obolibrary.org/obo/DOID_8564	lip cancer		
http://purl.obolibrary.org/obo/DOID_8883	lower lip cancer	http://purl.obolibrary.org/obo/DOID_8564	lip cancer		
http://purl.obolibrary.org/obo/DOID_8543	Hodgkin's lymphoma, lymphocytic-histiocytic predominance	http://purl.obolibrary.org/obo/DOID_8567	Hodgkin's lymphoma		
http://purl.obolibrary.org/obo/DOID_8628	Hodgkin's lymphoma, lymphocytic depletion	http://purl.obolibrary.org/obo/DOID_8567	Hodgkin's lymphoma		
http://purl.obolibrary.org/obo/DOID_8642	Hodgkin's paragranuloma	http://purl.obolibrary.org/obo/DOID_8567	Hodgkin's lymphoma		
http://purl.obolibrary.org/obo/DOID_8651	Hodgkin's granuloma	http://purl.obolibrary.org/obo/DOID_8567	Hodgkin's lymphoma		
http://purl.obolibrary.org/obo/DOID_8654	Hodgkin's lymphoma, mixed cellularity	http://purl.obolibrary.org/obo/DOID_8567	Hodgkin's lymphoma		
http://purl.obolibrary.org/obo/DOID_8838	Hodgkin's lymphoma, nodular sclerosis	http://purl.obolibrary.org/obo/DOID_8567	Hodgkin's lymphoma		
http://purl.obolibrary.org/obo/DOID_8573	lichen nitidus	http://purl.obolibrary.org/obo/DOID_8574	lichen disease		
http://purl.obolibrary.org/obo/DOID_8635	uvula cancer	http://purl.obolibrary.org/obo/DOID_8578	soft palate cancer		
http://purl.obolibrary.org/obo/DOID_8601	upper gum cancer	http://purl.obolibrary.org/obo/DOID_8602	gum cancer		
http://purl.obolibrary.org/obo/DOID_9125	lower gum cancer	http://purl.obolibrary.org/obo/DOID_8602	gum cancer		
http://purl.obolibrary.org/obo/DOID_9088	parapsoriasis	http://purl.obolibrary.org/obo/DOID_8893	psoriasis		
http://purl.obolibrary.org/obo/DOID_310	MERRF syndrome	http://purl.obolibrary.org/obo/DOID_890	mitochondrial encephalomyopathy		
http://purl.obolibrary.org/obo/DOID_8931	Evans' syndrome	http://purl.obolibrary.org/obo/DOID_8925	primary thrombocytopenia		
http://purl.obolibrary.org/obo/DOID_9905	follicular mucinosis	http://purl.obolibrary.org/obo/DOID_9098	sebaceous gland disease		
http://purl.obolibrary.org/obo/DOID_4633	nasal cavity inverting papilloma	http://purl.obolibrary.org/obo/DOID_9310	nasal cavity benign neoplasm		
http://purl.obolibrary.org/obo/DOID_8512	puerperal pulmonary embolism	http://purl.obolibrary.org/obo/DOID_9477	pulmonary embolism		
http://purl.obolibrary.org/obo/DOID_9541	osteosclerotic myeloma	http://purl.obolibrary.org/obo/DOID_9538	multiple myeloma		
http://purl.obolibrary.org/obo/DOID_9547	non-secretory myeloma	http://purl.obolibrary.org/obo/DOID_9538	multiple myeloma		
http://purl.obolibrary.org/obo/DOID_7327	pseudosarcomatous fibromatosis	http://purl.obolibrary.org/obo/DOID_9598	fasciitis		
http://purl.obolibrary.org/obo/DOID_9599	proliferative fasciitis	http://purl.obolibrary.org/obo/DOID_9598	fasciitis		
http://purl.obolibrary.org/obo/DOID_9600	plantar fasciitis	http://purl.obolibrary.org/obo/DOID_9598	fasciitis		
http://purl.obolibrary.org/obo/DOID_9601	ischemic fasciitis	http://purl.obolibrary.org/obo/DOID_9598	fasciitis		
http://purl.obolibrary.org/obo/DOID_9602	necrotizing fasciitis	http://purl.obolibrary.org/obo/DOID_9598	fasciitis		
http://purl.obolibrary.org/obo/DOID_9672	noma	http://purl.obolibrary.org/obo/DOID_9673	ulcerative stomatitis		
http://purl.obolibrary.org/obo/DOID_9745	perianal hematoma	http://purl.obolibrary.org/obo/DOID_9746	hemorrhoid		
http://purl.obolibrary.org/obo/DOID_3362	coronary aneurysm	http://purl.obolibrary.org/obo/DOID_9768	heart aneurysm		
http://purl.obolibrary.org/obo/DOID_9811	partial circumpapillary choroid dystrophy	http://purl.obolibrary.org/obo/DOID_9794	hereditary choroidal atrophy		
http://purl.obolibrary.org/obo/DOID_9822	partial central choroid dystrophy	http://purl.obolibrary.org/obo/DOID_9794	hereditary choroidal atrophy		
http://purl.obolibrary.org/obo/DOID_9842	total circumpapillary dystrophy of choroid	http://purl.obolibrary.org/obo/DOID_9794	hereditary choroidal atrophy		
http://purl.obolibrary.org/obo/DOID_9776	Senile atrophy of choroid	http://purl.obolibrary.org/obo/DOID_980	choroidal sclerosis		
http://purl.obolibrary.org/obo/DOID_979	angioid streaks of choroid	http://purl.obolibrary.org/obo/DOID_8466	retinal degeneration		
http://purl.obolibrary.org/obo/DOID_9794	hereditary choroidal atrophy	http://purl.obolibrary.org/obo/DOID_980	choroidal sclerosis		
http://purl.obolibrary.org/obo/DOID_981	diffuse secondary choroid atrophy	http://purl.obolibrary.org/obo/DOID_980	choroidal sclerosis		
http://purl.obolibrary.org/obo/DOID_9820	central gyrate choroidal dystrophy	http://purl.obolibrary.org/obo/DOID_9822	partial central choroid dystrophy		
http://purl.obolibrary.org/obo/DOID_9908	internal hordeolum	http://purl.obolibrary.org/obo/DOID_9909	hordeolum		
http://purl.obolibrary.org/obo/DOID_9911	infected hydrocele	http://purl.obolibrary.org/obo/DOID_9912	hydrocele		
http://purl.obolibrary.org/obo/DOID_9936	chronic canaliculitis	http://purl.obolibrary.org/obo/DOID_9935	chronic inflammation of lacrimal passage		
http://purl.obolibrary.org/obo/DOID_9939	dacryocystocele	http://purl.obolibrary.org/obo/DOID_9935	chronic inflammation of lacrimal passage		
http://purl.obolibrary.org/obo/DOID_9948	residual stage corticosteroid-induced glaucoma	http://purl.obolibrary.org/obo/DOID_9946	steroid-induced glaucoma		
http://purl.obolibrary.org/obo/DOID_9499	disseminated eosinophilic collagen disease	http://purl.obolibrary.org/obo/DOID_854	collagen disease		
http://purl.obolibrary.org/obo/HP_0000098	Tall stature	http://purl.obolibrary.org/obo/HP_0000002	Abnormality of body height		
http://purl.obolibrary.org/obo/HP_0000130	Abnormality of the uterus	http://purl.obolibrary.org/obo/HP_0000008	Abnormal morphology of female internal genitalia		
http://purl.obolibrary.org/obo/HP_0000142	Abnormal vagina morphology	http://purl.obolibrary.org/obo/HP_0000008	Abnormal morphology of female internal genitalia		
http://purl.obolibrary.org/obo/HP_0025487	Abnormal bladder morphology	http://purl.obolibrary.org/obo/HP_0000014	Abnormality of the bladder		
http://purl.obolibrary.org/obo/HP_0008669	Abnormal spermatogenesis	http://purl.obolibrary.org/obo/HP_0000025	Functional abnormality of male internal genitalia		
http://purl.obolibrary.org/obo/HP_0000035	Abnormal testis morphology	http://purl.obolibrary.org/obo/HP_0000032	Abnormal male external genitalia morphology		
http://purl.obolibrary.org/obo/HP_0000036	Abnormal penis morphology	http://purl.obolibrary.org/obo/HP_0000032	Abnormal male external genitalia morphology		
http://purl.obolibrary.org/obo/HP_0000045	Abnormal scrotum morphology	http://purl.obolibrary.org/obo/HP_0000032	Abnormal male external genitalia morphology		
http://purl.obolibrary.org/obo/HP_0000050	Hypoplastic male external genitalia	http://purl.obolibrary.org/obo/HP_0003241	External genital hypoplasia		
http://purl.obolibrary.org/obo/HP_0000028	Cryptorchidism	http://purl.obolibrary.org/obo/HP_0000035	Abnormal testis morphology		
http://purl.obolibrary.org/obo/HP_6000085	Angulation of penis	http://purl.obolibrary.org/obo/HP_0000036	Abnormal penis morphology		
http://purl.obolibrary.org/obo/HP_0100587	Abnormal preputium morphology	http://purl.obolibrary.org/obo/HP_0000036	Abnormal penis morphology		
http://purl.obolibrary.org/obo/HP_0000056	Abnormal clitoris morphology	http://purl.obolibrary.org/obo/HP_0000055	Abnormal female external genitalia morphology		
http://purl.obolibrary.org/obo/HP_0000074	Ureteropelvic junction obstruction	http://purl.obolibrary.org/obo/HP_0000071	Ureteral stenosis		
http://purl.obolibrary.org/obo/HP_0012210	Abnormal renal morphology	http://purl.obolibrary.org/obo/HP_0000077	Abnormality of the kidney		
http://purl.obolibrary.org/obo/HP_0012211	Abnormal renal physiology	http://purl.obolibrary.org/obo/HP_0011277	Abnormality of the urinary system physiology		
http://purl.obolibrary.org/obo/HP_0000080	Abnormality of reproductive system physiology	http://purl.obolibrary.org/obo/HP_0000078	Abnormality of the genital system		
http://purl.obolibrary.org/obo/HP_0012243	Abnormal reproductive system morphology	http://purl.obolibrary.org/obo/HP_0000078	Abnormality of the genital system		
http://purl.obolibrary.org/obo/HP_0010935	Abnormality of the upper urinary tract	http://purl.obolibrary.org/obo/HP_0000079	Abnormality of the urinary system		
http://purl.obolibrary.org/obo/HP_0010936	Abnormality of the lower urinary tract	http://purl.obolibrary.org/obo/HP_0000079	Abnormality of the urinary system		
http://purl.obolibrary.org/obo/HP_0011277	Abnormality of the urinary system physiology	http://purl.obolibrary.org/obo/HP_0000079	Abnormality of the urinary system		
http://purl.obolibrary.org/obo/HP_0000125	Pelvic kidney	http://purl.obolibrary.org/obo/HP_0000086	Ectopic kidney		
http://purl.obolibrary.org/obo/HP_0001966	Abnormal glomerular mesangium morphology	http://purl.obolibrary.org/obo/HP_0000095	Abnormal renal glomerulus morphology		
http://purl.obolibrary.org/obo/HP_0000002	Abnormality of body height	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0000119	Abnormality of the genitourinary system	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0000152	Abnormality of head or neck	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0000478	Abnormality of the eye	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0000598	Abnormality of the ear	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0000769	Abnormality of the breast	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0000818	Abnormality of the endocrine system	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0001197	Abnormality of prenatal development or birth	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0001574	Abnormality of the integument	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0001626	Abnormality of the cardiovascular system	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0001871	Abnormality of blood and blood-forming tissues	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0001939	Abnormality of metabolism/homeostasis	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0002086	Abnormality of the respiratory system	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0002715	Abnormality of the immune system	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0004323	Abnormality of body weight	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0000078	Abnormality of the genital system	http://purl.obolibrary.org/obo/HP_0000119	Abnormality of the genitourinary system		
http://purl.obolibrary.org/obo/HP_0000079	Abnormality of the urinary system	http://purl.obolibrary.org/obo/HP_0000119	Abnormality of the genitourinary system		
http://purl.obolibrary.org/obo/HP_0008684	Aplasia/hypoplasia of the uterus	http://purl.obolibrary.org/obo/HP_0000130	Abnormality of the uterus		
http://purl.obolibrary.org/obo/HP_0000148	Vaginal atresia	http://purl.obolibrary.org/obo/HP_0001827	Genital tract atresia		
http://purl.obolibrary.org/obo/HP_0001153	Septate vagina	http://purl.obolibrary.org/obo/HP_0000142	Abnormal vagina morphology		
http://purl.obolibrary.org/obo/HP_0000234	Abnormality of the head	http://purl.obolibrary.org/obo/HP_0000152	Abnormality of head or neck		
http://purl.obolibrary.org/obo/HP_0000177	Abnormal upper lip morphology	http://purl.obolibrary.org/obo/HP_0000159	Abnormal lip morphology		
http://purl.obolibrary.org/obo/HP_0000233	Thin vermilion border	http://purl.obolibrary.org/obo/HP_0000159	Abnormal lip morphology		
http://purl.obolibrary.org/obo/HP_0000159	Abnormal lip morphology	http://purl.obolibrary.org/obo/HP_0000163	Abnormal oral cavity morphology		
http://purl.obolibrary.org/obo/HP_0000164	Abnormality of the dentition	http://purl.obolibrary.org/obo/HP_0000163	Abnormal oral cavity morphology		
http://purl.obolibrary.org/obo/HP_0000288	Abnormality of the philtrum	http://purl.obolibrary.org/obo/HP_0000177	Abnormal upper lip morphology		
http://purl.obolibrary.org/obo/HP_0011339	Abnormality of upper lip vermillion	http://purl.obolibrary.org/obo/HP_0000177	Abnormal upper lip morphology		
http://purl.obolibrary.org/obo/HP_0000219	Thin upper lip vermilion	http://purl.obolibrary.org/obo/HP_0011339	Abnormality of upper lip vermillion		
http://purl.obolibrary.org/obo/HP_0000929	Abnormal skull morphology	http://purl.obolibrary.org/obo/HP_0009121	Abnormal axial skeleton morphology		
http://purl.obolibrary.org/obo/HP_0001965	Abnormal scalp morphology	http://purl.obolibrary.org/obo/HP_0000234	Abnormality of the head		
http://purl.obolibrary.org/obo/HP_0011329	Abnormality of cranial sutures	http://purl.obolibrary.org/obo/HP_0000235	Abnormal cranial suture/fontanelle morphology		
http://purl.obolibrary.org/obo/HP_0009118	Aplasia/Hypoplasia of the mandible	http://purl.obolibrary.org/obo/HP_0009116	Aplasia/Hypoplasia involving bones of the skull		
http://purl.obolibrary.org/obo/HP_0000343	Long philtrum	http://purl.obolibrary.org/obo/HP_0000288	Abnormality of the philtrum		
http://purl.obolibrary.org/obo/HP_0002007	Frontal bossing	http://purl.obolibrary.org/obo/HP_0011218	Abnormal shape of the frontal region		
http://purl.obolibrary.org/obo/HP_0011452	Functional abnormality of the middle ear	http://purl.obolibrary.org/obo/HP_0000370	Abnormality of the middle ear		
http://purl.obolibrary.org/obo/HP_0012372	Abnormal eye morphology	http://purl.obolibrary.org/obo/HP_0000478	Abnormality of the eye		
http://purl.obolibrary.org/obo/HP_0012373	Abnormal eye physiology	http://purl.obolibrary.org/obo/HP_0000478	Abnormality of the eye		
http://purl.obolibrary.org/obo/HP_0000488	Retinopathy	http://purl.obolibrary.org/obo/HP_0000479	Abnormal retinal morphology		
http://purl.obolibrary.org/obo/HP_0000532	Abnormal chorioretinal morphology	http://purl.obolibrary.org/obo/HP_0000610	Abnormal choroid morphology		
http://purl.obolibrary.org/obo/HP_0001103	Abnormal macular morphology	http://purl.obolibrary.org/obo/HP_0000479	Abnormal retinal morphology		
http://purl.obolibrary.org/obo/HP_0007703	Abnormal retinal pigmentation	http://purl.obolibrary.org/obo/HP_0000479	Abnormal retinal morphology		
http://purl.obolibrary.org/obo/HP_0100691	Abnormality of the curvature of the cornea	http://purl.obolibrary.org/obo/HP_0000481	Abnormal cornea morphology		
http://purl.obolibrary.org/obo/HP_0012547	Abnormal involuntary eye movements	http://purl.obolibrary.org/obo/HP_0000496	Abnormality of eye movement		
http://purl.obolibrary.org/obo/HP_0000505	Visual impairment	http://purl.obolibrary.org/obo/HP_0000504	Abnormality of vision		
http://purl.obolibrary.org/obo/HP_0000612	Iris coloboma	http://purl.obolibrary.org/obo/HP_0000589	Coloboma		
http://purl.obolibrary.org/obo/HP_0007858	Chorioretinal lacunae	http://purl.obolibrary.org/obo/HP_0000532	Abnormal chorioretinal morphology		
http://purl.obolibrary.org/obo/HP_0000525	Abnormality iris morphology	http://purl.obolibrary.org/obo/HP_0004328	Abnormal anterior eye segment morphology		
http://purl.obolibrary.org/obo/HP_0000610	Abnormal choroid morphology	http://purl.obolibrary.org/obo/HP_0001098	Abnormal fundus morphology		
http://purl.obolibrary.org/obo/HP_0008055	Aplasia/Hypoplasia affecting the uvea	http://purl.obolibrary.org/obo/HP_0012372	Abnormal eye morphology		
http://purl.obolibrary.org/obo/HP_0008058	Aplasia/Hypoplasia of the optic nerve	http://purl.obolibrary.org/obo/HP_0008057	Aplasia/Hypoplasia affecting the fundus		
http://purl.obolibrary.org/obo/HP_0000588	Optic disc coloboma	http://purl.obolibrary.org/obo/HP_0012795	Abnormal optic disc morphology		
http://purl.obolibrary.org/obo/HP_0031703	Abnormal ear morphology	http://purl.obolibrary.org/obo/HP_0000598	Abnormality of the ear		
http://purl.obolibrary.org/obo/HP_0031704	Abnormal ear physiology	http://purl.obolibrary.org/obo/HP_0000598	Abnormality of the ear		
http://purl.obolibrary.org/obo/HP_0003130	Abnormal peripheral myelination	http://purl.obolibrary.org/obo/HP_0012447	Abnormal myelination		
http://purl.obolibrary.org/obo/HP_0000766	Abnormal sternum morphology	http://purl.obolibrary.org/obo/HP_0000765	Abnormal thorax morphology		
http://purl.obolibrary.org/obo/HP_0001547	Abnormal rib cage morphology	http://purl.obolibrary.org/obo/HP_0000765	Abnormal thorax morphology		
http://purl.obolibrary.org/obo/HP_0005257	Thoracic hypoplasia	http://purl.obolibrary.org/obo/HP_0000765	Abnormal thorax morphology		
http://purl.obolibrary.org/obo/HP_0006712	Aplasia/Hypoplasia of the ribs	http://purl.obolibrary.org/obo/HP_0006711	Aplasia/Hypoplasia involving bones of the thorax		
http://purl.obolibrary.org/obo/HP_0000068	Urethral atresia	http://purl.obolibrary.org/obo/HP_0000795	Abnormality of the urethra		
http://purl.obolibrary.org/obo/HP_0000796	Urethral obstruction	http://purl.obolibrary.org/obo/HP_0000795	Abnormality of the urethra		
http://purl.obolibrary.org/obo/HP_0100627	Displacement of the urethral meatus	http://purl.obolibrary.org/obo/HP_0032076	Abnormal male urethral meatus morphology		
http://purl.obolibrary.org/obo/HP_0000032	Abnormal male external genitalia morphology	http://purl.obolibrary.org/obo/HP_0010461	Abnormality of the male genitalia		
http://purl.obolibrary.org/obo/HP_0000055	Abnormal female external genitalia morphology	http://purl.obolibrary.org/obo/HP_0010460	Abnormality of the female genitalia		
http://purl.obolibrary.org/obo/HP_0003241	External genital hypoplasia	http://purl.obolibrary.org/obo/HP_0000811	Abnormal external genitalia morphology		
http://purl.obolibrary.org/obo/HP_0000008	Abnormal morphology of female internal genitalia	http://purl.obolibrary.org/obo/HP_0010460	Abnormality of the female genitalia		
http://purl.obolibrary.org/obo/HP_0000820	Abnormality of the thyroid gland	http://purl.obolibrary.org/obo/HP_0000818	Abnormality of the endocrine system		
http://purl.obolibrary.org/obo/HP_0000828	Abnormality of the parathyroid gland	http://purl.obolibrary.org/obo/HP_0000818	Abnormality of the endocrine system		
http://purl.obolibrary.org/obo/HP_0011772	Abnormal thyroid morphology	http://purl.obolibrary.org/obo/HP_0000820	Abnormality of the thyroid gland		
http://purl.obolibrary.org/obo/HP_0011767	Abnormality of the parathyroid physiology	http://purl.obolibrary.org/obo/HP_0000828	Abnormality of the parathyroid gland		
http://purl.obolibrary.org/obo/HP_0003468	Abnormal vertebral morphology	http://purl.obolibrary.org/obo/HP_0000925	Abnormality of the vertebral column		
http://purl.obolibrary.org/obo/HP_0010674	Abnormal curvature of the vertebral column	http://purl.obolibrary.org/obo/HP_0000925	Abnormality of the vertebral column		
http://purl.obolibrary.org/obo/HP_0002750	Delayed skeletal maturation	http://purl.obolibrary.org/obo/HP_0000927	Abnormality of skeletal maturation		
http://purl.obolibrary.org/obo/HP_0000235	Abnormal cranial suture/fontanelle morphology	http://purl.obolibrary.org/obo/HP_0000929	Abnormal skull morphology		
http://purl.obolibrary.org/obo/HP_0000240	Abnormality of skull size	http://purl.obolibrary.org/obo/HP_0000929	Abnormal skull morphology		
http://purl.obolibrary.org/obo/HP_0000264	Abnormal mastoid morphology	http://purl.obolibrary.org/obo/HP_0000929	Abnormal skull morphology		
http://purl.obolibrary.org/obo/HP_0002683	Abnormal calvaria morphology	http://purl.obolibrary.org/obo/HP_0000929	Abnormal skull morphology		
http://purl.obolibrary.org/obo/HP_0011821	Abnormal facial skeleton morphology	http://purl.obolibrary.org/obo/HP_0000929	Abnormal skull morphology		
http://purl.obolibrary.org/obo/HP_0006487	Bowing of the long bones	http://purl.obolibrary.org/obo/HP_0000940	Abnormal diaphysis morphology		
http://purl.obolibrary.org/obo/HP_0011121	Abnormal skin morphology	http://purl.obolibrary.org/obo/HP_0000951	Abnormality of the skin		
http://purl.obolibrary.org/obo/HP_0011122	Abnormality of skin physiology	http://purl.obolibrary.org/obo/HP_0000951	Abnormality of the skin		
http://purl.obolibrary.org/obo/HP_0001075	Atrophic scars	http://purl.obolibrary.org/obo/HP_0004334	Dermal atrophy		
http://purl.obolibrary.org/obo/HP_0007513	Generalized hypopigmentation	http://purl.obolibrary.org/obo/HP_0001010	Hypopigmentation of the skin		
http://purl.obolibrary.org/obo/HP_0011368	Epidermal thickening	http://purl.obolibrary.org/obo/HP_0001072	Thickened skin		
http://purl.obolibrary.org/obo/HP_0000479	Abnormal retinal morphology	http://purl.obolibrary.org/obo/HP_0001098	Abnormal fundus morphology		
http://purl.obolibrary.org/obo/HP_0000587	Abnormal optic nerve morphology	http://purl.obolibrary.org/obo/HP_0001098	Abnormal fundus morphology		
http://purl.obolibrary.org/obo/HP_0008057	Aplasia/Hypoplasia affecting the fundus	http://purl.obolibrary.org/obo/HP_0012372	Abnormal eye morphology		
http://purl.obolibrary.org/obo/HP_0100871	Abnormal palm morphology	http://purl.obolibrary.org/obo/HP_0001155	Abnormality of the hand		
http://purl.obolibrary.org/obo/HP_0001272	Cerebellar atrophy	http://purl.obolibrary.org/obo/HP_0001317	Abnormal cerebellum morphology		
http://purl.obolibrary.org/obo/HP_0002334	Abnormal cerebellar vermis morphology	http://purl.obolibrary.org/obo/HP_0001317	Abnormal cerebellum morphology		
http://purl.obolibrary.org/obo/HP_0007360	Aplasia/Hypoplasia of the cerebellum	http://purl.obolibrary.org/obo/HP_0002977	Aplasia/Hypoplasia involving the central nervous system		
http://purl.obolibrary.org/obo/HP_0100491	Abnormality of lower limb joint	http://purl.obolibrary.org/obo/HP_0002814	Abnormality of the lower limb		
http://purl.obolibrary.org/obo/HP_0410042	Abnormal liver morphology	http://purl.obolibrary.org/obo/HP_0001392	Abnormality of the liver		
http://purl.obolibrary.org/obo/HP_0004297	Abnormality of the biliary system	http://purl.obolibrary.org/obo/HP_0001392	Abnormality of the liver		
http://purl.obolibrary.org/obo/HP_0000772	Abnormal rib morphology	http://purl.obolibrary.org/obo/HP_0001547	Abnormal rib cage morphology		
http://purl.obolibrary.org/obo/HP_0000951	Abnormality of the skin	http://purl.obolibrary.org/obo/HP_0001574	Abnormality of the integument		
http://purl.obolibrary.org/obo/HP_0011138	Abnormal skin adnexa morphology	http://purl.obolibrary.org/obo/HP_0001574	Abnormality of the integument		
http://purl.obolibrary.org/obo/HP_0009887	Abnormality of hair pigmentation	http://purl.obolibrary.org/obo/HP_0001595	Abnormal hair morphology		
http://purl.obolibrary.org/obo/HP_0011362	Abnormal hair quantity	http://purl.obolibrary.org/obo/HP_0001595	Abnormal hair morphology		
http://purl.obolibrary.org/obo/HP_0100037	Abnormality of the scalp hair	http://purl.obolibrary.org/obo/HP_0001965	Abnormal scalp morphology		
http://purl.obolibrary.org/obo/HP_0002597	Abnormality of the vasculature	http://purl.obolibrary.org/obo/HP_0001626	Abnormality of the cardiovascular system		
http://purl.obolibrary.org/obo/HP_0011025	Abnormal cardiovascular system physiology	http://purl.obolibrary.org/obo/HP_0001626	Abnormality of the cardiovascular system		
http://purl.obolibrary.org/obo/HP_0001697	Abnormal pericardium morphology	http://purl.obolibrary.org/obo/HP_0001627	Abnormal heart morphology		
http://purl.obolibrary.org/obo/HP_0004306	Abnormal endocardium morphology	http://purl.obolibrary.org/obo/HP_0001627	Abnormal heart morphology		
http://purl.obolibrary.org/obo/HP_0005132	Pericardial constriction	http://purl.obolibrary.org/obo/HP_0001697	Abnormal pericardium morphology		
http://purl.obolibrary.org/obo/HP_0005656	Positional foot deformity	http://purl.obolibrary.org/obo/HP_0001760	Abnormal foot morphology		
http://purl.obolibrary.org/obo/HP_0100872	Abnormality of the plantar skin of foot	http://purl.obolibrary.org/obo/HP_0011356	Regional abnormality of skin		
http://purl.obolibrary.org/obo/HP_0001872	Abnormality of thrombocytes	http://purl.obolibrary.org/obo/HP_0001871	Abnormality of blood and blood-forming tissues		
http://purl.obolibrary.org/obo/HP_0001881	Abnormal leukocyte morphology	http://purl.obolibrary.org/obo/HP_0010987	Abnormal cellular immune system morphology		
http://purl.obolibrary.org/obo/HP_0001928	Abnormality of coagulation	http://purl.obolibrary.org/obo/HP_0001871	Abnormality of blood and blood-forming tissues		
http://purl.obolibrary.org/obo/HP_0010974	Abnormal myeloid leukocyte morphology	http://purl.obolibrary.org/obo/HP_0001881	Abnormal leukocyte morphology		
http://purl.obolibrary.org/obo/HP_0011893	Abnormal leukocyte count	http://purl.obolibrary.org/obo/HP_0001881	Abnormal leukocyte morphology		
http://purl.obolibrary.org/obo/HP_0001879	Abnormal eosinophil morphology	http://purl.obolibrary.org/obo/HP_0001911	Abnormal granulocyte morphology		
http://purl.obolibrary.org/obo/HP_0003256	Abnormality of the coagulation cascade	http://purl.obolibrary.org/obo/HP_0001928	Abnormality of coagulation		
http://purl.obolibrary.org/obo/HP_0003110	Abnormality of urine homeostasis	http://purl.obolibrary.org/obo/HP_0011277	Abnormality of the urinary system physiology		
http://purl.obolibrary.org/obo/HP_0011017	Abnormal cellular physiology	http://purl.obolibrary.org/obo/HP_0025354	Abnormal cellular phenotype		
http://purl.obolibrary.org/obo/HP_0001967	Diffuse mesangial sclerosis	http://purl.obolibrary.org/obo/HP_0001966	Abnormal glomerular mesangium morphology		
http://purl.obolibrary.org/obo/HP_0000274	Small face	http://purl.obolibrary.org/obo/HP_0001999	Abnormal facial shape		
http://purl.obolibrary.org/obo/HP_0000280	Coarse facial features	http://purl.obolibrary.org/obo/HP_0001999	Abnormal facial shape		
http://purl.obolibrary.org/obo/HP_0000321	Square face	http://purl.obolibrary.org/obo/HP_0001999	Abnormal facial shape		
http://purl.obolibrary.org/obo/HP_0002143	Abnormal spinal cord morphology	http://purl.obolibrary.org/obo/HP_0002011	Morphological central nervous system abnormality		
http://purl.obolibrary.org/obo/HP_0002977	Aplasia/Hypoplasia involving the central nervous system	http://purl.obolibrary.org/obo/HP_0002011	Morphological central nervous system abnormality		
http://purl.obolibrary.org/obo/HP_0007367	Atrophy/Degeneration affecting the central nervous system	http://purl.obolibrary.org/obo/HP_0002011	Morphological central nervous system abnormality		
http://purl.obolibrary.org/obo/HP_0012443	Abnormal brain morphology	http://purl.obolibrary.org/obo/HP_0002011	Morphological central nervous system abnormality		
http://purl.obolibrary.org/obo/HP_0001392	Abnormality of the liver	http://purl.obolibrary.org/obo/HP_0002012	Abnormality of the abdominal organs		
http://purl.obolibrary.org/obo/HP_0007364	Aplasia/Hypoplasia of the cerebrum	http://purl.obolibrary.org/obo/HP_0002977	Aplasia/Hypoplasia involving the central nervous system		
http://purl.obolibrary.org/obo/HP_0007369	Atrophy/Degeneration affecting the cerebrum	http://purl.obolibrary.org/obo/HP_0012444	Brain atrophy		
http://purl.obolibrary.org/obo/HP_0010993	Abnormal cerebral subcortex morphology	http://purl.obolibrary.org/obo/HP_0002060	Abnormal cerebral morphology		
http://purl.obolibrary.org/obo/HP_0002795	Abnormal respiratory system physiology	http://purl.obolibrary.org/obo/HP_0002086	Abnormality of the respiratory system		
http://purl.obolibrary.org/obo/HP_0012252	Abnormal respiratory system morphology	http://purl.obolibrary.org/obo/HP_0002086	Abnormality of the respiratory system		
http://purl.obolibrary.org/obo/HP_0002103	Abnormal pleura morphology	http://purl.obolibrary.org/obo/HP_0002088	Abnormal lung morphology		
http://purl.obolibrary.org/obo/HP_0003133	Abnormal spinocerebellar tract morphology	http://purl.obolibrary.org/obo/HP_0002143	Abnormal spinal cord morphology		
http://purl.obolibrary.org/obo/HP_0006817	Aplasia/Hypoplasia of the cerebellar vermis	http://purl.obolibrary.org/obo/HP_0007360	Aplasia/Hypoplasia of the cerebellum		
http://purl.obolibrary.org/obo/HP_0001257	Spasticity	http://purl.obolibrary.org/obo/HP_0003808	Abnormal muscle tone		
http://purl.obolibrary.org/obo/HP_0001273	Abnormal corpus callosum morphology	http://purl.obolibrary.org/obo/HP_0002500	Abnormal cerebral white matter morphology		
http://purl.obolibrary.org/obo/HP_0011276	Vascular skin abnormality	http://purl.obolibrary.org/obo/HP_0011354	Generalized abnormality of skin		
http://purl.obolibrary.org/obo/HP_0100763	Abnormality of the lymphatic system	http://purl.obolibrary.org/obo/HP_0002715	Abnormality of the immune system		
http://purl.obolibrary.org/obo/HP_0010978	Abnormality of immune system physiology	http://purl.obolibrary.org/obo/HP_0002715	Abnormality of the immune system		
http://purl.obolibrary.org/obo/HP_0002793	Abnormal pattern of respiration	http://purl.obolibrary.org/obo/HP_0002795	Abnormal respiratory system physiology		
http://purl.obolibrary.org/obo/HP_0000940	Abnormal diaphysis morphology	http://purl.obolibrary.org/obo/HP_0011314	Abnormal long bone morphology		
http://purl.obolibrary.org/obo/HP_0000944	Abnormal metaphysis morphology	http://purl.obolibrary.org/obo/HP_0011314	Abnormal long bone morphology		
http://purl.obolibrary.org/obo/HP_0011297	Abnormal digit morphology	http://purl.obolibrary.org/obo/HP_0002813	Abnormal limb bone morphology		
http://purl.obolibrary.org/obo/HP_0001760	Abnormal foot morphology	http://purl.obolibrary.org/obo/HP_0002814	Abnormality of the lower limb		
http://purl.obolibrary.org/obo/HP_0002981	Abnormality of the calf	http://purl.obolibrary.org/obo/HP_0002814	Abnormality of the lower limb		
http://purl.obolibrary.org/obo/HP_0001155	Abnormality of the hand	http://purl.obolibrary.org/obo/HP_0002817	Abnormality of the upper limb		
http://purl.obolibrary.org/obo/HP_0003366	Abnormal femoral neck/head morphology	http://purl.obolibrary.org/obo/HP_0002823	Abnormal femur morphology		
http://purl.obolibrary.org/obo/HP_0000609	Optic nerve hypoplasia	http://purl.obolibrary.org/obo/HP_0008058	Aplasia/Hypoplasia of the optic nerve		
http://purl.obolibrary.org/obo/HP_0002979	Bowing of the legs	http://purl.obolibrary.org/obo/HP_0006487	Bowing of the long bones		
http://purl.obolibrary.org/obo/HP_0011804	Abnormal muscle physiology	http://purl.obolibrary.org/obo/HP_0003011	Abnormality of the musculature		
http://purl.obolibrary.org/obo/HP_0011805	Abnormal skeletal muscle morphology	http://purl.obolibrary.org/obo/HP_0003011	Abnormality of the musculature		
http://purl.obolibrary.org/obo/HP_0034937	Elevated circulating desmosterol concentration	http://purl.obolibrary.org/obo/HP_0003107	Abnormal circulating cholesterol concentration		
http://purl.obolibrary.org/obo/HP_0003107	Abnormal circulating cholesterol concentration	http://purl.obolibrary.org/obo/HP_0003119	Abnormal circulating lipid concentration		
http://purl.obolibrary.org/obo/HP_0010989	Abnormality of the intrinsic pathway	http://purl.obolibrary.org/obo/HP_0003256	Abnormality of the coagulation cascade		
http://purl.obolibrary.org/obo/HP_0002797	Osteolysis	http://purl.obolibrary.org/obo/HP_0003330	Abnormal bone structure		
http://purl.obolibrary.org/obo/HP_0011849	Abnormal bone ossification	http://purl.obolibrary.org/obo/HP_0003330	Abnormal bone structure		
http://purl.obolibrary.org/obo/HP_0003367	Abnormal femoral neck morphology	http://purl.obolibrary.org/obo/HP_0003366	Abnormal femoral neck/head morphology		
http://purl.obolibrary.org/obo/HP_0003312	Abnormal form of the vertebral bodies	http://purl.obolibrary.org/obo/HP_0003468	Abnormal vertebral morphology		
http://purl.obolibrary.org/obo/HP_0010866	Abdominal wall defect	http://purl.obolibrary.org/obo/HP_0004298	Abnormal abdominal wall morphology		
http://purl.obolibrary.org/obo/HP_0001336	Myoclonus	http://purl.obolibrary.org/obo/HP_0004305	Involuntary movements		
http://purl.obolibrary.org/obo/HP_0006685	Endocardial fibrosis	http://purl.obolibrary.org/obo/HP_0004306	Abnormal endocardium morphology		
http://purl.obolibrary.org/obo/HP_0004324	Increased body weight	http://purl.obolibrary.org/obo/HP_0004323	Abnormality of body weight		
http://purl.obolibrary.org/obo/HP_0004325	Decreased body weight	http://purl.obolibrary.org/obo/HP_0004323	Abnormality of body weight		
http://purl.obolibrary.org/obo/HP_0000481	Abnormal cornea morphology	http://purl.obolibrary.org/obo/HP_0004328	Abnormal anterior eye segment morphology		
http://purl.obolibrary.org/obo/HP_0000517	Abnormal lens morphology	http://purl.obolibrary.org/obo/HP_0004328	Abnormal anterior eye segment morphology		
http://purl.obolibrary.org/obo/HP_0007700	Ocular anterior segment dysgenesis	http://purl.obolibrary.org/obo/HP_0004328	Abnormal anterior eye segment morphology		
http://purl.obolibrary.org/obo/HP_0001098	Abnormal fundus morphology	http://purl.obolibrary.org/obo/HP_0004329	Abnormal posterior eye segment morphology		
http://purl.obolibrary.org/obo/HP_0003112	Abnormal circulating amino acid concentration	http://purl.obolibrary.org/obo/HP_0004354	Abnormal circulating carboxylic acid concentration		
http://purl.obolibrary.org/obo/HP_0010995	Abnormal circulating dicarboxylic acid concentration	http://purl.obolibrary.org/obo/HP_0004354	Abnormal circulating carboxylic acid concentration		
http://purl.obolibrary.org/obo/HP_0002157	Azotemia	http://purl.obolibrary.org/obo/HP_0004364	Abnormal circulating nitrogen compound concentration		
http://purl.obolibrary.org/obo/HP_0010932	Abnormal circulating nucleobase concentration	http://purl.obolibrary.org/obo/HP_0004364	Abnormal circulating nitrogen compound concentration		
http://purl.obolibrary.org/obo/HP_0001883	Talipes	http://purl.obolibrary.org/obo/HP_0005656	Positional foot deformity		
http://purl.obolibrary.org/obo/HP_0000071	Ureteral stenosis	http://purl.obolibrary.org/obo/HP_0006000	Ureteral obstruction		
http://purl.obolibrary.org/obo/HP_0000773	Short ribs	http://purl.obolibrary.org/obo/HP_0006712	Aplasia/Hypoplasia of the ribs		
http://purl.obolibrary.org/obo/HP_0007370	Aplasia/Hypoplasia of the corpus callosum	http://purl.obolibrary.org/obo/HP_0033725	Thin corpus callosum		
http://purl.obolibrary.org/obo/HP_0011813	Increased cerebral lipofuscin	http://purl.obolibrary.org/obo/HP_0007367	Atrophy/Degeneration affecting the central nervous system		
http://purl.obolibrary.org/obo/HP_0012444	Brain atrophy	http://purl.obolibrary.org/obo/HP_0012443	Abnormal brain morphology		
http://purl.obolibrary.org/obo/HP_0001274	Agenesis of corpus callosum	http://purl.obolibrary.org/obo/HP_0007370	Aplasia/Hypoplasia of the corpus callosum		
http://purl.obolibrary.org/obo/HP_0000580	Pigmentary retinopathy	http://purl.obolibrary.org/obo/HP_0007703	Abnormal retinal pigmentation		
http://purl.obolibrary.org/obo/HP_0004334	Dermal atrophy	http://purl.obolibrary.org/obo/HP_0008065	Aplasia/Hypoplasia of the skin		
http://purl.obolibrary.org/obo/HP_0000974	Hyperextensible skin	http://purl.obolibrary.org/obo/HP_0008067	Abnormally lax or hyperextensible skin		
http://purl.obolibrary.org/obo/HP_0000013	Hypoplasia of the uterus	http://purl.obolibrary.org/obo/HP_0008684	Aplasia/hypoplasia of the uterus		
http://purl.obolibrary.org/obo/HP_0000765	Abnormal thorax morphology	http://purl.obolibrary.org/obo/HP_0009121	Abnormal axial skeleton morphology		
http://purl.obolibrary.org/obo/HP_0000925	Abnormality of the vertebral column	http://purl.obolibrary.org/obo/HP_0009121	Abnormal axial skeleton morphology		
http://purl.obolibrary.org/obo/HP_0008905	Rhizomelia	http://purl.obolibrary.org/obo/HP_0008873	Disproportionate short-limb short stature		
http://purl.obolibrary.org/obo/HP_0005599	Hypopigmentation of hair	http://purl.obolibrary.org/obo/HP_0009887	Abnormality of hair pigmentation		
http://purl.obolibrary.org/obo/HP_0008067	Abnormally lax or hyperextensible skin	http://purl.obolibrary.org/obo/HP_0010647	Abnormal elasticity of skin		
http://purl.obolibrary.org/obo/HP_0000069	Abnormality of the ureter	http://purl.obolibrary.org/obo/HP_0010935	Abnormality of the upper urinary tract		
http://purl.obolibrary.org/obo/HP_0000077	Abnormality of the kidney	http://purl.obolibrary.org/obo/HP_0010935	Abnormality of the upper urinary tract		
http://purl.obolibrary.org/obo/HP_0000014	Abnormality of the bladder	http://purl.obolibrary.org/obo/HP_0010936	Abnormality of the lower urinary tract		
http://purl.obolibrary.org/obo/HP_0000795	Abnormality of the urethra	http://purl.obolibrary.org/obo/HP_0010936	Abnormality of the lower urinary tract		
http://purl.obolibrary.org/obo/HP_0000126	Hydronephrosis	http://purl.obolibrary.org/obo/HP_0010946	Dilatation of the renal pelvis		
http://purl.obolibrary.org/obo/HP_0001911	Abnormal granulocyte morphology	http://purl.obolibrary.org/obo/HP_0010974	Abnormal myeloid leukocyte morphology		
http://purl.obolibrary.org/obo/HP_0002500	Abnormal cerebral white matter morphology	http://purl.obolibrary.org/obo/HP_0010993	Abnormal cerebral subcortex morphology		
http://purl.obolibrary.org/obo/HP_0001952	Glucose intolerance	http://purl.obolibrary.org/obo/HP_0011014	Abnormal glucose homeostasis		
http://purl.obolibrary.org/obo/HP_0011015	Abnormal blood glucose concentration	http://purl.obolibrary.org/obo/HP_0011014	Abnormal glucose homeostasis		
http://purl.obolibrary.org/obo/HP_0031409	Abnormal lymphocyte physiology	http://purl.obolibrary.org/obo/HP_0033796	Abnormal leukocyte physiology		
http://purl.obolibrary.org/obo/HP_0000987	Atypical scarring of skin	http://purl.obolibrary.org/obo/HP_0100699	Scarring		
http://purl.obolibrary.org/obo/HP_0001072	Thickened skin	http://purl.obolibrary.org/obo/HP_0011121	Abnormal skin morphology		
http://purl.obolibrary.org/obo/HP_0008065	Aplasia/Hypoplasia of the skin	http://purl.obolibrary.org/obo/HP_0011121	Abnormal skin morphology		
http://purl.obolibrary.org/obo/HP_0010647	Abnormal elasticity of skin	http://purl.obolibrary.org/obo/HP_0011121	Abnormal skin morphology		
http://purl.obolibrary.org/obo/HP_0011354	Generalized abnormality of skin	http://purl.obolibrary.org/obo/HP_0011121	Abnormal skin morphology		
http://purl.obolibrary.org/obo/HP_0011356	Regional abnormality of skin	http://purl.obolibrary.org/obo/HP_0011121	Abnormal skin morphology		
http://purl.obolibrary.org/obo/HP_0001595	Abnormal hair morphology	http://purl.obolibrary.org/obo/HP_0011138	Abnormal skin adnexa morphology		
http://purl.obolibrary.org/obo/HP_0001597	Abnormal nail morphology	http://purl.obolibrary.org/obo/HP_0011138	Abnormal skin adnexa morphology		
http://purl.obolibrary.org/obo/HP_0001317	Abnormal cerebellum morphology	http://purl.obolibrary.org/obo/HP_0011283	Abnormal metencephalon morphology		
http://purl.obolibrary.org/obo/HP_0007495	Prematurely aged appearance	http://purl.obolibrary.org/obo/HP_0011354	Generalized abnormality of skin		
http://purl.obolibrary.org/obo/HP_0011443	Abnormality of coordination	http://purl.obolibrary.org/obo/HP_0011442	Abnormal central motor function		
http://purl.obolibrary.org/obo/HP_0002493	Upper motor neuron dysfunction	http://purl.obolibrary.org/obo/HP_0011442	Abnormal central motor function		
http://purl.obolibrary.org/obo/HP_0004305	Involuntary movements	http://purl.obolibrary.org/obo/HP_0100022	Abnormality of movement		
http://purl.obolibrary.org/obo/HP_0004372	Reduced consciousness	http://purl.obolibrary.org/obo/HP_0011446	Abnormality of mental function		
http://purl.obolibrary.org/obo/HP_0100543	Cognitive impairment	http://purl.obolibrary.org/obo/HP_0011446	Abnormality of mental function		
http://purl.obolibrary.org/obo/HP_0001382	Joint hypermobility	http://purl.obolibrary.org/obo/HP_0011729	Abnormality of joint mobility		
http://purl.obolibrary.org/obo/HP_0003808	Abnormal muscle tone	http://purl.obolibrary.org/obo/HP_0011804	Abnormal muscle physiology		
http://purl.obolibrary.org/obo/HP_0002074	Increased neuronal autofluorescent lipopigment	http://purl.obolibrary.org/obo/HP_0011813	Increased cerebral lipofuscin		
http://purl.obolibrary.org/obo/HP_0001367	Abnormal joint morphology	http://purl.obolibrary.org/obo/HP_0011842	Abnormal skeletal morphology		
http://purl.obolibrary.org/obo/HP_0002652	Skeletal dysplasia	http://purl.obolibrary.org/obo/HP_0011842	Abnormal skeletal morphology		
http://purl.obolibrary.org/obo/HP_0003330	Abnormal bone structure	http://purl.obolibrary.org/obo/HP_0011842	Abnormal skeletal morphology		
http://purl.obolibrary.org/obo/HP_0009121	Abnormal axial skeleton morphology	http://purl.obolibrary.org/obo/HP_0011842	Abnormal skeletal morphology		
http://purl.obolibrary.org/obo/HP_0011844	Abnormal appendicular skeleton morphology	http://purl.obolibrary.org/obo/HP_0011842	Abnormal skeletal morphology		
http://purl.obolibrary.org/obo/HP_0034430	Abnormal joint physiology	http://purl.obolibrary.org/obo/HP_0011843	Abnormal musculoskeletal physiology		
http://purl.obolibrary.org/obo/HP_0000927	Abnormality of skeletal maturation	http://purl.obolibrary.org/obo/HP_0011843	Abnormal musculoskeletal physiology		
http://purl.obolibrary.org/obo/HP_0002813	Abnormal limb bone morphology	http://purl.obolibrary.org/obo/HP_0040068	Abnormality of limb bone		
http://purl.obolibrary.org/obo/HP_0011314	Abnormal long bone morphology	http://purl.obolibrary.org/obo/HP_0011844	Abnormal appendicular skeleton morphology		
http://purl.obolibrary.org/obo/HP_0000075	Renal duplication	http://purl.obolibrary.org/obo/HP_0005217	Abdominal organ duplication		
http://purl.obolibrary.org/obo/HP_0000107	Renal cyst	http://purl.obolibrary.org/obo/HP_0012210	Abnormal renal morphology		
http://purl.obolibrary.org/obo/HP_0004742	Abnormal renal collecting system morphology	http://purl.obolibrary.org/obo/HP_0012210	Abnormal renal morphology		
http://purl.obolibrary.org/obo/HP_0011035	Abnormal renal cortex morphology	http://purl.obolibrary.org/obo/HP_0012210	Abnormal renal morphology		
http://purl.obolibrary.org/obo/HP_0012575	Abnormal nephron morphology	http://purl.obolibrary.org/obo/HP_0012210	Abnormal renal morphology		
http://purl.obolibrary.org/obo/HP_0012585	Renal atrophy	http://purl.obolibrary.org/obo/HP_0012210	Abnormal renal morphology		
http://purl.obolibrary.org/obo/HP_0100542	Abnormal localization of kidney	http://purl.obolibrary.org/obo/HP_0012210	Abnormal renal morphology		
http://purl.obolibrary.org/obo/HP_0100957	Abnormal renal medulla morphology	http://purl.obolibrary.org/obo/HP_0012210	Abnormal renal morphology		
http://purl.obolibrary.org/obo/HP_0000811	Abnormal external genitalia morphology	http://purl.obolibrary.org/obo/HP_0012243	Abnormal reproductive system morphology		
http://purl.obolibrary.org/obo/HP_0000812	Abnormal internal genitalia	http://purl.obolibrary.org/obo/HP_0012243	Abnormal reproductive system morphology		
http://purl.obolibrary.org/obo/HP_0001827	Genital tract atresia	http://purl.obolibrary.org/obo/HP_0012243	Abnormal reproductive system morphology		
http://purl.obolibrary.org/obo/HP_0010460	Abnormality of the female genitalia	http://purl.obolibrary.org/obo/HP_0012243	Abnormal reproductive system morphology		
http://purl.obolibrary.org/obo/HP_0010461	Abnormality of the male genitalia	http://purl.obolibrary.org/obo/HP_0012243	Abnormal reproductive system morphology		
http://purl.obolibrary.org/obo/HP_0031983	Abnormal pulmonary thoracic imaging finding	http://purl.obolibrary.org/obo/HP_0012252	Abnormal respiratory system morphology		
http://purl.obolibrary.org/obo/HP_0002088	Abnormal lung morphology	http://purl.obolibrary.org/obo/HP_0012252	Abnormal respiratory system morphology		
http://purl.obolibrary.org/obo/HP_0000553	Abnormal uvea morphology	http://purl.obolibrary.org/obo/HP_0012372	Abnormal eye morphology		
http://purl.obolibrary.org/obo/HP_0000589	Coloboma	http://purl.obolibrary.org/obo/HP_0012372	Abnormal eye morphology		
http://purl.obolibrary.org/obo/HP_0004328	Abnormal anterior eye segment morphology	http://purl.obolibrary.org/obo/HP_0012372	Abnormal eye morphology		
http://purl.obolibrary.org/obo/HP_0004329	Abnormal posterior eye segment morphology	http://purl.obolibrary.org/obo/HP_0012372	Abnormal eye morphology		
http://purl.obolibrary.org/obo/HP_0000496	Abnormality of eye movement	http://purl.obolibrary.org/obo/HP_0012373	Abnormal eye physiology		
http://purl.obolibrary.org/obo/HP_0000504	Abnormality of vision	http://purl.obolibrary.org/obo/HP_0012373	Abnormal eye physiology		
http://purl.obolibrary.org/obo/HP_0100547	Abnormal forebrain morphology	http://purl.obolibrary.org/obo/HP_0012443	Abnormal brain morphology		
http://purl.obolibrary.org/obo/HP_0000639	Nystagmus	http://purl.obolibrary.org/obo/HP_0012547	Abnormal involuntary eye movements		
http://purl.obolibrary.org/obo/HP_0011442	Abnormal central motor function	http://purl.obolibrary.org/obo/HP_0012638	Abnormal nervous system physiology		
http://purl.obolibrary.org/obo/HP_0011446	Abnormality of mental function	http://purl.obolibrary.org/obo/HP_0012638	Abnormal nervous system physiology		
http://purl.obolibrary.org/obo/HP_0012640	Abnormality of intracranial pressure	http://purl.obolibrary.org/obo/HP_0012638	Abnormal nervous system physiology		
http://purl.obolibrary.org/obo/HP_0100022	Abnormality of movement	http://purl.obolibrary.org/obo/HP_0012638	Abnormal nervous system physiology		
http://purl.obolibrary.org/obo/HP_0000759	Abnormal peripheral nervous system morphology	http://purl.obolibrary.org/obo/HP_0012639	Abnormal nervous system morphology		
http://purl.obolibrary.org/obo/HP_0002011	Morphological central nervous system abnormality	http://purl.obolibrary.org/obo/HP_0012639	Abnormal nervous system morphology		
http://purl.obolibrary.org/obo/HP_0012447	Abnormal myelination	http://purl.obolibrary.org/obo/HP_0012639	Abnormal nervous system morphology		
http://purl.obolibrary.org/obo/HP_0002242	Abnormal intestine morphology	http://purl.obolibrary.org/obo/HP_0012718	Abnormal gastrointestinal tract morphology		
http://purl.obolibrary.org/obo/HP_0002209	Sparse scalp hair	http://purl.obolibrary.org/obo/HP_0008070	Sparse hair		
http://purl.obolibrary.org/obo/HP_0002815	Abnormality of the knee	http://purl.obolibrary.org/obo/HP_0100491	Abnormality of lower limb joint		
http://purl.obolibrary.org/obo/HP_0000085	Horseshoe kidney	http://purl.obolibrary.org/obo/HP_0100542	Abnormal localization of kidney		
http://purl.obolibrary.org/obo/HP_0000086	Ectopic kidney	http://purl.obolibrary.org/obo/HP_0100542	Abnormal localization of kidney		
http://purl.obolibrary.org/obo/HP_0001268	Mental deterioration	http://purl.obolibrary.org/obo/HP_0100543	Cognitive impairment		
http://purl.obolibrary.org/obo/HP_0002060	Abnormal cerebral morphology	http://purl.obolibrary.org/obo/HP_0100547	Abnormal forebrain morphology		
http://purl.obolibrary.org/obo/HP_0000039	Epispadias	http://purl.obolibrary.org/obo/HP_0100627	Displacement of the urethral meatus		
http://purl.obolibrary.org/obo/HP_0000047	Hypospadias	http://purl.obolibrary.org/obo/HP_0100627	Displacement of the urethral meatus		
http://purl.obolibrary.org/obo/HP_0000563	Keratoconus	http://purl.obolibrary.org/obo/HP_0100692	Increased corneal curvature		
http://purl.obolibrary.org/obo/HP_0100692	Increased corneal curvature	http://purl.obolibrary.org/obo/HP_0100691	Abnormality of the curvature of the cornea		
http://purl.obolibrary.org/obo/HP_0007556	Plantar hyperkeratosis	http://purl.obolibrary.org/obo/HP_0000962	Hyperkeratosis		
http://purl.obolibrary.org/obo/NCBITaxon_2559587	Riboviria	http://purl.obolibrary.org/obo/NCBITaxon_10239	Viruses		
http://purl.obolibrary.org/obo/UBERON_0001037	strand of hair	http://purl.obolibrary.org/obo/UBERON_0000021	cutaneous appendage		
http://purl.obolibrary.org/obo/UBERON_0000473	testis	http://purl.obolibrary.org/obo/UBERON_0003135	male reproductive organ		
http://purl.obolibrary.org/obo/UBERON_0002016	pulmonary vein	http://purl.obolibrary.org/obo/UBERON_0013768	great vessel of heart		
http://purl.obolibrary.org/obo/UBERON_0001579	olfactory nerve	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0001643	oculomotor nerve	http://purl.obolibrary.org/obo/UBERON_0001785	cranial nerve		
http://purl.obolibrary.org/obo/UBERON_0001645	trigeminal nerve	http://purl.obolibrary.org/obo/UBERON_0001785	cranial nerve		
http://purl.obolibrary.org/obo/UBERON_0001647	facial nerve	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0001649	glossopharyngeal nerve	http://purl.obolibrary.org/obo/UBERON_0001785	cranial nerve		
http://purl.obolibrary.org/obo/UBERON_0001135	smooth muscle tissue	http://purl.obolibrary.org/obo/UBERON_0002385	muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0002285	telencephalic ventricle	http://purl.obolibrary.org/obo/UBERON_0004086	brain ventricle		
http://purl.obolibrary.org/obo/UBERON_0002286	third ventricle	http://purl.obolibrary.org/obo/UBERON_0004086	brain ventricle		
http://purl.obolibrary.org/obo/SYMP_0000127	severe backache	http://purl.obolibrary.org/obo/SYMP_0000006	backache		
http://purl.obolibrary.org/obo/SYMP_0000633	inflammatory low back pain	http://purl.obolibrary.org/obo/SYMP_0000006	backache		
http://purl.obolibrary.org/obo/SYMP_0000635	low backache	http://purl.obolibrary.org/obo/SYMP_0000006	backache		
http://purl.obolibrary.org/obo/SYMP_0000368	proximal paralysis of arm and leg	http://purl.obolibrary.org/obo/SYMP_0000030	paralysis		
http://purl.obolibrary.org/obo/SYMP_0000283	facial paralysis	http://purl.obolibrary.org/obo/SYMP_0000030	paralysis		
http://purl.obolibrary.org/obo/SYMP_0000347	lip paralysis	http://purl.obolibrary.org/obo/SYMP_0000030	paralysis		
http://purl.obolibrary.org/obo/SYMP_0000348	throat muscle paralysis	http://purl.obolibrary.org/obo/SYMP_0000030	paralysis		
http://purl.obolibrary.org/obo/SYMP_0000658	extraocular muscles paralysis	http://purl.obolibrary.org/obo/SYMP_0000030	paralysis		
http://purl.obolibrary.org/obo/SYMP_0000711	hind limb paralysis	http://purl.obolibrary.org/obo/SYMP_0000030	paralysis		
http://purl.obolibrary.org/obo/SYMP_0000087	massive hepatic necrosis	http://purl.obolibrary.org/obo/SYMP_0000045	hepatic necrosis		
http://purl.obolibrary.org/obo/SYMP_0000326	mild hypotension	http://purl.obolibrary.org/obo/SYMP_0000059	hypotension		
http://purl.obolibrary.org/obo/SYMP_0000316	leg cramp	http://purl.obolibrary.org/obo/SYMP_0000093	muscle cramp		
http://purl.obolibrary.org/obo/SYMP_0000147	steatorrhea	http://purl.obolibrary.org/obo/SYMP_0000146	feces and droppings symptom		
http://purl.obolibrary.org/obo/SYMP_0000519	abnormal feces	http://purl.obolibrary.org/obo/SYMP_0000146	feces and droppings symptom		
http://purl.obolibrary.org/obo/SYMP_0000653	yellow dropping	http://purl.obolibrary.org/obo/SYMP_0000146	feces and droppings symptom		
http://purl.obolibrary.org/obo/SYMP_0000045	hepatic necrosis	http://purl.obolibrary.org/obo/SYMP_0000180	liver symptom		
http://purl.obolibrary.org/obo/SYMP_0000046	hepatitis	http://purl.obolibrary.org/obo/SYMP_0000180	liver symptom		
http://purl.obolibrary.org/obo/SYMP_0000047	hepatosplenomegaly	http://purl.obolibrary.org/obo/SYMP_0000158	spleen symptom		
http://purl.obolibrary.org/obo/SYMP_0000125	liver inflammation	http://purl.obolibrary.org/obo/SYMP_0000180	liver symptom		
http://purl.obolibrary.org/obo/SYMP_0000460	hepatomegaly	http://purl.obolibrary.org/obo/SYMP_0000180	liver symptom		
http://purl.obolibrary.org/obo/SYMP_0000206	acute suppurative parotiditis	http://purl.obolibrary.org/obo/SYMP_0000205	salivary gland symptom		
http://purl.obolibrary.org/obo/SYMP_0000373	salivation	http://purl.obolibrary.org/obo/SYMP_0000205	salivary gland symptom		
http://purl.obolibrary.org/obo/SYMP_0000223	arm weakness	http://purl.obolibrary.org/obo/SYMP_0000222	limb weakness		
http://purl.obolibrary.org/obo/SYMP_0000058	hyperreflexia	http://purl.obolibrary.org/obo/SYMP_0000249	reflex symptom		
http://purl.obolibrary.org/obo/SYMP_0000250	decreased flexor withdrawal reflex	http://purl.obolibrary.org/obo/SYMP_0000249	reflex symptom		
http://purl.obolibrary.org/obo/SYMP_0000305	impaired gag reflex	http://purl.obolibrary.org/obo/SYMP_0000249	reflex symptom		
http://purl.obolibrary.org/obo/SYMP_0000319	loss of tendon reflex	http://purl.obolibrary.org/obo/SYMP_0000249	reflex symptom		
http://purl.obolibrary.org/obo/SYMP_0000270	simple partial seizure	http://purl.obolibrary.org/obo/SYMP_0000266	focal seizure		
http://purl.obolibrary.org/obo/SYMP_0000271	complex partial seizure	http://purl.obolibrary.org/obo/SYMP_0000266	focal seizure		
http://purl.obolibrary.org/obo/SYMP_0000274	tonic seizure	http://purl.obolibrary.org/obo/SYMP_0000267	generalized seizure		
http://purl.obolibrary.org/obo/SYMP_0000268	tonic-clonic seizure	http://purl.obolibrary.org/obo/SYMP_0000267	generalized seizure		
http://purl.obolibrary.org/obo/SYMP_0000272	myoclonic seizure	http://purl.obolibrary.org/obo/SYMP_0000267	generalized seizure		
http://purl.obolibrary.org/obo/SYMP_0000275	atonic seizure	http://purl.obolibrary.org/obo/SYMP_0000267	generalized seizure		
http://purl.obolibrary.org/obo/SYMP_0000674	acute cranial nerve dysfunction	http://purl.obolibrary.org/obo/SYMP_0000336	neurological dysfunction		
http://purl.obolibrary.org/obo/SYMP_0000238	continuous profuse salivation	http://purl.obolibrary.org/obo/SYMP_0000373	salivation		
http://purl.obolibrary.org/obo/SYMP_0000277	excess salivation	http://purl.obolibrary.org/obo/SYMP_0000373	salivation		
http://purl.obolibrary.org/obo/SYMP_0000383	stiff neck	http://purl.obolibrary.org/obo/SYMP_0000384	neck symptom		
http://purl.obolibrary.org/obo/SYMP_0000335	neck weakness	http://purl.obolibrary.org/obo/SYMP_0000384	neck symptom		
http://purl.obolibrary.org/obo/SYMP_0000068	laryngitis	http://purl.obolibrary.org/obo/SYMP_0000385	throat symptom		
http://purl.obolibrary.org/obo/SYMP_0000069	laryngotracheitis	http://purl.obolibrary.org/obo/SYMP_0000385	throat symptom		
http://purl.obolibrary.org/obo/SYMP_0000112	tracheitis	http://purl.obolibrary.org/obo/SYMP_0000385	throat symptom		
http://purl.obolibrary.org/obo/SYMP_0000308	inability to swallow	http://purl.obolibrary.org/obo/SYMP_0000385	throat symptom		
http://purl.obolibrary.org/obo/SYMP_0000390	thyroid symptom	http://purl.obolibrary.org/obo/SYMP_0000385	throat symptom		
http://purl.obolibrary.org/obo/SYMP_0000493	dysphagia	http://purl.obolibrary.org/obo/SYMP_0000385	throat symptom		
http://purl.obolibrary.org/obo/SYMP_0000506	hemorrhage from throat	http://purl.obolibrary.org/obo/SYMP_0000385	throat symptom		
http://purl.obolibrary.org/obo/SYMP_0000697	decreased pharyngeal tone	http://purl.obolibrary.org/obo/SYMP_0000385	throat symptom		
http://purl.obolibrary.org/obo/SYMP_0000864	lesions in oropharynx	http://purl.obolibrary.org/obo/SYMP_0000385	throat symptom		
http://purl.obolibrary.org/obo/SYMP_0000391	thyroid abscesses	http://purl.obolibrary.org/obo/SYMP_0000390	thyroid symptom		
http://purl.obolibrary.org/obo/SYMP_0000395	facial muscle twitching	http://purl.obolibrary.org/obo/SYMP_0000394	muscle twitching		
http://purl.obolibrary.org/obo/SYMP_0000452	abnormal sputum	http://purl.obolibrary.org/obo/SYMP_0000431	sputum		
http://purl.obolibrary.org/obo/SYMP_0000449	cardiogenic shock	http://purl.obolibrary.org/obo/SYMP_0000450	shock		
http://purl.obolibrary.org/obo/SYMP_0000451	septic shock	http://purl.obolibrary.org/obo/SYMP_0000450	shock		
http://purl.obolibrary.org/obo/SYMP_0000612	periumbilic abdominal rigidity	http://purl.obolibrary.org/obo/SYMP_0000454	abdominal rigidity		
http://purl.obolibrary.org/obo/SYMP_0000453	right upper quadrant abdominal rigidity	http://purl.obolibrary.org/obo/SYMP_0000454	abdominal rigidity		
http://purl.obolibrary.org/obo/SYMP_0000467	right lower quadrant abdominal rigidity	http://purl.obolibrary.org/obo/SYMP_0000454	abdominal rigidity		
http://purl.obolibrary.org/obo/SYMP_0000468	generalized abdominal rigidity	http://purl.obolibrary.org/obo/SYMP_0000454	abdominal rigidity		
http://purl.obolibrary.org/obo/SYMP_0000469	epigastric abdominal rigidity	http://purl.obolibrary.org/obo/SYMP_0000454	abdominal rigidity		
http://purl.obolibrary.org/obo/SYMP_0000470	left upper quadrant abdominal rigidity	http://purl.obolibrary.org/obo/SYMP_0000454	abdominal rigidity		
http://purl.obolibrary.org/obo/SYMP_0000463	lack of normal physiological development	http://purl.obolibrary.org/obo/SYMP_0000464	lack of expected normal physiological development in childhood		
http://purl.obolibrary.org/obo/SYMP_0000545	multiple sites abdominal swelling	http://purl.obolibrary.org/obo/SYMP_0000478	abdominal swelling		
http://purl.obolibrary.org/obo/SYMP_0000477	epigastric abdominal swelling	http://purl.obolibrary.org/obo/SYMP_0000478	abdominal swelling		
http://purl.obolibrary.org/obo/SYMP_0000501	left lower quadrant abdominal swelling	http://purl.obolibrary.org/obo/SYMP_0000478	abdominal swelling		
http://purl.obolibrary.org/obo/SYMP_0000541	periumbilic abdominal swelling	http://purl.obolibrary.org/obo/SYMP_0000478	abdominal swelling		
http://purl.obolibrary.org/obo/SYMP_0000548	right lower quadrant abdominal swelling	http://purl.obolibrary.org/obo/SYMP_0000478	abdominal swelling		
http://purl.obolibrary.org/obo/SYMP_0000549	generalized abdominal swelling	http://purl.obolibrary.org/obo/SYMP_0000478	abdominal swelling		
http://purl.obolibrary.org/obo/SYMP_0000555	left upper quadrant abdominal swelling	http://purl.obolibrary.org/obo/SYMP_0000478	abdominal swelling		
http://purl.obolibrary.org/obo/SYMP_0000401	wobble	http://purl.obolibrary.org/obo/SYMP_0000479	abnormality of gait		
http://purl.obolibrary.org/obo/SYMP_0000233	inability to think clearly	http://purl.obolibrary.org/obo/SYMP_0000482	alteration of consciousness		
http://purl.obolibrary.org/obo/SYMP_0000817	inability to concentrate	http://purl.obolibrary.org/obo/SYMP_0000482	alteration of consciousness		
http://purl.obolibrary.org/obo/SYMP_0000483	left lower quadrant abdominal tenderness	http://purl.obolibrary.org/obo/SYMP_0000484	abdominal tenderness		
http://purl.obolibrary.org/obo/SYMP_0000490	multiple sites abdominal tenderness	http://purl.obolibrary.org/obo/SYMP_0000484	abdominal tenderness		
http://purl.obolibrary.org/obo/SYMP_0000497	periumbilic abdominal tenderness	http://purl.obolibrary.org/obo/SYMP_0000484	abdominal tenderness		
http://purl.obolibrary.org/obo/SYMP_0000498	generalized abdominal tenderness	http://purl.obolibrary.org/obo/SYMP_0000484	abdominal tenderness		
http://purl.obolibrary.org/obo/SYMP_0000499	right upper quadrant abdominal tenderness	http://purl.obolibrary.org/obo/SYMP_0000484	abdominal tenderness		
http://purl.obolibrary.org/obo/SYMP_0000500	right lower quadrant abdominal tenderness	http://purl.obolibrary.org/obo/SYMP_0000484	abdominal tenderness		
http://purl.obolibrary.org/obo/SYMP_0000579	insomnia with sleep apnea	http://purl.obolibrary.org/obo/SYMP_0000571	insomnia		
http://purl.obolibrary.org/obo/SYMP_0000583	hypersomnia with sleep apnea	http://purl.obolibrary.org/obo/SYMP_0000582	hypersomnia		
http://purl.obolibrary.org/obo/SYMP_0000720	microangiopathic hemolytic anemia	http://purl.obolibrary.org/obo/SYMP_0000631	hemolytic anemia		
http://purl.obolibrary.org/obo/SYMP_0000728	partial hind limb paralysis	http://purl.obolibrary.org/obo/SYMP_0000711	hind limb paralysis		
http://purl.obolibrary.org/obo/SYMP_0000762	excess lymphocytes in cerebrospinal fluid	http://purl.obolibrary.org/obo/SYMP_0000761	extracellular fluid alteration		
http://purl.obolibrary.org/obo/SYMP_0000771	pelvic swelling	http://purl.obolibrary.org/obo/SYMP_0000770	pelvic symptom		
http://purl.obolibrary.org/obo/SYMP_0000772	pelvic mass	http://purl.obolibrary.org/obo/SYMP_0000770	pelvic symptom		
http://purl.obolibrary.org/obo/SYMP_0000773	pelvic lump	http://purl.obolibrary.org/obo/SYMP_0000770	pelvic symptom		
http://purl.obolibrary.org/obo/SYMP_0000790	multiple sites pelvic swelling	http://purl.obolibrary.org/obo/SYMP_0000771	pelvic swelling		
http://purl.obolibrary.org/obo/SYMP_0000791	generalized pelvic swelling	http://purl.obolibrary.org/obo/SYMP_0000771	pelvic swelling		
http://purl.obolibrary.org/obo/SYMP_0000792	epigastric pelvic swelling	http://purl.obolibrary.org/obo/SYMP_0000771	pelvic swelling		
http://purl.obolibrary.org/obo/SYMP_0000793	left lower quadrant pelvic swelling	http://purl.obolibrary.org/obo/SYMP_0000771	pelvic swelling		
http://purl.obolibrary.org/obo/SYMP_0000794	left upper quadrant pelvic swelling	http://purl.obolibrary.org/obo/SYMP_0000771	pelvic swelling		
http://purl.obolibrary.org/obo/SYMP_0000795	periumbilic pelvic swelling	http://purl.obolibrary.org/obo/SYMP_0000771	pelvic swelling		
http://purl.obolibrary.org/obo/SYMP_0000796	right lower quadrant pelvic swelling	http://purl.obolibrary.org/obo/SYMP_0000771	pelvic swelling		
http://purl.obolibrary.org/obo/SYMP_0000797	right upper quadrant pelvic swelling	http://purl.obolibrary.org/obo/SYMP_0000771	pelvic swelling		
http://purl.obolibrary.org/obo/SYMP_0000782	right upper quadrant pelvic mass	http://purl.obolibrary.org/obo/SYMP_0000772	pelvic mass		
http://purl.obolibrary.org/obo/SYMP_0000783	left lower quadrant pelvic mass	http://purl.obolibrary.org/obo/SYMP_0000772	pelvic mass		
http://purl.obolibrary.org/obo/SYMP_0000785	left upper quadrant pelvic mass	http://purl.obolibrary.org/obo/SYMP_0000772	pelvic mass		
http://purl.obolibrary.org/obo/SYMP_0000787	periumbilic pelvic mass	http://purl.obolibrary.org/obo/SYMP_0000772	pelvic mass		
http://purl.obolibrary.org/obo/SYMP_0000788	multiple sites pelvic mass	http://purl.obolibrary.org/obo/SYMP_0000772	pelvic mass		
http://purl.obolibrary.org/obo/SYMP_0000789	right lower quadrant pelvic mass	http://purl.obolibrary.org/obo/SYMP_0000772	pelvic mass		
http://purl.obolibrary.org/obo/SYMP_0000774	generalized pelvic lump	http://purl.obolibrary.org/obo/SYMP_0000773	pelvic lump		
http://purl.obolibrary.org/obo/SYMP_0000775	right lower quadrant pelvic lump	http://purl.obolibrary.org/obo/SYMP_0000773	pelvic lump		
http://purl.obolibrary.org/obo/SYMP_0000777	left lower quadrant pelvic lump	http://purl.obolibrary.org/obo/SYMP_0000773	pelvic lump		
http://purl.obolibrary.org/obo/SYMP_0000778	left upper quadrant pelvic lump	http://purl.obolibrary.org/obo/SYMP_0000773	pelvic lump		
http://purl.obolibrary.org/obo/SYMP_0000779	right upper quadrant pelvic lump	http://purl.obolibrary.org/obo/SYMP_0000773	pelvic lump		
http://purl.obolibrary.org/obo/SYMP_0000780	multiple sites pelvic lump	http://purl.obolibrary.org/obo/SYMP_0000773	pelvic lump		
http://purl.obolibrary.org/obo/SYMP_0000781	periumbilic pelvic lump	http://purl.obolibrary.org/obo/SYMP_0000773	pelvic lump		
http://purl.obolibrary.org/obo/SYMP_0000803	multiple sites abdominal mass	http://purl.obolibrary.org/obo/SYMP_0000798	abdominal mass		
http://purl.obolibrary.org/obo/SYMP_0000800	left upper quadrant abdominal mass	http://purl.obolibrary.org/obo/SYMP_0000798	abdominal mass		
http://purl.obolibrary.org/obo/SYMP_0000801	left lower quadrant abdominal mass	http://purl.obolibrary.org/obo/SYMP_0000798	abdominal mass		
http://purl.obolibrary.org/obo/SYMP_0000804	generalized abdominal mass	http://purl.obolibrary.org/obo/SYMP_0000798	abdominal mass		
http://purl.obolibrary.org/obo/SYMP_0000805	periumbilic abdominal mass	http://purl.obolibrary.org/obo/SYMP_0000798	abdominal mass		
http://purl.obolibrary.org/obo/SYMP_0000806	right lower quadrant abdominal mass	http://purl.obolibrary.org/obo/SYMP_0000798	abdominal mass		
http://purl.obolibrary.org/obo/SYMP_0000807	right upper quadrant abdominal mass	http://purl.obolibrary.org/obo/SYMP_0000798	abdominal mass		
http://purl.obolibrary.org/obo/SYMP_0000808	multiple sites abdominal lump	http://purl.obolibrary.org/obo/SYMP_0000799	abdominal lump		
http://purl.obolibrary.org/obo/SYMP_0000810	epigastric abdominal lump	http://purl.obolibrary.org/obo/SYMP_0000799	abdominal lump		
http://purl.obolibrary.org/obo/SYMP_0000811	left upper quadrant abdominal lump	http://purl.obolibrary.org/obo/SYMP_0000799	abdominal lump		
http://purl.obolibrary.org/obo/SYMP_0000812	right lower quadrant abdominal lump	http://purl.obolibrary.org/obo/SYMP_0000799	abdominal lump		
http://purl.obolibrary.org/obo/SYMP_0000814	generalized abdominal lump	http://purl.obolibrary.org/obo/SYMP_0000799	abdominal lump		
http://purl.obolibrary.org/obo/SYMP_0000815	left lower quadrant abdominal lump	http://purl.obolibrary.org/obo/SYMP_0000799	abdominal lump		
http://purl.obolibrary.org/obo/SYMP_0019138	immune system symptom	http://purl.obolibrary.org/obo/SYMP_0017795	hemic and immune system symptom		
http://purl.obolibrary.org/obo/SYMP_0019139	hemic system symptom	http://purl.obolibrary.org/obo/SYMP_0017795	hemic and immune system symptom		
http://purl.obolibrary.org/obo/SYMP_0019140	hematopoietic system symptom	http://purl.obolibrary.org/obo/SYMP_0017795	hemic and immune system symptom		
http://purl.obolibrary.org/obo/SYMP_0000157	thymus symptom	http://purl.obolibrary.org/obo/SYMP_0019138	immune system symptom		
http://purl.obolibrary.org/obo/SYMP_0000303	hypoxemia	http://purl.obolibrary.org/obo/SYMP_0019139	hemic system symptom		
http://purl.obolibrary.org/obo/SYMP_0020060	low white blood cell count	http://purl.obolibrary.org/obo/SYMP_0019139	hemic system symptom		
http://purl.obolibrary.org/obo/SYMP_0000059	hypotension	http://purl.obolibrary.org/obo/SYMP_0019139	hemic system symptom		
http://purl.obolibrary.org/obo/SYMP_0000106	plasmacytosis	http://purl.obolibrary.org/obo/SYMP_0019139	hemic system symptom		
http://purl.obolibrary.org/obo/SYMP_0000114	thrombocytopenia	http://purl.obolibrary.org/obo/SYMP_0019139	hemic system symptom		
http://purl.obolibrary.org/obo/SYMP_0000153	vasculitis	http://purl.obolibrary.org/obo/SYMP_0019139	hemic system symptom		
http://purl.obolibrary.org/obo/SYMP_0000209	ischemia	http://purl.obolibrary.org/obo/SYMP_0019139	hemic system symptom		
http://purl.obolibrary.org/obo/SYMP_0000294	hemolysis	http://purl.obolibrary.org/obo/SYMP_0019139	hemic system symptom		
http://purl.obolibrary.org/obo/SYMP_0000425	reticulocytosis	http://purl.obolibrary.org/obo/SYMP_0019139	hemic system symptom		
http://purl.obolibrary.org/obo/SYMP_0000426	macrocytosis	http://purl.obolibrary.org/obo/SYMP_0019139	hemic system symptom		
http://purl.obolibrary.org/obo/SYMP_0000749	hemodynamic instability	http://purl.obolibrary.org/obo/SYMP_0019139	hemic system symptom		
http://purl.obolibrary.org/obo/SYMP_0019144	microangiopathy	http://purl.obolibrary.org/obo/SYMP_0019139	hemic system symptom		
http://purl.obolibrary.org/obo/SYMP_0019149	toxemia	http://purl.obolibrary.org/obo/SYMP_0019139	hemic system symptom		
http://purl.obolibrary.org/obo/SYMP_0019156	hematogenous	http://purl.obolibrary.org/obo/SYMP_0019139	hemic system symptom		
http://purl.obolibrary.org/obo/SYMP_0000755	intense toxemia	http://purl.obolibrary.org/obo/SYMP_0019149	toxemia		
http://purl.obolibrary.org/obo/SYMP_0000297	hilar lymphadenitis	http://purl.obolibrary.org/obo/SYMP_0019155	lymphadenitis		
http://purl.obolibrary.org/obo/SYMP_0000622	acute mesenteric lymphadenitis	http://purl.obolibrary.org/obo/SYMP_0019155	lymphadenitis		
http://purl.obolibrary.org/obo/SYMP_0000036	hemorrhagic gastroenteritis	http://purl.obolibrary.org/obo/SYMP_0019159	gastroenteritis		
http://purl.obolibrary.org/obo/SYMP_0000677	acute gastroenteritis	http://purl.obolibrary.org/obo/SYMP_0019159	gastroenteritis		
http://purl.obolibrary.org/obo/SYMP_0000200	acute arthritis	http://purl.obolibrary.org/obo/SYMP_0019169	arthritis		
http://purl.obolibrary.org/obo/CL_0001063	neoplastic cell	http://purl.obolibrary.org/obo/CL_0001061	abnormal cell		
http://purl.obolibrary.org/obo/CL_0001064	malignant cell	http://purl.obolibrary.org/obo/CL_0001063	neoplastic cell		
http://purl.obolibrary.org/obo/HP_0000015	Bladder diverticulum	http://purl.obolibrary.org/obo/HP_0025487	Abnormal bladder morphology		
http://purl.obolibrary.org/obo/NCBITaxon_2948857	Paslahepevirus	http://purl.obolibrary.org/obo/NCBITaxon_2946639	Orthohepevirinae		
http://purl.obolibrary.org/obo/NCBITaxon_2948964	Phleinae	http://purl.obolibrary.org/obo/NCBITaxon_2948570	Poodinae		
http://purl.obolibrary.org/obo/NCBITaxon_186540	Sudan ebolavirus	http://purl.obolibrary.org/obo/NCBITaxon_3052460	Orthoebolavirus sudanense		
http://purl.obolibrary.org/obo/NCBITaxon_186538	Zaire ebolavirus	http://purl.obolibrary.org/obo/NCBITaxon_3052462	Orthoebolavirus zairense		
http://purl.obolibrary.org/obo/NCBITaxon_565995	Bundibugyo virus	http://purl.obolibrary.org/obo/NCBITaxon_3052458	Orthoebolavirus bundibugyoense		
http://purl.obolibrary.org/obo/CHEBI_36835	3alpha-hydroxy steroid	http://purl.obolibrary.org/obo/CHEBI_35681	secondary alcohol		
http://purl.obolibrary.org/obo/CHEBI_32952	amine	http://purl.obolibrary.org/obo/CHEBI_50047	organic amino compound		
http://purl.obolibrary.org/obo/CHEBI_88061	polyamine	http://purl.obolibrary.org/obo/CHEBI_50047	organic amino compound		
http://purl.obolibrary.org/obo/CHEBI_33709	amino acid	http://purl.obolibrary.org/obo/CHEBI_33575	carboxylic acid		
http://purl.obolibrary.org/obo/CHEBI_33247	organic group	http://purl.obolibrary.org/obo/CHEBI_24433	group		
http://purl.obolibrary.org/obo/CHEBI_26873	terpenoid	http://purl.obolibrary.org/obo/CHEBI_24913	isoprenoid		
http://purl.obolibrary.org/obo/CHEBI_26096	phthalyl group	http://purl.obolibrary.org/obo/CHEBI_27207	univalent carboacyl group		
http://purl.obolibrary.org/obo/CHEBI_47381	diclofenac	http://purl.obolibrary.org/obo/CHEBI_50995	secondary amino compound		
http://purl.obolibrary.org/obo/CHEBI_83820	non-proteinogenic amino acid	http://purl.obolibrary.org/obo/CHEBI_33709	amino acid		
http://purl.obolibrary.org/obo/CHEBI_16134	ammonia	http://purl.obolibrary.org/obo/CHEBI_138675	gas molecular entity		
http://purl.obolibrary.org/obo/CHEBI_23217	cholines	http://purl.obolibrary.org/obo/CHEBI_35267	quaternary ammonium ion		
http://purl.obolibrary.org/obo/CHEBI_45652	succinylcholine	http://purl.obolibrary.org/obo/CHEBI_36181	succinate ester		
http://purl.obolibrary.org/obo/CHEBI_59059	methyl isocyanate	http://purl.obolibrary.org/obo/CHEBI_53212	isocyanates		
http://purl.obolibrary.org/obo/CHEBI_36587	organic oxo compound	http://purl.obolibrary.org/obo/CHEBI_72695	organic molecule		
http://purl.obolibrary.org/obo/CHEBI_33832	organic cyclic compound	http://purl.obolibrary.org/obo/CHEBI_33595	cyclic compound		
http://purl.obolibrary.org/obo/CHEBI_35107	azane	http://purl.obolibrary.org/obo/CHEBI_35106	nitrogen hydride		
http://purl.obolibrary.org/obo/CHEBI_46634	carbapenemcarboxylic acid	http://purl.obolibrary.org/obo/CHEBI_25384	monocarboxylic acid		
http://purl.obolibrary.org/obo/CHEBI_43968	meropenem	http://purl.obolibrary.org/obo/CHEBI_16385	organic sulfide		
http://purl.obolibrary.org/obo/CL_0001061	abnormal cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0000034	stem cell	http://purl.obolibrary.org/obo/CL_0011115	precursor cell		
http://purl.obolibrary.org/obo/CL_0000039	germ line cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0000064	ciliated cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0000151	secretory cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0000163	endocrine cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0000183	contractile cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0000211	electrically active cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0000219	motile cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0000225	anucleate cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0000226	single nucleate cell	http://purl.obolibrary.org/obo/CL_0002242	nucleate cell		
http://purl.obolibrary.org/obo/CL_0000234	phagocyte	http://purl.obolibrary.org/obo/CL_0000325	stuff accumulating cell		
http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0000325	stuff accumulating cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0000329	oxygen accumulating cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0000349	extraembryonic cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0000412	polyploid cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0000413	haploid cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0000408	male gamete	http://purl.obolibrary.org/obo/CL_0000300	gamete		
http://purl.obolibrary.org/obo/CL_0000166	chromaffin cell	http://purl.obolibrary.org/obo/CL_0000568	amine precursor uptake and decarboxylation cell		
http://purl.obolibrary.org/obo/CL_0000067	ciliated epithelial cell	http://purl.obolibrary.org/obo/CL_0000066	epithelial cell		
http://purl.obolibrary.org/obo/CL_1100001	secretory epithelial cell	http://purl.obolibrary.org/obo/CL_0000151	secretory cell		
http://purl.obolibrary.org/obo/CL_0000065	ependymal cell	http://purl.obolibrary.org/obo/CL_0000710	neurecto-epithelial cell		
http://purl.obolibrary.org/obo/CL_0000068	duct epithelial cell	http://purl.obolibrary.org/obo/CL_0000066	epithelial cell		
http://purl.obolibrary.org/obo/CL_0000075	columnar/cuboidal epithelial cell	http://purl.obolibrary.org/obo/CL_0000066	epithelial cell		
http://purl.obolibrary.org/obo/CL_0000076	squamous epithelial cell	http://purl.obolibrary.org/obo/CL_0000066	epithelial cell		
http://purl.obolibrary.org/obo/CL_0000079	stratified epithelial cell	http://purl.obolibrary.org/obo/CL_0000066	epithelial cell		
http://purl.obolibrary.org/obo/CL_0000083	epithelial cell of pancreas	http://purl.obolibrary.org/obo/CL_0002076	endo-epithelial cell		
http://purl.obolibrary.org/obo/CL_0000182	hepatocyte	http://purl.obolibrary.org/obo/CL_0000417	endopolyploid cell		
http://purl.obolibrary.org/obo/CL_0000244	transitional epithelial cell	http://purl.obolibrary.org/obo/CL_0000066	epithelial cell		
http://purl.obolibrary.org/obo/CL_0000362	epidermal cell	http://purl.obolibrary.org/obo/CL_0002159	general ecto-epithelial cell		
http://purl.obolibrary.org/obo/CL_0000185	myoepithelial cell	http://purl.obolibrary.org/obo/CL_0000183	contractile cell		
http://purl.obolibrary.org/obo/CL_0000077	mesothelial cell	http://purl.obolibrary.org/obo/CL_0002078	meso-epithelial cell		
http://purl.obolibrary.org/obo/CL_0000240	stratified squamous epithelial cell	http://purl.obolibrary.org/obo/CL_0000079	stratified epithelial cell		
http://purl.obolibrary.org/obo/CL_0000237	keratinizing barrier epithelial cell	http://purl.obolibrary.org/obo/CL_0002077	ecto-epithelial cell		
http://purl.obolibrary.org/obo/CL_0000094	granulocyte	http://purl.obolibrary.org/obo/CL_0000766	myeloid leukocyte		
http://purl.obolibrary.org/obo/CL_0000232	erythrocyte	http://purl.obolibrary.org/obo/CL_0000764	erythroid lineage cell		
http://purl.obolibrary.org/obo/CL_0000233	platelet	http://purl.obolibrary.org/obo/CL_0000763	myeloid cell		
http://purl.obolibrary.org/obo/CL_0000123	neuron associated cell (sensu Vertebrata)	http://purl.obolibrary.org/obo/CL_0000095	neuron associated cell		
http://purl.obolibrary.org/obo/CL_0000125	glial cell	http://purl.obolibrary.org/obo/CL_0000095	neuron associated cell		
http://purl.obolibrary.org/obo/CL_0000235	macrophage	http://purl.obolibrary.org/obo/CL_0000766	myeloid leukocyte		
http://purl.obolibrary.org/obo/CL_0000126	macroglial cell	http://purl.obolibrary.org/obo/CL_0000125	glial cell		
http://purl.obolibrary.org/obo/CL_0000127	astrocyte	http://purl.obolibrary.org/obo/CL_0000126	macroglial cell		
http://purl.obolibrary.org/obo/CL_0000128	oligodendrocyte	http://purl.obolibrary.org/obo/CL_4023154	myelinating glial cell		
http://purl.obolibrary.org/obo/CL_0000148	melanocyte	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0000152	exocrine cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0000154	protein secreting cell	http://purl.obolibrary.org/obo/CL_0000151	secretory cell		
http://purl.obolibrary.org/obo/CL_0000167	peptide hormone secreting cell	http://purl.obolibrary.org/obo/CL_0000151	secretory cell		
http://purl.obolibrary.org/obo/CL_0000174	steroid hormone secreting cell	http://purl.obolibrary.org/obo/CL_0000151	secretory cell		
http://purl.obolibrary.org/obo/CL_0000138	chondrocyte	http://purl.obolibrary.org/obo/CL_0007001	skeletogenic cell		
http://purl.obolibrary.org/obo/CL_0000187	muscle cell	http://purl.obolibrary.org/obo/CL_0000393	electrically responsive cell		
http://purl.obolibrary.org/obo/CL_0000393	electrically responsive cell	http://purl.obolibrary.org/obo/CL_0000211	electrically active cell		
http://purl.obolibrary.org/obo/CL_0000404	electrically signaling cell	http://purl.obolibrary.org/obo/CL_0000211	electrically active cell		
http://purl.obolibrary.org/obo/CL_0000312	keratinocyte	http://purl.obolibrary.org/obo/CL_0000237	keratinizing barrier epithelial cell		
http://purl.obolibrary.org/obo/CL_0000019	sperm	http://purl.obolibrary.org/obo/CL_0000408	male gamete		
http://purl.obolibrary.org/obo/CL_0000021	female germ cell	http://purl.obolibrary.org/obo/CL_0000586	germ cell		
http://purl.obolibrary.org/obo/CL_0000036	epithelial fate stem cell	http://purl.obolibrary.org/obo/CL_0000723	somatic stem cell		
http://purl.obolibrary.org/obo/CL_0000066	epithelial cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0000115	endothelial cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0000221	ectodermal cell	http://purl.obolibrary.org/obo/CL_0002321	embryonic cell (metazoa)		
http://purl.obolibrary.org/obo/CL_0000222	mesodermal cell	http://purl.obolibrary.org/obo/CL_0002321	embryonic cell (metazoa)		
http://purl.obolibrary.org/obo/CL_0000223	endodermal cell	http://purl.obolibrary.org/obo/CL_0002321	embryonic cell (metazoa)		
http://purl.obolibrary.org/obo/CL_0000136	adipocyte	http://purl.obolibrary.org/obo/CL_0002320	connective tissue cell		
http://purl.obolibrary.org/obo/CL_0000147	pigment cell	http://purl.obolibrary.org/obo/CL_0000325	stuff accumulating cell		
http://purl.obolibrary.org/obo/CL_0000311	keratin accumulating cell	http://purl.obolibrary.org/obo/CL_0000325	stuff accumulating cell		
http://purl.obolibrary.org/obo/CL_0000153	glycosaminoglycan secreting cell	http://purl.obolibrary.org/obo/CL_0000447	carbohydrate secreting cell		
http://purl.obolibrary.org/obo/CL_0000351	trophoblast cell	http://purl.obolibrary.org/obo/CL_0000349	extraembryonic cell		
http://purl.obolibrary.org/obo/CL_0000417	endopolyploid cell	http://purl.obolibrary.org/obo/CL_0000412	polyploid cell		
http://purl.obolibrary.org/obo/CL_0000300	gamete	http://purl.obolibrary.org/obo/CL_0000586	germ cell		
http://purl.obolibrary.org/obo/CL_0000057	fibroblast	http://purl.obolibrary.org/obo/CL_0000499	stromal cell		
http://purl.obolibrary.org/obo/CL_0000327	extracellular matrix secreting cell	http://purl.obolibrary.org/obo/CL_0000499	stromal cell		
http://purl.obolibrary.org/obo/CL_0000113	mononuclear phagocyte	http://purl.obolibrary.org/obo/CL_0000842	mononuclear leukocyte		
http://purl.obolibrary.org/obo/CL_0000100	motor neuron	http://purl.obolibrary.org/obo/CL_0000527	efferent neuron		
http://purl.obolibrary.org/obo/CL_0000029	neural crest derived neuron	http://purl.obolibrary.org/obo/CL_0000540	neuron		
http://purl.obolibrary.org/obo/CL_0000084	T cell	http://purl.obolibrary.org/obo/CL_0000542	lymphocyte		
http://purl.obolibrary.org/obo/CL_0000015	male germ cell	http://purl.obolibrary.org/obo/CL_0000586	germ cell		
http://purl.obolibrary.org/obo/CL_0000025	egg cell	http://purl.obolibrary.org/obo/CL_0000675	female gamete		
http://purl.obolibrary.org/obo/CL_0000145	professional antigen presenting cell	http://purl.obolibrary.org/obo/CL_0000738	leukocyte		
http://purl.obolibrary.org/obo/CL_0000097	mast cell	http://purl.obolibrary.org/obo/CL_0002274	histamine secreting cell		
http://purl.obolibrary.org/obo/CL_0000236	B cell	http://purl.obolibrary.org/obo/CL_0000945	lymphocyte of B lineage		
http://purl.obolibrary.org/obo/CL_0000081	blood cell	http://purl.obolibrary.org/obo/CL_0000988	hematopoietic cell		
http://purl.obolibrary.org/obo/CL_0000095	neuron associated cell	http://purl.obolibrary.org/obo/CL_0002319	neural cell		
http://purl.obolibrary.org/obo/CL_0000058	chondroblast	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_0000062	osteoblast	http://purl.obolibrary.org/obo/CL_0002320	connective tissue cell		
http://purl.obolibrary.org/obo/CL_0000192	smooth muscle cell	http://purl.obolibrary.org/obo/CL_0008007	visceral muscle cell		
http://purl.obolibrary.org/obo/DOID_4512	conventional angiosarcoma	http://purl.obolibrary.org/obo/DOID_0001816	angiosarcoma		
http://purl.obolibrary.org/obo/DOID_4522	superior vena cava angiosarcoma	http://purl.obolibrary.org/obo/DOID_866	vein disease		
http://purl.obolibrary.org/obo/DOID_4500	hypokalemia	http://purl.obolibrary.org/obo/DOID_0050032	mineral metabolism disease		
http://purl.obolibrary.org/obo/DOID_3683	lung benign neoplasm	http://purl.obolibrary.org/obo/DOID_850	lung disease		
http://purl.obolibrary.org/obo/DOID_6059	nasal vestibule papilloma	http://purl.obolibrary.org/obo/DOID_2615	papilloma		
http://purl.obolibrary.org/obo/DOID_6564	neurilemmoma of the pleura	http://purl.obolibrary.org/obo/DOID_956	peripheral nerve schwannoma		
http://purl.obolibrary.org/obo/DOID_5427	urinary bladder villous adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		
http://purl.obolibrary.org/obo/DOID_5429	bladder flat intraepithelial lesion	http://purl.obolibrary.org/obo/DOID_0050623	bladder benign neoplasm		
http://purl.obolibrary.org/obo/DOID_6932	urinary bladder inverted papilloma	http://purl.obolibrary.org/obo/DOID_2615	papilloma		
http://purl.obolibrary.org/obo/DOID_7333	nephrogenic adenoma of urinary bladder	http://purl.obolibrary.org/obo/DOID_657	adenoma		
http://purl.obolibrary.org/obo/DOID_275	gastric hemangioma	http://purl.obolibrary.org/obo/DOID_76	stomach disease		
http://purl.obolibrary.org/obo/DOID_3918	pancreatic cystadenoma	http://purl.obolibrary.org/obo/DOID_26	pancreas disease		
http://purl.obolibrary.org/obo/DOID_4147	gastrointestinal adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		
http://purl.obolibrary.org/obo/DOID_4148	gastrointestinal neuroendocrine benign tumor	http://purl.obolibrary.org/obo/DOID_0050624	gastrointestinal system benign neoplasm		
http://purl.obolibrary.org/obo/DOID_7532	squamous papillomatosis	http://purl.obolibrary.org/obo/DOID_0050624	gastrointestinal system benign neoplasm		
http://purl.obolibrary.org/obo/DOID_7851	pancreatic intraductal papillary-mucinous adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		
http://purl.obolibrary.org/obo/DOID_959	esophagus squamous cell papilloma	http://purl.obolibrary.org/obo/DOID_6050	esophageal disease		
http://purl.obolibrary.org/obo/DOID_960	esophagus leiomyoma	http://purl.obolibrary.org/obo/DOID_6050	esophageal disease		
http://purl.obolibrary.org/obo/DOID_4608	common bile duct neoplasm	http://purl.obolibrary.org/obo/DOID_0050625	biliary tract benign neoplasm		
http://purl.obolibrary.org/obo/DOID_5469	biliary tract intraductal papillary mucinous neoplasm	http://purl.obolibrary.org/obo/DOID_0050625	biliary tract benign neoplasm		
http://purl.obolibrary.org/obo/DOID_6500	cerebellar angioblastoma	http://purl.obolibrary.org/obo/DOID_4205	cerebellum cancer		
http://purl.obolibrary.org/obo/DOID_308	early myoclonic encephalopathy	http://purl.obolibrary.org/obo/DOID_0050702	neonatal period electroclinical syndrome		
http://purl.obolibrary.org/obo/DOID_8712	neurofibromatosis	http://purl.obolibrary.org/obo/DOID_0080690	RASopathy		
http://purl.obolibrary.org/obo/DOID_2216	factor V deficiency	http://purl.obolibrary.org/obo/DOID_1247	blood coagulation disease		
http://purl.obolibrary.org/obo/DOID_5877	endocardium cancer	http://purl.obolibrary.org/obo/DOID_117	heart cancer		
http://purl.obolibrary.org/obo/DOID_5644	tricuspid valve prolapse	http://purl.obolibrary.org/obo/DOID_0050826	tricuspid valve disease		
http://purl.obolibrary.org/obo/DOID_223	basilar artery insufficiency	http://purl.obolibrary.org/obo/DOID_225	syndrome		
http://purl.obolibrary.org/obo/DOID_342	subclavian artery aneurysm	http://purl.obolibrary.org/obo/DOID_0050828	artery disease		
http://purl.obolibrary.org/obo/DOID_8012	benign pericardial teratoma	http://purl.obolibrary.org/obo/DOID_0060097	thoracic benign neoplasm		
http://purl.obolibrary.org/obo/DOID_4752	multiple system atrophy	http://purl.obolibrary.org/obo/DOID_0050890	synucleinopathy		
http://purl.obolibrary.org/obo/DOID_3860	cerebellar vermis medulloblastoma	http://purl.obolibrary.org/obo/DOID_0060104	cerebellar medulloblastoma		
http://purl.obolibrary.org/obo/DOID_3861	medullomyoblastoma	http://purl.obolibrary.org/obo/DOID_0050902	medulloblastoma		
http://purl.obolibrary.org/obo/DOID_3864	adult medulloblastoma	http://purl.obolibrary.org/obo/DOID_0050902	medulloblastoma		
http://purl.obolibrary.org/obo/DOID_3868	melanotic medulloblastoma	http://purl.obolibrary.org/obo/DOID_0050902	medulloblastoma		
http://purl.obolibrary.org/obo/DOID_3869	childhood medulloblastoma	http://purl.obolibrary.org/obo/DOID_0050902	medulloblastoma		
http://purl.obolibrary.org/obo/DOID_4562	subacute bacterial endocarditis	http://purl.obolibrary.org/obo/DOID_0060000	infective endocarditis		
http://purl.obolibrary.org/obo/DOID_9336	bestiality	http://purl.obolibrary.org/obo/DOID_0060044	paraphilia disorder		
http://purl.obolibrary.org/obo/DOID_602	cancerophobia	http://purl.obolibrary.org/obo/DOID_0060048	nosophobia		
http://purl.obolibrary.org/obo/DOID_603	AIDS phobia	http://purl.obolibrary.org/obo/DOID_0060048	nosophobia		
http://purl.obolibrary.org/obo/DOID_8925	primary thrombocytopenia	http://purl.obolibrary.org/obo/DOID_0060050	autoimmune disease of blood		
http://purl.obolibrary.org/obo/DOID_5821	methotrexate-associated lymphoproliferation	http://purl.obolibrary.org/obo/DOID_0060058	lymphoma		
http://purl.obolibrary.org/obo/DOID_5823	childhood lymphoma	http://purl.obolibrary.org/obo/DOID_0060058	lymphoma		
http://purl.obolibrary.org/obo/DOID_5825	adult lymphoma	http://purl.obolibrary.org/obo/DOID_0060058	lymphoma		
http://purl.obolibrary.org/obo/DOID_6547	heart lymphoma	http://purl.obolibrary.org/obo/DOID_117	heart cancer		
http://purl.obolibrary.org/obo/DOID_6760	lung lymphoma	http://purl.obolibrary.org/obo/DOID_1324	lung cancer		
http://purl.obolibrary.org/obo/DOID_8135	gallbladder lymphoma	http://purl.obolibrary.org/obo/DOID_3121	gallbladder cancer		
http://purl.obolibrary.org/obo/DOID_903	gastrointestinal lymphoma	http://purl.obolibrary.org/obo/DOID_3119	gastrointestinal system cancer		
http://purl.obolibrary.org/obo/DOID_8541	Sezary's disease	http://purl.obolibrary.org/obo/DOID_0060061	primary cutaneous T-cell non-Hodgkin lymphoma		
http://purl.obolibrary.org/obo/DOID_8691	mycosis fungoides	http://purl.obolibrary.org/obo/DOID_0060061	primary cutaneous T-cell non-Hodgkin lymphoma		
http://purl.obolibrary.org/obo/DOID_8866	actinic keratosis	http://purl.obolibrary.org/obo/DOID_0060071	pre-malignant neoplasm		
http://purl.obolibrary.org/obo/DOID_8538	reticulosarcoma	http://purl.obolibrary.org/obo/DOID_0060073	lymphatic system cancer		
http://purl.obolibrary.org/obo/DOID_4658	benign mastocytoma	http://purl.obolibrary.org/obo/DOID_0060084	cell type benign neoplasm		
http://purl.obolibrary.org/obo/DOID_2885	benign prostate phyllodes tumor	http://purl.obolibrary.org/obo/DOID_0060087	male reproductive organ benign neoplasm		
http://purl.obolibrary.org/obo/DOID_3855	seminal vesicle tumor	http://purl.obolibrary.org/obo/DOID_0060087	male reproductive organ benign neoplasm		
http://purl.obolibrary.org/obo/DOID_7675	testicular fibroma	http://purl.obolibrary.org/obo/DOID_0060087	male reproductive organ benign neoplasm		
http://purl.obolibrary.org/obo/DOID_7676	testicular thecoma	http://purl.obolibrary.org/obo/DOID_0060087	male reproductive organ benign neoplasm		
http://purl.obolibrary.org/obo/DOID_2068	Bartholin's gland benign neoplasm	http://purl.obolibrary.org/obo/DOID_0060088	vestibular gland benign neoplasm		
http://purl.obolibrary.org/obo/DOID_1786	adrenal rest tumor	http://purl.obolibrary.org/obo/DOID_0060089	endocrine organ benign neoplasm		
http://purl.obolibrary.org/obo/DOID_5389	oxyphilic adenoma	http://purl.obolibrary.org/obo/DOID_0060089	endocrine organ benign neoplasm		
http://purl.obolibrary.org/obo/DOID_2679	dysembryoplastic neuroepithelial tumor	http://purl.obolibrary.org/obo/DOID_0060090	central nervous system benign neoplasm		
http://purl.obolibrary.org/obo/DOID_3813	central nervous system chondroma	http://purl.obolibrary.org/obo/DOID_2602	chondroma		
http://purl.obolibrary.org/obo/DOID_3840	craniopharyngioma	http://purl.obolibrary.org/obo/DOID_0060090	central nervous system benign neoplasm		
http://purl.obolibrary.org/obo/DOID_4587	benign meningioma	http://purl.obolibrary.org/obo/DOID_0060090	central nervous system benign neoplasm		
http://purl.obolibrary.org/obo/DOID_5393	brain angioma	http://purl.obolibrary.org/obo/DOID_6713	cerebrovascular disease		
http://purl.obolibrary.org/obo/DOID_8331	perineural angioma	http://purl.obolibrary.org/obo/DOID_255	hemangioma		
http://purl.obolibrary.org/obo/DOID_5044	cardiac granular cell neoplasm	http://purl.obolibrary.org/obo/DOID_0060091	cardiovascular organ benign neoplasm		
http://purl.obolibrary.org/obo/DOID_5238	benign perivascular tumor	http://purl.obolibrary.org/obo/DOID_0060091	cardiovascular organ benign neoplasm		
http://purl.obolibrary.org/obo/DOID_6285	heart lipoma	http://purl.obolibrary.org/obo/DOID_3315	lipoma		
http://purl.obolibrary.org/obo/DOID_4419	benign deep fibrous histiocytoma	http://purl.obolibrary.org/obo/DOID_0060092	immune system organ benign neoplasm		
http://purl.obolibrary.org/obo/DOID_200	benign giant cell tumor	http://purl.obolibrary.org/obo/DOID_0060094	bone benign neoplasm		
http://purl.obolibrary.org/obo/DOID_6610	bone epithelioid hemangioma	http://purl.obolibrary.org/obo/DOID_0060094	bone benign neoplasm		
http://purl.obolibrary.org/obo/DOID_7017	lumbosacral lipoma	http://purl.obolibrary.org/obo/DOID_3315	lipoma		
http://purl.obolibrary.org/obo/DOID_8153	fibroosseous pseudotumor of digits	http://purl.obolibrary.org/obo/DOID_0060094	bone benign neoplasm		
http://purl.obolibrary.org/obo/DOID_277	chorioangioma	http://purl.obolibrary.org/obo/DOID_780	placenta disease		
http://purl.obolibrary.org/obo/DOID_461	muscle benign neoplasm	http://purl.obolibrary.org/obo/DOID_0080000	muscular disease		
http://purl.obolibrary.org/obo/DOID_4788	intracranial primitive neuroectodermal tumor	http://purl.obolibrary.org/obo/DOID_0060103	central nervous system embryonal tumor		
http://purl.obolibrary.org/obo/DOID_4790	medulloepithelioma	http://purl.obolibrary.org/obo/DOID_0060103	central nervous system embryonal tumor		
http://purl.obolibrary.org/obo/DOID_6112	cerebral meningioma	http://purl.obolibrary.org/obo/DOID_368	cerebrum cancer		
http://purl.obolibrary.org/obo/DOID_6944	vulvar seborrheic keratosis	http://purl.obolibrary.org/obo/DOID_6498	seborrheic keratosis		
http://purl.obolibrary.org/obo/DOID_1789	benign peritoneal mesothelioma	http://purl.obolibrary.org/obo/DOID_0060117	peritoneal benign neoplasm		
http://purl.obolibrary.org/obo/DOID_2701	nodular tenosynovitis	http://purl.obolibrary.org/obo/DOID_0060123	connective tissue benign neoplasm		
http://purl.obolibrary.org/obo/DOID_315	synovium neoplasm	http://purl.obolibrary.org/obo/DOID_0060123	connective tissue benign neoplasm		
http://purl.obolibrary.org/obo/DOID_4231	histiocytoma	http://purl.obolibrary.org/obo/DOID_0060123	connective tissue benign neoplasm		
http://purl.obolibrary.org/obo/DOID_8274	synovial angioma	http://purl.obolibrary.org/obo/DOID_255	hemangioma		
http://purl.obolibrary.org/obo/DOID_4260	gait apraxia	http://purl.obolibrary.org/obo/DOID_0060135	apraxia		
http://purl.obolibrary.org/obo/DOID_4627	ideomotor apraxia	http://purl.obolibrary.org/obo/DOID_0060135	apraxia		
http://purl.obolibrary.org/obo/DOID_9714	occlusion of gallbladder	http://purl.obolibrary.org/obo/DOID_0060262	gallbladder disease		
http://purl.obolibrary.org/obo/DOID_9717	hydrops of gallbladder	http://purl.obolibrary.org/obo/DOID_0060262	gallbladder disease		
http://purl.obolibrary.org/obo/DOID_4626	hydranencephaly	http://purl.obolibrary.org/obo/DOID_0060668	anencephaly		
http://purl.obolibrary.org/obo/DOID_9358	fibular collateral ligament bursitis	http://purl.obolibrary.org/obo/DOID_204	enthesopathy		
http://purl.obolibrary.org/obo/DOID_8303	congenital granular cell tumor	http://purl.obolibrary.org/obo/DOID_3350	mesenchymal cell neoplasm		
http://purl.obolibrary.org/obo/DOID_9827	radioulnar synostosis	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		
http://purl.obolibrary.org/obo/DOID_7479	duodenal somatostatinoma	http://purl.obolibrary.org/obo/DOID_10021	duodenum cancer		
http://purl.obolibrary.org/obo/DOID_9978	acute female pelvic peritonitis	http://purl.obolibrary.org/obo/DOID_1003	pelvic inflammatory disease		
http://purl.obolibrary.org/obo/DOID_472	subglottic angioma	http://purl.obolibrary.org/obo/DOID_255	hemangioma		
http://purl.obolibrary.org/obo/DOID_2283	keratopathy	http://purl.obolibrary.org/obo/DOID_10124	corneal disease		
http://purl.obolibrary.org/obo/DOID_5740	small intestinal vasoactive intestinal peptide producing tumor	http://purl.obolibrary.org/obo/DOID_10154	small intestine cancer		
http://purl.obolibrary.org/obo/DOID_7506	small intestinal L-cell glucagon-like peptide producing tumor	http://purl.obolibrary.org/obo/DOID_10154	small intestine cancer		
http://purl.obolibrary.org/obo/DOID_384	Wolff-Parkinson-White syndrome	http://purl.obolibrary.org/obo/DOID_10273	heart conduction disease		
http://purl.obolibrary.org/obo/DOID_2992	prostate neuroendocrine neoplasm	http://purl.obolibrary.org/obo/DOID_169	neuroendocrine tumor		
http://purl.obolibrary.org/obo/DOID_7141	prostate small cell carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		
http://purl.obolibrary.org/obo/DOID_4868	prostate adenoid cystic carcinoma	http://purl.obolibrary.org/obo/DOID_10286	prostate carcinoma		
http://purl.obolibrary.org/obo/DOID_9700	bacterial conjunctivitis	http://purl.obolibrary.org/obo/DOID_6195	conjunctivitis		
http://purl.obolibrary.org/obo/DOID_4716	malignant gastric germ cell tumor	http://purl.obolibrary.org/obo/DOID_10534	stomach cancer		
http://purl.obolibrary.org/obo/DOID_5280	gastric leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_10534	stomach cancer		
http://purl.obolibrary.org/obo/DOID_5579	gastric gastrinoma	http://purl.obolibrary.org/obo/DOID_10534	stomach cancer		
http://purl.obolibrary.org/obo/DOID_5700	gastric liposarcoma	http://purl.obolibrary.org/obo/DOID_10534	stomach cancer		
http://purl.obolibrary.org/obo/DOID_6700	gastric fundus carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		
http://purl.obolibrary.org/obo/DOID_6271	gastric cardia adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3717	gastric adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_4676	uremia	http://purl.obolibrary.org/obo/DOID_1074	kidney failure		
http://purl.obolibrary.org/obo/DOID_9893	periodontosis	http://purl.obolibrary.org/obo/DOID_1091	tooth disease		
http://purl.obolibrary.org/obo/DOID_4686	mucoepidermoid esophageal carcinoma	http://purl.obolibrary.org/obo/DOID_1107	esophageal carcinoma		
http://purl.obolibrary.org/obo/DOID_7134	esophagus small cell carcinoma	http://purl.obolibrary.org/obo/DOID_1107	esophageal carcinoma		
http://purl.obolibrary.org/obo/DOID_5276	esophagus leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_1114	esophagus sarcoma		
http://purl.obolibrary.org/obo/DOID_1907	malignant fibrous histiocytoma	http://purl.obolibrary.org/obo/DOID_1115	sarcoma		
http://purl.obolibrary.org/obo/DOID_7614	meninges sarcoma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_6603	Kummell's disease	http://purl.obolibrary.org/obo/DOID_1123	spondyloarthropathy		
http://purl.obolibrary.org/obo/DOID_6643	Baastrup's syndrome	http://purl.obolibrary.org/obo/DOID_1123	spondyloarthropathy		
http://purl.obolibrary.org/obo/DOID_8151	appendiceal L-cell glucagon-like peptide producing tumor	http://purl.obolibrary.org/obo/DOID_11239	appendix cancer		
http://purl.obolibrary.org/obo/DOID_9771	transient neonatal thrombocytopenia	http://purl.obolibrary.org/obo/DOID_11245	transient neonatal neutropenia		
http://purl.obolibrary.org/obo/DOID_1770	toxic megacolon	http://purl.obolibrary.org/obo/DOID_11372	megacolon		
http://purl.obolibrary.org/obo/DOID_9768	heart aneurysm	http://purl.obolibrary.org/obo/DOID_114	heart disease		
http://purl.obolibrary.org/obo/DOID_3809	epidural spinal canal meningioma	http://purl.obolibrary.org/obo/DOID_1140	spinal canal and spinal cord meningioma		
http://purl.obolibrary.org/obo/DOID_6103	thoracic spinal canal and spinal cord meningioma	http://purl.obolibrary.org/obo/DOID_1140	spinal canal and spinal cord meningioma		
http://purl.obolibrary.org/obo/DOID_7515	lumbar spinal canal and spinal cord meningioma	http://purl.obolibrary.org/obo/DOID_1140	spinal canal and spinal cord meningioma		
http://purl.obolibrary.org/obo/DOID_7646	multiple spinal canal and spinal cord meningioma	http://purl.obolibrary.org/obo/DOID_1140	spinal canal and spinal cord meningioma		
http://purl.obolibrary.org/obo/DOID_7824	spinal multifocal clear cell meningioma	http://purl.obolibrary.org/obo/DOID_1140	spinal canal and spinal cord meningioma		
http://purl.obolibrary.org/obo/DOID_7915	cervical spinal canal and spinal cord meningioma	http://purl.obolibrary.org/obo/DOID_1140	spinal canal and spinal cord meningioma		
http://purl.obolibrary.org/obo/DOID_8203	sacral spinal canal and spinal cord meningioma	http://purl.obolibrary.org/obo/DOID_1140	spinal canal and spinal cord meningioma		
http://purl.obolibrary.org/obo/DOID_559	acute pyelonephritis	http://purl.obolibrary.org/obo/DOID_11400	pyelonephritis		
http://purl.obolibrary.org/obo/DOID_7764	subglottis carcinoma	http://purl.obolibrary.org/obo/DOID_11472	subglottis cancer		
http://purl.obolibrary.org/obo/DOID_4699	epicardium cancer	http://purl.obolibrary.org/obo/DOID_116	pericardium cancer		
http://purl.obolibrary.org/obo/DOID_9299	myocardium cancer	http://purl.obolibrary.org/obo/DOID_117	heart cancer		
http://purl.obolibrary.org/obo/DOID_6886	ureter small cell carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		
http://purl.obolibrary.org/obo/DOID_1802	mononeuritis	http://purl.obolibrary.org/obo/DOID_1188	mononeuropathy		
http://purl.obolibrary.org/obo/DOID_4201	peroneal neuropathy	http://purl.obolibrary.org/obo/DOID_1188	mononeuropathy		
http://purl.obolibrary.org/obo/DOID_4613	ulnar neuropathy	http://purl.obolibrary.org/obo/DOID_1188	mononeuropathy		
http://purl.obolibrary.org/obo/DOID_6936	ureter urothelial papilloma	http://purl.obolibrary.org/obo/DOID_11885	ureteral benign neoplasm		
http://purl.obolibrary.org/obo/DOID_4693	nerve plexus neoplasm	http://purl.obolibrary.org/obo/DOID_1192	peripheral nervous system neoplasm		
http://purl.obolibrary.org/obo/DOID_4698	nerve root neoplasm	http://purl.obolibrary.org/obo/DOID_1192	peripheral nervous system neoplasm		
http://purl.obolibrary.org/obo/DOID_6297	viral esophagitis	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		
http://purl.obolibrary.org/obo/DOID_3202	neurilemmoma of the fifth cranial nerve	http://purl.obolibrary.org/obo/DOID_1201	trigeminal nerve neoplasm		
http://purl.obolibrary.org/obo/DOID_2782	rectosigmoid junction cancer	http://purl.obolibrary.org/obo/DOID_12192	sigmoid colon cancer		
http://purl.obolibrary.org/obo/DOID_5339	cyclic hematopoiesis	http://purl.obolibrary.org/obo/DOID_1227	neutropenia		
http://purl.obolibrary.org/obo/DOID_5284	retroperitoneal leiomyosarcoma	http://purl.obolibrary.org/obo/DOID_12341	retroperitoneal sarcoma		
http://purl.obolibrary.org/obo/DOID_2879	nodular degeneration of cornea	http://purl.obolibrary.org/obo/DOID_1237	corneal degeneration		
http://purl.obolibrary.org/obo/DOID_2460	anterior dislocation of lens	http://purl.obolibrary.org/obo/DOID_1242	globe disease		
http://purl.obolibrary.org/obo/DOID_2286	capillary lymphangioma	http://purl.obolibrary.org/obo/DOID_1475	lymphangioma		
http://purl.obolibrary.org/obo/DOID_2493	gastric antral vascular ectasia	http://purl.obolibrary.org/obo/DOID_1271	capillary disease		
http://purl.obolibrary.org/obo/DOID_6438	malignant choroid melanoma	http://purl.obolibrary.org/obo/DOID_12759	choroid cancer		
http://purl.obolibrary.org/obo/DOID_9307	rectal prolapse	http://purl.obolibrary.org/obo/DOID_1285	rectal disease		
http://purl.obolibrary.org/obo/DOID_3688	plexopathy	http://purl.obolibrary.org/obo/DOID_1289	neurodegenerative disease		
http://purl.obolibrary.org/obo/DOID_9277	primary cerebellar degeneration	http://purl.obolibrary.org/obo/DOID_1289	neurodegenerative disease		
http://purl.obolibrary.org/obo/DOID_9173	submandibular gland cancer	http://purl.obolibrary.org/obo/DOID_8850	salivary gland cancer		
http://purl.obolibrary.org/obo/DOID_3924	main bronchus cancer	http://purl.obolibrary.org/obo/DOID_1324	lung cancer		
http://purl.obolibrary.org/obo/DOID_5410	pulmonary neuroendocrine tumor	http://purl.obolibrary.org/obo/DOID_1324	lung cancer		
http://purl.obolibrary.org/obo/DOID_5764	lung meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_7696	lung hilum cancer	http://purl.obolibrary.org/obo/DOID_1324	lung cancer		
http://purl.obolibrary.org/obo/DOID_8007	Pancoast tumor	http://purl.obolibrary.org/obo/DOID_1324	lung cancer		
http://purl.obolibrary.org/obo/DOID_7763	carcinoma of supraglottis	http://purl.obolibrary.org/obo/DOID_13476	supraglottis cancer		
http://purl.obolibrary.org/obo/DOID_8133	epiglottis cancer	http://purl.obolibrary.org/obo/DOID_13476	supraglottis cancer		
http://purl.obolibrary.org/obo/DOID_3216	jejunal somatostatinoma	http://purl.obolibrary.org/obo/DOID_13499	jejunal cancer		
http://purl.obolibrary.org/obo/DOID_6947	sphenoidal sinus benign neoplasm	http://purl.obolibrary.org/obo/DOID_1350	paranasal sinus benign neoplasm		
http://purl.obolibrary.org/obo/DOID_4003	Schneiderian carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		
http://purl.obolibrary.org/obo/DOID_7198	maxillary sinus adenoid cystic carcinoma	http://purl.obolibrary.org/obo/DOID_1357	maxillary sinus cancer		
http://purl.obolibrary.org/obo/DOID_7684	maxillary sinus adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_7868	maxillary sinus inverted papilloma	http://purl.obolibrary.org/obo/DOID_2615	papilloma		
http://purl.obolibrary.org/obo/DOID_8093	maxillary sinus Schneiderian papilloma	http://purl.obolibrary.org/obo/DOID_1358	maxillary sinus benign neoplasm		
http://purl.obolibrary.org/obo/DOID_6054	frontal sinus Schneiderian papilloma	http://purl.obolibrary.org/obo/DOID_1361	frontal sinus benign neoplasm		
http://purl.obolibrary.org/obo/DOID_8060	frontal sinus inverted papilloma	http://purl.obolibrary.org/obo/DOID_2615	papilloma		
http://purl.obolibrary.org/obo/DOID_2764	ethmoid sinus adenoid cystic carcinoma	http://purl.obolibrary.org/obo/DOID_1363	ethmoid sinus cancer		
http://purl.obolibrary.org/obo/DOID_6559	ethmoid sinus Schneiderian papilloma	http://purl.obolibrary.org/obo/DOID_1364	ethmoidal sinus benign neoplasm		
http://purl.obolibrary.org/obo/DOID_6562	ethmoid sinus inverted papilloma	http://purl.obolibrary.org/obo/DOID_2615	papilloma		
http://purl.obolibrary.org/obo/DOID_6854	ethmoid sinus ectopic meningioma	http://purl.obolibrary.org/obo/DOID_1364	ethmoidal sinus benign neoplasm		
http://purl.obolibrary.org/obo/DOID_5166	endometrial stromal tumor	http://purl.obolibrary.org/obo/DOID_1380	endometrial cancer		
http://purl.obolibrary.org/obo/DOID_2095	sweat gland cancer	http://purl.obolibrary.org/obo/DOID_4159	skin cancer		
http://purl.obolibrary.org/obo/DOID_5214	demyelinating polyneuropathy	http://purl.obolibrary.org/obo/DOID_1389	polyneuropathy		
http://purl.obolibrary.org/obo/DOID_5221	chronic polyneuropathy	http://purl.obolibrary.org/obo/DOID_1389	polyneuropathy		
http://purl.obolibrary.org/obo/DOID_5678	nerve fibre bundle defect	http://purl.obolibrary.org/obo/DOID_5679	retinal disease		
http://purl.obolibrary.org/obo/DOID_9369	orbital plasma cell granuloma	http://purl.obolibrary.org/obo/DOID_1397	chronic orbital inflammation		
http://purl.obolibrary.org/obo/DOID_1822	secondary lacrimal atrophy	http://purl.obolibrary.org/obo/DOID_1400	lacrimal apparatus disease		
http://purl.obolibrary.org/obo/DOID_3096	stenosis of lacrimal sac	http://purl.obolibrary.org/obo/DOID_1400	lacrimal apparatus disease		
http://purl.obolibrary.org/obo/DOID_6970	acute inflammation of lacrimal passage	http://purl.obolibrary.org/obo/DOID_1400	lacrimal apparatus disease		
http://purl.obolibrary.org/obo/DOID_7284	Skene gland carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		
http://purl.obolibrary.org/obo/DOID_980	choroidal sclerosis	http://purl.obolibrary.org/obo/DOID_9799	eye degenerative disease		
http://purl.obolibrary.org/obo/DOID_9821	choroideremia	http://purl.obolibrary.org/obo/DOID_1417	choroid disease		
http://purl.obolibrary.org/obo/DOID_2181	post-surgical hypoinsulinemia	http://purl.obolibrary.org/obo/DOID_1428	endocrine pancreas disease		
http://purl.obolibrary.org/obo/DOID_6977	pancreatic cholera	http://purl.obolibrary.org/obo/DOID_1428	endocrine pancreas disease		
http://purl.obolibrary.org/obo/DOID_2367	neuroaxonal dystrophy	http://purl.obolibrary.org/obo/DOID_1443	cerebral degeneration		
http://purl.obolibrary.org/obo/DOID_5083	iodine hypothyroidism	http://purl.obolibrary.org/obo/DOID_1459	hypothyroidism		
http://purl.obolibrary.org/obo/DOID_3081	cystic lymphangioma	http://purl.obolibrary.org/obo/DOID_1475	lymphangioma		
http://purl.obolibrary.org/obo/DOID_3671	pericoronitis	http://purl.obolibrary.org/obo/DOID_1483	gingival disease		
http://purl.obolibrary.org/obo/DOID_5223	infertility	http://purl.obolibrary.org/obo/DOID_15	reproductive system disease		
http://purl.obolibrary.org/obo/DOID_2712	phimosis	http://purl.obolibrary.org/obo/DOID_1529	penile disease		
http://purl.obolibrary.org/obo/DOID_8616	Peyronie's disease	http://purl.obolibrary.org/obo/DOID_1529	penile disease		
http://purl.obolibrary.org/obo/DOID_8738	leukoplakia of penis	http://purl.obolibrary.org/obo/DOID_1529	penile disease		
http://purl.obolibrary.org/obo/DOID_2996	mixed germ cell-sex cord neoplasm	http://purl.obolibrary.org/obo/DOID_154	mixed cell type cancer		
http://purl.obolibrary.org/obo/DOID_5088	mixed epithelial stromal tumour	http://purl.obolibrary.org/obo/DOID_154	mixed cell type cancer		
http://purl.obolibrary.org/obo/DOID_4637	cervical adenitis	http://purl.obolibrary.org/obo/DOID_1602	lymphadenitis		
http://purl.obolibrary.org/obo/DOID_4638	postauricular lymphadenitis	http://purl.obolibrary.org/obo/DOID_1602	lymphadenitis		
http://purl.obolibrary.org/obo/DOID_4639	suppurative lymphadenitis	http://purl.obolibrary.org/obo/DOID_1602	lymphadenitis		
http://purl.obolibrary.org/obo/DOID_4640	axillary adenitis	http://purl.obolibrary.org/obo/DOID_1602	lymphadenitis		
http://purl.obolibrary.org/obo/DOID_2734	keratosis follicularis	http://purl.obolibrary.org/obo/DOID_161	keratosis		
http://purl.obolibrary.org/obo/DOID_3805	porokeratosis	http://purl.obolibrary.org/obo/DOID_161	keratosis		
http://purl.obolibrary.org/obo/DOID_8225	microscopic breast papilloma	http://purl.obolibrary.org/obo/DOID_1626	breast duct papilloma		
http://purl.obolibrary.org/obo/DOID_6406	double outlet right ventricle	http://purl.obolibrary.org/obo/DOID_1657	ventricular septal defect		
http://purl.obolibrary.org/obo/DOID_3843	diencephalic neoplasm	http://purl.obolibrary.org/obo/DOID_1659	supratentorial cancer		
http://purl.obolibrary.org/obo/DOID_4791	supratentorial primitive neuroectodermal tumor	http://purl.obolibrary.org/obo/DOID_1659	supratentorial cancer		
http://purl.obolibrary.org/obo/DOID_7502	childhood supratentorial ependymoma	http://purl.obolibrary.org/obo/DOID_1659	supratentorial cancer		
http://purl.obolibrary.org/obo/DOID_5341	pineal region yolk sac tumor	http://purl.obolibrary.org/obo/DOID_1660	malignant pineal area germ cell neoplasm		
http://purl.obolibrary.org/obo/DOID_5510	pineal dysgerminoma	http://purl.obolibrary.org/obo/DOID_1660	malignant pineal area germ cell neoplasm		
http://purl.obolibrary.org/obo/DOID_5553	pineal region choriocarcinoma	http://purl.obolibrary.org/obo/DOID_1660	malignant pineal area germ cell neoplasm		
http://purl.obolibrary.org/obo/DOID_6856	pineal region teratoma	http://purl.obolibrary.org/obo/DOID_1660	malignant pineal area germ cell neoplasm		
http://purl.obolibrary.org/obo/DOID_7428	pineal region germinoma	http://purl.obolibrary.org/obo/DOID_1660	malignant pineal area germ cell neoplasm		
http://purl.obolibrary.org/obo/DOID_5030	pineal parenchymal tumor of intermediate differentiation	http://purl.obolibrary.org/obo/DOID_1664	pineoblastoma		
http://purl.obolibrary.org/obo/DOID_7127	radiation cystitis	http://purl.obolibrary.org/obo/DOID_1679	cystitis		
http://purl.obolibrary.org/obo/DOID_2392	glandular cystitis	http://purl.obolibrary.org/obo/DOID_1680	chronic cystitis		
http://purl.obolibrary.org/obo/DOID_6419	tetralogy of Fallot	http://purl.obolibrary.org/obo/DOID_1682	congenital heart disease		
http://purl.obolibrary.org/obo/DOID_9565	dextrocardia	http://purl.obolibrary.org/obo/DOID_1682	congenital heart disease		
http://purl.obolibrary.org/obo/DOID_4430	somatostatinoma	http://purl.obolibrary.org/obo/DOID_169	neuroendocrine tumor		
http://purl.obolibrary.org/obo/DOID_5574	VIPoma	http://purl.obolibrary.org/obo/DOID_169	neuroendocrine tumor		
http://purl.obolibrary.org/obo/DOID_6872	spinal cord primitive neuroectodermal neoplasm	http://purl.obolibrary.org/obo/DOID_5612	spinal cancer		
http://purl.obolibrary.org/obo/DOID_2450	central retinal vein occlusion	http://purl.obolibrary.org/obo/DOID_866	vein disease		
http://purl.obolibrary.org/obo/DOID_2079	eccrine mixed tumor of skin	http://purl.obolibrary.org/obo/DOID_173	eccrine sweat gland neoplasm		
http://purl.obolibrary.org/obo/DOID_5442	eccrine acrospiroma	http://purl.obolibrary.org/obo/DOID_173	eccrine sweat gland neoplasm		
http://purl.obolibrary.org/obo/DOID_4321	large cell acanthoma	http://purl.obolibrary.org/obo/DOID_174	acanthoma		
http://purl.obolibrary.org/obo/DOID_4322	pilar sheath acanthoma	http://purl.obolibrary.org/obo/DOID_174	acanthoma		
http://purl.obolibrary.org/obo/DOID_4323	epidermolytic acanthoma	http://purl.obolibrary.org/obo/DOID_174	acanthoma		
http://purl.obolibrary.org/obo/DOID_4324	acantholytic acanthoma	http://purl.obolibrary.org/obo/DOID_174	acanthoma		
http://purl.obolibrary.org/obo/DOID_7049	basaloid squamous cell skin carcinoma	http://purl.obolibrary.org/obo/DOID_4159	skin cancer		
http://purl.obolibrary.org/obo/DOID_7051	esophageal basaloid squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_5041	esophageal cancer		
http://purl.obolibrary.org/obo/DOID_3316	perivascular tumor	http://purl.obolibrary.org/obo/DOID_201	connective tissue cancer		
http://purl.obolibrary.org/obo/DOID_1757	facial hemiatrophy	http://purl.obolibrary.org/obo/DOID_1756	facial nerve disease		
http://purl.obolibrary.org/obo/DOID_1761	Melkersson-Rosenthal syndrome	http://purl.obolibrary.org/obo/DOID_1756	facial nerve disease		
http://purl.obolibrary.org/obo/DOID_1869	chronic rheumatic pericarditis	http://purl.obolibrary.org/obo/DOID_1787	pericarditis		
http://purl.obolibrary.org/obo/DOID_4734	calciphylaxis	http://purl.obolibrary.org/obo/DOID_182	calcinosis		
http://purl.obolibrary.org/obo/DOID_1824	status epilepticus	http://purl.obolibrary.org/obo/DOID_1826	epilepsy		
http://purl.obolibrary.org/obo/DOID_1863	skull cancer	http://purl.obolibrary.org/obo/DOID_184	bone cancer		
http://purl.obolibrary.org/obo/DOID_3381	liposarcoma of bone	http://purl.obolibrary.org/obo/DOID_184	bone cancer		
http://purl.obolibrary.org/obo/DOID_1998	Lutembacher's syndrome	http://purl.obolibrary.org/obo/DOID_1882	atrial heart septal defect		
http://purl.obolibrary.org/obo/DOID_705	Leber hereditary optic neuropathy	http://purl.obolibrary.org/obo/DOID_1891	optic nerve disease		
http://purl.obolibrary.org/obo/DOID_4360	epithelioid cell melanoma	http://purl.obolibrary.org/obo/DOID_1909	melanoma		
http://purl.obolibrary.org/obo/DOID_6846	familial melanoma	http://purl.obolibrary.org/obo/DOID_1909	melanoma		
http://purl.obolibrary.org/obo/DOID_7206	melanomatosis	http://purl.obolibrary.org/obo/DOID_1909	melanoma		
http://purl.obolibrary.org/obo/DOID_8167	gallbladder melanoma	http://purl.obolibrary.org/obo/DOID_3121	gallbladder cancer		
http://purl.obolibrary.org/obo/DOID_3763	hermaphroditism	http://purl.obolibrary.org/obo/DOID_1923	disorder of sexual development		
http://purl.obolibrary.org/obo/DOID_4671	freemartinism	http://purl.obolibrary.org/obo/DOID_1923	disorder of sexual development		
http://purl.obolibrary.org/obo/DOID_2006	preretinal fibrosis	http://purl.obolibrary.org/obo/DOID_2007	degeneration of macula and posterior pole		
http://purl.obolibrary.org/obo/DOID_9867	toxic maculopathy	http://purl.obolibrary.org/obo/DOID_2007	degeneration of macula and posterior pole		
http://purl.obolibrary.org/obo/DOID_2668	mesenchymoma	http://purl.obolibrary.org/obo/DOID_201	connective tissue cancer		
http://purl.obolibrary.org/obo/DOID_2705	malignant giant cell tumor	http://purl.obolibrary.org/obo/DOID_201	connective tissue cancer		
http://purl.obolibrary.org/obo/DOID_2706	synovium cancer	http://purl.obolibrary.org/obo/DOID_201	connective tissue cancer		
http://purl.obolibrary.org/obo/DOID_3352	malignant fibrous histiocytoma of bone	http://purl.obolibrary.org/obo/DOID_201	connective tissue cancer		
http://purl.obolibrary.org/obo/DOID_4136	myxosarcoma	http://purl.obolibrary.org/obo/DOID_201	connective tissue cancer		
http://purl.obolibrary.org/obo/DOID_6333	adult intracranial malignant hemangiopericytoma	http://purl.obolibrary.org/obo/DOID_201	connective tissue cancer		
http://purl.obolibrary.org/obo/DOID_693	dental enamel hypoplasia	http://purl.obolibrary.org/obo/DOID_214	teeth hard tissue disease		
http://purl.obolibrary.org/obo/DOID_698	dentin sensitivity	http://purl.obolibrary.org/obo/DOID_214	teeth hard tissue disease		
http://purl.obolibrary.org/obo/DOID_217	enamel caries	http://purl.obolibrary.org/obo/DOID_216	dental caries		
http://purl.obolibrary.org/obo/DOID_9574	choanal atresia	http://purl.obolibrary.org/obo/DOID_2163	nasal cavity disease		
http://purl.obolibrary.org/obo/DOID_218	ascending colon cancer	http://purl.obolibrary.org/obo/DOID_219	colon cancer		
http://purl.obolibrary.org/obo/DOID_261	transverse colon cancer	http://purl.obolibrary.org/obo/DOID_219	colon cancer		
http://purl.obolibrary.org/obo/DOID_6727	colon small cell carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		
http://purl.obolibrary.org/obo/DOID_7401	colonic L-cell glucagon-like peptide producing tumor	http://purl.obolibrary.org/obo/DOID_219	colon cancer		
http://purl.obolibrary.org/obo/DOID_484	vascular hemostatic disease	http://purl.obolibrary.org/obo/DOID_2213	hemorrhagic disease		
http://purl.obolibrary.org/obo/DOID_2223	platelet storage pool deficiency	http://purl.obolibrary.org/obo/DOID_2218	blood platelet disease		
http://purl.obolibrary.org/obo/DOID_3327	partial motor epilepsy	http://purl.obolibrary.org/obo/DOID_2234	focal epilepsy		
http://purl.obolibrary.org/obo/DOID_3330	partial sensory epilepsy	http://purl.obolibrary.org/obo/DOID_2234	focal epilepsy		
http://purl.obolibrary.org/obo/DOID_5129	simple partial epilepsy	http://purl.obolibrary.org/obo/DOID_2234	focal epilepsy		
http://purl.obolibrary.org/obo/DOID_2044	drug-induced hepatitis	http://purl.obolibrary.org/obo/DOID_2237	hepatitis		
http://purl.obolibrary.org/obo/DOID_2239	granulomatous hepatitis	http://purl.obolibrary.org/obo/DOID_2237	hepatitis		
http://purl.obolibrary.org/obo/DOID_9892	median arcuate ligament syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		
http://purl.obolibrary.org/obo/DOID_2251	hypertrophic elongation of cervix	http://purl.obolibrary.org/obo/DOID_2253	cervix disease		
http://purl.obolibrary.org/obo/DOID_727	premenstrual tension	http://purl.obolibrary.org/obo/DOID_229	female reproductive system disease		
http://purl.obolibrary.org/obo/DOID_7518	inhibited female orgasm	http://purl.obolibrary.org/obo/DOID_229	female reproductive system disease		
http://purl.obolibrary.org/obo/DOID_318	progressive muscular atrophy	http://purl.obolibrary.org/obo/DOID_231	motor neuron disease		
http://purl.obolibrary.org/obo/DOID_681	progressive bulbar palsy	http://purl.obolibrary.org/obo/DOID_231	motor neuron disease		
http://purl.obolibrary.org/obo/DOID_683	motor neuritis	http://purl.obolibrary.org/obo/DOID_231	motor neuron disease		
http://purl.obolibrary.org/obo/DOID_2344	polyclonal hypergammaglobulinemia	http://purl.obolibrary.org/obo/DOID_2345	plasma protein metabolism disease		
http://purl.obolibrary.org/obo/DOID_2346	monoclonal paraproteinemia	http://purl.obolibrary.org/obo/DOID_2345	plasma protein metabolism disease		
http://purl.obolibrary.org/obo/DOID_9080	macroglobulinemia	http://purl.obolibrary.org/obo/DOID_2345	plasma protein metabolism disease		
http://purl.obolibrary.org/obo/DOID_3669	intermittent claudication	http://purl.obolibrary.org/obo/DOID_2349	arteriosclerosis		
http://purl.obolibrary.org/obo/DOID_5160	arteriosclerosis obliterans	http://purl.obolibrary.org/obo/DOID_2349	arteriosclerosis		
http://purl.obolibrary.org/obo/DOID_5161	Monckeberg arteriosclerosis	http://purl.obolibrary.org/obo/DOID_2349	arteriosclerosis		
http://purl.obolibrary.org/obo/DOID_1896	sigmoid neoplasm	http://purl.obolibrary.org/obo/DOID_235	colonic benign neoplasm		
http://purl.obolibrary.org/obo/DOID_4118	colon neuroendocrine neoplasm	http://purl.obolibrary.org/obo/DOID_235	colonic benign neoplasm		
http://purl.obolibrary.org/obo/DOID_2972	renal artery obstruction	http://purl.obolibrary.org/obo/DOID_2388	renal artery disease		
http://purl.obolibrary.org/obo/DOID_3478	iris cancer	http://purl.obolibrary.org/obo/DOID_3479	uveal cancer		
http://purl.obolibrary.org/obo/DOID_7736	retinal telangiectasia	http://purl.obolibrary.org/obo/DOID_2462	retinal vascular disease		
http://purl.obolibrary.org/obo/DOID_2474	vernal conjunctivitis	http://purl.obolibrary.org/obo/DOID_2475	chronic conjunctivitis		
http://purl.obolibrary.org/obo/DOID_9512	simple chronic conjunctivitis	http://purl.obolibrary.org/obo/DOID_2475	chronic conjunctivitis		
http://purl.obolibrary.org/obo/DOID_2497	enamel erosion	http://purl.obolibrary.org/obo/DOID_2498	tooth erosion		
http://purl.obolibrary.org/obo/DOID_2518	orchitis	http://purl.obolibrary.org/obo/DOID_2519	testicular disease		
http://purl.obolibrary.org/obo/DOID_3089	granulomatous orchitis	http://purl.obolibrary.org/obo/DOID_2519	testicular disease		
http://purl.obolibrary.org/obo/DOID_5104	testicular infarct	http://purl.obolibrary.org/obo/DOID_2519	testicular disease		
http://purl.obolibrary.org/obo/DOID_2530	splenic abscess	http://purl.obolibrary.org/obo/DOID_2529	splenic disease		
http://purl.obolibrary.org/obo/DOID_2533	splenic infarction	http://purl.obolibrary.org/obo/DOID_2529	splenic disease		
http://purl.obolibrary.org/obo/DOID_256	hemangioma of spleen	http://purl.obolibrary.org/obo/DOID_2529	splenic disease		
http://purl.obolibrary.org/obo/DOID_6376	hypersplenism	http://purl.obolibrary.org/obo/DOID_2529	splenic disease		
http://purl.obolibrary.org/obo/DOID_8683	myeloid sarcoma	http://purl.obolibrary.org/obo/DOID_2531	hematologic cancer		
http://purl.obolibrary.org/obo/DOID_2536	chronic inflammatory demyelinating polyneuritis	http://purl.obolibrary.org/obo/DOID_2537	inflammatory and toxic neuropathy		
http://purl.obolibrary.org/obo/DOID_8681	paraneoplastic polyneuropathy	http://purl.obolibrary.org/obo/DOID_2537	inflammatory and toxic neuropathy		
http://purl.obolibrary.org/obo/DOID_2517	intracranial structure hemangioma	http://purl.obolibrary.org/obo/DOID_255	hemangioma		
http://purl.obolibrary.org/obo/DOID_254	hemangioma of intra-abdominal structure	http://purl.obolibrary.org/obo/DOID_255	hemangioma		
http://purl.obolibrary.org/obo/DOID_271	hemangioma of liver	http://purl.obolibrary.org/obo/DOID_916	liver benign neoplasm		
http://purl.obolibrary.org/obo/DOID_467	venous hemangioma	http://purl.obolibrary.org/obo/DOID_255	hemangioma		
http://purl.obolibrary.org/obo/DOID_469	deep angioma	http://purl.obolibrary.org/obo/DOID_255	hemangioma		
http://purl.obolibrary.org/obo/DOID_482	hemangioma of peripheral nerve	http://purl.obolibrary.org/obo/DOID_0080320	peripheral nervous system benign neoplasm		
http://purl.obolibrary.org/obo/DOID_486	glomeruloid hemangioma	http://purl.obolibrary.org/obo/DOID_255	hemangioma		
http://purl.obolibrary.org/obo/DOID_492	acquired hemangioma	http://purl.obolibrary.org/obo/DOID_255	hemangioma		
http://purl.obolibrary.org/obo/DOID_495	sclerosing hemangioma	http://purl.obolibrary.org/obo/DOID_255	hemangioma		
http://purl.obolibrary.org/obo/DOID_496	spindle cell hemangioma	http://purl.obolibrary.org/obo/DOID_255	hemangioma		
http://purl.obolibrary.org/obo/DOID_505	hobnail hemangioma	http://purl.obolibrary.org/obo/DOID_255	hemangioma		
http://purl.obolibrary.org/obo/DOID_663	scrotal angioma	http://purl.obolibrary.org/obo/DOID_3165	skin benign neoplasm		
http://purl.obolibrary.org/obo/DOID_625	transient hypogammaglobulinemia	http://purl.obolibrary.org/obo/DOID_2583	agammaglobulinemia		
http://purl.obolibrary.org/obo/DOID_2595	glottis cancer	http://purl.obolibrary.org/obo/DOID_2596	larynx cancer		
http://purl.obolibrary.org/obo/DOID_7144	laryngeal small cell carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		
http://purl.obolibrary.org/obo/DOID_2597	glottis neoplasm	http://purl.obolibrary.org/obo/DOID_2598	laryngeal benign neoplasm		
http://purl.obolibrary.org/obo/DOID_5457	laryngeal neuroendocrine tumor	http://purl.obolibrary.org/obo/DOID_2598	laryngeal benign neoplasm		
http://purl.obolibrary.org/obo/DOID_8002	supraglottis neoplasm	http://purl.obolibrary.org/obo/DOID_2598	laryngeal benign neoplasm		
http://purl.obolibrary.org/obo/DOID_2018	hyperinsulinism	http://purl.obolibrary.org/obo/DOID_4194	glucose metabolism disease		
http://purl.obolibrary.org/obo/DOID_2601	juxtacortical chondroma	http://purl.obolibrary.org/obo/DOID_2602	chondroma		
http://purl.obolibrary.org/obo/DOID_2614	serous surface papilloma	http://purl.obolibrary.org/obo/DOID_2615	papilloma		
http://purl.obolibrary.org/obo/DOID_2626	choroid plexus papilloma	http://purl.obolibrary.org/obo/DOID_60007	cerebrovascular benign neoplasm		
http://purl.obolibrary.org/obo/DOID_2670	transitional papilloma	http://purl.obolibrary.org/obo/DOID_2615	papilloma		
http://purl.obolibrary.org/obo/DOID_3177	verrucous papilloma	http://purl.obolibrary.org/obo/DOID_2615	papilloma		
http://purl.obolibrary.org/obo/DOID_3179	inverted papilloma	http://purl.obolibrary.org/obo/DOID_2615	papilloma		
http://purl.obolibrary.org/obo/DOID_3544	atypical choroid plexus papilloma	http://purl.obolibrary.org/obo/DOID_60007	cerebrovascular benign neoplasm		
http://purl.obolibrary.org/obo/DOID_5433	urinary tract papillary transitional cell benign neoplasm	http://purl.obolibrary.org/obo/DOID_731	urinary system benign neoplasm		
http://purl.obolibrary.org/obo/DOID_2065	syringoma	http://purl.obolibrary.org/obo/DOID_2664	sweat gland benign neoplasm		
http://purl.obolibrary.org/obo/DOID_5876	apocrine sweat gland neoplasm	http://purl.obolibrary.org/obo/DOID_2664	sweat gland benign neoplasm		
http://purl.obolibrary.org/obo/DOID_2702	pigmented villonodular synovitis	http://purl.obolibrary.org/obo/DOID_2703	synovitis		
http://purl.obolibrary.org/obo/DOID_914	peliosis hepatis	http://purl.obolibrary.org/obo/DOID_272	hepatic vascular disease		
http://purl.obolibrary.org/obo/DOID_2773	contact dermatitis	http://purl.obolibrary.org/obo/DOID_2723	dermatitis		
http://purl.obolibrary.org/obo/DOID_3159	photosensitivity disease	http://purl.obolibrary.org/obo/DOID_2723	dermatitis		
http://purl.obolibrary.org/obo/DOID_3777	granuloma annulare	http://purl.obolibrary.org/obo/DOID_2723	dermatitis		
http://purl.obolibrary.org/obo/DOID_4397	granulomatous dermatitis	http://purl.obolibrary.org/obo/DOID_2723	dermatitis		
http://purl.obolibrary.org/obo/DOID_4398	pustulosis of palm and sole	http://purl.obolibrary.org/obo/DOID_2723	dermatitis		
http://purl.obolibrary.org/obo/DOID_4399	acneiform dermatitis	http://purl.obolibrary.org/obo/DOID_2723	dermatitis		
http://purl.obolibrary.org/obo/DOID_4400	dermatosis papulosa nigra	http://purl.obolibrary.org/obo/DOID_2723	dermatitis		
http://purl.obolibrary.org/obo/DOID_4406	spongiotic dermatitis	http://purl.obolibrary.org/obo/DOID_2723	dermatitis		
http://purl.obolibrary.org/obo/DOID_9165	neurotic excoriation	http://purl.obolibrary.org/obo/DOID_2723	dermatitis		
http://purl.obolibrary.org/obo/DOID_2743	pyeloureteritis cystica	http://purl.obolibrary.org/obo/DOID_2744	pyelitis		
http://purl.obolibrary.org/obo/DOID_9072	lethal midline granuloma	http://purl.obolibrary.org/obo/DOID_2825	nose disease		
http://purl.obolibrary.org/obo/DOID_2842	Jervell-Lange Nielsen syndrome	http://purl.obolibrary.org/obo/DOID_2843	long QT syndrome		
http://purl.obolibrary.org/obo/DOID_713	HCL-V	http://purl.obolibrary.org/obo/DOID_285	hairy cell leukemia		
http://purl.obolibrary.org/obo/DOID_2859	hemoglobin C disease	http://purl.obolibrary.org/obo/DOID_2860	hemoglobinopathy		
http://purl.obolibrary.org/obo/DOID_5378	hemoglobin D disease	http://purl.obolibrary.org/obo/DOID_2860	hemoglobinopathy		
http://purl.obolibrary.org/obo/DOID_5379	hemoglobin E disease	http://purl.obolibrary.org/obo/DOID_2860	hemoglobinopathy		
http://purl.obolibrary.org/obo/DOID_294	lacrimal gland cancer	http://purl.obolibrary.org/obo/DOID_292	lacrimal system cancer		
http://purl.obolibrary.org/obo/DOID_2920	membranoproliferative glomerulonephritis	http://purl.obolibrary.org/obo/DOID_2921	glomerulonephritis		
http://purl.obolibrary.org/obo/DOID_4776	rapidly progressive glomerulonephritis	http://purl.obolibrary.org/obo/DOID_2921	glomerulonephritis		
http://purl.obolibrary.org/obo/DOID_4777	exudative glomerulonephritis	http://purl.obolibrary.org/obo/DOID_2921	glomerulonephritis		
http://purl.obolibrary.org/obo/DOID_4778	proliferative glomerulonephritis	http://purl.obolibrary.org/obo/DOID_2921	glomerulonephritis		
http://purl.obolibrary.org/obo/DOID_4779	focal embolic glomerulonephritis	http://purl.obolibrary.org/obo/DOID_2921	glomerulonephritis		
http://purl.obolibrary.org/obo/DOID_4782	subacute glomerulonephritis	http://purl.obolibrary.org/obo/DOID_2921	glomerulonephritis		
http://purl.obolibrary.org/obo/DOID_4783	mesangial proliferative glomerulonephritis	http://purl.obolibrary.org/obo/DOID_2921	glomerulonephritis		
http://purl.obolibrary.org/obo/DOID_4784	immune-complex glomerulonephritis	http://purl.obolibrary.org/obo/DOID_2921	glomerulonephritis		
http://purl.obolibrary.org/obo/DOID_2951	motion sickness	http://purl.obolibrary.org/obo/DOID_2952	inner ear disease		
http://purl.obolibrary.org/obo/DOID_5463	cochlear disease	http://purl.obolibrary.org/obo/DOID_2952	inner ear disease		
http://purl.obolibrary.org/obo/DOID_9868	intestinal disaccharidase deficiency	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		
http://purl.obolibrary.org/obo/DOID_512	epididymal neoplasm	http://purl.obolibrary.org/obo/DOID_2998	testicular cancer		
http://purl.obolibrary.org/obo/DOID_7050	thymus basaloid carcinoma	http://purl.obolibrary.org/obo/DOID_3277	thymus cancer		
http://purl.obolibrary.org/obo/DOID_4848	cerebellar astrocytoma	http://purl.obolibrary.org/obo/DOID_4205	cerebellum cancer		
http://purl.obolibrary.org/obo/DOID_4858	pineal gland astrocytoma	http://purl.obolibrary.org/obo/DOID_5032	pineal gland cancer		
http://purl.obolibrary.org/obo/DOID_5076	mixed glioma	http://purl.obolibrary.org/obo/DOID_3070	high grade glioma		
http://purl.obolibrary.org/obo/DOID_5337	epulis	http://purl.obolibrary.org/obo/DOID_3086	gingival overgrowth		
http://purl.obolibrary.org/obo/DOID_5338	gingival hypertrophy	http://purl.obolibrary.org/obo/DOID_3086	gingival overgrowth		
http://purl.obolibrary.org/obo/DOID_2697	renal adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		
http://purl.obolibrary.org/obo/DOID_2698	nephrogenic adenofibroma	http://purl.obolibrary.org/obo/DOID_3116	kidney benign neoplasm		
http://purl.obolibrary.org/obo/DOID_5977	renal pelvis benign neoplasm	http://purl.obolibrary.org/obo/DOID_3116	kidney benign neoplasm		
http://purl.obolibrary.org/obo/DOID_6245	renal oncocytoma	http://purl.obolibrary.org/obo/DOID_3116	kidney benign neoplasm		
http://purl.obolibrary.org/obo/DOID_7334	nephrogenic adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		
http://purl.obolibrary.org/obo/DOID_8411	kidney angiomyolipoma	http://purl.obolibrary.org/obo/DOID_3116	kidney benign neoplasm		
http://purl.obolibrary.org/obo/DOID_9253	gastrointestinal stromal tumor	http://purl.obolibrary.org/obo/DOID_3119	gastrointestinal system cancer		
http://purl.obolibrary.org/obo/DOID_5150	neurofibroma of gallbladder	http://purl.obolibrary.org/obo/DOID_962	neurofibroma		
http://purl.obolibrary.org/obo/DOID_4551	anus benign neoplasm	http://purl.obolibrary.org/obo/DOID_4610	intestinal benign neoplasm		
http://purl.obolibrary.org/obo/DOID_3890	acute intermittent porphyria	http://purl.obolibrary.org/obo/DOID_3133	acute porphyria		
http://purl.obolibrary.org/obo/DOID_4346	variegate porphyria	http://purl.obolibrary.org/obo/DOID_3133	acute porphyria		
http://purl.obolibrary.org/obo/DOID_5230	hepatoerythropoietic porphyria	http://purl.obolibrary.org/obo/DOID_3133	acute porphyria		
http://purl.obolibrary.org/obo/DOID_3149	keratoacanthoma	http://purl.obolibrary.org/obo/DOID_3151	skin squamous cell carcinoma		
http://purl.obolibrary.org/obo/DOID_3751	plantar verrucous skin carcinoma	http://purl.obolibrary.org/obo/DOID_3151	skin squamous cell carcinoma		
http://purl.obolibrary.org/obo/DOID_5536	sarcomatoid squamous cell skin carcinoma	http://purl.obolibrary.org/obo/DOID_3151	skin squamous cell carcinoma		
http://purl.obolibrary.org/obo/DOID_7643	acantholytic squamous cell skin carcinoma	http://purl.obolibrary.org/obo/DOID_3151	skin squamous cell carcinoma		
http://purl.obolibrary.org/obo/DOID_8122	pseudovascular skin squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_3151	skin squamous cell carcinoma		
http://purl.obolibrary.org/obo/DOID_8288	clear cell squamous cell skin carcinoma	http://purl.obolibrary.org/obo/DOID_3151	skin squamous cell carcinoma		
http://purl.obolibrary.org/obo/DOID_3923	diffuse lipomatosis	http://purl.obolibrary.org/obo/DOID_3153	lipomatosis		
http://purl.obolibrary.org/obo/DOID_3925	steroid lipomatosis	http://purl.obolibrary.org/obo/DOID_3153	lipomatosis		
http://purl.obolibrary.org/obo/DOID_3926	mediastinal lipomatosis	http://purl.obolibrary.org/obo/DOID_3153	lipomatosis		
http://purl.obolibrary.org/obo/DOID_3927	pelvic lipomatosis	http://purl.obolibrary.org/obo/DOID_3153	lipomatosis		
http://purl.obolibrary.org/obo/DOID_2173	eyelid benign neoplasm	http://purl.obolibrary.org/obo/DOID_530	eyelid disease		
http://purl.obolibrary.org/obo/DOID_2410	skin granular cell tumor	http://purl.obolibrary.org/obo/DOID_3165	skin benign neoplasm		
http://purl.obolibrary.org/obo/DOID_2411	granular cell tumor	http://purl.obolibrary.org/obo/DOID_3165	skin benign neoplasm		
http://purl.obolibrary.org/obo/DOID_2425	cutaneous ganglioneuroma	http://purl.obolibrary.org/obo/DOID_3165	skin benign neoplasm		
http://purl.obolibrary.org/obo/DOID_2433	epidermal appendage tumor	http://purl.obolibrary.org/obo/DOID_3165	skin benign neoplasm		
http://purl.obolibrary.org/obo/DOID_2438	dermis tumor	http://purl.obolibrary.org/obo/DOID_3165	skin benign neoplasm		
http://purl.obolibrary.org/obo/DOID_2495	senile angioma	http://purl.obolibrary.org/obo/DOID_3165	skin benign neoplasm		
http://purl.obolibrary.org/obo/DOID_5375	hair follicle neoplasm	http://purl.obolibrary.org/obo/DOID_3165	skin benign neoplasm		
http://purl.obolibrary.org/obo/DOID_5759	sebaceous gland neoplasm	http://purl.obolibrary.org/obo/DOID_3165	skin benign neoplasm		
http://purl.obolibrary.org/obo/DOID_5949	angiokeratoma circumscriptum	http://purl.obolibrary.org/obo/DOID_3165	skin benign neoplasm		
http://purl.obolibrary.org/obo/DOID_664	angiokeratoma of Fordyce	http://purl.obolibrary.org/obo/DOID_3165	skin benign neoplasm		
http://purl.obolibrary.org/obo/DOID_7181	benign dermal neurilemmoma	http://purl.obolibrary.org/obo/DOID_3165	skin benign neoplasm		
http://purl.obolibrary.org/obo/DOID_3183	childhood oligodendroglioma	http://purl.obolibrary.org/obo/DOID_3181	oligodendroglioma		
http://purl.obolibrary.org/obo/DOID_3186	adult oligodendroglioma	http://purl.obolibrary.org/obo/DOID_3181	oligodendroglioma		
http://purl.obolibrary.org/obo/DOID_320	vascular myelopathy	http://purl.obolibrary.org/obo/DOID_319	spinal cord disease		
http://purl.obolibrary.org/obo/DOID_327	syringomyelia	http://purl.obolibrary.org/obo/DOID_319	spinal cord disease		
http://purl.obolibrary.org/obo/DOID_3203	macrocystic neurilemmoma	http://purl.obolibrary.org/obo/DOID_3192	neurilemmoma		
http://purl.obolibrary.org/obo/DOID_3205	melanotic neurilemmoma	http://purl.obolibrary.org/obo/DOID_3192	neurilemmoma		
http://purl.obolibrary.org/obo/DOID_3206	plexiform schwannoma	http://purl.obolibrary.org/obo/DOID_3192	neurilemmoma		
http://purl.obolibrary.org/obo/DOID_1811	reflex sympathetic dystrophy	http://purl.obolibrary.org/obo/DOID_3223	complex regional pain syndrome		
http://purl.obolibrary.org/obo/DOID_3222	causalgia	http://purl.obolibrary.org/obo/DOID_3223	complex regional pain syndrome		
http://purl.obolibrary.org/obo/DOID_3227	tracheal stenosis	http://purl.obolibrary.org/obo/DOID_3225	tracheal disease		
http://purl.obolibrary.org/obo/DOID_3255	botryoid rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_3246	embryonal rhabdomyosarcoma		
http://purl.obolibrary.org/obo/DOID_682	compartment syndrome	http://purl.obolibrary.org/obo/DOID_326	ischemia		
http://purl.obolibrary.org/obo/DOID_3230	high pressure neurological syndrome	http://purl.obolibrary.org/obo/DOID_331	central nervous system disease		
http://purl.obolibrary.org/obo/DOID_607	paraplegia	http://purl.obolibrary.org/obo/DOID_331	central nervous system disease		
http://purl.obolibrary.org/obo/DOID_640	encephalomyelitis	http://purl.obolibrary.org/obo/DOID_331	central nervous system disease		
http://purl.obolibrary.org/obo/DOID_7014	infiltrating lipoma	http://purl.obolibrary.org/obo/DOID_3315	lipoma		
http://purl.obolibrary.org/obo/DOID_3325	hyperglobulinemic purpura	http://purl.obolibrary.org/obo/DOID_3326	purpura		
http://purl.obolibrary.org/obo/DOID_2647	parachordoma	http://purl.obolibrary.org/obo/DOID_3350	mesenchymal cell neoplasm		
http://purl.obolibrary.org/obo/DOID_2685	ossifying fibromyxoid tumor	http://purl.obolibrary.org/obo/DOID_3350	mesenchymal cell neoplasm		
http://purl.obolibrary.org/obo/DOID_6755	amyloid tumor	http://purl.obolibrary.org/obo/DOID_3350	mesenchymal cell neoplasm		
http://purl.obolibrary.org/obo/DOID_8305	nonossifying fibromyxoid tumor	http://purl.obolibrary.org/obo/DOID_3350	mesenchymal cell neoplasm		
http://purl.obolibrary.org/obo/DOID_4545	mesenchymal chondrosarcoma	http://purl.obolibrary.org/obo/DOID_3371	chondrosarcoma		
http://purl.obolibrary.org/obo/DOID_5859	periosteal chondrosarcoma	http://purl.obolibrary.org/obo/DOID_3371	chondrosarcoma		
http://purl.obolibrary.org/obo/DOID_5861	myxoid chondrosarcoma	http://purl.obolibrary.org/obo/DOID_3371	chondrosarcoma		
http://purl.obolibrary.org/obo/DOID_5862	localized chondrosarcoma	http://purl.obolibrary.org/obo/DOID_3371	chondrosarcoma		
http://purl.obolibrary.org/obo/DOID_5866	juxtacortical chondrosarcoma	http://purl.obolibrary.org/obo/DOID_3371	chondrosarcoma		
http://purl.obolibrary.org/obo/DOID_5867	clear cell chondrosarcoma	http://purl.obolibrary.org/obo/DOID_3371	chondrosarcoma		
http://purl.obolibrary.org/obo/DOID_4248	coronary stenosis	http://purl.obolibrary.org/obo/DOID_3393	coronary artery disease		
http://purl.obolibrary.org/obo/DOID_8805	intermediate coronary syndrome	http://purl.obolibrary.org/obo/DOID_3393	coronary artery disease		
http://purl.obolibrary.org/obo/DOID_807	carotid artery occlusion	http://purl.obolibrary.org/obo/DOID_5976	occlusion precerebral artery		
http://purl.obolibrary.org/obo/DOID_9348	carotid artery dissection	http://purl.obolibrary.org/obo/DOID_3407	carotid artery disease		
http://purl.obolibrary.org/obo/DOID_3444	scrotum Paget's disease	http://purl.obolibrary.org/obo/DOID_3445	scrotal carcinoma		
http://purl.obolibrary.org/obo/DOID_9042	polyp of corpus uteri	http://purl.obolibrary.org/obo/DOID_345	uterine disease		
http://purl.obolibrary.org/obo/DOID_9346	Taylor's syndrome	http://purl.obolibrary.org/obo/DOID_345	uterine disease		
http://purl.obolibrary.org/obo/DOID_4683	cutaneous mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/DOID_3451	skin carcinoma		
http://purl.obolibrary.org/obo/DOID_4871	cutaneous adenocystic carcinoma	http://purl.obolibrary.org/obo/DOID_3451	skin carcinoma		
http://purl.obolibrary.org/obo/DOID_5376	skin pilomatrix carcinoma	http://purl.obolibrary.org/obo/DOID_3451	skin carcinoma		
http://purl.obolibrary.org/obo/DOID_6425	eyelid carcinoma	http://purl.obolibrary.org/obo/DOID_530	eyelid disease		
http://purl.obolibrary.org/obo/DOID_7039	Borst-Jadassohn intraepidermal carcinoma	http://purl.obolibrary.org/obo/DOID_3451	skin carcinoma		
http://purl.obolibrary.org/obo/DOID_5050	Ehrlich tumor carcinoma	http://purl.obolibrary.org/obo/DOID_3459	breast carcinoma		
http://purl.obolibrary.org/obo/DOID_3772	intraventricular meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_4210	clear cell meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_4436	anterior cranial fossa meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_4586	familial meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_4588	secretory meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_4591	lymphoplasmacyte-rich meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_4593	childhood meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_4594	microcystic meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_4749	middle cranial fossa meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_5058	rhabdoid meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_6086	malignant leptomeningeal neoplasm	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_6110	jugular foramen meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_6548	angiomatous meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_7210	psammomatous meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_7211	fibrous meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_7212	meningothelial meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_7213	transitional meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_7482	petrous apex meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_7634	suprasellar meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_7635	Gasserian ganglion meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_8006	skin meningioma	http://purl.obolibrary.org/obo/DOID_4159	skin cancer		
http://purl.obolibrary.org/obo/DOID_8030	periocular meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_8031	pineal region meningioma	http://purl.obolibrary.org/obo/DOID_5032	pineal gland cancer		
http://purl.obolibrary.org/obo/DOID_8216	parapharyngeal meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_3611	acute retinal necrosis syndrome	http://purl.obolibrary.org/obo/DOID_3612	retinitis		
http://purl.obolibrary.org/obo/DOID_724	female stress incontinence	http://purl.obolibrary.org/obo/DOID_365	bladder disease		
http://purl.obolibrary.org/obo/DOID_3665	diffuse cutaneous mastocytosis	http://purl.obolibrary.org/obo/DOID_3663	cutaneous mastocytosis		
http://purl.obolibrary.org/obo/DOID_2135	temporal lobe neoplasm	http://purl.obolibrary.org/obo/DOID_368	cerebrum cancer		
http://purl.obolibrary.org/obo/DOID_7007	childhood cerebral astrocytoma	http://purl.obolibrary.org/obo/DOID_368	cerebrum cancer		
http://purl.obolibrary.org/obo/DOID_7398	cerebral primitive neuroectodermal tumor	http://purl.obolibrary.org/obo/DOID_368	cerebrum cancer		
http://purl.obolibrary.org/obo/DOID_910	occipital lobe neoplasm	http://purl.obolibrary.org/obo/DOID_368	cerebrum cancer		
http://purl.obolibrary.org/obo/DOID_2053	reactive cutaneous fibrous lesion	http://purl.obolibrary.org/obo/DOID_37	skin disease		
http://purl.obolibrary.org/obo/DOID_2733	skin atrophy	http://purl.obolibrary.org/obo/DOID_37	skin disease		
http://purl.obolibrary.org/obo/DOID_3134	facial dermatosis	http://purl.obolibrary.org/obo/DOID_37	skin disease		
http://purl.obolibrary.org/obo/DOID_3136	scalp dermatosis	http://purl.obolibrary.org/obo/DOID_37	skin disease		
http://purl.obolibrary.org/obo/DOID_3142	leg dermatosis	http://purl.obolibrary.org/obo/DOID_37	skin disease		
http://purl.obolibrary.org/obo/DOID_3158	hand dermatosis	http://purl.obolibrary.org/obo/DOID_37	skin disease		
http://purl.obolibrary.org/obo/DOID_3486	necrobiosis lipoidica	http://purl.obolibrary.org/obo/DOID_37	skin disease		
http://purl.obolibrary.org/obo/DOID_4702	mongolian spot	http://purl.obolibrary.org/obo/DOID_37	skin disease		
http://purl.obolibrary.org/obo/DOID_6687	Achenbach syndrome	http://purl.obolibrary.org/obo/DOID_37	skin disease		
http://purl.obolibrary.org/obo/DOID_7365	Kimura disease	http://purl.obolibrary.org/obo/DOID_37	skin disease		
http://purl.obolibrary.org/obo/DOID_8549	chronic ulcer of skin	http://purl.obolibrary.org/obo/DOID_37	skin disease		
http://purl.obolibrary.org/obo/DOID_8574	lichen disease	http://purl.obolibrary.org/obo/DOID_37	skin disease		
http://purl.obolibrary.org/obo/DOID_8881	rosacea	http://purl.obolibrary.org/obo/DOID_37	skin disease		
http://purl.obolibrary.org/obo/DOID_9097	erythematosquamous dermatosis	http://purl.obolibrary.org/obo/DOID_37	skin disease		
http://purl.obolibrary.org/obo/DOID_9540	vascular skin disease	http://purl.obolibrary.org/obo/DOID_37	skin disease		
http://purl.obolibrary.org/obo/DOID_6595	gastric tubular adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3717	gastric adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_528	hydrarthrosis	http://purl.obolibrary.org/obo/DOID_381	arthropathy		
http://purl.obolibrary.org/obo/DOID_801	hemarthrosis	http://purl.obolibrary.org/obo/DOID_381	arthropathy		
http://purl.obolibrary.org/obo/DOID_9754	ganglion or cyst of synovium/tendon/bursa	http://purl.obolibrary.org/obo/DOID_381	arthropathy		
http://purl.obolibrary.org/obo/DOID_9898	villonodular synovitis	http://purl.obolibrary.org/obo/DOID_381	arthropathy		
http://purl.obolibrary.org/obo/DOID_3816	glossopharyngeal nerve paralysis	http://purl.obolibrary.org/obo/DOID_3817	cranial nerve palsy		
http://purl.obolibrary.org/obo/DOID_4872	lung adenoid cystic carcinoma	http://purl.obolibrary.org/obo/DOID_3905	lung carcinoma		
http://purl.obolibrary.org/obo/DOID_7267	lung clear cell carcinoma	http://purl.obolibrary.org/obo/DOID_3905	lung carcinoma		
http://purl.obolibrary.org/obo/DOID_7596	asbestos-related lung carcinoma	http://purl.obolibrary.org/obo/DOID_3905	lung carcinoma		
http://purl.obolibrary.org/obo/DOID_5391	bronchus adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		
http://purl.obolibrary.org/obo/DOID_8003	alveoli adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		
http://purl.obolibrary.org/obo/DOID_4968	Nelson syndrome	http://purl.obolibrary.org/obo/DOID_3952	adrenal cortex disease		
http://purl.obolibrary.org/obo/DOID_4043	skeletal muscle cancer	http://purl.obolibrary.org/obo/DOID_4045	muscle cancer		
http://purl.obolibrary.org/obo/DOID_4230	smooth muscle cancer	http://purl.obolibrary.org/obo/DOID_4045	muscle cancer		
http://purl.obolibrary.org/obo/DOID_900	hepatopulmonary syndrome	http://purl.obolibrary.org/obo/DOID_409	liver disease		
http://purl.obolibrary.org/obo/DOID_918	liver inflammatory pseudotumor	http://purl.obolibrary.org/obo/DOID_409	liver disease		
http://purl.obolibrary.org/obo/DOID_5042	malignant granular cell myoblastoma	http://purl.obolibrary.org/obo/DOID_4159	skin cancer		
http://purl.obolibrary.org/obo/DOID_5274	malignant dermis tumor	http://purl.obolibrary.org/obo/DOID_4159	skin cancer		
http://purl.obolibrary.org/obo/DOID_5193	nodular ganglioneuroblastoma	http://purl.obolibrary.org/obo/DOID_4163	ganglioneuroblastoma		
http://purl.obolibrary.org/obo/DOID_5194	intermixed schwannian stroma-rich ganglioneuroblastoma	http://purl.obolibrary.org/obo/DOID_4163	ganglioneuroblastoma		
http://purl.obolibrary.org/obo/DOID_5195	peripheral nervous system ganglioneuroblastoma	http://purl.obolibrary.org/obo/DOID_4163	ganglioneuroblastoma		
http://purl.obolibrary.org/obo/DOID_5056	adult cerebellar neoplasm	http://purl.obolibrary.org/obo/DOID_4205	cerebellum cancer		
http://purl.obolibrary.org/obo/DOID_5059	childhood cerebellar neoplasm	http://purl.obolibrary.org/obo/DOID_4205	cerebellum cancer		
http://purl.obolibrary.org/obo/DOID_2176	carbuncle	http://purl.obolibrary.org/obo/DOID_4223	pyoderma		
http://purl.obolibrary.org/obo/DOID_8553	pyoderma gangrenosum	http://purl.obolibrary.org/obo/DOID_4223	pyoderma		
http://purl.obolibrary.org/obo/DOID_431	myofascial pain syndrome	http://purl.obolibrary.org/obo/DOID_423	myopathy		
http://purl.obolibrary.org/obo/DOID_767	muscular atrophy	http://purl.obolibrary.org/obo/DOID_423	myopathy		
http://purl.obolibrary.org/obo/DOID_4250	conjunctivochalasis	http://purl.obolibrary.org/obo/DOID_4251	conjunctival disease		
http://purl.obolibrary.org/obo/DOID_7708	perianal skin Paget's disease	http://purl.obolibrary.org/obo/DOID_4284	anal margin carcinoma		
http://purl.obolibrary.org/obo/DOID_7875	adult xanthogranuloma	http://purl.obolibrary.org/obo/DOID_4330	non-Langerhans-cell histiocytosis		
http://purl.obolibrary.org/obo/DOID_6163	familial renal papillary carcinoma	http://purl.obolibrary.org/obo/DOID_4455	hereditary renal cell carcinoma		
http://purl.obolibrary.org/obo/DOID_7192	hereditary conventional renal cell carcinoma	http://purl.obolibrary.org/obo/DOID_4455	hereditary renal cell carcinoma		
http://purl.obolibrary.org/obo/DOID_6658	pulmonary large cell neuroendocrine carcinoma	http://purl.obolibrary.org/obo/DOID_4556	lung large cell carcinoma		
http://purl.obolibrary.org/obo/DOID_7169	lung occult large cell carcinoma	http://purl.obolibrary.org/obo/DOID_4556	lung large cell carcinoma		
http://purl.obolibrary.org/obo/DOID_7480	large cell carcinoma with rhabdoid phenotype	http://purl.obolibrary.org/obo/DOID_4556	lung large cell carcinoma		
http://purl.obolibrary.org/obo/DOID_4119	intestinal neuroendocrine benign tumor	http://purl.obolibrary.org/obo/DOID_4610	intestinal benign neoplasm		
http://purl.obolibrary.org/obo/DOID_4664	filamentary keratitis	http://purl.obolibrary.org/obo/DOID_4677	keratitis		
http://purl.obolibrary.org/obo/DOID_9697	gonococcal keratitis	http://purl.obolibrary.org/obo/DOID_4677	keratitis		
http://purl.obolibrary.org/obo/DOID_4690	childhood mediastinal neurogenic tumor	http://purl.obolibrary.org/obo/DOID_4691	malignant mediastinal neurogenic neoplasm		
http://purl.obolibrary.org/obo/DOID_2301	atrophy of prostate	http://purl.obolibrary.org/obo/DOID_47	prostate disease		
http://purl.obolibrary.org/obo/DOID_4707	cervicomedullary junction neoplasm	http://purl.obolibrary.org/obo/DOID_4706	infratentorial cancer		
http://purl.obolibrary.org/obo/DOID_7501	childhood infratentorial ependymoma	http://purl.obolibrary.org/obo/DOID_4706	infratentorial cancer		
http://purl.obolibrary.org/obo/DOID_470	verrucous keratotic hemangioma	http://purl.obolibrary.org/obo/DOID_471	skin hemangioma		
http://purl.obolibrary.org/obo/DOID_479	angiokeratoma	http://purl.obolibrary.org/obo/DOID_471	skin hemangioma		
http://purl.obolibrary.org/obo/DOID_5576	inhibited male orgasm	http://purl.obolibrary.org/obo/DOID_48	male reproductive system disease		
http://purl.obolibrary.org/obo/DOID_9912	hydrocele	http://purl.obolibrary.org/obo/DOID_48	male reproductive system disease		
http://purl.obolibrary.org/obo/DOID_9854	lingual-facial-buccal dyskinesia	http://purl.obolibrary.org/obo/DOID_480	movement disease		
http://purl.obolibrary.org/obo/DOID_3148	dermal unilateral segmental cavernous angioma	http://purl.obolibrary.org/obo/DOID_483	cavernous hemangioma		
http://purl.obolibrary.org/obo/DOID_5774	giant hemangioma	http://purl.obolibrary.org/obo/DOID_483	cavernous hemangioma		
http://purl.obolibrary.org/obo/DOID_5775	cavernous hemangioma of colon	http://purl.obolibrary.org/obo/DOID_5353	colonic disease		
http://purl.obolibrary.org/obo/DOID_5776	cavernous hemangioma of face	http://purl.obolibrary.org/obo/DOID_483	cavernous hemangioma		
http://purl.obolibrary.org/obo/DOID_4875	trachea adenoid cystic carcinoma	http://purl.obolibrary.org/obo/DOID_4876	trachea carcinoma		
http://purl.obolibrary.org/obo/DOID_2856	euthyroid sick syndrome	http://purl.obolibrary.org/obo/DOID_50	thyroid gland disease		
http://purl.obolibrary.org/obo/DOID_8433	thyroid malformation	http://purl.obolibrary.org/obo/DOID_50	thyroid gland disease		
http://purl.obolibrary.org/obo/DOID_5031	adult pineal parenchymal tumor	http://purl.obolibrary.org/obo/DOID_5032	pineal gland cancer		
http://purl.obolibrary.org/obo/DOID_5040	malignant granular cell esophageal tumor	http://purl.obolibrary.org/obo/DOID_5041	esophageal cancer		
http://purl.obolibrary.org/obo/DOID_5784	esophageal neuroendocrine tumor	http://purl.obolibrary.org/obo/DOID_5041	esophageal cancer		
http://purl.obolibrary.org/obo/DOID_961	neurofibroma of the esophagus	http://purl.obolibrary.org/obo/DOID_962	neurofibroma		
http://purl.obolibrary.org/obo/DOID_7439	polyp of middle ear	http://purl.obolibrary.org/obo/DOID_5100	middle ear disease		
http://purl.obolibrary.org/obo/DOID_519	aortitis	http://purl.obolibrary.org/obo/DOID_520	aortic disease		
http://purl.obolibrary.org/obo/DOID_2074	intestinal perforation	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		
http://purl.obolibrary.org/obo/DOID_8437	intestinal obstruction	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		
http://purl.obolibrary.org/obo/DOID_8476	Whipple disease	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		
http://purl.obolibrary.org/obo/DOID_8590	acute vascular insufficiency of intestine	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		
http://purl.obolibrary.org/obo/DOID_8633	chronic intestinal vascular insufficiency	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		
http://purl.obolibrary.org/obo/DOID_8643	duodenitis	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		
http://purl.obolibrary.org/obo/DOID_9779	bowel dysfunction	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		
http://purl.obolibrary.org/obo/DOID_2444	hyperpituitarism	http://purl.obolibrary.org/obo/DOID_53	pituitary gland disease		
http://purl.obolibrary.org/obo/DOID_3642	empty sella syndrome	http://purl.obolibrary.org/obo/DOID_53	pituitary gland disease		
http://purl.obolibrary.org/obo/DOID_7378	pituitary hypoplasia	http://purl.obolibrary.org/obo/DOID_53	pituitary gland disease		
http://purl.obolibrary.org/obo/DOID_5608	dental pulp calcification	http://purl.obolibrary.org/obo/DOID_5330	dental pulp disease		
http://purl.obolibrary.org/obo/DOID_1897	sigmoid disease	http://purl.obolibrary.org/obo/DOID_5353	colonic disease		
http://purl.obolibrary.org/obo/DOID_3877	functional colonic disease	http://purl.obolibrary.org/obo/DOID_5353	colonic disease		
http://purl.obolibrary.org/obo/DOID_538	internuclear ophthalmoplegia	http://purl.obolibrary.org/obo/DOID_540	strabismus		
http://purl.obolibrary.org/obo/DOID_1942	intermittent squint	http://purl.obolibrary.org/obo/DOID_540	strabismus		
http://purl.obolibrary.org/obo/DOID_9837	hypertropia	http://purl.obolibrary.org/obo/DOID_540	strabismus		
http://purl.obolibrary.org/obo/DOID_9838	cyclotropia	http://purl.obolibrary.org/obo/DOID_540	strabismus		
http://purl.obolibrary.org/obo/DOID_9841	hypotropia	http://purl.obolibrary.org/obo/DOID_540	strabismus		
http://purl.obolibrary.org/obo/DOID_9843	monofixation syndrome	http://purl.obolibrary.org/obo/DOID_540	strabismus		
http://purl.obolibrary.org/obo/DOID_5411	lung oat cell carcinoma	http://purl.obolibrary.org/obo/DOID_5409	lung small cell carcinoma		
http://purl.obolibrary.org/obo/DOID_5414	lung occult small cell carcinoma	http://purl.obolibrary.org/obo/DOID_5409	lung small cell carcinoma		
http://purl.obolibrary.org/obo/DOID_1751	malignant conjunctival melanoma	http://purl.obolibrary.org/obo/DOID_5467	conjunctival cancer		
http://purl.obolibrary.org/obo/DOID_2981	kidney papillary necrosis	http://purl.obolibrary.org/obo/DOID_557	kidney disease		
http://purl.obolibrary.org/obo/DOID_2982	perinephritis	http://purl.obolibrary.org/obo/DOID_557	kidney disease		
http://purl.obolibrary.org/obo/DOID_2983	anuria	http://purl.obolibrary.org/obo/DOID_557	kidney disease		
http://purl.obolibrary.org/obo/DOID_3508	stricture or kinking of ureter	http://purl.obolibrary.org/obo/DOID_557	kidney disease		
http://purl.obolibrary.org/obo/DOID_782	renal infectious disease	http://purl.obolibrary.org/obo/DOID_557	kidney disease		
http://purl.obolibrary.org/obo/DOID_9617	orthostatic proteinuria	http://purl.obolibrary.org/obo/DOID_557	kidney disease		
http://purl.obolibrary.org/obo/DOID_9622	kidney hypertrophy	http://purl.obolibrary.org/obo/DOID_557	kidney disease		
http://purl.obolibrary.org/obo/DOID_3618	epidural spinal canal neoplasm	http://purl.obolibrary.org/obo/DOID_5612	spinal cancer		
http://purl.obolibrary.org/obo/DOID_3637	childhood spinal cord tumor	http://purl.obolibrary.org/obo/DOID_5612	spinal cancer		
http://purl.obolibrary.org/obo/DOID_3639	spinal cord intramedullary teratoma	http://purl.obolibrary.org/obo/DOID_5612	spinal cancer		
http://purl.obolibrary.org/obo/DOID_3641	conus medullaris neoplasm	http://purl.obolibrary.org/obo/DOID_5612	spinal cancer		
http://purl.obolibrary.org/obo/DOID_4847	cauda equina neoplasm	http://purl.obolibrary.org/obo/DOID_5612	spinal cancer		
http://purl.obolibrary.org/obo/DOID_5615	spinal canal intradural extramedullary neoplasm	http://purl.obolibrary.org/obo/DOID_5612	spinal cancer		
http://purl.obolibrary.org/obo/DOID_7224	spinal meninges cancer	http://purl.obolibrary.org/obo/DOID_5612	spinal cancer		
http://purl.obolibrary.org/obo/DOID_9335	scotoma	http://purl.obolibrary.org/obo/DOID_5614	eye disease		
http://purl.obolibrary.org/obo/DOID_9722	ophthalmia nodosa	http://purl.obolibrary.org/obo/DOID_5614	eye disease		
http://purl.obolibrary.org/obo/DOID_1776	labyrinthine unilateral reactive loss	http://purl.obolibrary.org/obo/DOID_566	labyrinthine dysfunction		
http://purl.obolibrary.org/obo/DOID_1777	unilateral hyperactive labyrinth	http://purl.obolibrary.org/obo/DOID_566	labyrinthine dysfunction		
http://purl.obolibrary.org/obo/DOID_565	bilateral hypoactive labyrinth	http://purl.obolibrary.org/obo/DOID_566	labyrinthine dysfunction		
http://purl.obolibrary.org/obo/DOID_9496	unilateral hypoactive labyrinth	http://purl.obolibrary.org/obo/DOID_566	labyrinthine dysfunction		
http://purl.obolibrary.org/obo/DOID_6929	retinal edema	http://purl.obolibrary.org/obo/DOID_5679	retinal disease		
http://purl.obolibrary.org/obo/DOID_7633	macular holes	http://purl.obolibrary.org/obo/DOID_5679	retinal disease		
http://purl.obolibrary.org/obo/DOID_1835	mononeuritis multiplex	http://purl.obolibrary.org/obo/DOID_572	mononeuritis of upper limb and mononeuritis multiplex		
http://purl.obolibrary.org/obo/DOID_1844	mononeuritis of upper limb	http://purl.obolibrary.org/obo/DOID_572	mononeuritis of upper limb and mononeuritis multiplex		
http://purl.obolibrary.org/obo/DOID_571	median neuropathy	http://purl.obolibrary.org/obo/DOID_572	mononeuritis of upper limb and mononeuritis multiplex		
http://purl.obolibrary.org/obo/DOID_5732	pyosalpinx	http://purl.obolibrary.org/obo/DOID_5733	salpingitis		
http://purl.obolibrary.org/obo/DOID_6925	peroneal nerve paralysis	http://purl.obolibrary.org/obo/DOID_574	peripheral nervous system disease		
http://purl.obolibrary.org/obo/DOID_5748	rheumatic pulmonary valve disease	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		
http://purl.obolibrary.org/obo/DOID_6420	pulmonary valve stenosis	http://purl.obolibrary.org/obo/DOID_5749	pulmonary valve disease		
http://purl.obolibrary.org/obo/DOID_5781	atrophic flaccid tympanic membrane	http://purl.obolibrary.org/obo/DOID_5782	tympanic membrane disease		
http://purl.obolibrary.org/obo/DOID_5874	retroperitoneal germ cell neoplasm	http://purl.obolibrary.org/obo/DOID_5875	retroperitoneal cancer		
http://purl.obolibrary.org/obo/DOID_2861	congenital nonspherocytic hemolytic anemia	http://purl.obolibrary.org/obo/DOID_589	congenital hemolytic anemia		
http://purl.obolibrary.org/obo/DOID_6345	malignant melanocytic neoplasm of the peripheral nerve sheath	http://purl.obolibrary.org/obo/DOID_5940	malignant peripheral nerve sheath tumor		
http://purl.obolibrary.org/obo/DOID_6707	malignant triton tumor	http://purl.obolibrary.org/obo/DOID_5940	malignant peripheral nerve sheath tumor		
http://purl.obolibrary.org/obo/DOID_7732	childhood malignant schwannoma	http://purl.obolibrary.org/obo/DOID_5940	malignant peripheral nerve sheath tumor		
http://purl.obolibrary.org/obo/DOID_8353	epithelioid malignant peripheral nerve sheath tumor	http://purl.obolibrary.org/obo/DOID_5940	malignant peripheral nerve sheath tumor		
http://purl.obolibrary.org/obo/DOID_8369	adult malignant schwannoma	http://purl.obolibrary.org/obo/DOID_5940	malignant peripheral nerve sheath tumor		
http://purl.obolibrary.org/obo/DOID_8420	malignant glandular tumor of peripheral nerve sheath	http://purl.obolibrary.org/obo/DOID_5940	malignant peripheral nerve sheath tumor		
http://purl.obolibrary.org/obo/DOID_9651	systolic heart failure	http://purl.obolibrary.org/obo/DOID_6000	congestive heart failure		
http://purl.obolibrary.org/obo/DOID_9775	diastolic heart failure	http://purl.obolibrary.org/obo/DOID_6000	congestive heart failure		
http://purl.obolibrary.org/obo/DOID_9021	esophageal leukoplakia	http://purl.obolibrary.org/obo/DOID_6050	esophageal disease		
http://purl.obolibrary.org/obo/DOID_9192	dyskinesia of esophagus	http://purl.obolibrary.org/obo/DOID_6050	esophageal disease		
http://purl.obolibrary.org/obo/DOID_2458	papillary conjunctivitis	http://purl.obolibrary.org/obo/DOID_6195	conjunctivitis		
http://purl.obolibrary.org/obo/DOID_9709	rosacea conjunctivitis	http://purl.obolibrary.org/obo/DOID_6195	conjunctivitis		
http://purl.obolibrary.org/obo/DOID_8400	malignant cornea melanoma	http://purl.obolibrary.org/obo/DOID_6199	cornea cancer		
http://purl.obolibrary.org/obo/DOID_5232	aortic valve prolapse	http://purl.obolibrary.org/obo/DOID_62	aortic valve disease		
http://purl.obolibrary.org/obo/DOID_6291	cerebral hemisphere lipoma	http://purl.obolibrary.org/obo/DOID_6293	central nervous system lipoma		
http://purl.obolibrary.org/obo/DOID_6607	nervous system hibernoma	http://purl.obolibrary.org/obo/DOID_6293	central nervous system lipoma		
http://purl.obolibrary.org/obo/DOID_3428	granulomatous myositis	http://purl.obolibrary.org/obo/DOID_633	myositis		
http://purl.obolibrary.org/obo/DOID_876	pyomyositis	http://purl.obolibrary.org/obo/DOID_633	myositis		
http://purl.obolibrary.org/obo/DOID_9788	myositis fibrosa	http://purl.obolibrary.org/obo/DOID_633	myositis		
http://purl.obolibrary.org/obo/DOID_3530	chronic wasting disease	http://purl.obolibrary.org/obo/DOID_649	prion disease		
http://purl.obolibrary.org/obo/DOID_5434	scrapie	http://purl.obolibrary.org/obo/DOID_649	prion disease		
http://purl.obolibrary.org/obo/DOID_5435	variant Creutzfeldt-Jakob disease	http://purl.obolibrary.org/obo/DOID_649	prion disease		
http://purl.obolibrary.org/obo/DOID_648	kuru	http://purl.obolibrary.org/obo/DOID_649	prion disease		
http://purl.obolibrary.org/obo/DOID_11684	melanoacanthoma	http://purl.obolibrary.org/obo/DOID_6498	seborrheic keratosis		
http://purl.obolibrary.org/obo/DOID_6945	inverted follicular keratosis	http://purl.obolibrary.org/obo/DOID_6498	seborrheic keratosis		
http://purl.obolibrary.org/obo/DOID_2682	intracystic papillary adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		
http://purl.obolibrary.org/obo/DOID_3172	papillary adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		
http://purl.obolibrary.org/obo/DOID_4193	intracranial thrombosis	http://purl.obolibrary.org/obo/DOID_0060903	thrombosis		
http://purl.obolibrary.org/obo/DOID_4372	intracranial embolism	http://purl.obolibrary.org/obo/DOID_6713	cerebrovascular disease		
http://purl.obolibrary.org/obo/DOID_890	mitochondrial encephalomyopathy	http://purl.obolibrary.org/obo/DOID_699	mitochondrial myopathy		
http://purl.obolibrary.org/obo/DOID_706	mature B-cell neoplasm	http://purl.obolibrary.org/obo/DOID_707	B-cell lymphoma		
http://purl.obolibrary.org/obo/DOID_7165	subacute thyroiditis	http://purl.obolibrary.org/obo/DOID_7166	thyroiditis		
http://purl.obolibrary.org/obo/DOID_7187	subacute lymphocytic thyroiditis	http://purl.obolibrary.org/obo/DOID_7166	thyroiditis		
http://purl.obolibrary.org/obo/DOID_730	urethral benign neoplasm	http://purl.obolibrary.org/obo/DOID_732	urethral disease		
http://purl.obolibrary.org/obo/DOID_9339	urethral false passage	http://purl.obolibrary.org/obo/DOID_732	urethral disease		
http://purl.obolibrary.org/obo/DOID_9341	urethral diverticulum	http://purl.obolibrary.org/obo/DOID_732	urethral disease		
http://purl.obolibrary.org/obo/DOID_9589	urethral calculus	http://purl.obolibrary.org/obo/DOID_9590	lower urinary tract calculus		
http://purl.obolibrary.org/obo/DOID_9877	urethral gland abscess	http://purl.obolibrary.org/obo/DOID_732	urethral disease		
http://purl.obolibrary.org/obo/DOID_4176	blood group incompatibility	http://purl.obolibrary.org/obo/DOID_74	hematopoietic system disease		
http://purl.obolibrary.org/obo/DOID_4347	lymphocele	http://purl.obolibrary.org/obo/DOID_75	lymphatic system disease		
http://purl.obolibrary.org/obo/DOID_533	thymus gland disease	http://purl.obolibrary.org/obo/DOID_75	lymphatic system disease		
http://purl.obolibrary.org/obo/DOID_749	active peptic ulcer disease	http://purl.obolibrary.org/obo/DOID_750	peptic ulcer disease		
http://purl.obolibrary.org/obo/DOID_752	peptic ulcer perforation	http://purl.obolibrary.org/obo/DOID_750	peptic ulcer disease		
http://purl.obolibrary.org/obo/DOID_8644	gastroduodenitis	http://purl.obolibrary.org/obo/DOID_750	peptic ulcer disease		
http://purl.obolibrary.org/obo/DOID_3218	jejunal neoplasm	http://purl.obolibrary.org/obo/DOID_7505	small intestine benign neoplasm		
http://purl.obolibrary.org/obo/DOID_4434	small intestine neuroendocrine neoplasm	http://purl.obolibrary.org/obo/DOID_7505	small intestine benign neoplasm		
http://purl.obolibrary.org/obo/DOID_3229	gastric dilatation	http://purl.obolibrary.org/obo/DOID_76	stomach disease		
http://purl.obolibrary.org/obo/DOID_4370	stomach diverticulosis	http://purl.obolibrary.org/obo/DOID_76	stomach disease		
http://purl.obolibrary.org/obo/DOID_4160	differentiating neuroblastoma	http://purl.obolibrary.org/obo/DOID_769	neuroblastoma		
http://purl.obolibrary.org/obo/DOID_8534	gastroesophageal reflux disease	http://purl.obolibrary.org/obo/DOID_77	gastrointestinal system disease		
http://purl.obolibrary.org/obo/DOID_8677	perinatal necrotizing enterocolitis	http://purl.obolibrary.org/obo/DOID_77	gastrointestinal system disease		
http://purl.obolibrary.org/obo/DOID_2562	suppurative periapical periodontitis	http://purl.obolibrary.org/obo/DOID_823	periapical periodontitis		
http://purl.obolibrary.org/obo/DOID_4617	periapical granuloma	http://purl.obolibrary.org/obo/DOID_823	periapical periodontitis		
http://purl.obolibrary.org/obo/DOID_2834	acquired polycythemia	http://purl.obolibrary.org/obo/DOID_8432	polycythemia		
http://purl.obolibrary.org/obo/DOID_8431	physiological polycythemia	http://purl.obolibrary.org/obo/DOID_8432	polycythemia		
http://purl.obolibrary.org/obo/DOID_8464	flat retinoschisis	http://purl.obolibrary.org/obo/DOID_8465	retinoschisis		
http://purl.obolibrary.org/obo/DOID_8482	transient retinal arterial occlusion	http://purl.obolibrary.org/obo/DOID_8483	retinal artery occlusion		
http://purl.obolibrary.org/obo/DOID_8498	hereditary night blindness	http://purl.obolibrary.org/obo/DOID_8499	night blindness		
http://purl.obolibrary.org/obo/DOID_8500	hereditary retinal dystrophy	http://purl.obolibrary.org/obo/DOID_8501	fundus dystrophy		
http://purl.obolibrary.org/obo/DOID_8505	dermatitis herpetiformis	http://purl.obolibrary.org/obo/DOID_8502	bullous skin disease		
http://purl.obolibrary.org/obo/DOID_8508	subcorneal pustular dermatosis	http://purl.obolibrary.org/obo/DOID_8502	bullous skin disease		
http://purl.obolibrary.org/obo/DOID_8514	acute pulmonary heart disease	http://purl.obolibrary.org/obo/DOID_8515	Cor pulmonale		
http://purl.obolibrary.org/obo/DOID_8564	lip cancer	http://purl.obolibrary.org/obo/DOID_9297	lip disease		
http://purl.obolibrary.org/obo/DOID_8578	soft palate cancer	http://purl.obolibrary.org/obo/DOID_8618	oral cavity cancer		
http://purl.obolibrary.org/obo/DOID_8602	gum cancer	http://purl.obolibrary.org/obo/DOID_8618	oral cavity cancer		
http://purl.obolibrary.org/obo/DOID_8702	cheek mucosa cancer	http://purl.obolibrary.org/obo/DOID_8618	oral cavity cancer		
http://purl.obolibrary.org/obo/DOID_8930	retromolar area cancer	http://purl.obolibrary.org/obo/DOID_8618	oral cavity cancer		
http://purl.obolibrary.org/obo/DOID_9149	hard palate cancer	http://purl.obolibrary.org/obo/DOID_8618	oral cavity cancer		
http://purl.obolibrary.org/obo/DOID_9188	vestibule of mouth cancer	http://purl.obolibrary.org/obo/DOID_8618	oral cavity cancer		
http://purl.obolibrary.org/obo/DOID_862	diplegia of upper limb	http://purl.obolibrary.org/obo/DOID_863	nervous system disease		
http://purl.obolibrary.org/obo/DOID_251	alcohol-induced mental disorder	http://purl.obolibrary.org/obo/DOID_8646	substance-induced psychosis		
http://purl.obolibrary.org/obo/DOID_8645	subacute delirium	http://purl.obolibrary.org/obo/DOID_8646	substance-induced psychosis		
http://purl.obolibrary.org/obo/DOID_2555	granulomatous angiitis	http://purl.obolibrary.org/obo/DOID_865	vasculitis		
http://purl.obolibrary.org/obo/DOID_3825	Shwartzman phenomenon	http://purl.obolibrary.org/obo/DOID_865	vasculitis		
http://purl.obolibrary.org/obo/DOID_1803	neuritis	http://purl.obolibrary.org/obo/DOID_870	neuropathy		
http://purl.obolibrary.org/obo/DOID_7319	axonal neuropathy	http://purl.obolibrary.org/obo/DOID_870	neuropathy		
http://purl.obolibrary.org/obo/DOID_297	pleomorphic adenoma carcinoma	http://purl.obolibrary.org/obo/DOID_8850	salivary gland cancer		
http://purl.obolibrary.org/obo/DOID_5309	epithelial-myoepithelial carcinoma	http://purl.obolibrary.org/obo/DOID_8850	salivary gland cancer		
http://purl.obolibrary.org/obo/DOID_8787	disseminated chorioretinitis	http://purl.obolibrary.org/obo/DOID_8886	chorioretinitis		
http://purl.obolibrary.org/obo/DOID_8946	severe nonproliferative diabetic retinopathy	http://purl.obolibrary.org/obo/DOID_8947	diabetic retinopathy		
http://purl.obolibrary.org/obo/DOID_9191	diabetic macular edema	http://purl.obolibrary.org/obo/DOID_8947	diabetic retinopathy		
http://purl.obolibrary.org/obo/DOID_1838	Menkes disease	http://purl.obolibrary.org/obo/DOID_896	metal metabolism disorder		
http://purl.obolibrary.org/obo/DOID_3317	hepatic angiomyolipoma	http://purl.obolibrary.org/obo/DOID_916	liver benign neoplasm		
http://purl.obolibrary.org/obo/DOID_907	liver fibroma	http://purl.obolibrary.org/obo/DOID_916	liver benign neoplasm		
http://purl.obolibrary.org/obo/DOID_917	liver leiomyoma	http://purl.obolibrary.org/obo/DOID_916	liver benign neoplasm		
http://purl.obolibrary.org/obo/DOID_9945	constant exophthalmos	http://purl.obolibrary.org/obo/DOID_930	orbital disease		
http://purl.obolibrary.org/obo/DOID_9461	exposure keratitis	http://purl.obolibrary.org/obo/DOID_9368	keratoconjunctivitis		
http://purl.obolibrary.org/obo/DOID_9378	glaucomatocyclitic crisis	http://purl.obolibrary.org/obo/DOID_9383	iridocyclitis		
http://purl.obolibrary.org/obo/DOID_9384	gonococcal iridocyclitis	http://purl.obolibrary.org/obo/DOID_9383	iridocyclitis		
http://purl.obolibrary.org/obo/DOID_9388	lens-induced iridocyclitis	http://purl.obolibrary.org/obo/DOID_9383	iridocyclitis		
http://purl.obolibrary.org/obo/DOID_9389	infectious anterior uveitis	http://purl.obolibrary.org/obo/DOID_9383	iridocyclitis		
http://purl.obolibrary.org/obo/DOID_9476	Sheehan syndrome	http://purl.obolibrary.org/obo/DOID_9406	hypopituitarism		
http://purl.obolibrary.org/obo/DOID_9407	strictly posterior acute myocardial infarction	http://purl.obolibrary.org/obo/DOID_9408	acute myocardial infarction		
http://purl.obolibrary.org/obo/DOID_1894	noninfectious dermatoses of eyelid	http://purl.obolibrary.org/obo/DOID_9423	blepharitis		
http://purl.obolibrary.org/obo/DOID_9483	ulcerative blepharitis	http://purl.obolibrary.org/obo/DOID_9423	blepharitis		
http://purl.obolibrary.org/obo/DOID_9427	hypertensive encephalopathy	http://purl.obolibrary.org/obo/DOID_9428	intracranial hypertension		
http://purl.obolibrary.org/obo/DOID_9439	chronic cholangitis	http://purl.obolibrary.org/obo/DOID_9446	cholangitis		
http://purl.obolibrary.org/obo/DOID_9459	isthmus cancer	http://purl.obolibrary.org/obo/DOID_9460	uterine corpus cancer		
http://purl.obolibrary.org/obo/DOID_949	chronic dacryoadenitis	http://purl.obolibrary.org/obo/DOID_950	dacryoadenitis		
http://purl.obolibrary.org/obo/DOID_952	acute dacryoadenitis	http://purl.obolibrary.org/obo/DOID_950	dacryoadenitis		
http://purl.obolibrary.org/obo/DOID_350	mastocytosis	http://purl.obolibrary.org/obo/DOID_9500	leukocyte disease		
http://purl.obolibrary.org/obo/DOID_6735	schwannoma of jugular foramen	http://purl.obolibrary.org/obo/DOID_956	peripheral nerve schwannoma		
http://purl.obolibrary.org/obo/DOID_5222	acute necrotizing encephalitis	http://purl.obolibrary.org/obo/DOID_9588	encephalitis		
http://purl.obolibrary.org/obo/DOID_5224	acute hemorrhagic encephalitis	http://purl.obolibrary.org/obo/DOID_9588	encephalitis		
http://purl.obolibrary.org/obo/DOID_5225	von Economo's disease	http://purl.obolibrary.org/obo/DOID_9588	encephalitis		
http://purl.obolibrary.org/obo/DOID_2669	Pacinian tumor	http://purl.obolibrary.org/obo/DOID_962	neurofibroma		
http://purl.obolibrary.org/obo/DOID_3512	neurofibrosarcoma	http://purl.obolibrary.org/obo/DOID_962	neurofibroma		
http://purl.obolibrary.org/obo/DOID_5149	epithelioid neurofibroma	http://purl.obolibrary.org/obo/DOID_962	neurofibroma		
http://purl.obolibrary.org/obo/DOID_5151	plexiform neurofibroma	http://purl.obolibrary.org/obo/DOID_962	neurofibroma		
http://purl.obolibrary.org/obo/DOID_5152	cellular neurofibroma	http://purl.obolibrary.org/obo/DOID_962	neurofibroma		
http://purl.obolibrary.org/obo/DOID_5153	atypical neurofibroma	http://purl.obolibrary.org/obo/DOID_962	neurofibroma		
http://purl.obolibrary.org/obo/DOID_9300	neurofibroma of the heart	http://purl.obolibrary.org/obo/DOID_962	neurofibroma		
http://purl.obolibrary.org/obo/DOID_9673	ulcerative stomatitis	http://purl.obolibrary.org/obo/DOID_9637	stomatitis		
http://purl.obolibrary.org/obo/DOID_9726	vitreous detachment	http://purl.obolibrary.org/obo/DOID_9720	vitreous disease		
http://purl.obolibrary.org/obo/DOID_9839	accommodative esotropia	http://purl.obolibrary.org/obo/DOID_9840	esotropia		
http://purl.obolibrary.org/obo/DOID_9888	alternating esotropia	http://purl.obolibrary.org/obo/DOID_9840	esotropia		
http://purl.obolibrary.org/obo/DOID_9848	endolymphatic hydrops	http://purl.obolibrary.org/obo/DOID_9847	peripheral vertigo		
http://purl.obolibrary.org/obo/DOID_1943	telogen effluvium	http://purl.obolibrary.org/obo/DOID_987	alopecia		
http://purl.obolibrary.org/obo/DOID_9937	chronic dacryocystitis	http://purl.obolibrary.org/obo/DOID_9938	dacryocystitis		
http://purl.obolibrary.org/obo/DOID_9954	null-cell leukemia	http://purl.obolibrary.org/obo/DOID_9952	acute lymphoblastic leukemia		
http://purl.obolibrary.org/obo/HP_0000153	Abnormality of the mouth	http://purl.obolibrary.org/obo/HP_0000271	Abnormality of the face		
http://purl.obolibrary.org/obo/HP_0000290	Abnormal forehead morphology	http://purl.obolibrary.org/obo/HP_0000271	Abnormality of the face		
http://purl.obolibrary.org/obo/HP_0000309	Abnormal midface morphology	http://purl.obolibrary.org/obo/HP_0000271	Abnormality of the face		
http://purl.obolibrary.org/obo/HP_0000366	Abnormality of the nose	http://purl.obolibrary.org/obo/HP_0000271	Abnormality of the face		
http://purl.obolibrary.org/obo/HP_0001999	Abnormal facial shape	http://purl.obolibrary.org/obo/HP_0000271	Abnormality of the face		
http://purl.obolibrary.org/obo/HP_0012638	Abnormal nervous system physiology	http://purl.obolibrary.org/obo/HP_0000707	Abnormality of the nervous system		
http://purl.obolibrary.org/obo/HP_0012639	Abnormal nervous system morphology	http://purl.obolibrary.org/obo/HP_0000707	Abnormality of the nervous system		
http://purl.obolibrary.org/obo/HP_0011842	Abnormal skeletal morphology	http://purl.obolibrary.org/obo/HP_0000924	Abnormality of the skeletal system		
http://purl.obolibrary.org/obo/HP_0010765	Palmar hyperkeratosis	http://purl.obolibrary.org/obo/HP_0040211	Abnormal skin morphology of the palm		
http://purl.obolibrary.org/obo/HP_0001010	Hypopigmentation of the skin	http://purl.obolibrary.org/obo/HP_0001000	Abnormality of skin pigmentation		
http://purl.obolibrary.org/obo/HP_0003498	Disproportionate short stature	http://purl.obolibrary.org/obo/HP_0004322	Short stature		
http://purl.obolibrary.org/obo/HP_0003508	Proportionate short stature	http://purl.obolibrary.org/obo/HP_0004322	Short stature		
http://purl.obolibrary.org/obo/NCBITaxon_3384189	Fusobacteriati	http://purl.obolibrary.org/obo/NCBITaxon_2	Bacteria		
http://purl.obolibrary.org/obo/NCBITaxon_39412	Phialophora verrucosa	http://purl.obolibrary.org/obo/NCBITaxon_5600	Phialophora		
http://purl.obolibrary.org/obo/UBERON_0001007	digestive system	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0002390	hematopoietic system	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0007798	vascular system	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0000079	male reproductive system	http://purl.obolibrary.org/obo/UBERON_0000990	reproductive system		
http://purl.obolibrary.org/obo/UBERON_0000474	female reproductive system	http://purl.obolibrary.org/obo/UBERON_0000990	reproductive system		
http://purl.obolibrary.org/obo/UBERON_0004681	vestibular system	http://purl.obolibrary.org/obo/UBERON_0001032	sensory system		
http://purl.obolibrary.org/obo/UBERON_0016490	auditory system	http://purl.obolibrary.org/obo/UBERON_0007037	mechanosensory system		
http://purl.obolibrary.org/obo/UBERON_0004363	pharyngeal arch artery	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0000382	apocrine sweat gland	http://purl.obolibrary.org/obo/UBERON_0012177	skin apocrine gland		
http://purl.obolibrary.org/obo/UBERON_0000423	eccrine sweat gland	http://purl.obolibrary.org/obo/UBERON_0010243	merocrine gland		
http://purl.obolibrary.org/obo/UBERON_0001834	upper lip	http://purl.obolibrary.org/obo/UBERON_0001833	lip		
http://purl.obolibrary.org/obo/UBERON_0001835	lower lip	http://purl.obolibrary.org/obo/UBERON_0001833	lip		
http://purl.obolibrary.org/obo/UBERON_0001735	tonsillar ring	http://purl.obolibrary.org/obo/UBERON_0001962	gut-associated lymphoid tissue		
http://purl.obolibrary.org/obo/UBERON_0002182	main bronchus	http://purl.obolibrary.org/obo/UBERON_0002185	bronchus		
http://purl.obolibrary.org/obo/UBERON_0001732	pharyngeal tonsil	http://purl.obolibrary.org/obo/UBERON_0012330	nasal-associated lymphoid tissue		
http://purl.obolibrary.org/obo/UBERON_0003704	intrahepatic bile duct	http://purl.obolibrary.org/obo/UBERON_0002394	bile duct		
http://purl.obolibrary.org/obo/UBERON_0000991	gonad	http://purl.obolibrary.org/obo/UBERON_0003133	reproductive organ		
http://purl.obolibrary.org/obo/UBERON_0001174	common bile duct	http://purl.obolibrary.org/obo/UBERON_0003703	extrahepatic bile duct		
http://purl.obolibrary.org/obo/UBERON_0000460	major vestibular gland	http://purl.obolibrary.org/obo/UBERON_0019319	exocrine gland of integumental system		
http://purl.obolibrary.org/obo/UBERON_0001629	carotid body	http://purl.obolibrary.org/obo/UBERON_0034979	nonchromaffin paraganglion		
http://purl.obolibrary.org/obo/UBERON_0000411	visual cortex	http://purl.obolibrary.org/obo/UBERON_8440011	cortical visual area		
http://purl.obolibrary.org/obo/UBERON_0001633	basilar artery	http://purl.obolibrary.org/obo/UBERON_0004573	systemic artery		
http://purl.obolibrary.org/obo/UBERON_0005431	anterior spinal artery	http://purl.obolibrary.org/obo/UBERON_0002458	spinal artery		
http://purl.obolibrary.org/obo/UBERON_0002019	accessory XI nerve	http://purl.obolibrary.org/obo/UBERON_0001021	nerve		
http://purl.obolibrary.org/obo/NCBITaxon_5759	Entamoeba histolytica	http://purl.obolibrary.org/obo/NCBITaxon_5758	Entamoeba		
http://purl.obolibrary.org/obo/NCBITaxon_140438	Aedes japonicus	http://purl.obolibrary.org/obo/NCBITaxon_53542	Finlaya		
http://purl.obolibrary.org/obo/NCBITaxon_119158	Gnathostomatidae	http://purl.obolibrary.org/obo/NCBITaxon_61462	Gnathostomatoidea		
http://purl.obolibrary.org/obo/NCBITaxon_1716	Corynebacterium	http://purl.obolibrary.org/obo/NCBITaxon_1653	Corynebacteriaceae		
http://purl.obolibrary.org/obo/NCBITaxon_5475	Candida	http://purl.obolibrary.org/obo/NCBITaxon_1535325	Candida/Lodderomyces clade		
http://purl.obolibrary.org/obo/NCBITaxon_6197	Opisthorchis	http://purl.obolibrary.org/obo/NCBITaxon_6196	Opisthorchiidae		
http://purl.obolibrary.org/obo/NCBITaxon_5864	Babesia	http://purl.obolibrary.org/obo/NCBITaxon_32594	Babesiidae		
http://purl.obolibrary.org/obo/NCBITaxon_53469	Ancylostomatinae	http://purl.obolibrary.org/obo/NCBITaxon_33278	Ancylostomatidae		
http://purl.obolibrary.org/obo/HP_0002617	Vascular dilatation	http://purl.obolibrary.org/obo/HP_0033353	Abnormal blood vessel morphology		
http://purl.obolibrary.org/obo/NCBITaxon_2946639	Orthohepevirinae	http://purl.obolibrary.org/obo/NCBITaxon_3079366	Hepeviridae		
http://purl.obolibrary.org/obo/NCBITaxon_3151837	Elliovirales	http://purl.obolibrary.org/obo/NCBITaxon_3151693	Bunyaviricetes		
http://purl.obolibrary.org/obo/CHEBI_9774	tubocurarine	http://purl.obolibrary.org/obo/CHEBI_133004	bisbenzylisoquinoline alkaloid		
http://purl.obolibrary.org/obo/CHEBI_24921	isoquinoline alkaloid	http://purl.obolibrary.org/obo/CHEBI_22315	alkaloid		
http://purl.obolibrary.org/obo/CHEBI_26509	quinoline alkaloid	http://purl.obolibrary.org/obo/CHEBI_22315	alkaloid		
http://purl.obolibrary.org/obo/CHEBI_22562	anilines	http://purl.obolibrary.org/obo/CHEBI_33860	aromatic amine		
http://purl.obolibrary.org/obo/CHEBI_23132	chlorobenzenes	http://purl.obolibrary.org/obo/CHEBI_36683	organochlorine compound		
http://purl.obolibrary.org/obo/CHEBI_6456	lidocaine	http://purl.obolibrary.org/obo/CHEBI_50996	tertiary amino compound		
http://purl.obolibrary.org/obo/CHEBI_15365	acetylsalicylic acid	http://purl.obolibrary.org/obo/CHEBI_140310	phenyl acetates		
http://purl.obolibrary.org/obo/CHEBI_30746	benzoic acid	http://purl.obolibrary.org/obo/CHEBI_22723	benzoic acids		
http://purl.obolibrary.org/obo/CHEBI_35627	beta-lactam	http://purl.obolibrary.org/obo/CHEBI_24995	lactam		
http://purl.obolibrary.org/obo/CHEBI_9362	suprofen	http://purl.obolibrary.org/obo/CHEBI_76224	aromatic ketone		
http://purl.obolibrary.org/obo/CHEBI_35286	iminium ion	http://purl.obolibrary.org/obo/CHEBI_25697	organic cation		
http://purl.obolibrary.org/obo/CHEBI_35267	quaternary ammonium ion	http://purl.obolibrary.org/obo/CHEBI_35274	ammonium ion derivative		
http://purl.obolibrary.org/obo/CHEBI_48592	piperidinecarboxamide	http://purl.obolibrary.org/obo/CHEBI_29347	monocarboxylic acid amide		
http://purl.obolibrary.org/obo/CHEBI_59001	4-vinylcyclohexene dioxide	http://purl.obolibrary.org/obo/CHEBI_32955	epoxide		
http://purl.obolibrary.org/obo/CHEBI_25000	lactone	http://purl.obolibrary.org/obo/CHEBI_35701	ester		
http://purl.obolibrary.org/obo/CHEBI_47622	acetate ester	http://purl.obolibrary.org/obo/CHEBI_33308	carboxylic ester		
http://purl.obolibrary.org/obo/CHEBI_2674	amodiaquine	http://purl.obolibrary.org/obo/CHEBI_50996	tertiary amino compound		
http://purl.obolibrary.org/obo/CHEBI_38338	aminopyrimidine	http://purl.obolibrary.org/obo/CHEBI_39447	pyrimidines		
http://purl.obolibrary.org/obo/CHEBI_37598	nitrogen mustard	http://purl.obolibrary.org/obo/CHEBI_35352	organonitrogen compound		
http://purl.obolibrary.org/obo/CHEBI_50047	organic amino compound	http://purl.obolibrary.org/obo/CHEBI_50860	organic molecular entity		
http://purl.obolibrary.org/obo/CHEBI_35951	dioxo monocarboxylic acid	http://purl.obolibrary.org/obo/CHEBI_35871	oxo monocarboxylic acid		
http://purl.obolibrary.org/obo/CHEBI_25698	ether	http://purl.obolibrary.org/obo/CHEBI_36963	organooxygen compound		
http://purl.obolibrary.org/obo/CHEBI_7939	parthenolide	http://purl.obolibrary.org/obo/CHEBI_37667	sesquiterpene lactone		
http://purl.obolibrary.org/obo/CHEBI_27561	oxirane	http://purl.obolibrary.org/obo/CHEBI_138675	gas molecular entity		
http://purl.obolibrary.org/obo/CHEBI_18059	lipid	http://purl.obolibrary.org/obo/CHEBI_50860	organic molecular entity		
http://purl.obolibrary.org/obo/CHEBI_33245	organic fundamental parent	http://purl.obolibrary.org/obo/CHEBI_37175	organic hydride		
http://purl.obolibrary.org/obo/CHEBI_33285	heteroorganic entity	http://purl.obolibrary.org/obo/CHEBI_50860	organic molecular entity		
http://purl.obolibrary.org/obo/CHEBI_64708	one-carbon compound	http://purl.obolibrary.org/obo/CHEBI_50860	organic molecular entity		
http://purl.obolibrary.org/obo/CHEBI_24628	imidazolidine-2,4-dione	http://purl.obolibrary.org/obo/CHEBI_55370	imidazolidinone		
http://purl.obolibrary.org/obo/CHEBI_22726	benzophenones	http://purl.obolibrary.org/obo/CHEBI_76224	aromatic ketone		
http://purl.obolibrary.org/obo/CHEBI_22527	aminopurine	http://purl.obolibrary.org/obo/CHEBI_26401	purines		
http://purl.obolibrary.org/obo/CHEBI_29864	mannitol	http://purl.obolibrary.org/obo/CHEBI_24583	hexitol		
http://purl.obolibrary.org/obo/CHEBI_17334	penicillin	http://purl.obolibrary.org/obo/CHEBI_25865	penicillanic acids		
http://purl.obolibrary.org/obo/CHEBI_17102	phosphoramide	http://purl.obolibrary.org/obo/CHEBI_33256	primary amide		
http://purl.obolibrary.org/obo/CHEBI_488385	alcuronium bromide	http://purl.obolibrary.org/obo/CHEBI_48369	organic bromide salt		
http://purl.obolibrary.org/obo/CHEBI_16646	carbohydrate	http://purl.obolibrary.org/obo/CHEBI_78616	carbohydrates and carbohydrate derivatives		
http://purl.obolibrary.org/obo/CHEBI_47022	tetrahydrofurandione	http://purl.obolibrary.org/obo/CHEBI_47016	tetrahydrofuranone		
http://purl.obolibrary.org/obo/CHEBI_51959	organic tricyclic compound	http://purl.obolibrary.org/obo/CHEBI_51958	organic polycyclic compound		
http://purl.obolibrary.org/obo/CHEBI_83811	proteinogenic amino acid derivative	http://purl.obolibrary.org/obo/CHEBI_83821	amino-acid derivative		
http://purl.obolibrary.org/obo/CHEBI_33552	sulfonic acid derivative	http://purl.obolibrary.org/obo/CHEBI_33424	sulfur oxoacid derivative		
http://purl.obolibrary.org/obo/CHEBI_33675	p-block molecular entity	http://purl.obolibrary.org/obo/CHEBI_33579	main group molecular entity		
http://purl.obolibrary.org/obo/CHEBI_5686	heterocyclic compound	http://purl.obolibrary.org/obo/CHEBI_33595	cyclic compound		
http://purl.obolibrary.org/obo/CHEBI_33296	alkali metal molecular entity	http://purl.obolibrary.org/obo/CHEBI_33674	s-block molecular entity		
http://purl.obolibrary.org/obo/CHEBI_33608	hydrogen molecular entity	http://purl.obolibrary.org/obo/CHEBI_33674	s-block molecular entity		
http://purl.obolibrary.org/obo/CHEBI_37176	mononuclear parent hydride	http://purl.obolibrary.org/obo/CHEBI_33692	hydrides		
http://purl.obolibrary.org/obo/CHEBI_33249	organyl group	http://purl.obolibrary.org/obo/CHEBI_51447	organic univalent group		
http://purl.obolibrary.org/obo/CHEBI_60004	mixture	http://purl.obolibrary.org/obo/CHEBI_59999	chemical substance		
http://purl.obolibrary.org/obo/HP_0010917	Abnormal circulating tyrosine concentration	http://purl.obolibrary.org/obo/HP_0004338	Abnormal circulating aromatic amino acid concentration		
http://purl.obolibrary.org/obo/HP_0004341	Abnormality of vitamin B12 metabolism	http://purl.obolibrary.org/obo/HP_0004340	Abnormality of vitamin B metabolism		
http://purl.obolibrary.org/obo/HP_0034233	Disc kidney	http://purl.obolibrary.org/obo/HP_0004736	Crossed fused renal ectopia		
http://purl.obolibrary.org/obo/HP_0009804	Tooth agenesis	http://purl.obolibrary.org/obo/HP_0006483	Abnormal number of teeth		
http://purl.obolibrary.org/obo/HP_0001397	Hepatic steatosis	http://purl.obolibrary.org/obo/HP_0006561	Lipid accumulation in hepatocytes		
http://purl.obolibrary.org/obo/HP_0009826	Limb undergrowth	http://purl.obolibrary.org/obo/HP_0009815	Aplasia/hypoplasia of the extremities		
http://purl.obolibrary.org/obo/HP_0010946	Dilatation of the renal pelvis	http://purl.obolibrary.org/obo/HP_0010944	Abnormal renal pelvis morphology		
http://purl.obolibrary.org/obo/HP_0012718	Abnormal gastrointestinal tract morphology	http://purl.obolibrary.org/obo/HP_0025033	Abnormal digestive system morphology		
http://purl.obolibrary.org/obo/HP_0011283	Abnormal metencephalon morphology	http://purl.obolibrary.org/obo/HP_0011282	Abnormal hindbrain morphology		
http://purl.obolibrary.org/obo/HP_0100689	Decreased corneal thickness	http://purl.obolibrary.org/obo/HP_0011486	Abnormal corneal thickness		
http://purl.obolibrary.org/obo/HP_0011873	Abnormal platelet count	http://purl.obolibrary.org/obo/HP_0011875	Abnormal platelet morphology		
http://purl.obolibrary.org/obo/HP_0004360	Abnormality of acid-base homeostasis	http://purl.obolibrary.org/obo/HP_0012337	Abnormal homeostasis		
http://purl.obolibrary.org/obo/HP_0011014	Abnormal glucose homeostasis	http://purl.obolibrary.org/obo/HP_0012337	Abnormal homeostasis		
http://purl.obolibrary.org/obo/HP_0011032	Abnormality of fluid regulation	http://purl.obolibrary.org/obo/HP_0012337	Abnormal homeostasis		
http://purl.obolibrary.org/obo/NCBITaxon_10239	Viruses	http://purl.obolibrary.org/obo/NCBITaxon_1	ncbitaxon		
http://purl.obolibrary.org/obo/NCBITaxon_10245	Orthopoxvirus vaccinia	http://purl.obolibrary.org/obo/NCBITaxon_10242	Orthopoxvirus		
http://purl.obolibrary.org/obo/NCBITaxon_7180	Haemagogus <genus>	http://purl.obolibrary.org/obo/NCBITaxon_1056966	Aedini		
http://purl.obolibrary.org/obo/NCBITaxon_28450	Burkholderia pseudomallei	http://purl.obolibrary.org/obo/NCBITaxon_111527	pseudomallei group		
http://purl.obolibrary.org/obo/NCBITaxon_186537	Marburgvirus	http://purl.obolibrary.org/obo/NCBITaxon_11266	Filoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_197911	Alphainfluenzavirus	http://purl.obolibrary.org/obo/NCBITaxon_11308	Orthomyxoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_197912	Betainfluenzavirus	http://purl.obolibrary.org/obo/NCBITaxon_11308	Orthomyxoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_197913	Gammainfluenzavirus	http://purl.obolibrary.org/obo/NCBITaxon_11308	Orthomyxoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_3052666	Phlebovirus napoliense	http://purl.obolibrary.org/obo/NCBITaxon_11584	Phlebovirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052681	Phlebovirus siciliaense	http://purl.obolibrary.org/obo/NCBITaxon_11584	Phlebovirus		
http://purl.obolibrary.org/obo/NCBITaxon_348386	unclassified Lentivirus	http://purl.obolibrary.org/obo/NCBITaxon_11646	Lentivirus		
http://purl.obolibrary.org/obo/NCBITaxon_2946630	Ensavirinae	http://purl.obolibrary.org/obo/NCBITaxon_12058	Picornaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_2946633	Heptrevirinae	http://purl.obolibrary.org/obo/NCBITaxon_12058	Picornaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_5658	Leishmania <genus>	http://purl.obolibrary.org/obo/NCBITaxon_1286322	Leishmaniinae		
http://purl.obolibrary.org/obo/NCBITaxon_3239873	Dipodascomycetes	http://purl.obolibrary.org/obo/NCBITaxon_147537	Saccharomycotina		
http://purl.obolibrary.org/obo/NCBITaxon_1502	Clostridium perfringens	http://purl.obolibrary.org/obo/NCBITaxon_1485	Clostridium		
http://purl.obolibrary.org/obo/NCBITaxon_632	Yersinia pestis	http://purl.obolibrary.org/obo/NCBITaxon_1649845	Yersinia pseudotuberculosis complex		
http://purl.obolibrary.org/obo/NCBITaxon_2948570	Poodinae	http://purl.obolibrary.org/obo/NCBITaxon_1652081	Poeae Chloroplast Group 2 (Poeae type)		
http://purl.obolibrary.org/obo/NCBITaxon_2022411	unclassified Mammarenavirus	http://purl.obolibrary.org/obo/NCBITaxon_1653394	Mammarenavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052299	Mammarenavirus brazilense	http://purl.obolibrary.org/obo/NCBITaxon_1653394	Mammarenavirus		
http://purl.obolibrary.org/obo/NCBITaxon_1655	Actinomyces naeslundii	http://purl.obolibrary.org/obo/NCBITaxon_1654	Actinomyces		
http://purl.obolibrary.org/obo/NCBITaxon_1656	Actinomyces viscosus	http://purl.obolibrary.org/obo/NCBITaxon_1654	Actinomyces		
http://purl.obolibrary.org/obo/NCBITaxon_1659	Actinomyces israelii	http://purl.obolibrary.org/obo/NCBITaxon_1654	Actinomyces		
http://purl.obolibrary.org/obo/NCBITaxon_52769	Actinomyces gerencseriae	http://purl.obolibrary.org/obo/NCBITaxon_1654	Actinomyces		
http://purl.obolibrary.org/obo/NCBITaxon_171	Leptospira	http://purl.obolibrary.org/obo/NCBITaxon_170	Leptospiraceae		
http://purl.obolibrary.org/obo/NCBITaxon_2993898	Mycobacterium ulcerans group	http://purl.obolibrary.org/obo/NCBITaxon_1763	Mycobacterium		
http://purl.obolibrary.org/obo/NCBITaxon_555864	unclassified Bornaviridae	http://purl.obolibrary.org/obo/NCBITaxon_178830	Bornaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_1824	Nocardia asteroides	http://purl.obolibrary.org/obo/NCBITaxon_1817	Nocardia		
http://purl.obolibrary.org/obo/NCBITaxon_2315720	Trochida	http://purl.obolibrary.org/obo/NCBITaxon_216275	Vetigastropoda		
http://purl.obolibrary.org/obo/NCBITaxon_263	Francisella tularensis	http://purl.obolibrary.org/obo/NCBITaxon_262	Francisella		
http://purl.obolibrary.org/obo/NCBITaxon_2611341	Metamonada	http://purl.obolibrary.org/obo/NCBITaxon_2759	Eukaryota		
http://purl.obolibrary.org/obo/NCBITaxon_87882	Burkholderia cepacia complex	http://purl.obolibrary.org/obo/NCBITaxon_32008	Burkholderia		
http://purl.obolibrary.org/obo/NCBITaxon_33184	Onygenaceae	http://purl.obolibrary.org/obo/NCBITaxon_33183	Onygenales		
http://purl.obolibrary.org/obo/NCBITaxon_6250	Ascarididae	http://purl.obolibrary.org/obo/NCBITaxon_33256	Ascaridoidea		
http://purl.obolibrary.org/obo/NCBITaxon_34392	Microsporum	http://purl.obolibrary.org/obo/NCBITaxon_34384	Arthrodermataceae		
http://purl.obolibrary.org/obo/NCBITaxon_30639	Mastomys	http://purl.obolibrary.org/obo/NCBITaxon_39107	Murinae		
http://purl.obolibrary.org/obo/NCBITaxon_2844074	Deltavirus italiense	http://purl.obolibrary.org/obo/NCBITaxon_39759	Deltavirus		
http://purl.obolibrary.org/obo/NCBITaxon_7164	Anopheles <genus>	http://purl.obolibrary.org/obo/NCBITaxon_43816	Anophelinae		
http://purl.obolibrary.org/obo/NCBITaxon_254792	Mansoniini	http://purl.obolibrary.org/obo/NCBITaxon_43817	Culicinae		
http://purl.obolibrary.org/obo/NCBITaxon_1173061	Geotrichum candidum	http://purl.obolibrary.org/obo/NCBITaxon_43987	Geotrichum		
http://purl.obolibrary.org/obo/NCBITaxon_485	Neisseria gonorrhoeae	http://purl.obolibrary.org/obo/NCBITaxon_482	Neisseria		
http://purl.obolibrary.org/obo/NCBITaxon_53551	Sabethes	http://purl.obolibrary.org/obo/NCBITaxon_53549	Sabethini		
http://purl.obolibrary.org/obo/NCBITaxon_2662056	Retaria	http://purl.obolibrary.org/obo/NCBITaxon_543769	Rhizaria		
http://purl.obolibrary.org/obo/NCBITaxon_5690	Trypanosoma	http://purl.obolibrary.org/obo/NCBITaxon_5654	Trypanosomatidae		
http://purl.obolibrary.org/obo/NCBITaxon_39824	Klebsiella granulomatis	http://purl.obolibrary.org/obo/NCBITaxon_570	Klebsiella		
http://purl.obolibrary.org/obo/NCBITaxon_5811	Toxoplasma gondii	http://purl.obolibrary.org/obo/NCBITaxon_5810	Toxoplasma		
http://purl.obolibrary.org/obo/NCBITaxon_27458	Chrysops	http://purl.obolibrary.org/obo/NCBITaxon_59848	Chrysopsini		
http://purl.obolibrary.org/obo/NCBITaxon_27973	Encephalitozoon hellem	http://purl.obolibrary.org/obo/NCBITaxon_6033	Encephalitozoon		
http://purl.obolibrary.org/obo/NCBITaxon_58839	Encephalitozoon intestinalis	http://purl.obolibrary.org/obo/NCBITaxon_6033	Encephalitozoon		
http://purl.obolibrary.org/obo/NCBITaxon_6035	Encephalitozoon cuniculi	http://purl.obolibrary.org/obo/NCBITaxon_6033	Encephalitozoon		
http://purl.obolibrary.org/obo/NCBITaxon_6214	Hymenolepididae	http://purl.obolibrary.org/obo/NCBITaxon_6201	Cyclophyllidea		
http://purl.obolibrary.org/obo/NCBITaxon_6271	Pseudoterranova decipiens	http://purl.obolibrary.org/obo/NCBITaxon_6270	Pseudoterranova		
http://purl.obolibrary.org/obo/NCBITaxon_6269	Anisakis simplex	http://purl.obolibrary.org/obo/NCBITaxon_644710	Anisakis simplex complex		
http://purl.obolibrary.org/obo/NCBITaxon_2172821	Multicrustacea	http://purl.obolibrary.org/obo/NCBITaxon_6657	Crustacea		
http://purl.obolibrary.org/obo/NCBITaxon_600346	Portuninae	http://purl.obolibrary.org/obo/NCBITaxon_6757	Portunidae		
http://purl.obolibrary.org/obo/NCBITaxon_2945031	Ornithodorinae	http://purl.obolibrary.org/obo/NCBITaxon_6936	Argasidae		
http://purl.obolibrary.org/obo/NCBITaxon_12939	Anemia	http://purl.obolibrary.org/obo/NCBITaxon_693766	Anemiaceae		
http://purl.obolibrary.org/obo/NCBITaxon_426437	Rhipicephalinae	http://purl.obolibrary.org/obo/NCBITaxon_6939	Ixodidae		
http://purl.obolibrary.org/obo/NCBITaxon_723	Actinobacillus ureae	http://purl.obolibrary.org/obo/NCBITaxon_713	Actinobacillus		
http://purl.obolibrary.org/obo/NCBITaxon_1773	Mycobacterium tuberculosis	http://purl.obolibrary.org/obo/NCBITaxon_77643	Mycobacterium tuberculosis complex		
http://purl.obolibrary.org/obo/UBERON_0007616	layer of synovial tissue	http://purl.obolibrary.org/obo/UBERON_0000042	serous membrane		
http://purl.obolibrary.org/obo/UBERON_0007329	pancreatic duct	http://purl.obolibrary.org/obo/UBERON_0004119	endoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0002486	glottis	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0000057	urethra	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0001173	biliary tree	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0001987	placenta	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0002411	clitoris	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0000458	endocervix	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0001224	renal pelvis	http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit		
http://purl.obolibrary.org/obo/UBERON_0001869	cerebral hemisphere	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0006059	falx cerebri	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0036263	supraglottic part of larynx	http://purl.obolibrary.org/obo/UBERON_0000072	proximo-distal subdivision of respiratory tract		
http://purl.obolibrary.org/obo/UBERON_0036068	subglottis	http://purl.obolibrary.org/obo/UBERON_0000072	proximo-distal subdivision of respiratory tract		
http://purl.obolibrary.org/obo/UBERON_0001557	upper respiratory tract	http://purl.obolibrary.org/obo/UBERON_0000072	proximo-distal subdivision of respiratory tract		
http://purl.obolibrary.org/obo/UBERON_0001728	nasopharynx	http://purl.obolibrary.org/obo/UBERON_0000072	proximo-distal subdivision of respiratory tract		
http://purl.obolibrary.org/obo/UBERON_0003129	skull	http://purl.obolibrary.org/obo/UBERON_0000075	subdivision of skeletal system		
http://purl.obolibrary.org/obo/UBERON_0003074	mesonephric duct	http://purl.obolibrary.org/obo/UBERON_0012275	meso-epithelium		
http://purl.obolibrary.org/obo/UBERON_0002364	tympanic membrane	http://purl.obolibrary.org/obo/UBERON_0000094	membrane organ		
http://purl.obolibrary.org/obo/UBERON_0001814	brachial nerve plexus	http://purl.obolibrary.org/obo/UBERON_0001813	spinal nerve plexus		
http://purl.obolibrary.org/obo/UBERON_0001156	ascending colon	http://purl.obolibrary.org/obo/UBERON_0000168	proximal-distal subdivision of colon		
http://purl.obolibrary.org/obo/UBERON_0001157	transverse colon	http://purl.obolibrary.org/obo/UBERON_0000168	proximal-distal subdivision of colon		
http://purl.obolibrary.org/obo/UBERON_0000017	exocrine pancreas	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0001771	pupil	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0000974	neck	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0002030	nipple	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0002371	bone marrow	http://purl.obolibrary.org/obo/UBERON_0000479	tissue		
http://purl.obolibrary.org/obo/UBERON_0002385	muscle tissue	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0001769	iris	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0001775	ciliary body	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0002348	epicardium	http://purl.obolibrary.org/obo/UBERON_0000481	multi-tissue structure		
http://purl.obolibrary.org/obo/UBERON_0014385	aryepiglottic fold	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0018707	bladder organ	http://purl.obolibrary.org/obo/UBERON_0009856	sac		
http://purl.obolibrary.org/obo/UBERON_0001236	adrenal medulla	http://purl.obolibrary.org/obo/UBERON_0010313	neural crest-derived structure		
http://purl.obolibrary.org/obo/UBERON_0001785	cranial nerve	http://purl.obolibrary.org/obo/UBERON_0034713	cranial neuron projection bundle		
http://purl.obolibrary.org/obo/UBERON_0001456	face	http://purl.obolibrary.org/obo/UBERON_0001444	subdivision of head		
http://purl.obolibrary.org/obo/UBERON_0001691	external ear	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0001757	pinna	http://purl.obolibrary.org/obo/UBERON_0001444	subdivision of head		
http://purl.obolibrary.org/obo/UBERON_0003679	mouth floor	http://purl.obolibrary.org/obo/UBERON_0001444	subdivision of head		
http://purl.obolibrary.org/obo/UBERON_0002495	long bone	http://purl.obolibrary.org/obo/UBERON_0001474	bone element		
http://purl.obolibrary.org/obo/UBERON_0000002	uterine cervix	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0001832	sublingual gland	http://purl.obolibrary.org/obo/UBERON_0001829	major salivary gland		
http://purl.obolibrary.org/obo/UBERON_0001235	adrenal cortex	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0010996	articular cartilage of joint	http://purl.obolibrary.org/obo/UBERON_0001994	hyaline cartilage tissue		
http://purl.obolibrary.org/obo/UBERON_0001264	pancreas	http://purl.obolibrary.org/obo/UBERON_0002075	viscus		
http://purl.obolibrary.org/obo/UBERON_0002135	mitral valve	http://purl.obolibrary.org/obo/UBERON_0002133	atrioventricular valve		
http://purl.obolibrary.org/obo/UBERON_0008822	posterior mediastinum	http://purl.obolibrary.org/obo/UBERON_0002224	thoracic cavity		
http://purl.obolibrary.org/obo/UBERON_0000004	nose	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0000391	leptomeninx	http://purl.obolibrary.org/obo/UBERON_0002360	meninx		
http://purl.obolibrary.org/obo/UBERON_0003292	meninx of spinal cord	http://purl.obolibrary.org/obo/UBERON_0005174	dorsal region element		
http://purl.obolibrary.org/obo/UBERON_0001817	lacrimal gland	http://purl.obolibrary.org/obo/UBERON_0015154	lateral gland of orbital region		
http://purl.obolibrary.org/obo/UBERON_0008974	apocrine gland	http://purl.obolibrary.org/obo/UBERON_0002365	exocrine gland		
http://purl.obolibrary.org/obo/UBERON_0008883	osteoid	http://purl.obolibrary.org/obo/UBERON_0002481	bone tissue		
http://purl.obolibrary.org/obo/UBERON_0001684	mandible	http://purl.obolibrary.org/obo/UBERON_0004742	dentary		
http://purl.obolibrary.org/obo/UBERON_0006052	digit 5	http://purl.obolibrary.org/obo/UBERON_0019221	digit 1 or 5		
http://purl.obolibrary.org/obo/UBERON_0000402	nasal vestibule	http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity		
http://purl.obolibrary.org/obo/UBERON_0001893	cerebrum	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0001894	diencephalon	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0002037	cerebellum	http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain		
http://purl.obolibrary.org/obo/UBERON_0002434	pituitary stalk	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0014908	cerebellopontine angle	http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain		
http://purl.obolibrary.org/obo/UBERON_0004720	cerebellar vermis	http://purl.obolibrary.org/obo/UBERON_0002749	regional part of cerebellar cortex		
http://purl.obolibrary.org/obo/UBERON_0001905	pineal body	http://purl.obolibrary.org/obo/UBERON_0010134	secretory circumventricular organ		
http://purl.obolibrary.org/obo/UBERON_0002198	neurohypophysis	http://purl.obolibrary.org/obo/UBERON_0010134	secretory circumventricular organ		
http://purl.obolibrary.org/obo/UBERON_0001267	femoral nerve	http://purl.obolibrary.org/obo/UBERON_0003431	leg nerve		
http://purl.obolibrary.org/obo/UBERON_0001621	coronary artery	http://purl.obolibrary.org/obo/UBERON_0004573	systemic artery		
http://purl.obolibrary.org/obo/UBERON_0000947	aorta	http://purl.obolibrary.org/obo/UBERON_0013768	great vessel of heart		
http://purl.obolibrary.org/obo/UBERON_0002420	basal ganglion	http://purl.obolibrary.org/obo/UBERON_0007245	nuclear complex of neuraxis		
http://purl.obolibrary.org/obo/UBERON_0001828	gingiva	http://purl.obolibrary.org/obo/UBERON_0003729	mouth mucosa		
http://purl.obolibrary.org/obo/UBERON_0006956	buccal mucosa	http://purl.obolibrary.org/obo/UBERON_0003729	mouth mucosa		
http://purl.obolibrary.org/obo/UBERON_0001638	vein	http://purl.obolibrary.org/obo/UBERON_0003920	venous blood vessel		
http://purl.obolibrary.org/obo/UBERON_0001886	choroid plexus	http://purl.obolibrary.org/obo/UBERON_0036303	vasculature of central nervous system		
http://purl.obolibrary.org/obo/UBERON_0004086	brain ventricle	http://purl.obolibrary.org/obo/UBERON_0005358	ventricle of nervous system		
http://purl.obolibrary.org/obo/UBERON_0000946	cardiac valve	http://purl.obolibrary.org/obo/UBERON_0010313	neural crest-derived structure		
http://purl.obolibrary.org/obo/UBERON_0001585	anterior vena cava	http://purl.obolibrary.org/obo/UBERON_0004087	vena cava		
http://purl.obolibrary.org/obo/UBERON_0010185	rete ovarii	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0001601	extra-ocular muscle	http://purl.obolibrary.org/obo/UBERON_0010959	craniocervical muscle		
http://purl.obolibrary.org/obo/UBERON_0001734	palatine uvula	http://purl.obolibrary.org/obo/UBERON_0004529	anatomical projection		
http://purl.obolibrary.org/obo/UBERON_0005396	carotid artery segment	http://purl.obolibrary.org/obo/UBERON_0004573	systemic artery		
http://purl.obolibrary.org/obo/UBERON_0004886	lung hilus	http://purl.obolibrary.org/obo/UBERON_0004885	hilum		
http://purl.obolibrary.org/obo/UBERON_0000304	tendon sheath	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0001296	myometrium	http://purl.obolibrary.org/obo/UBERON_0034933	layer of smooth muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0001768	uvea	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0002067	dermis	http://purl.obolibrary.org/obo/UBERON_0013754	integumentary system layer		
http://purl.obolibrary.org/obo/UBERON_0002369	adrenal gland	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0000975	sternum	http://purl.obolibrary.org/obo/UBERON_0010363	endochondral element		
http://purl.obolibrary.org/obo/UBERON_0003712	cavernous sinus	http://purl.obolibrary.org/obo/UBERON_0005486	venous dural sinus		
http://purl.obolibrary.org/obo/UBERON_0001182	superior mesenteric artery	http://purl.obolibrary.org/obo/UBERON_0005616	mesenteric artery		
http://purl.obolibrary.org/obo/UBERON_0002137	aortic valve	http://purl.obolibrary.org/obo/UBERON_0005623	semi-lunar valve		
http://purl.obolibrary.org/obo/UBERON_0002146	pulmonary valve	http://purl.obolibrary.org/obo/UBERON_0005623	semi-lunar valve		
http://purl.obolibrary.org/obo/UBERON_0004108	clivus of occipital bone	http://purl.obolibrary.org/obo/UBERON_0005913	zone of bone organ		
http://purl.obolibrary.org/obo/UBERON_0002349	myocardium	http://purl.obolibrary.org/obo/UBERON_0018260	layer of muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0001797	vitreous humor	http://purl.obolibrary.org/obo/UBERON_0006312	ocular refractive media		
http://purl.obolibrary.org/obo/UBERON_0001232	collecting duct of renal tubule	http://purl.obolibrary.org/obo/UBERON_0006555	excretory tube		
http://purl.obolibrary.org/obo/UBERON_0001003	skin epidermis	http://purl.obolibrary.org/obo/UBERON_3000961	external integument structure		
http://purl.obolibrary.org/obo/UBERON_0000959	optic chiasma	http://purl.obolibrary.org/obo/UBERON_0007425	decussation of diencephalon		
http://purl.obolibrary.org/obo/UBERON_0001821	sebaceous gland	http://purl.obolibrary.org/obo/UBERON_0019319	exocrine gland of integumental system		
http://purl.obolibrary.org/obo/UBERON_0003720	anterior cranial fossa	http://purl.obolibrary.org/obo/UBERON_0008789	cranial fossa		
http://purl.obolibrary.org/obo/UBERON_0003722	middle cranial fossa	http://purl.obolibrary.org/obo/UBERON_0008789	cranial fossa		
http://purl.obolibrary.org/obo/UBERON_0008788	posterior cranial fossa	http://purl.obolibrary.org/obo/UBERON_0008789	cranial fossa		
http://purl.obolibrary.org/obo/UBERON_0000915	thoracic segment of trunk	http://purl.obolibrary.org/obo/UBERON_0011676	subdivision of organism along main body axis		
http://purl.obolibrary.org/obo/UBERON_0001161	body of stomach	http://purl.obolibrary.org/obo/UBERON_0009870	zone of stomach		
http://purl.obolibrary.org/obo/UBERON_0000403	scalp	http://purl.obolibrary.org/obo/UBERON_0034921	multi organ part structure		
http://purl.obolibrary.org/obo/UBERON_0001908	optic tract	http://purl.obolibrary.org/obo/UBERON_0011591	tract of diencephalon		
http://purl.obolibrary.org/obo/UBERON_0000033	head	http://purl.obolibrary.org/obo/UBERON_0011676	subdivision of organism along main body axis		
http://purl.obolibrary.org/obo/UBERON_0001754	dental pulp	http://purl.obolibrary.org/obo/UBERON_0011825	loose connective tissue		
http://purl.obolibrary.org/obo/UBERON_0002772	olfactory sulcus	http://purl.obolibrary.org/obo/UBERON_0013118	sulcus of brain		
http://purl.obolibrary.org/obo/UBERON_0000388	epiglottis	http://purl.obolibrary.org/obo/UBERON_0013522	subdivision of tube		
http://purl.obolibrary.org/obo/UBERON_0001729	oropharynx	http://purl.obolibrary.org/obo/UBERON_0013522	subdivision of tube		
http://purl.obolibrary.org/obo/UBERON_0003687	foramen magnum	http://purl.obolibrary.org/obo/UBERON_0013685	foramen of skull		
http://purl.obolibrary.org/obo/UBERON_0005456	jugular foramen	http://purl.obolibrary.org/obo/UBERON_0018321	foramen for glossopharyngeal nerve		
http://purl.obolibrary.org/obo/UBERON_0000021	cutaneous appendage	http://purl.obolibrary.org/obo/UBERON_0013703	integumentary projection		
http://purl.obolibrary.org/obo/UBERON_0015215	median arcuate ligament	http://purl.obolibrary.org/obo/UBERON_0015214	arcuate ligament		
http://purl.obolibrary.org/obo/UBERON_0001871	temporal lobe	http://purl.obolibrary.org/obo/UBERON_0016526	lobe of cerebral hemisphere		
http://purl.obolibrary.org/obo/UBERON_0002021	occipital lobe	http://purl.obolibrary.org/obo/UBERON_0016526	lobe of cerebral hemisphere		
http://purl.obolibrary.org/obo/UBERON_0022277	hepatic flexure of colon	http://purl.obolibrary.org/obo/UBERON_0022275	colic flexure		
http://purl.obolibrary.org/obo/UBERON_0001733	soft palate	http://purl.obolibrary.org/obo/UBERON_0034921	multi organ part structure		
http://purl.obolibrary.org/obo/UBERON_0001846	internal ear	http://purl.obolibrary.org/obo/UBERON_0034921	multi organ part structure		
http://purl.obolibrary.org/obo/UBERON_0003216	hard palate	http://purl.obolibrary.org/obo/UBERON_0034921	multi organ part structure		
http://purl.obolibrary.org/obo/UBERON_0010743	meningeal cluster	http://purl.obolibrary.org/obo/UBERON_0034925	anatomical collection		
http://purl.obolibrary.org/obo/UBERON_0000310	breast	http://purl.obolibrary.org/obo/UBERON_0034929	external soft tissue zone		
http://purl.obolibrary.org/obo/SYMP_0017795	hemic and immune system symptom	http://purl.obolibrary.org/obo/SYMP_0000462	symptom		
http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality	http://purl.obolibrary.org/obo/UPHENO_0001001	phenotype		
http://purl.obolibrary.org/obo/HP_0001263	Global developmental delay	http://purl.obolibrary.org/obo/HP_0012758	Neurodevelopmental delay		
http://purl.obolibrary.org/obo/HP_0000025	Functional abnormality of male internal genitalia	http://purl.obolibrary.org/obo/HP_0012874	Abnormal male reproductive system physiology		
http://purl.obolibrary.org/obo/HP_0025032	Abnormality of digestive system physiology	http://purl.obolibrary.org/obo/HP_0025031	Abnormality of the digestive system		
http://purl.obolibrary.org/obo/HP_0001438	Abnormal abdomen morphology	http://purl.obolibrary.org/obo/HP_0025031	Abnormality of the digestive system		
http://purl.obolibrary.org/obo/HP_0002012	Abnormality of the abdominal organs	http://purl.obolibrary.org/obo/HP_0025031	Abnormality of the digestive system		
http://purl.obolibrary.org/obo/HP_0004298	Abnormal abdominal wall morphology	http://purl.obolibrary.org/obo/HP_0025031	Abnormality of the digestive system		
http://purl.obolibrary.org/obo/HP_0001627	Abnormal heart morphology	http://purl.obolibrary.org/obo/HP_0030680	Abnormal cardiovascular system morphology		
http://purl.obolibrary.org/obo/HP_0000277	Abnormal mandible morphology	http://purl.obolibrary.org/obo/HP_0030791	Abnormal jaw morphology		
http://purl.obolibrary.org/obo/HP_0002579	Gastrointestinal dysmotility	http://purl.obolibrary.org/obo/HP_0030895	Abnormal gastrointestinal motility		
http://purl.obolibrary.org/obo/HP_0002814	Abnormality of the lower limb	http://purl.obolibrary.org/obo/HP_0040064	Abnormality of limbs		
http://purl.obolibrary.org/obo/HP_0002817	Abnormality of the upper limb	http://purl.obolibrary.org/obo/HP_0040064	Abnormality of limbs		
http://purl.obolibrary.org/obo/HP_0002823	Abnormal femur morphology	http://purl.obolibrary.org/obo/HP_0040069	Abnormal lower limb bone morphology		
http://purl.obolibrary.org/obo/HP_0000256	Macrocephaly	http://purl.obolibrary.org/obo/HP_0040194	Increased head circumference		
http://purl.obolibrary.org/obo/SO_0002392	increased_enzyme_activity_variant	http://purl.obolibrary.org/obo/SO_0001554	polypeptide_function_variant		
http://purl.obolibrary.org/obo/SO_0002214	redundant_inserted_stop_gained	http://purl.obolibrary.org/obo/SO_0001992	nonsynonymous_variant		
http://purl.obolibrary.org/obo/SO_0002399	inframe_unidirectional_gene_fusion	http://purl.obolibrary.org/obo/SO_0002085	unidirectional_gene_fusion		
http://purl.obolibrary.org/obo/SYMP_0000193	hopping	http://purl.obolibrary.org/obo/SYMP_0000189	postural reaction		
http://purl.obolibrary.org/obo/SYMP_0000194	conscious proprioception	http://purl.obolibrary.org/obo/SYMP_0000189	postural reaction		
http://purl.obolibrary.org/obo/NCBITaxon_63402	Nannizzia gypsea	http://purl.obolibrary.org/obo/NCBITaxon_1915381	Nannizzia		
http://purl.obolibrary.org/obo/HP_0010311	Aplasia/Hypoplasia of the breasts	http://purl.obolibrary.org/obo/HP_0031093	Abnormal breast morphology		
http://purl.obolibrary.org/obo/HP_0000722	Compulsive behaviors	http://purl.obolibrary.org/obo/HP_5200241	Recurrent maladaptive behavior		
http://purl.obolibrary.org/obo/CHEBI_51276	thioureas	http://purl.obolibrary.org/obo/CHEBI_50492	thiocarbonyl compound		
http://purl.obolibrary.org/obo/CHEBI_28112	nickel atom	http://purl.obolibrary.org/obo/CHEBI_88184	metal allergen		
http://purl.obolibrary.org/obo/CHEBI_36609	cyclic dicarboxylic anhydride	http://purl.obolibrary.org/obo/CHEBI_36607	cyclic acid anhydride		
http://purl.obolibrary.org/obo/NCBITaxon_34502	Troglotrematidae	http://purl.obolibrary.org/obo/NCBITaxon_116925	Troglotremata		
http://purl.obolibrary.org/obo/NCBITaxon_161	Treponema pallidum subsp. pallidum	http://purl.obolibrary.org/obo/NCBITaxon_160	Treponema pallidum		
http://purl.obolibrary.org/obo/NCBITaxon_36469	prion	http://purl.obolibrary.org/obo/NCBITaxon_12908	unclassified sequences		
http://purl.obolibrary.org/obo/NCBITaxon_31245	Schistosomatidae	http://purl.obolibrary.org/obo/NCBITaxon_31244	Schistosomatoidea		
http://purl.obolibrary.org/obo/SYMP_0000381	spleen abscess	http://purl.obolibrary.org/obo/SYMP_0000158	spleen symptom		
http://purl.obolibrary.org/obo/HP_0000163	Abnormal oral cavity morphology	http://purl.obolibrary.org/obo/HP_0031816	Abnormal oral morphology		
http://purl.obolibrary.org/obo/NCBITaxon_3052560	Orthorubulavirus parotitidis	http://purl.obolibrary.org/obo/NCBITaxon_2560195	Orthorubulavirus		
http://purl.obolibrary.org/obo/NCBITaxon_5739	Hexamitidae	http://purl.obolibrary.org/obo/NCBITaxon_5738	Diplomonadida		
http://purl.obolibrary.org/obo/SYMP_0000334	muscle necrosis	http://purl.obolibrary.org/obo/SYMP_0000183	muscle symptom		
http://purl.obolibrary.org/obo/SYMP_0000692	low blood pressure	http://purl.obolibrary.org/obo/SYMP_0020063	blood pressure		
http://purl.obolibrary.org/obo/SYMP_0000631	hemolytic anemia	http://purl.obolibrary.org/obo/SYMP_0000208	anemia		
http://purl.obolibrary.org/obo/SYMP_0000721	moderate anemia	http://purl.obolibrary.org/obo/SYMP_0000208	anemia		
http://purl.obolibrary.org/obo/SYMP_0000657	ischemic necrosis of jejunum	http://purl.obolibrary.org/obo/SYMP_0000725	necrosis of jejunum		
http://purl.obolibrary.org/obo/HP_0000070	Ureterocele	http://purl.obolibrary.org/obo/HP_0025633	Abnormal ureter morphology		
http://purl.obolibrary.org/obo/HP_0000072	Hydroureter	http://purl.obolibrary.org/obo/HP_0025633	Abnormal ureter morphology		
http://purl.obolibrary.org/obo/HP_0000073	Ureteral duplication	http://purl.obolibrary.org/obo/HP_0025633	Abnormal ureter morphology		
http://purl.obolibrary.org/obo/HP_0006000	Ureteral obstruction	http://purl.obolibrary.org/obo/HP_0025634	Abnormal ureter physiology		
http://purl.obolibrary.org/obo/NCBITaxon_10798	Human parvovirus B19	http://purl.obolibrary.org/obo/NCBITaxon_3052189	Erythroparvovirus primate1		
http://purl.obolibrary.org/obo/NCBITaxon_11089	Yellow fever virus	http://purl.obolibrary.org/obo/NCBITaxon_3046277	Orthoflavivirus flavi		
http://purl.obolibrary.org/obo/NCBITaxon_12542	Omsk hemorrhagic fever virus	http://purl.obolibrary.org/obo/NCBITaxon_3048233	Orthoflavivirus omskense		
http://purl.obolibrary.org/obo/NCBITaxon_28314	Aleutian mink disease parvovirus	http://purl.obolibrary.org/obo/NCBITaxon_3051624	Amdoparvovirus carnivoran1		
http://purl.obolibrary.org/obo/HP_0003119	Abnormal circulating lipid concentration	http://purl.obolibrary.org/obo/HP_0430071	Abnormal circulating organic compound concentration		
http://purl.obolibrary.org/obo/HP_0004354	Abnormal circulating carboxylic acid concentration	http://purl.obolibrary.org/obo/HP_0430071	Abnormal circulating organic compound concentration		
http://purl.obolibrary.org/obo/HP_0004364	Abnormal circulating nitrogen compound concentration	http://purl.obolibrary.org/obo/HP_0430071	Abnormal circulating organic compound concentration		
http://purl.obolibrary.org/obo/NCBITaxon_2916678	Serinales	http://purl.obolibrary.org/obo/NCBITaxon_3239874	Pichiomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_2072716	Spiruromorpha	http://purl.obolibrary.org/obo/NCBITaxon_6274	Spirurina		
http://purl.obolibrary.org/obo/NCBITaxon_6029	Microsporidia	http://purl.obolibrary.org/obo/NCBITaxon_112252	Fungi incertae sedis		
http://purl.obolibrary.org/obo/NCBITaxon_641	Vibrionaceae	http://purl.obolibrary.org/obo/NCBITaxon_135623	Vibrionales		
http://purl.obolibrary.org/obo/NCBITaxon_6296	Onchocercidae	http://purl.obolibrary.org/obo/NCBITaxon_6295	Filarioidea		
http://purl.obolibrary.org/obo/NCBITaxon_5721	Trichomonas	http://purl.obolibrary.org/obo/NCBITaxon_181550	Trichomonadidae		
http://purl.obolibrary.org/obo/NCBITaxon_5806	Cryptosporidium	http://purl.obolibrary.org/obo/NCBITaxon_35082	Cryptosporidiidae		
http://purl.obolibrary.org/obo/SYMP_0000221	absence of knee jerk reflex	http://purl.obolibrary.org/obo/SYMP_0000220	areflexia		
http://purl.obolibrary.org/obo/SYMP_0000257	absent gag reflex	http://purl.obolibrary.org/obo/SYMP_0000220	areflexia		
http://purl.obolibrary.org/obo/HP_0000095	Abnormal renal glomerulus morphology	http://purl.obolibrary.org/obo/HP_0031263	Abnormal renal corpuscle morphology		
http://purl.obolibrary.org/obo/HP_0001718	Mitral stenosis	http://purl.obolibrary.org/obo/HP_0031481	Abnormal mitral valve physiology		
http://purl.obolibrary.org/obo/CHEBI_24431	chemical entity	http://purl.obolibrary.org/obo/doid#chebi	chebi		
http://purl.obolibrary.org/obo/CHEBI_50906	role	http://purl.obolibrary.org/obo/doid#chebi	chebi		
http://purl.obolibrary.org/obo/NCBITaxon_33084	Entamoebidae	http://purl.obolibrary.org/obo/NCBITaxon_2682482	Mastigamoebida		
http://purl.obolibrary.org/obo/NCBITaxon_11036	Venezuelan equine encephalitis virus	http://purl.obolibrary.org/obo/NCBITaxon_3426322	Alphavirus venezuelan		
http://purl.obolibrary.org/obo/NCBITaxon_11676	Human immunodeficiency virus 1	http://purl.obolibrary.org/obo/NCBITaxon_3418650	Lentivirus humimdef1		
http://purl.obolibrary.org/obo/NCBITaxon_11709	Human immunodeficiency virus 2	http://purl.obolibrary.org/obo/NCBITaxon_3418651	Lentivirus humimdef2		
http://purl.obolibrary.org/obo/NCBITaxon_129726	Pseudocowpox virus	http://purl.obolibrary.org/obo/NCBITaxon_3431390	Parapoxvirus pseudocowpox		
http://purl.obolibrary.org/obo/CL_0001067	group 1 innate lymphoid cell	http://purl.obolibrary.org/obo/CL_0001065	innate lymphoid cell		
http://purl.obolibrary.org/obo/HP_0031515	Abnormal meiosis	http://purl.obolibrary.org/obo/HP_0033337	Abnormal gametogenesis		
http://purl.obolibrary.org/obo/HP_0034914	Oocyte maturation arrest	http://purl.obolibrary.org/obo/HP_0033338	Abnormal female meiosis		
http://purl.obolibrary.org/obo/NCBITaxon_10298	Human alphaherpesvirus 1	http://purl.obolibrary.org/obo/NCBITaxon_3050292	Simplexvirus humanalpha1		
http://purl.obolibrary.org/obo/NCBITaxon_10310	Human alphaherpesvirus 2	http://purl.obolibrary.org/obo/NCBITaxon_3050293	Simplexvirus humanalpha2		
http://purl.obolibrary.org/obo/NCBITaxon_10335	Human alphaherpesvirus 3	http://purl.obolibrary.org/obo/NCBITaxon_3050294	Varicellovirus humanalpha3		
http://purl.obolibrary.org/obo/HP_0040253	Increased size of the clitoris	http://purl.obolibrary.org/obo/HP_0040252	Abnormal size of the clitoris		
http://purl.obolibrary.org/obo/HP_0011218	Abnormal shape of the frontal region	http://purl.obolibrary.org/obo/HP_0430000	Abnormal frontal bone morphology		
http://purl.obolibrary.org/obo/SYMP_0000337	night sweats	http://purl.obolibrary.org/obo/SYMP_0000566	sleep disturbance		
http://purl.obolibrary.org/obo/SYMP_0000580	dysfunctions associated with sleep stages	http://purl.obolibrary.org/obo/SYMP_0000566	sleep disturbance		
http://purl.obolibrary.org/obo/SYMP_0000584	disruptions of 24-hour sleep-wake cycle	http://purl.obolibrary.org/obo/SYMP_0000566	sleep disturbance		
http://purl.obolibrary.org/obo/SYMP_0000816	dysfunctions associated with arousal from sleep	http://purl.obolibrary.org/obo/SYMP_0000566	sleep disturbance		
http://purl.obolibrary.org/obo/SYMP_0000133	severe necrosis	http://purl.obolibrary.org/obo/SYMP_0000132	necrosis		
http://purl.obolibrary.org/obo/HP_0010987	Abnormal cellular immune system morphology	http://purl.obolibrary.org/obo/HP_0032251	Abnormal immune system morphology		
http://purl.obolibrary.org/obo/HP_0003011	Abnormality of the musculature	http://purl.obolibrary.org/obo/HP_0033127	Abnormality of the musculoskeletal system		
http://purl.obolibrary.org/obo/HP_0003549	Abnormality of connective tissue	http://purl.obolibrary.org/obo/HP_0033127	Abnormality of the musculoskeletal system		
http://purl.obolibrary.org/obo/HP_0011843	Abnormal musculoskeletal physiology	http://purl.obolibrary.org/obo/HP_0033127	Abnormality of the musculoskeletal system		
http://purl.obolibrary.org/obo/HP_0002167	Abnormal speech pattern	http://purl.obolibrary.org/obo/HP_4000072	Abnormal language feature		
http://purl.obolibrary.org/obo/NCBITaxon_11234	Measles morbillivirus	http://purl.obolibrary.org/obo/NCBITaxon_3052345	Morbillivirus hominis		
http://purl.obolibrary.org/obo/NCBITaxon_3052460	Orthoebolavirus sudanense	http://purl.obolibrary.org/obo/NCBITaxon_3044781	Orthoebolavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052461	Orthoebolavirus taiense	http://purl.obolibrary.org/obo/NCBITaxon_3044781	Orthoebolavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052462	Orthoebolavirus zairense	http://purl.obolibrary.org/obo/NCBITaxon_3044781	Orthoebolavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052458	Orthoebolavirus bundibugyoense	http://purl.obolibrary.org/obo/NCBITaxon_3044781	Orthoebolavirus		
http://purl.obolibrary.org/obo/HP_0031909	Unicornuate uterus	http://purl.obolibrary.org/obo/HP_0031105	Abnormal uterus morphology		
http://purl.obolibrary.org/obo/SYMP_0000400	weak cry	http://purl.obolibrary.org/obo/SYMP_0000411	infant symptom		
http://purl.obolibrary.org/obo/SYMP_0000577	fussy infant	http://purl.obolibrary.org/obo/SYMP_0000411	infant symptom		
http://purl.obolibrary.org/obo/NCBITaxon_157	Treponema	http://purl.obolibrary.org/obo/NCBITaxon_2845253	Treponemataceae		
http://purl.obolibrary.org/obo/NCBITaxon_2995234	Mycoplasmoides	http://purl.obolibrary.org/obo/NCBITaxon_2790998	Mycoplasmoidaceae		
http://purl.obolibrary.org/obo/NCBITaxon_11041	Rubella virus	http://purl.obolibrary.org/obo/NCBITaxon_2846071	Rubivirus rubellae		
http://purl.obolibrary.org/obo/NCBITaxon_6179	Digenea <flatworms>	http://purl.obolibrary.org/obo/NCBITaxon_6178	Trematoda		
http://purl.obolibrary.org/obo/NCBITaxon_6300	Tylenchina	http://purl.obolibrary.org/obo/NCBITaxon_6236	Rhabditida		
http://purl.obolibrary.org/obo/NCBITaxon_2301116	Rhabditina	http://purl.obolibrary.org/obo/NCBITaxon_6236	Rhabditida		
http://purl.obolibrary.org/obo/HP_0002463	Language impairment	http://purl.obolibrary.org/obo/HP_0034434	Abnormal communication		
http://purl.obolibrary.org/obo/SYMP_0000732	sudden ataxis	http://purl.obolibrary.org/obo/SYMP_0000005	ataxia		
http://purl.obolibrary.org/obo/NCBITaxon_1660	Schaalia odontolytica	http://purl.obolibrary.org/obo/NCBITaxon_2529408	Schaalia		
http://purl.obolibrary.org/obo/NCBITaxon_52773	Schaalia meyeri	http://purl.obolibrary.org/obo/NCBITaxon_2529408	Schaalia		
http://purl.obolibrary.org/obo/CHEBI_27026	toxin	http://purl.obolibrary.org/obo/DISDRIV_0000003	biological driver		
http://purl.obolibrary.org/obo/UBERON_0001008	renal system	http://purl.obolibrary.org/obo/UBERON_8450002	excretory system		
http://purl.obolibrary.org/obo/MIM_607202	susceptibility to celiac disease 5	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_609754	susceptibility to celiac disease 2	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_611598	susceptibility to celiac disease 6	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612005	susceptibility to celiac disease 7	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612006	susceptibility to celiac disease 8	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612007	susceptibility to celiac disease 9	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612008	susceptibility to celiac disease 10	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612009	susceptibility to celiac disease 11	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612010	susceptibility to celiac disease 12	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612011	susceptibility to celiac disease 13	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_619491	susceptibility to autosomal dominant Parkinson disease 24	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_620923	susceptibility to autosomal dominant Parkinson disease 26	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/NCBITaxon_10243	Cowpox virus	http://purl.obolibrary.org/obo/NCBITaxon_3431481	Orthopoxvirus cowpox		
http://purl.obolibrary.org/obo/NCBITaxon_10244	Monkeypox virus	http://purl.obolibrary.org/obo/NCBITaxon_3431483	Orthopoxvirus monkeypox		
http://purl.obolibrary.org/obo/NCBITaxon_10258	Orf virus	http://purl.obolibrary.org/obo/NCBITaxon_3431389	Parapoxvirus orf		
http://purl.obolibrary.org/obo/NCBITaxon_10279	Molluscum contagiosum virus	http://purl.obolibrary.org/obo/NCBITaxon_3430922	Molluscipoxvirus molluscum		
http://purl.obolibrary.org/obo/NCBITaxon_10407	Hepatitis B virus	http://purl.obolibrary.org/obo/NCBITaxon_3431302	Orthohepadnavirus hominoidei		
http://purl.obolibrary.org/obo/NCBITaxon_46839	Colorado tick fever virus	http://purl.obolibrary.org/obo/NCBITaxon_2748762	Colorado tick fever coltivirus		
http://purl.obolibrary.org/obo/UBERON_0007650	esophagogastric junction	http://purl.obolibrary.org/obo/UBERON_1100000	digestive tract junction		
http://purl.obolibrary.org/obo/DOID_9402	epididymitis	http://purl.obolibrary.org/obo/DOID_0080373	epididymis disease		
http://purl.obolibrary.org/obo/NCBITaxon_2946187	Spinareoviridae	http://purl.obolibrary.org/obo/NCBITaxon_2732541	Reovirales		
http://purl.obolibrary.org/obo/NCBITaxon_37162	Mycobacterium avium complex sp.	http://purl.obolibrary.org/obo/NCBITaxon_2750822	unclassified Mycobacterium avium complex (MAC)		
http://purl.obolibrary.org/obo/NCBITaxon_1750	Arachnia propionica	http://purl.obolibrary.org/obo/NCBITaxon_2801844	Arachnia		
http://purl.obolibrary.org/obo/SYMP_0000709	granulomatous inflammation	http://purl.obolibrary.org/obo/SYMP_0000061	inflammation		
http://purl.obolibrary.org/obo/SYMP_0000222	limb weakness	http://purl.obolibrary.org/obo/SYMP_0000094	muscle weakness		
http://purl.obolibrary.org/obo/SYMP_0000352	peripheral muscle weakness	http://purl.obolibrary.org/obo/SYMP_0000094	muscle weakness		
http://purl.obolibrary.org/obo/SYMP_0000699	deltoid muscle weakness	http://purl.obolibrary.org/obo/SYMP_0000094	muscle weakness		
http://purl.obolibrary.org/obo/SYMP_0000733	sternocleidomastoid weakness	http://purl.obolibrary.org/obo/SYMP_0000094	muscle weakness		
http://purl.obolibrary.org/obo/SYMP_0000747	extreme prostration	http://purl.obolibrary.org/obo/SYMP_0000116	prostration		
http://purl.obolibrary.org/obo/SYMP_0000266	focal seizure	http://purl.obolibrary.org/obo/SYMP_0000124	seizure		
http://purl.obolibrary.org/obo/SYMP_0000267	generalized seizure	http://purl.obolibrary.org/obo/SYMP_0000124	seizure		
http://purl.obolibrary.org/obo/SYMP_0000269	epileptic seizure	http://purl.obolibrary.org/obo/SYMP_0000124	seizure		
http://purl.obolibrary.org/obo/SYMP_0000278	extensive ulcer	http://purl.obolibrary.org/obo/SYMP_0000136	skin ulcer		
http://purl.obolibrary.org/obo/SYMP_0000359	profound weakness	http://purl.obolibrary.org/obo/SYMP_0000177	weakness		
http://purl.obolibrary.org/obo/SYMP_0000363	progressive weakness	http://purl.obolibrary.org/obo/SYMP_0000177	weakness		
http://purl.obolibrary.org/obo/SYMP_0000093	muscle cramp	http://purl.obolibrary.org/obo/SYMP_0000183	muscle symptom		
http://purl.obolibrary.org/obo/SYMP_0000332	muscle soreness	http://purl.obolibrary.org/obo/SYMP_0000183	muscle symptom		
http://purl.obolibrary.org/obo/SYMP_0000333	muscle tenderness	http://purl.obolibrary.org/obo/SYMP_0000183	muscle symptom		
http://purl.obolibrary.org/obo/SYMP_0000394	muscle twitching	http://purl.obolibrary.org/obo/SYMP_0000183	muscle symptom		
http://purl.obolibrary.org/obo/SYMP_0000637	opisthotonus	http://purl.obolibrary.org/obo/SYMP_0000183	muscle symptom		
http://purl.obolibrary.org/obo/SYMP_0019162	muscle tightness	http://purl.obolibrary.org/obo/SYMP_0000183	muscle symptom		
http://purl.obolibrary.org/obo/SYMP_0000364	prostate symptom	http://purl.obolibrary.org/obo/SYMP_0000196	reproductive system symptom		
http://purl.obolibrary.org/obo/SYMP_0000051	hydrocephalus	http://purl.obolibrary.org/obo/SYMP_0000387	head symptom		
http://purl.obolibrary.org/obo/SYMP_0000315	lateroventral deviation of the head	http://purl.obolibrary.org/obo/SYMP_0000387	head symptom		
http://purl.obolibrary.org/obo/SYMP_0000706	facial weakness	http://purl.obolibrary.org/obo/SYMP_0000387	head symptom		
http://purl.obolibrary.org/obo/SYMP_0000710	head pressing	http://purl.obolibrary.org/obo/SYMP_0000387	head symptom		
http://purl.obolibrary.org/obo/SYMP_0000561	multiple sites abdominal pain	http://purl.obolibrary.org/obo/SYMP_0000457	abdominal pain		
http://purl.obolibrary.org/obo/SYMP_0000546	right lower quadrant abdominal pain	http://purl.obolibrary.org/obo/SYMP_0000457	abdominal pain		
http://purl.obolibrary.org/obo/SYMP_0000547	right upper quadrant abdominal pain	http://purl.obolibrary.org/obo/SYMP_0000457	abdominal pain		
http://purl.obolibrary.org/obo/SYMP_0000063	intestinal hemorrhage	http://purl.obolibrary.org/obo/SYMP_0000459	digestive system symptom		
http://purl.obolibrary.org/obo/SYMP_0000100	lesions in pancreas	http://purl.obolibrary.org/obo/SYMP_0000459	digestive system symptom		
http://purl.obolibrary.org/obo/SYMP_0000146	feces and droppings symptom	http://purl.obolibrary.org/obo/SYMP_0000459	digestive system symptom		
http://purl.obolibrary.org/obo/SYMP_0000180	liver symptom	http://purl.obolibrary.org/obo/SYMP_0000459	digestive system symptom		
http://purl.obolibrary.org/obo/SYMP_0000205	salivary gland symptom	http://purl.obolibrary.org/obo/SYMP_0000459	digestive system symptom		
http://purl.obolibrary.org/obo/SYMP_0000489	abnormal bowel sound	http://purl.obolibrary.org/obo/SYMP_0000459	digestive system symptom		
http://purl.obolibrary.org/obo/SYMP_0000520	visible peristalsis	http://purl.obolibrary.org/obo/SYMP_0000459	digestive system symptom		
http://purl.obolibrary.org/obo/SYMP_0000649	terminal ileitis	http://purl.obolibrary.org/obo/SYMP_0000459	digestive system symptom		
http://purl.obolibrary.org/obo/SYMP_0019159	gastroenteritis	http://purl.obolibrary.org/obo/SYMP_0000459	digestive system symptom		
http://purl.obolibrary.org/obo/SYMP_0000002	abdominal distention	http://purl.obolibrary.org/obo/SYMP_0000461	abdominal symptom		
http://purl.obolibrary.org/obo/SYMP_0000188	abdominal discomfort	http://purl.obolibrary.org/obo/SYMP_0000461	abdominal symptom		
http://purl.obolibrary.org/obo/SYMP_0000454	abdominal rigidity	http://purl.obolibrary.org/obo/SYMP_0000461	abdominal symptom		
http://purl.obolibrary.org/obo/SYMP_0000478	abdominal swelling	http://purl.obolibrary.org/obo/SYMP_0000461	abdominal symptom		
http://purl.obolibrary.org/obo/SYMP_0000484	abdominal tenderness	http://purl.obolibrary.org/obo/SYMP_0000461	abdominal symptom		
http://purl.obolibrary.org/obo/SYMP_0000770	pelvic symptom	http://purl.obolibrary.org/obo/SYMP_0000461	abdominal symptom		
http://purl.obolibrary.org/obo/SYMP_0000798	abdominal mass	http://purl.obolibrary.org/obo/SYMP_0000461	abdominal symptom		
http://purl.obolibrary.org/obo/SYMP_0000799	abdominal lump	http://purl.obolibrary.org/obo/SYMP_0000461	abdominal symptom		
http://purl.obolibrary.org/obo/SYMP_0000244	alteration of appetite	http://purl.obolibrary.org/obo/SYMP_0000473	nutrition, metabolism, and development symptom		
http://purl.obolibrary.org/obo/SYMP_0000464	lack of expected normal physiological development in childhood	http://purl.obolibrary.org/obo/SYMP_0000473	nutrition, metabolism, and development symptom		
http://purl.obolibrary.org/obo/SYMP_0000522	feeding difficulties and mismanagement	http://purl.obolibrary.org/obo/SYMP_0000473	nutrition, metabolism, and development symptom		
http://purl.obolibrary.org/obo/SYMP_0000551	disturbances of sensation of smell and taste	http://purl.obolibrary.org/obo/SYMP_0000480	nervous system symptom		
http://purl.obolibrary.org/obo/SYMP_0000249	reflex symptom	http://purl.obolibrary.org/obo/SYMP_0000480	nervous system symptom		
http://purl.obolibrary.org/obo/SYMP_0000336	neurological dysfunction	http://purl.obolibrary.org/obo/SYMP_0000480	nervous system symptom		
http://purl.obolibrary.org/obo/SYMP_0000685	brain cyst	http://purl.obolibrary.org/obo/SYMP_0000480	nervous system symptom		
http://purl.obolibrary.org/obo/SYMP_0000696	decreased motor response	http://purl.obolibrary.org/obo/SYMP_0000480	nervous system symptom		
http://purl.obolibrary.org/obo/SYMP_0000700	diminished spontaneous movement	http://purl.obolibrary.org/obo/SYMP_0000480	nervous system symptom		
http://purl.obolibrary.org/obo/SYMP_0000758	neurological alteration	http://purl.obolibrary.org/obo/SYMP_0000480	nervous system symptom		
http://purl.obolibrary.org/obo/SYMP_0000573	urinary stream symptom	http://purl.obolibrary.org/obo/SYMP_0000486	urinary system symptom		
http://purl.obolibrary.org/obo/SYMP_0000641	renal involvement	http://purl.obolibrary.org/obo/SYMP_0000486	urinary system symptom		
http://purl.obolibrary.org/obo/SYMP_0000740	genitourinary hemorrhage	http://purl.obolibrary.org/obo/SYMP_0000486	urinary system symptom		
http://purl.obolibrary.org/obo/SYMP_0000763	renal alteration	http://purl.obolibrary.org/obo/SYMP_0000486	urinary system symptom		
http://purl.obolibrary.org/obo/SYMP_0000033	flat keratotic capsule	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		
http://purl.obolibrary.org/obo/SYMP_0020040	hair symptom	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		
http://purl.obolibrary.org/obo/SYMP_0020048	skin peeling	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		
http://purl.obolibrary.org/obo/SYMP_0000018	darkening of skin	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		
http://purl.obolibrary.org/obo/SYMP_0000066	keratotic nodules of the skin	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		
http://purl.obolibrary.org/obo/SYMP_0000261	dry mucous membrane	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		
http://purl.obolibrary.org/obo/SYMP_0000444	nail discoloration	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		
http://purl.obolibrary.org/obo/SYMP_0000535	change in skin texture	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		
http://purl.obolibrary.org/obo/SYMP_0000644	ruffled feather	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		
http://purl.obolibrary.org/obo/SYMP_0000656	pale mucous membrane	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		
http://purl.obolibrary.org/obo/SYMP_0000750	hemorrhage into mucous membrane	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		
http://purl.obolibrary.org/obo/SYMP_0000751	hemorrhage into skin	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		
http://purl.obolibrary.org/obo/SYMP_0000819	localized superficial swelling	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		
http://purl.obolibrary.org/obo/SYMP_0000578	incontinence without sensory awareness	http://purl.obolibrary.org/obo/SYMP_0000492	urinary incontinence		
http://purl.obolibrary.org/obo/SYMP_0000491	continuous leakage of urine	http://purl.obolibrary.org/obo/SYMP_0000492	urinary incontinence		
http://purl.obolibrary.org/obo/SYMP_0000516	lump in chest	http://purl.obolibrary.org/obo/SYMP_0000514	respiratory system and chest symptom		
http://purl.obolibrary.org/obo/SYMP_0000820	mass in chest	http://purl.obolibrary.org/obo/SYMP_0000514	respiratory system and chest symptom		
http://purl.obolibrary.org/obo/SYMP_0000821	swelling in chest	http://purl.obolibrary.org/obo/SYMP_0000514	respiratory system and chest symptom		
http://purl.obolibrary.org/obo/SYMP_0000054	hypergammaglobulinemia	http://purl.obolibrary.org/obo/SYMP_0000528	cardiovascular system symptom		
http://purl.obolibrary.org/obo/SYMP_0000070	lesions in myocardium	http://purl.obolibrary.org/obo/SYMP_0000528	cardiovascular system symptom		
http://purl.obolibrary.org/obo/SYMP_0000095	myocarditis	http://purl.obolibrary.org/obo/SYMP_0000528	cardiovascular system symptom		
http://purl.obolibrary.org/obo/SYMP_0000227	blood vessel infection	http://purl.obolibrary.org/obo/SYMP_0000528	cardiovascular system symptom		
http://purl.obolibrary.org/obo/SYMP_0000262	endocarditis	http://purl.obolibrary.org/obo/SYMP_0000528	cardiovascular system symptom		
http://purl.obolibrary.org/obo/SYMP_0000356	phlebitis	http://purl.obolibrary.org/obo/SYMP_0000528	cardiovascular system symptom		
http://purl.obolibrary.org/obo/SYMP_0000527	undiagnosed cardiac murmur	http://purl.obolibrary.org/obo/SYMP_0000528	cardiovascular system symptom		
http://purl.obolibrary.org/obo/SYMP_0000593	gangrene	http://purl.obolibrary.org/obo/SYMP_0000528	cardiovascular system symptom		
http://purl.obolibrary.org/obo/SYMP_0000769	vascular alteration	http://purl.obolibrary.org/obo/SYMP_0000528	cardiovascular system symptom		
http://purl.obolibrary.org/obo/SYMP_0000032	flaccidity	http://purl.obolibrary.org/obo/SYMP_0000567	general symptom		
http://purl.obolibrary.org/obo/SYMP_0000076	listlessness	http://purl.obolibrary.org/obo/SYMP_0000567	general symptom		
http://purl.obolibrary.org/obo/SYMP_0000225	asthenia	http://purl.obolibrary.org/obo/SYMP_0000567	general symptom		
http://purl.obolibrary.org/obo/SYMP_0000716	swelling symptom	http://purl.obolibrary.org/obo/SYMP_0000567	general symptom		
http://purl.obolibrary.org/obo/SYMP_0000724	multiple organ failure	http://purl.obolibrary.org/obo/SYMP_0000567	general symptom		
http://purl.obolibrary.org/obo/SYMP_0000745	change in body sensation	http://purl.obolibrary.org/obo/SYMP_0000567	general symptom		
http://purl.obolibrary.org/obo/SYMP_0000761	extracellular fluid alteration	http://purl.obolibrary.org/obo/SYMP_0000567	general symptom		
http://purl.obolibrary.org/obo/SYMP_0000765	sensory disturbance	http://purl.obolibrary.org/obo/SYMP_0000567	general symptom		
http://purl.obolibrary.org/obo/SYMP_0000766	slow pulse	http://purl.obolibrary.org/obo/SYMP_0000567	general symptom		
http://purl.obolibrary.org/obo/SYMP_0019174	chills	http://purl.obolibrary.org/obo/SYMP_0000567	general symptom		
http://purl.obolibrary.org/obo/SYMP_0000738	yellowish green diarrhea	http://purl.obolibrary.org/obo/SYMP_0000570	diarrhea		
http://purl.obolibrary.org/obo/SYMP_0000575	precordial pain	http://purl.obolibrary.org/obo/SYMP_0000576	chest pain		
http://purl.obolibrary.org/obo/SYMP_0000384	neck symptom	http://purl.obolibrary.org/obo/SYMP_0000597	head and neck symptom		
http://purl.obolibrary.org/obo/SYMP_0000385	throat symptom	http://purl.obolibrary.org/obo/SYMP_0000597	head and neck symptom		
http://purl.obolibrary.org/obo/SYMP_0000652	wound discharge	http://purl.obolibrary.org/obo/SYMP_0000651	discharge		
http://purl.obolibrary.org/obo/SYMP_0000329	motor weakness	http://purl.obolibrary.org/obo/SYMP_0000891	musculoskeletal system symptom		
http://purl.obolibrary.org/obo/SYMP_0000312	joint symptom	http://purl.obolibrary.org/obo/SYMP_0000891	musculoskeletal system symptom		
http://purl.obolibrary.org/obo/SYMP_0000382	staggering gait	http://purl.obolibrary.org/obo/SYMP_0000891	musculoskeletal system symptom		
http://purl.obolibrary.org/obo/SYMP_0000550	clubbing of fingers	http://purl.obolibrary.org/obo/SYMP_0000891	musculoskeletal system symptom		
http://purl.obolibrary.org/obo/SYMP_0000616	loss of height	http://purl.obolibrary.org/obo/SYMP_0000891	musculoskeletal system symptom		
http://purl.obolibrary.org/obo/SYMP_0000619	tetany	http://purl.obolibrary.org/obo/SYMP_0000891	musculoskeletal system symptom		
http://purl.obolibrary.org/obo/SYMP_0000661	recumbency	http://purl.obolibrary.org/obo/SYMP_0000891	musculoskeletal system symptom		
http://purl.obolibrary.org/obo/SYMP_0000663	uncoordinated gait	http://purl.obolibrary.org/obo/SYMP_0000891	musculoskeletal system symptom		
http://purl.obolibrary.org/obo/SYMP_0000083	lymphangitis	http://purl.obolibrary.org/obo/SYMP_0019141	lymphatic system symptom		
http://purl.obolibrary.org/obo/SYMP_0000084	lymphoblastoma	http://purl.obolibrary.org/obo/SYMP_0019141	lymphatic system symptom		
http://purl.obolibrary.org/obo/SYMP_0000086	lymphopenia	http://purl.obolibrary.org/obo/SYMP_0019141	lymphatic system symptom		
http://purl.obolibrary.org/obo/SYMP_0000521	enlargement of lymph nodes	http://purl.obolibrary.org/obo/SYMP_0019141	lymphatic system symptom		
http://purl.obolibrary.org/obo/SYMP_0019155	lymphadenitis	http://purl.obolibrary.org/obo/SYMP_0019141	lymphatic system symptom		
http://purl.obolibrary.org/obo/SYMP_0000726	painful reginal lymphadenopathy	http://purl.obolibrary.org/obo/SYMP_0019142	lymphadenopathy		
http://purl.obolibrary.org/obo/SYMP_0020034	conjunctiva symptom	http://purl.obolibrary.org/obo/SYMP_0019163	eye symptom		
http://purl.obolibrary.org/obo/DOID_4844	benign ependymoma	http://purl.obolibrary.org/obo/DOID_0080829	low grade glioma		
http://purl.obolibrary.org/obo/HP_0011425	Fetal ultrasound soft marker	http://purl.obolibrary.org/obo/HP_0034058	Abnormal fetal morphology		
http://purl.obolibrary.org/obo/HP_0034242	Abnormal fetal genitourinary system morphology	http://purl.obolibrary.org/obo/HP_0034058	Abnormal fetal morphology		
http://purl.obolibrary.org/obo/HP_0031137	Storage in hepatocytes	http://purl.obolibrary.org/obo/HP_0034644	Abnormal liver metabolite concentration		
http://purl.obolibrary.org/obo/NCBITaxon_37296	Human gammaherpesvirus 8	http://purl.obolibrary.org/obo/NCBITaxon_3050300	Rhadinovirus humangamma8		
http://purl.obolibrary.org/obo/DOID_0001816	angiosarcoma	http://purl.obolibrary.org/obo/DOID_175	vascular cancer		A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels.
http://purl.obolibrary.org/obo/DOID_0002116	pterygium	http://purl.obolibrary.org/obo/DOID_10124	corneal disease		A corneal disease that is characterized by a triangular tissue growth located_in cornea of the eye that is the result of collagen degeneration and fibrovascular proliferation.
http://purl.obolibrary.org/obo/DOID_0014667	disease of metabolism	http://purl.obolibrary.org/obo/DOID_4	disease		A disease that involves errors in metabolic processes of building or degradation of molecules.
http://purl.obolibrary.org/obo/DOID_0050004	seminal vesicle acute gonorrhea	http://purl.obolibrary.org/obo/DOID_10400	gonococcal seminal vesiculitis		A gonococcal seminal vesiculitis that is characterized by back pain, perineal pain, pain with ejaculation, hematospermia and voiding symptoms resulting from inflammation located_in the seminal vesicles caused by Neisseria gonorrhoeae infection.
http://purl.obolibrary.org/obo/DOID_0050012	chikungunya	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus (Alphavirus chikungunya), which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash.
http://purl.obolibrary.org/obo/DOID_0050025	human granulocytic anaplasmosis	http://purl.obolibrary.org/obo/DOID_10242	ehrlichiosis		An ehrlichiosis that results in infection located in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted by lone star tick (Amblyomma americanum). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash.
http://purl.obolibrary.org/obo/DOID_0050026	human monocytic ehrlichiosis	http://purl.obolibrary.org/obo/DOID_10242	ehrlichiosis		An ehrlichiosis that results in infection located in monocyte or located in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted by black-legged tick (Ixodes scapularis), transmitted by western black-legged tick (Ixodes pacificus) or transmitted by castor bean tick (Ixodes ricinus). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash.
http://purl.obolibrary.org/obo/DOID_0050032	mineral metabolism disease	http://purl.obolibrary.org/obo/DOID_0060158	acquired metabolic disease		An acquired metabolic disease that is characterized by abnormal mineral metabolism.
http://purl.obolibrary.org/obo/DOID_0050035	African tick-bite fever	http://purl.obolibrary.org/obo/DOID_11104	spotted fever		A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash.
http://purl.obolibrary.org/obo/DOID_0050041	Astrakhan spotted fever	http://purl.obolibrary.org/obo/DOID_11104	spotted fever		A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities.
http://purl.obolibrary.org/obo/DOID_0050042	Indian tick typhus	http://purl.obolibrary.org/obo/DOID_11104	spotted fever		A spotted fever that has_material_basis_in Rickettsia conorii subsp indica, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities.
http://purl.obolibrary.org/obo/DOID_0050043	Israeli tick typhus	http://purl.obolibrary.org/obo/DOID_11104	spotted fever		A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities.
http://purl.obolibrary.org/obo/DOID_0050046	Far Eastern spotted fever	http://purl.obolibrary.org/obo/DOID_11104	spotted fever		A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy.
http://purl.obolibrary.org/obo/DOID_0050047	Flinders Island spotted fever	http://purl.obolibrary.org/obo/DOID_11104	spotted fever		A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy.
http://purl.obolibrary.org/obo/DOID_0050050	Japanese spotted fever	http://purl.obolibrary.org/obo/DOID_11104	spotted fever		A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities.
http://purl.obolibrary.org/obo/DOID_0050051	Rickettsia parkeri spotted fever	http://purl.obolibrary.org/obo/DOID_11104	spotted fever		A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). The infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash.
http://purl.obolibrary.org/obo/DOID_0050052	Rocky Mountain spotted fever	http://purl.obolibrary.org/obo/DOID_11104	spotted fever		A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash.
http://purl.obolibrary.org/obo/DOID_0050059	oropharyngeal anthrax	http://purl.obolibrary.org/obo/DOID_13386	gastrointestinal anthrax		A gastrointestinal anthrax that results in infection located in mucosa of oropharynx, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite.
http://purl.obolibrary.org/obo/DOID_0050061	erysipeloid	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin.
http://purl.obolibrary.org/obo/DOID_0050072	adiaspiromycosis	http://purl.obolibrary.org/obo/DOID_0050292	primary systemic mycosis		A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens.
http://purl.obolibrary.org/obo/DOID_0050073	invasive aspergillosis	http://purl.obolibrary.org/obo/DOID_850	lung disease		An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage.
http://purl.obolibrary.org/obo/DOID_0050083	Keshan disease	http://purl.obolibrary.org/obo/DOID_5113	nutritional deficiency disease		A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency.
http://purl.obolibrary.org/obo/DOID_0050096	tinea barbae	http://purl.obolibrary.org/obo/DOID_8913	dermatophytosis		A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules.
http://purl.obolibrary.org/obo/DOID_0050097	ectothrix infectious disease	http://purl.obolibrary.org/obo/DOID_4337	tinea capitis		A tinea capitis that results_in fungal infection located_in cuticle of hair, has_material_basis_in Microsporum canis, has_material_basis_in Microsporum gypseum, has_material_basis_in Trichophyton equinum, and has_material_basis_in Trichophyton verrucosum, which produce arthroconidia on the exterior of the hair shaft.
http://purl.obolibrary.org/obo/DOID_0050105	endothrix infectious disease	http://purl.obolibrary.org/obo/DOID_4337	tinea capitis		A tinea capitis that results_in fungal infection located_in hair, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which produce arthroconidia within the hair shaft only.
http://purl.obolibrary.org/obo/DOID_0050116	tinea imbricata	http://purl.obolibrary.org/obo/DOID_12179	tinea corporis		A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition.
http://purl.obolibrary.org/obo/DOID_0050117	disease by infectious agent	http://purl.obolibrary.org/obo/DOID_4	disease		A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions.
http://purl.obolibrary.org/obo/DOID_0050118	La Crosse encephalitis	http://purl.obolibrary.org/obo/DOID_936	brain disease		A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus (Orthobunyavirus lacrosseense), which is primarily transmitted_by treehole mosquito (Ochlerotatus triseriatus) but also Asian tiger mosquito (Aedes albopictus) and Asian bush mosquito (Aedes japonicus). The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis.
http://purl.obolibrary.org/obo/DOID_0050120	hemophagocytic lymphohistiocytosis	http://purl.obolibrary.org/obo/DOID_75	lymphatic system disease		A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages.
http://purl.obolibrary.org/obo/DOID_0050125	dengue shock syndrome	http://purl.obolibrary.org/obo/DOID_12205	dengue disease		A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth.
http://purl.obolibrary.org/obo/DOID_0050127	sinusitis	http://purl.obolibrary.org/obo/DOID_1352	paranasal sinus disease		A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip.
http://purl.obolibrary.org/obo/DOID_0050129	secretory diarrhea	http://purl.obolibrary.org/obo/DOID_13250	diarrhea		A diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions.
http://purl.obolibrary.org/obo/DOID_0050130	osmotic diarrhea	http://purl.obolibrary.org/obo/DOID_13250	diarrhea		A dirrhea that occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. Osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). In healthy individuals, too much magnesium or vitamin C or undigested lactose can produce osmotic diarrhea and distention of the bowel. A person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products.
http://purl.obolibrary.org/obo/DOID_0050131	motility-related diarrhea	http://purl.obolibrary.org/obo/DOID_13250	diarrhea		A diarrhea which is caused by the rapid movement of food through the intestines (hypermotility). If the food moves too quickly through the GI tract, there is not enough time for sufficient nutrients and water to be absorbed.
http://purl.obolibrary.org/obo/DOID_0050132	inflammatory diarrhea	http://purl.obolibrary.org/obo/DOID_13250	diarrhea		A gastrointestinal system infectious disease involving diarrhea that occurs when there is damage to the mucosal lining or brush border, which leads to a passive loss of protein-rich fluids, and a decreased ability to absorb these lost fluids. It can be caused by bacterial infections, viral infections, parasitic infections, or autoimmune problems such as inflammatory bowel diseases. It can also be caused by tuberculosis, colon cancer, and enteritis.
http://purl.obolibrary.org/obo/DOID_0050133	superficial mycosis	http://purl.obolibrary.org/obo/DOID_1564	fungal infectious disease		A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host.
http://purl.obolibrary.org/obo/DOID_0050134	cutaneous mycosis	http://purl.obolibrary.org/obo/DOID_1564	fungal infectious disease		A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions.
http://purl.obolibrary.org/obo/DOID_0050135	subcutaneous mycosis	http://purl.obolibrary.org/obo/DOID_1564	fungal infectious disease		A fungal infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Fungi, which penetrate the dermis or even deeper during or after a skin trauma.
http://purl.obolibrary.org/obo/DOID_0050136	systemic mycosis	http://purl.obolibrary.org/obo/DOID_1564	fungal infectious disease		A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs.
http://purl.obolibrary.org/obo/DOID_0050138	podoconiosis	http://purl.obolibrary.org/obo/DOID_4976	elephantiasis		An elephantiasis that is characterized by lymphadema located_in the lower extremities caused by a genetically determined abnormal inflammatory reaction to mineral particles in irritant red clay soils derived from volcanic deposits.
http://purl.obolibrary.org/obo/DOID_0050140	acute diarrhea	http://purl.obolibrary.org/obo/DOID_13250	diarrhea		A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide.
http://purl.obolibrary.org/obo/DOID_0050141	intestinal botulism	http://purl.obolibrary.org/obo/DOID_11976	botulism		A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by ingestion of bacterial spores, which then grow in the intestine and release toxins.
http://purl.obolibrary.org/obo/DOID_0050143	asymptomatic dengue	http://purl.obolibrary.org/obo/DOID_12205	dengue disease		A dengue disease that results_in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms.
http://purl.obolibrary.org/obo/DOID_0050144	Kartagener syndrome	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development.
http://purl.obolibrary.org/obo/DOID_0050145	adenoiditis	http://purl.obolibrary.org/obo/DOID_974	upper respiratory tract disease		An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has symptom pain, has symptom redness, has symptom swelling, and has symptom difficulty swallowing.
http://purl.obolibrary.org/obo/DOID_0050147	otomycosis	http://purl.obolibrary.org/obo/DOID_9463	otitis externa		An otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are Aspergillus niger and Candida albicans.
http://purl.obolibrary.org/obo/DOID_0050148	laryngotracheitis	http://purl.obolibrary.org/obo/DOID_974	upper respiratory tract disease		An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe.
http://purl.obolibrary.org/obo/DOID_0050150	Pontiac fever	http://purl.obolibrary.org/obo/DOID_10458	legionellosis		A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days.
http://purl.obolibrary.org/obo/DOID_0050152	aspiration pneumonia	http://purl.obolibrary.org/obo/DOID_874	bacterial pneumonia		A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough.
http://purl.obolibrary.org/obo/DOID_0050153	pulmonary aspergilloma	http://purl.obolibrary.org/obo/DOID_850	lung disease		An aspergillosis that presents as a clump of tangled mass of Aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lung scarring.
http://purl.obolibrary.org/obo/DOID_0050155	sensory system disease	http://purl.obolibrary.org/obo/DOID_863	nervous system disease		A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell).
http://purl.obolibrary.org/obo/DOID_0050156	idiopathic pulmonary fibrosis	http://purl.obolibrary.org/obo/DOID_3770	pulmonary fibrosis		A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.
http://purl.obolibrary.org/obo/DOID_0050157	cryptogenic organizing pneumonia	http://purl.obolibrary.org/obo/DOID_2797	idiopathic interstitial pneumonia		An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope.
http://purl.obolibrary.org/obo/DOID_0050158	desquamative interstitial pneumonia	http://purl.obolibrary.org/obo/DOID_2797	idiopathic interstitial pneumonia		An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation.
http://purl.obolibrary.org/obo/DOID_0050159	lymphoid interstitial pneumonia	http://purl.obolibrary.org/obo/DOID_2797	idiopathic interstitial pneumonia		An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses.
http://purl.obolibrary.org/obo/DOID_0050160	inhalation anthrax	http://purl.obolibrary.org/obo/DOID_7427	anthrax disease		An anthrax disease that results in infection located in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches.
http://purl.obolibrary.org/obo/DOID_0050161	lower respiratory tract disease	http://purl.obolibrary.org/obo/DOID_1579	respiratory system disease		A respiratory system disease which involves the lower respiratory tract.
http://purl.obolibrary.org/obo/DOID_0050166	tuberculous salpingitis	http://purl.obolibrary.org/obo/DOID_2149	urogenital tuberculosis		An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube.
http://purl.obolibrary.org/obo/DOID_0050167	autoimmune polyendocrine syndrome type 1	http://purl.obolibrary.org/obo/DOID_14040	autoimmune polyendocrine syndrome		An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.
http://purl.obolibrary.org/obo/DOID_0050168	autoimmune polyendocrine syndrome type 2	http://purl.obolibrary.org/obo/DOID_14040	autoimmune polyendocrine syndrome		An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene.
http://purl.obolibrary.org/obo/DOID_0050169	cutaneous lupus erythematosus	http://purl.obolibrary.org/obo/DOID_8857	lupus erythematosus		A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight.
http://purl.obolibrary.org/obo/DOID_0050174	Kunjin encephalitis	http://purl.obolibrary.org/obo/DOID_2365	West Nile encephalitis		A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus (Orthoflavivirus nilense), which is transmitted_by Culex annulirostris mosquito bite. The infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy.
http://purl.obolibrary.org/obo/DOID_0050175	tick-borne encephalitis	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus (Orthoflavivirus encephalitidis), which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis.
http://purl.obolibrary.org/obo/DOID_0050177	monogenic disease	http://purl.obolibrary.org/obo/DOID_630	genetic disease		A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
http://purl.obolibrary.org/obo/DOID_0050179	Powassan encephalitis	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus (Orthoflavivirus powassanense), which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma.
http://purl.obolibrary.org/obo/DOID_0050185	erythema multiforme	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness.
http://purl.obolibrary.org/obo/DOID_0050192	Nipah virus encephalitis	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Nipah virus (Henipavirus nipahense), which is transmitted_by direct contact with sick person or animals, or their contaminated tissues. The infection has_symptom dizziness, has_symptom drowsiness, has_symptom altered consciousness, has_symptom disorientation, and has_symptom coma.
http://purl.obolibrary.org/obo/DOID_0050194	Argentine hemorrhagic fever	http://purl.obolibrary.org/obo/DOID_3944	Arenaviridae infectious disease		A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus (Mammarenavirus juninense), which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations.
http://purl.obolibrary.org/obo/DOID_0050195	Bolivian hemorrhagic fever	http://purl.obolibrary.org/obo/DOID_3944	Arenaviridae infectious disease		A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Machupo virus (Mammarenavirus machupoense), which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts.
http://purl.obolibrary.org/obo/DOID_0050196	Venezuelan hemorrhagic fever	http://purl.obolibrary.org/obo/DOID_3944	Arenaviridae infectious disease		A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Guanarito virus (Mammarenavirus guanaritoense), which is transmitted_by cotton rat, Sigmodon alstoni or transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia.
http://purl.obolibrary.org/obo/DOID_0050197	Brazilian hemorrhagic fever	http://purl.obolibrary.org/obo/DOID_3944	Arenaviridae infectious disease		A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Sabia virus (Mammarenavirus brazilense), which is transmitted by rodents. The infection has symptom fever, has symptom eye redness, has symptom fatigue, has symptom dizziness, has symptom muscle aches, has symptom loss of strength, and has symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears.
http://purl.obolibrary.org/obo/DOID_0050198	Chapare hemorrhagic fever	http://purl.obolibrary.org/obo/DOID_3944	Arenaviridae infectious disease		A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Chapare virus (Mammarenavirus chapareense). The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom shock, and has symptom bleeding.
http://purl.obolibrary.org/obo/DOID_0050199	Whitewater Arroyo hemorrhagic fever	http://purl.obolibrary.org/obo/DOID_3944	Arenaviridae infectious disease		A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Whitewater Arroyo virus (Mammarenavirus whitewaterense), which is transmitted_by white-throated woodrats (Neotoma albigula). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations.
http://purl.obolibrary.org/obo/DOID_0050200	Korean hemorrhagic fever	http://purl.obolibrary.org/obo/DOID_11266	Hantavirus hemorrhagic fever with renal syndrome		A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload.
http://purl.obolibrary.org/obo/DOID_0050201	nephropathia epidemica	http://purl.obolibrary.org/obo/DOID_11266	Hantavirus hemorrhagic fever with renal syndrome		A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Orthohantavirus puumalaense, which is transmitted_by bank vole, Myodes glareolus. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure.
http://purl.obolibrary.org/obo/DOID_0050202	Lujo hemorrhagic fever	http://purl.obolibrary.org/obo/DOID_3944	Arenaviridae infectious disease		A viral infectious disease that results_in infection, has_material_basis_in Lujo virus (Mammarenavirus lujoense), which has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom thrombocytopenia, and has_symptom bleeding. Bleeding is minor and not a prominent symptom.
http://purl.obolibrary.org/obo/DOID_0050204	Epstein-Barr virus hepatitis	http://purl.obolibrary.org/obo/DOID_1884	viral hepatitis		A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 (Lymphocryptovirus humangamma4) and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice.
http://purl.obolibrary.org/obo/DOID_0050211	swine influenza	http://purl.obolibrary.org/obo/DOID_8469	influenza		An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus (Gammainfluenzavirus influenzae), or has_material_basis_in Influenza A virus (Alphainfluenzavirus influenzae) including subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea.
http://purl.obolibrary.org/obo/DOID_0050214	Lambert-Eaton myasthenic syndrome	http://purl.obolibrary.org/obo/DOID_439	neuromuscular junction disease		A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal.
http://purl.obolibrary.org/obo/DOID_0050218	polycystic echinococcosis	http://purl.obolibrary.org/obo/DOID_409	liver disease		An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver.
http://purl.obolibrary.org/obo/DOID_0050222	selective IgM deficiency disease	http://purl.obolibrary.org/obo/DOID_11702	dysgammaglobulinemia		A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies.
http://purl.obolibrary.org/obo/DOID_0050242	primary amebic meningoencephalitis	http://purl.obolibrary.org/obo/DOID_331	central nervous system disease		A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma.
http://purl.obolibrary.org/obo/DOID_0050246	granulomatous amebic encephalitis	http://purl.obolibrary.org/obo/DOID_936	brain disease		A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death.
http://purl.obolibrary.org/obo/DOID_0050250	philophthalmiasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves parasitic infection of the eyes by Philophthalmus species. External ocular philophthalmiasis manifests as follicular conjunctivitis and superficial keratitis. Sub-conjunctival ocular philophthalmiasis consists of a mild edema with minimal cellular reaction.
http://purl.obolibrary.org/obo/DOID_0050251	coenurosis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of Taenia multiceps or Taenia serialis. Coenuri in the skin or subcutaneous tissue present as painless nodules, which manifest on the trunk, sclera, subconjuctiva, neck, shoulders, head and limbs. Coenuri in the central nervous system may cause headache, fever, vomiting, nerve palsies, jacksonian epilepsy, pachymeningitis, obstructive or communicating hydrocephalus, and intracranial arteritis with transient hemiparesis. Coenuri in the eye cause both intraocular and orbital infections.
http://purl.obolibrary.org/obo/DOID_0050253	mesocestoidiasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting.
http://purl.obolibrary.org/obo/DOID_0050254	acanthocephaliasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools.
http://purl.obolibrary.org/obo/DOID_0050256	angiostrongyliasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis.
http://purl.obolibrary.org/obo/DOID_0050259	baylisascariasis	http://purl.obolibrary.org/obo/DOID_936	brain disease		A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death.
http://purl.obolibrary.org/obo/DOID_0050260	dioctophymiasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves parasitic infection by the nematode Dioctophyme renale in humans after eating undercooked food. The larvae are found in the subcutaneous nodules and kidneys.
http://purl.obolibrary.org/obo/DOID_0050261	thelaziasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious diseasea that involves infection of the eyes in humans by nematode Thelazia callipaeda causing varying degrees of inflammation and lacrimation. In heavier infections, photophobia, edema, conjunctivitis, and blindness occurs.
http://purl.obolibrary.org/obo/DOID_0050266	tungiasis	http://purl.obolibrary.org/obo/DOID_4110	parasitic ectoparasitic infectious disease		A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, Tunga penetrans in animals and humans. The symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo.
http://purl.obolibrary.org/obo/DOID_0050268	ophthalmomyiasis	http://purl.obolibrary.org/obo/DOID_5614	eye disease		A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain.
http://purl.obolibrary.org/obo/DOID_0050269	Trichomonas vaginalis trichomoniasis	http://purl.obolibrary.org/obo/DOID_732	urethral disease		A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge.
http://purl.obolibrary.org/obo/DOID_0050270	Trichomonas tenax trichomoniasis	http://purl.obolibrary.org/obo/DOID_403	mouth disease		A trichomoniasis that is caused by a singled-celled protozoan parasite Trichomonas tenax, which is transmitted through oral droplets, by kissing, or on fomites such as eating utensils. Trichomonas tenax causes periodonitis and bronchopulmonary trichomoniasis by aspiration from the oropharynx.
http://purl.obolibrary.org/obo/DOID_0050278	basidiobolomycosis	http://purl.obolibrary.org/obo/DOID_0050135	subcutaneous mycosis		A subcutaneous mycosis that involves a chronic inflammatory or granulomatous fungal infection of the subcutaneous tissue of the limbs, chest, back or buttocks caused by Basidiobolus ranarum. Lesions appear as subcutaneous nodules which develop into massive, firm, indurated, painless swellings which are freely movable over the underlying muscle, but are attached to the skin which may become hyperpigmented but not ulcerated.
http://purl.obolibrary.org/obo/DOID_0050279	conidiobolomycosis	http://purl.obolibrary.org/obo/DOID_0050135	subcutaneous mycosis		An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions.
http://purl.obolibrary.org/obo/DOID_0050288	penicilliosis	http://purl.obolibrary.org/obo/DOID_2473	opportunistic mycosis		An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions.
http://purl.obolibrary.org/obo/DOID_0050289	fusariosis	http://purl.obolibrary.org/obo/DOID_2473	opportunistic mycosis		An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma.
http://purl.obolibrary.org/obo/DOID_0050290	trichosporonosis	http://purl.obolibrary.org/obo/DOID_2473	opportunistic mycosis		An opportunistic mycosis that results_in disseminated infection, has_material_basis_in Trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body.
http://purl.obolibrary.org/obo/DOID_0050291	parasitic Ichthyosporea infectious disease	http://purl.obolibrary.org/obo/DOID_1398	parasitic infectious disease		A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals.
http://purl.obolibrary.org/obo/DOID_0050292	primary systemic mycosis	http://purl.obolibrary.org/obo/DOID_0050136	systemic mycosis		A systemic mycosis that results_in infection located_in human body, has_material_basis_in Fungi, which can overcome the physiological and cellular defences of the normal human host. The primary deep pathogens usually gain access to the host via the respiratory tract.
http://purl.obolibrary.org/obo/DOID_0050304	aniseikonia	http://purl.obolibrary.org/obo/DOID_9835	refractive error		A refractive error that is characterized by the significant difference in perceived sizes of an object between the two eyes.
http://purl.obolibrary.org/obo/DOID_0050308	Alkhumra hemorrhagic fever	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus (Orthoflavivirus kyasanurense), which is transmitted by Ornithodoros savignyi tick bite, transmitted by ingestion of unpasteurized camel milk, or transmitted by entry via skin wound. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom thrombocytopenia, and has symptom hemorrhagic fever.
http://purl.obolibrary.org/obo/DOID_0050328	congenital hypothyroidism	http://purl.obolibrary.org/obo/DOID_1459	hypothyroidism		A hypothyroidism that is present at birth.
http://purl.obolibrary.org/obo/DOID_0050331	lacrimoauriculodentodigital syndrome 1	http://purl.obolibrary.org/obo/DOID_0081370	LADD syndrome		A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.
http://purl.obolibrary.org/obo/DOID_0050332	enlarged vestibular aqueduct	http://purl.obolibrary.org/obo/DOID_3426	vestibular disease		A vestibular disease that is characterized by progressive hearing loss resulting from congenital enlargement of the vestibular aqueducts.
http://purl.obolibrary.org/obo/DOID_0050335	bradyopsia	http://purl.obolibrary.org/obo/DOID_5679	retinal disease		A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions.
http://purl.obolibrary.org/obo/DOID_0050336	hypophosphatemia	http://purl.obolibrary.org/obo/DOID_2485	phosphorus metabolism disease		A phosphorus metabolism disease that is characterized by hypophosphatemia and the symptoms of osteomalacia including bone pain, skeletal deformities and osteoarthritis.
http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease	http://purl.obolibrary.org/obo/DOID_104	bacterial infectious disease		A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread.
http://purl.obolibrary.org/obo/DOID_0050339	commensal bacterial infectious disease	http://purl.obolibrary.org/obo/DOID_104	bacterial infectious disease		A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder.
http://purl.obolibrary.org/obo/DOID_0050340	opportunistic bacterial infectious disease	http://purl.obolibrary.org/obo/DOID_104	bacterial infectious disease		A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised.
http://purl.obolibrary.org/obo/DOID_0050352	foodborne botulism	http://purl.obolibrary.org/obo/DOID_11976	botulism		A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has symptom blurred vision, has symptom diplopia, has symptom dysarthria, has symptom dysphonia, has symptom dysphagia and has symptom descending muscle paralysis.
http://purl.obolibrary.org/obo/DOID_0050353	wound botulism	http://purl.obolibrary.org/obo/DOID_11976	botulism		A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins.
http://purl.obolibrary.org/obo/DOID_0050354	infant botulism	http://purl.obolibrary.org/obo/DOID_11976	botulism		A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness.
http://purl.obolibrary.org/obo/DOID_0050382	glandular tularemia	http://purl.obolibrary.org/obo/DOID_2123	tularemia		A tularemia that results_in swelling of regional lymph glands.
http://purl.obolibrary.org/obo/DOID_0050383	typhoidal tularemia	http://purl.obolibrary.org/obo/DOID_2123	tularemia		A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss.
http://purl.obolibrary.org/obo/DOID_0050387	nonpapillary renal cell carcinoma	http://purl.obolibrary.org/obo/DOID_4455	hereditary renal cell carcinoma		A hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences.
http://purl.obolibrary.org/obo/DOID_0050398	Carrion's disease	http://purl.obolibrary.org/obo/DOID_11102	bartonellosis		A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed.
http://purl.obolibrary.org/obo/DOID_0050419	complement factor I deficiency	http://purl.obolibrary.org/obo/DOID_626	complement deficiency		A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency.
http://purl.obolibrary.org/obo/DOID_0050424	familial adenomatous polyposis	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		An intestinal disease that is characterized by predisposition to colon cancer.
http://purl.obolibrary.org/obo/DOID_0050425	restless legs syndrome	http://purl.obolibrary.org/obo/DOID_331	central nervous system disease		A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them.
http://purl.obolibrary.org/obo/DOID_0050426	Stevens-Johnson syndrome	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection.
http://purl.obolibrary.org/obo/DOID_0050427	xeroderma pigmentosum	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair.
http://purl.obolibrary.org/obo/DOID_0050428	nonepidermolytic palmoplantar keratoderma	http://purl.obolibrary.org/obo/DOID_3390	palmoplantar keratosis		A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles.
http://purl.obolibrary.org/obo/DOID_0050429	Hailey-Hailey disease	http://purl.obolibrary.org/obo/DOID_9182	pemphigus		A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin, particularly the groin and axillary regions, and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected.
http://purl.obolibrary.org/obo/DOID_0050430	multiple endocrine neoplasia type 2A	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.
http://purl.obolibrary.org/obo/DOID_0050431	arrhythmogenic right ventricular cardiomyopathy	http://purl.obolibrary.org/obo/DOID_0060036	intrinsic cardiomyopathy		An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle.
http://purl.obolibrary.org/obo/DOID_0050432	Asperger syndrome	http://purl.obolibrary.org/obo/DOID_0060041	autism spectrum disorder		An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development.
http://purl.obolibrary.org/obo/DOID_0050433	fatal familial insomnia	http://purl.obolibrary.org/obo/DOID_649	prion disease		A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain.
http://purl.obolibrary.org/obo/DOID_0050434	Andersen-Tawil syndrome	http://purl.obolibrary.org/obo/DOID_2843	long QT syndrome		A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly.
http://purl.obolibrary.org/obo/DOID_0050436	mulibrey nanism	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene.
http://purl.obolibrary.org/obo/DOID_0050437	Danon disease	http://purl.obolibrary.org/obo/DOID_3211	lysosomal storage disease		A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene.
http://purl.obolibrary.org/obo/DOID_0050438	Frasier syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene.
http://purl.obolibrary.org/obo/DOID_0050439	Usher syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by a combination of hearing loss and visual impairment.
http://purl.obolibrary.org/obo/DOID_0050440	familial partial lipodystrophy	http://purl.obolibrary.org/obo/DOID_0080299	partial lipodystrophy		A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.
http://purl.obolibrary.org/obo/DOID_0050441	mucosulfatidosis	http://purl.obolibrary.org/obo/DOID_1927	sphingolipidosis		A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes.
http://purl.obolibrary.org/obo/DOID_0050444	infantile Refsum disease	http://purl.obolibrary.org/obo/DOID_906	peroxisomal disease		A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes.
http://purl.obolibrary.org/obo/DOID_0050445	X-linked hypophosphatemic rickets	http://purl.obolibrary.org/obo/DOID_10609	rickets		A rickets that has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization.
http://purl.obolibrary.org/obo/DOID_0050448	white sponge nevus	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease characterized by a defect in the normal process of keratinization of the mucosa.
http://purl.obolibrary.org/obo/DOID_0050449	pachyonychia congenita	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis_in gene mutations that result in changes in keratin.
http://purl.obolibrary.org/obo/DOID_0050450	Gitelman syndrome	http://purl.obolibrary.org/obo/DOID_447	renal tubular transport disease		A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting).
http://purl.obolibrary.org/obo/DOID_0050451	Brugada syndrome	http://purl.obolibrary.org/obo/DOID_10273	heart conduction disease		A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.
http://purl.obolibrary.org/obo/DOID_0050452	mevalonic aciduria	http://purl.obolibrary.org/obo/DOID_906	peroxisomal disease		A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis.
http://purl.obolibrary.org/obo/DOID_0050453	lissencephaly	http://purl.obolibrary.org/obo/DOID_2490	congenital nervous system abnormality		A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.
http://purl.obolibrary.org/obo/DOID_0050454	periventricular nodular heterotopia	http://purl.obolibrary.org/obo/DOID_2490	congenital nervous system abnormality		A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain.
http://purl.obolibrary.org/obo/DOID_0050456	Buruli ulcer disease	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin.
http://purl.obolibrary.org/obo/DOID_0050457	Sertoli cell-only syndrome	http://purl.obolibrary.org/obo/DOID_12336	male infertility		A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development.
http://purl.obolibrary.org/obo/DOID_0050458	juvenile myelomonocytic leukemia	http://purl.obolibrary.org/obo/DOID_4972	myelodysplastic/myeloproliferative neoplasm		A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes.
http://purl.obolibrary.org/obo/DOID_0050459	hyperphosphatemia	http://purl.obolibrary.org/obo/DOID_2485	phosphorus metabolism disease		A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnormal phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene.
http://purl.obolibrary.org/obo/DOID_0050460	Wolf-Hirschhorn syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3.
http://purl.obolibrary.org/obo/DOID_0050461	aspartylglucosaminuria	http://purl.obolibrary.org/obo/DOID_3211	lysosomal storage disease		A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins.
http://purl.obolibrary.org/obo/DOID_0050462	Antley-Bixler syndrome with disordered steroidogenesis	http://purl.obolibrary.org/obo/DOID_225	syndrome		An Antley-Bixler syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene.
http://purl.obolibrary.org/obo/DOID_0050463	campomelic dysplasia	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles.
http://purl.obolibrary.org/obo/DOID_0050464	Farber lipogranulomatosis	http://purl.obolibrary.org/obo/DOID_9455	lipid storage disease		A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition.
http://purl.obolibrary.org/obo/DOID_0050465	Muir-Torre syndrome	http://purl.obolibrary.org/obo/DOID_3883	Lynch syndrome		A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes.
http://purl.obolibrary.org/obo/DOID_0050466	Loeys-Dietz syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects.
http://purl.obolibrary.org/obo/DOID_0050467	erythrokeratodermia variabilis	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis.
http://purl.obolibrary.org/obo/DOID_0050468	yellow nail syndrome	http://purl.obolibrary.org/obo/DOID_4123	nail disease		A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached.
http://purl.obolibrary.org/obo/DOID_0050469	Costello syndrome	http://purl.obolibrary.org/obo/DOID_0080690	RASopathy		A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays.
http://purl.obolibrary.org/obo/DOID_0050470	Donohue syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor.
http://purl.obolibrary.org/obo/DOID_0050471	Carney complex	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity.
http://purl.obolibrary.org/obo/DOID_0050472	monilethrix	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A hair disease that is characterized by short, easily broken hair that results in alopecia and has_material_basis_in mutations in genes for type II hair cortex keratins.
http://purl.obolibrary.org/obo/DOID_0050473	Alstrom syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene.
http://purl.obolibrary.org/obo/DOID_0050474	Netherton syndrome	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and has_material_basis_in mutations in the SPINK5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin.
http://purl.obolibrary.org/obo/DOID_0050475	Weill-Marchesani syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.
http://purl.obolibrary.org/obo/DOID_0050476	Barth syndrome	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin.
http://purl.obolibrary.org/obo/DOID_0050477	Liddle syndrome	http://purl.obolibrary.org/obo/DOID_447	renal tubular transport disease		A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel.
http://purl.obolibrary.org/obo/DOID_0050480	epidemic typhus	http://purl.obolibrary.org/obo/DOID_11256	typhus		A typhus that has_material_basis_in Rickettsia prowazekii, which is transmitted by human body louse (Pediculus humanus corporis). The infection has_symptom high fever, has_symptom cough, has_symptom rash, has_symptom severe muscle pain, has_symptom chills, has_symptom falling blood pressure, has_symptom stupor, has_symptom sensitivity to light, and has_symptom delirium.
http://purl.obolibrary.org/obo/DOID_0050481	endemic typhus	http://purl.obolibrary.org/obo/DOID_11256	typhus		A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted by fleas (Xenopsylla cheopis). The infection has symptom headache, has symptom fever, has symptom chills, has symptom myalgia, has symptom nausea, has symptom vomiting, has symptom cough and has symptom rash.
http://purl.obolibrary.org/obo/DOID_0050484	aneruptive fever	http://purl.obolibrary.org/obo/DOID_11104	spotted fever		A spotted fever that has_material_basis_in Rickettsia helvetica, which is transmitted_by ticks (Ixodes sp). The infection has_symptom fever, has_symptom headache, has_symptom myalgia.
http://purl.obolibrary.org/obo/DOID_0050485	sennetsu fever	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia.
http://purl.obolibrary.org/obo/DOID_0050486	exanthem	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease that is characterized by a rash that results from a variety of causes including bacteria, viruses, toxins, drugs and autoimmune disorders.
http://purl.obolibrary.org/obo/DOID_0050487	bacterial exanthem	http://purl.obolibrary.org/obo/DOID_104	bacterial infectious disease		An exanthem that is characterized by a diffuse, reddened, blanchable, finely papular, sandpaper like rash due to infection by group A streptococcus and the production of an erythrogenic toxin.
http://purl.obolibrary.org/obo/DOID_0050488	early congenital syphilis	http://purl.obolibrary.org/obo/DOID_9856	congenital syphilis		A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis.
http://purl.obolibrary.org/obo/DOID_0050489	multinodular goiter	http://purl.obolibrary.org/obo/DOID_12176	goiter		A goiter characterized by a multinodular enlargement of the thyroid gland.
http://purl.obolibrary.org/obo/DOID_0050490	parenchymatous neurosyphilis	http://purl.obolibrary.org/obo/DOID_9988	tertiary neurosyphilis		A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy.
http://purl.obolibrary.org/obo/DOID_0050491	meningovascular neurosyphilis	http://purl.obolibrary.org/obo/DOID_9988	tertiary neurosyphilis		A tertiary neurosyphilis that results in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has _symptom poor concentration, has_symptom memory loss, has _symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries.
http://purl.obolibrary.org/obo/DOID_0050495	exanthema subitum	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human betaherpesvirus 6B (Roseolovirus humanbeta6b) or 7 (Roseolovirus humanbeta7) and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck.
http://purl.obolibrary.org/obo/DOID_0050508	variola major	http://purl.obolibrary.org/obo/DOID_8736	smallpox		A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus (Orthopoxvirus variola). The infection results_in_formation_of lesions.
http://purl.obolibrary.org/obo/DOID_0050513	spinal polio	http://purl.obolibrary.org/obo/DOID_319	spinal cord disease		A paralytic poliomyelitis that results in destruction located in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, and has symptom paralysis of arms and legs.
http://purl.obolibrary.org/obo/DOID_0050514	bulbospinal polio	http://purl.obolibrary.org/obo/DOID_0050515	paralytic poliomyelitis		A paralytic poliomyelitis that results in destruction located in motor neurons of brainstem or located in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, has symptom difficulty swallowing, and has symptom paralysis of arms and legs.
http://purl.obolibrary.org/obo/DOID_0050515	paralytic poliomyelitis	http://purl.obolibrary.org/obo/DOID_4953	poliomyelitis		A poliomyelitis that results in destruction located in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis.
http://purl.obolibrary.org/obo/DOID_0050516	O'nyong-nyong fever	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in infection located_in joint, has_material_basis_in Onyong-nyong virus (Alphavirus onyong), which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis.
http://purl.obolibrary.org/obo/DOID_0050517	Barmah Forest virus disease	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus (Alphavirus barmah), which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash.
http://purl.obolibrary.org/obo/DOID_0050518	Ross River fever	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus (Alphavirus rossriver), which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash.
http://purl.obolibrary.org/obo/DOID_0050521	Oropouche fever	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results in infection, has_material_basis_in Oropouche virus (Orthobunyavirus oropoucheense), which is transmitted by biting midge, Culicoides paraensis. The infection has symptom fever, has symptom chills, has symptom headache, has symptom anorexia, has symptom muscle pain, has symptom joint pain, and has symptom vomiting.
http://purl.obolibrary.org/obo/DOID_0050522	Balkan hemorrhagic fever	http://purl.obolibrary.org/obo/DOID_11266	Hantavirus hemorrhagic fever with renal syndrome		A hemorrhagic fever with renal syndrome that results in infection located in kidney, has_material_basis_in Dobrava-Belgrade virus (Orthohantavirus dobravaense), which is transmitted by yellow-necked field mouse, Apodemus flavicollis. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure.
http://purl.obolibrary.org/obo/DOID_0050523	adult T-cell leukemia/lymphoma	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions.
http://purl.obolibrary.org/obo/DOID_0050524	maturity-onset diabetes of the young	http://purl.obolibrary.org/obo/DOID_9351	diabetes mellitus		A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects.
http://purl.obolibrary.org/obo/DOID_0050526	Gamstorp-Wohlfart syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs.
http://purl.obolibrary.org/obo/DOID_0050528	nonphotosensitive trichothiodystrophy 4	http://purl.obolibrary.org/obo/DOID_0111867	nonphotosensitive trichothiodystrophy		A nonphotosensitive trichothiodystrophy that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene.
http://purl.obolibrary.org/obo/DOID_0050529	adult spinal muscular atrophy	http://purl.obolibrary.org/obo/DOID_12377	spinal muscular atrophy		A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.
http://purl.obolibrary.org/obo/DOID_0050530	intermediate spinal muscular atrophy	http://purl.obolibrary.org/obo/DOID_0060160	childhood spinal muscular atrophy		A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.
http://purl.obolibrary.org/obo/DOID_0050534	congenital stationary night blindness	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves.
http://purl.obolibrary.org/obo/DOID_0050535	exudative vitreoretinopathy	http://purl.obolibrary.org/obo/DOID_2462	retinal vascular disease		A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina.
http://purl.obolibrary.org/obo/DOID_0050537	posterior polar cataract	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that is characterized by a distinctive discoid lens opacity situated posteriorly and adjacent to the posterior capsule.
http://purl.obolibrary.org/obo/DOID_0050538	Charcot-Marie-Tooth disease type 1	http://purl.obolibrary.org/obo/DOID_10595	Charcot-Marie-Tooth disease		A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons.
http://purl.obolibrary.org/obo/DOID_0050539	Charcot-Marie-Tooth disease type 2	http://purl.obolibrary.org/obo/DOID_10595	Charcot-Marie-Tooth disease		A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.
http://purl.obolibrary.org/obo/DOID_0050540	Charcot-Marie-Tooth disease type 3	http://purl.obolibrary.org/obo/DOID_10595	Charcot-Marie-Tooth disease		A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination.
http://purl.obolibrary.org/obo/DOID_0050541	Charcot-Marie-Tooth disease type 4	http://purl.obolibrary.org/obo/DOID_10595	Charcot-Marie-Tooth disease		A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance.
http://purl.obolibrary.org/obo/DOID_0050542	Charcot-Marie-Tooth disease type X	http://purl.obolibrary.org/obo/DOID_10595	Charcot-Marie-Tooth disease		A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene.
http://purl.obolibrary.org/obo/DOID_0050543	Charcot-Marie-Tooth disease intermediate type	http://purl.obolibrary.org/obo/DOID_10595	Charcot-Marie-Tooth disease		A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s.
http://purl.obolibrary.org/obo/DOID_0050544	hypermethioninemia	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body.
http://purl.obolibrary.org/obo/DOID_0050545	visceral heterotaxy	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.
http://purl.obolibrary.org/obo/DOID_0050546	congenital adrenal insufficiency	http://purl.obolibrary.org/obo/DOID_9553	adrenal gland disease		An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase.
http://purl.obolibrary.org/obo/DOID_0050547	familial medullary thyroid carcinoma	http://purl.obolibrary.org/obo/DOID_3973	medullary thyroid carcinoma		A thyroid gland medullary carcinoma that has_material_basis_in a mutation in the RET gene on chromosome 10. Familial MTC can also be caused by mutations in the NTRK1 gene located on 1q21-q22.
http://purl.obolibrary.org/obo/DOID_0050548	hereditary sensory and autonomic neuropathy	http://purl.obolibrary.org/obo/DOID_870	neuropathy		A neuropathy characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory neurons, and variable autonomic dysfunction that has_material_basis_in an inherited mutation. Loss of pain and temperature sensation is an early and predominant, but not universal, symptom.
http://purl.obolibrary.org/obo/DOID_0050553	proteasome-associated autoinflammatory syndrome 1	http://purl.obolibrary.org/obo/DOID_0060913	proteosome-associated autoinflammatory syndrome		A proteasome-associated autoinflammatory syndrome that is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation and that has_material_basis_in homozygous or compound heterozygous mutation in the PSMB8 gene on chromosome 6p21. Digenic forms of PRAAS1 can be caused by heterozygous mutation in the PSMB8 gene and heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 on chromosome 1q21.
http://purl.obolibrary.org/obo/DOID_0050554	X-linked sideroblastic anemia with ataxia	http://purl.obolibrary.org/obo/DOID_8955	sideroblastic anemia		A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene.
http://purl.obolibrary.org/obo/DOID_0050557	congenital muscular dystrophy	http://purl.obolibrary.org/obo/DOID_9884	muscular dystrophy		A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.
http://purl.obolibrary.org/obo/DOID_0050558	Ullrich congenital muscular dystrophy	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital muscular dystrophy that is characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood that has_material_basis_in mutations in COL6A1, COL6A2 and COL6A3 genes.
http://purl.obolibrary.org/obo/DOID_0050559	Fukuyama congenital muscular dystrophy	http://purl.obolibrary.org/obo/DOID_0111229	congenital muscular dystrophy-dystroglycanopathy type A		A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein.
http://purl.obolibrary.org/obo/DOID_0050560	Walker-Warburg syndrome	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1.
http://purl.obolibrary.org/obo/DOID_0050561	Lennox-Gastaut syndrome	http://purl.obolibrary.org/obo/DOID_0050704	childhood electroclinical syndrome		A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood.
http://purl.obolibrary.org/obo/DOID_0050562	West syndrome	http://purl.obolibrary.org/obo/DOID_0050703	infancy electroclinical syndrome		An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability.
http://purl.obolibrary.org/obo/DOID_0050563	nonsyndromic deafness	http://purl.obolibrary.org/obo/DOID_2742	auditory system disease		An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms.
http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A nonsyndromic deafness characterized by an autosomal dominant inheritance mode.
http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A nonsyndromic deafness characterized by an autosomal recessive inheritance mode.
http://purl.obolibrary.org/obo/DOID_0050566	X-linked nonsyndromic deafness	http://purl.obolibrary.org/obo/DOID_0050735	X-linked monogenic disease		A nonsyndromic deafness characterized by an X-linked inheritance mode.
http://purl.obolibrary.org/obo/DOID_0050567	orofacial cleft	http://purl.obolibrary.org/obo/DOID_225	syndrome		A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development.
http://purl.obolibrary.org/obo/DOID_0050568	spondylocostal dysostosis	http://purl.obolibrary.org/obo/DOID_1934	dysostosis		A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together.
http://purl.obolibrary.org/obo/DOID_0050569	Seckel syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability.
http://purl.obolibrary.org/obo/DOID_0050570	congenital disorder of glycosylation type I	http://purl.obolibrary.org/obo/DOID_5212	congenital disorder of glycosylation		A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins.
http://purl.obolibrary.org/obo/DOID_0050571	congenital disorder of glycosylation type II	http://purl.obolibrary.org/obo/DOID_5212	congenital disorder of glycosylation		A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain.
http://purl.obolibrary.org/obo/DOID_0050572	cone-rod dystrophy	http://purl.obolibrary.org/obo/DOID_8466	retinal degeneration		A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells.
http://purl.obolibrary.org/obo/DOID_0050573	2-hydroxyglutaric aciduria	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage.
http://purl.obolibrary.org/obo/DOID_0050574	L-2-hydroxyglutaric aciduria	http://purl.obolibrary.org/obo/DOID_2786	cerebellar disease		An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia).
http://purl.obolibrary.org/obo/DOID_0050575	D-2-hydroxyglutaric aciduria	http://purl.obolibrary.org/obo/DOID_0050573	2-hydroxyglutaric aciduria		An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory.
http://purl.obolibrary.org/obo/DOID_0050576	Senior-Loken syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease.
http://purl.obolibrary.org/obo/DOID_0050577	cranioectodermal dysplasia	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies.
http://purl.obolibrary.org/obo/DOID_0050578	occult macular dystrophy	http://purl.obolibrary.org/obo/DOID_4448	macular degeneration		A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings.
http://purl.obolibrary.org/obo/DOID_0050579	glycogen storage disease XV	http://purl.obolibrary.org/obo/DOID_2747	glycogen storage disease		A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the GYG1 gene that encodes glycogenin-1.
http://purl.obolibrary.org/obo/DOID_0050580	hereditary lymphedema	http://purl.obolibrary.org/obo/DOID_4977	lymphedema		A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system.
http://purl.obolibrary.org/obo/DOID_0050581	brachydactyly	http://purl.obolibrary.org/obo/DOID_1934	dysostosis		A dysostosis characterized by short fingers and toes.
http://purl.obolibrary.org/obo/DOID_0050584	gummatous syphilis	http://purl.obolibrary.org/obo/DOID_8200	tertiary syphilis		A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ.
http://purl.obolibrary.org/obo/DOID_0050585	congenital generalized lipodystrophy	http://purl.obolibrary.org/obo/DOID_0080298	complete generalized lipodystrophy		A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance.
http://purl.obolibrary.org/obo/DOID_0050587	trichotillomania	http://purl.obolibrary.org/obo/DOID_10937	impulse control disorder		An impulse control disorder that involves the uncontrollable plucking of ones hair.
http://purl.obolibrary.org/obo/DOID_0050588	muscular dystrophy-dystroglycanopathy type B1	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase.
http://purl.obolibrary.org/obo/DOID_0050589	inflammatory bowel disease	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		An intestinal disease characterized by inflammation located in all parts of digestive tract.
http://purl.obolibrary.org/obo/DOID_0050590	severe congenital neutropenia	http://purl.obolibrary.org/obo/DOID_1227	neutropenia		A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.
http://purl.obolibrary.org/obo/DOID_0050591	tooth agenesis	http://purl.obolibrary.org/obo/DOID_1091	tooth disease		A tooth disease characterized by failure to develop one or more missing teeth.
http://purl.obolibrary.org/obo/DOID_0050592	asphyxiating thoracic dystrophy	http://purl.obolibrary.org/obo/DOID_0080006	bone development disease		A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.
http://purl.obolibrary.org/obo/DOID_0050593	primary congenital glaucoma	http://purl.obolibrary.org/obo/DOID_1686	glaucoma		A glaucoma that is characterized by damage to the optic nerves that reduces peripheral vision and leads to blindness, has_material_basis_in mutation in the MYOC gene and appears before the age of 5 without other associated abnormalities.
http://purl.obolibrary.org/obo/DOID_0050594	glycogen storage disease IX	http://purl.obolibrary.org/obo/DOID_2747	glycogen storage disease		A glycogen storage disease characterized by deficiency of hepatic phosphorylase kinase activity.
http://purl.obolibrary.org/obo/DOID_0050596	taeniasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted by ingestion of undercooked contaminated meat.
http://purl.obolibrary.org/obo/DOID_0050597	intestinal schistosomiasis	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia.
http://purl.obolibrary.org/obo/DOID_0050598	extrapulmonary tuberculosis	http://purl.obolibrary.org/obo/DOID_399	tuberculosis		A tuberculosis that occurs at body sites other than the lung.
http://purl.obolibrary.org/obo/DOID_0050599	abdominal tuberculosis	http://purl.obolibrary.org/obo/DOID_0050598	extrapulmonary tuberculosis		An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas.
http://purl.obolibrary.org/obo/DOID_0050600	ABCD syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB).
http://purl.obolibrary.org/obo/DOID_0050601	ADULT syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.
http://purl.obolibrary.org/obo/DOID_0050602	triple-A syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by achalasia, adrenal insufficiency and alacrima and has_material_basis_in mutations in the AAAS gene that encodes ALADIN within the nuclear envelope and results in dysfunction of the autonomic nervous system.
http://purl.obolibrary.org/obo/DOID_0050603	acheiropody	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene.
http://purl.obolibrary.org/obo/DOID_0050604	acrocapitofemoral dysplasia	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia characterized by postnatal-onset disproportionate short stature, relatively large head, narrow thorax, lumbar lordosis, short limbs, and brachydactyly with small broad nails and that has_material_basis_in homozygous mutation in the Indian hedgehog homolog (IHH) gene on chromosome 2q35.
http://purl.obolibrary.org/obo/DOID_0050605	acrodermatitis enteropathica	http://purl.obolibrary.org/obo/DOID_896	metal metabolism disorder		A metal metabolism disorder characterized by dermatitis around bodily openings and the tips of fingers and toes, alopecia and diarrhea and has_material_basis_in mutation in the SLC39A4 gene that encodes a zinc uptake protein and results in zinc deficiency.
http://purl.obolibrary.org/obo/DOID_0050606	acrokeratosis verruciformis	http://purl.obolibrary.org/obo/DOID_161	keratosis		A keratosis that has_material_basis_in mutations in the ATP2A2 gene.
http://purl.obolibrary.org/obo/DOID_0050608	Askin's tumor	http://purl.obolibrary.org/obo/DOID_3369	Ewing sarcoma		An Ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated.
http://purl.obolibrary.org/obo/DOID_0050610	oral cavity carcinoma in situ	http://purl.obolibrary.org/obo/DOID_8719	in situ carcinoma		An in situ carcinoma of the oral cavity that is located_in the epithelium. It is the most common cause of leukoplakia and associated with the development of squamous cell carcinoma.
http://purl.obolibrary.org/obo/DOID_0050611	pharynx carcinoma in situ	http://purl.obolibrary.org/obo/DOID_8719	in situ carcinoma		An in situ carcinoma of the pharynx that is located_in the epithelium. It is associated with the development of squamous cell carcinoma.
http://purl.obolibrary.org/obo/DOID_0050612	gallbladder carcinoma in situ	http://purl.obolibrary.org/obo/DOID_8719	in situ carcinoma		An in situ carcinoma located_in the surface epithelium of the gallbladder that most commonly develops into adenocarcinoma.
http://purl.obolibrary.org/obo/DOID_0050613	bile duct carcinoma in situ	http://purl.obolibrary.org/obo/DOID_8719	in situ carcinoma		An in situ carcinoma located_in the surface epithelium of the bile duct that most commonly develops into adenocarcinoma.
http://purl.obolibrary.org/obo/DOID_0050614	bronchus carcinoma in situ	http://purl.obolibrary.org/obo/DOID_8719	in situ carcinoma		An in situ carcinoma located_in the bronchus that most commonly develops into adenocarcinoma.
http://purl.obolibrary.org/obo/DOID_0050615	respiratory system cancer	http://purl.obolibrary.org/obo/DOID_1579	respiratory system disease		An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract.
http://purl.obolibrary.org/obo/DOID_0050619	paranasal sinus cancer	http://purl.obolibrary.org/obo/DOID_1352	paranasal sinus disease		A respiratory system cancer that is located_in the paranasal sinuses.
http://purl.obolibrary.org/obo/DOID_0050620	infiltrating renal pelvis transitional cell carcinoma	http://purl.obolibrary.org/obo/DOID_5974	renal pelvis transitional cell carcinoma		A renal pelvis transitional cell carcinoma located_in the transitional epithelium of the renal pelvis.
http://purl.obolibrary.org/obo/DOID_0050621	respiratory system benign neoplasm	http://purl.obolibrary.org/obo/DOID_1579	respiratory system disease		An organ system benign neoplasm that is located in the respiratory system which extends from the nasal sinuses to the diaphragm.
http://purl.obolibrary.org/obo/DOID_0050622	reproductive organ benign neoplasm	http://purl.obolibrary.org/obo/DOID_15	reproductive system disease		An organ system benign neoplasm that is located_in reproductive system organs.
http://purl.obolibrary.org/obo/DOID_0050623	bladder benign neoplasm	http://purl.obolibrary.org/obo/DOID_731	urinary system benign neoplasm		A urinary system benign neoplasm located_in the bladder including papillomas, leiomyomas, fibromas, hemangiomas, neurofibromas and lipomas.
http://purl.obolibrary.org/obo/DOID_0050624	gastrointestinal system benign neoplasm	http://purl.obolibrary.org/obo/DOID_77	gastrointestinal system disease		An organ system benign neoplasm located_in gastrointestinal tract organs.
http://purl.obolibrary.org/obo/DOID_0050625	biliary tract benign neoplasm	http://purl.obolibrary.org/obo/DOID_9741	biliary tract disease		A hepatobiliary benign neoplasm located_in the biliary tract.
http://purl.obolibrary.org/obo/DOID_0050626	gastrointestinal neuroendocrine tumor	http://purl.obolibrary.org/obo/DOID_3119	gastrointestinal system cancer		A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells.
http://purl.obolibrary.org/obo/DOID_0050628	advanced sleep phase syndrome	http://purl.obolibrary.org/obo/DOID_535	sleep disorder		A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning.
http://purl.obolibrary.org/obo/DOID_0050629	Aicardi-Goutieres syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections.
http://purl.obolibrary.org/obo/DOID_0050630	Aland Island eye disease	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene.
http://purl.obolibrary.org/obo/DOID_0050631	Allan-Herndon-Dudley syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that has_material_basis_in mutation in the MCT8 gene on chromosome Xq13.
http://purl.obolibrary.org/obo/DOID_0050632	oculocutaneous albinism	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by abnormal pigmentation of the skin, hair and eyes.
http://purl.obolibrary.org/obo/DOID_0050633	ocular albinism 1	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis_in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin.
http://purl.obolibrary.org/obo/DOID_0050634	alopecia universalis	http://purl.obolibrary.org/obo/DOID_987	alopecia		An alopecia characterized by the complete loss of hair on the scalp and body.
http://purl.obolibrary.org/obo/DOID_0050635	alternating hemiplegia of childhood	http://purl.obolibrary.org/obo/DOID_10969	hemiplegia		A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body.
http://purl.obolibrary.org/obo/DOID_0050636	hereditary systemic amyloidosis 2	http://purl.obolibrary.org/obo/DOID_9120	amyloidosis		An amyloidosis that is characterized by the abnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys.
http://purl.obolibrary.org/obo/DOID_0050637	Finnish type amyloidosis	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and has_symptom corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa.
http://purl.obolibrary.org/obo/DOID_0050638	hereditary systemic amyloidosis 1	http://purl.obolibrary.org/obo/DOID_9120	amyloidosis		An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene.
http://purl.obolibrary.org/obo/DOID_0050639	primary cutaneous amyloidosis	http://purl.obolibrary.org/obo/DOID_9120	amyloidosis		An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis.
http://purl.obolibrary.org/obo/DOID_0050640	anauxetic dysplasia 1	http://purl.obolibrary.org/obo/DOID_0080942	anauxetic dysplasia		An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.
http://purl.obolibrary.org/obo/DOID_0050641	Rh deficiency syndrome	http://purl.obolibrary.org/obo/DOID_583	hemolytic anemia		A hemolytic anemia that is characterized by deficiency of Rh antigens, has_material_basis_in homozygous or compound heterozygous mutation in the RHAG gene on chromosome 6p12.
http://purl.obolibrary.org/obo/DOID_0050642	hypochromic microcytic anemia	http://purl.obolibrary.org/obo/DOID_11252	microcytic anemia		A microcytic anemia characterized by paler than normal blood cells.
http://purl.obolibrary.org/obo/DOID_0050644	arterial calcification of infancy	http://purl.obolibrary.org/obo/DOID_0050828	artery disease		A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall.
http://purl.obolibrary.org/obo/DOID_0050645	arterial tortuosity syndrome	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.
http://purl.obolibrary.org/obo/DOID_0050646	distal arthrogryposis	http://purl.obolibrary.org/obo/DOID_66	muscle tissue disease		A muscle tissue disease characterized by congenital joint contractures of hand and feet.
http://purl.obolibrary.org/obo/DOID_0050647	Arts syndrome	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene.
http://purl.obolibrary.org/obo/DOID_0050648	atelosteogenesis	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns.
http://purl.obolibrary.org/obo/DOID_0050649	atransferrinemia	http://purl.obolibrary.org/obo/DOID_896	metal metabolism disorder		A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22.
http://purl.obolibrary.org/obo/DOID_0050650	familial atrial fibrillation	http://purl.obolibrary.org/obo/DOID_0060224	atrial fibrillation		An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes.
http://purl.obolibrary.org/obo/DOID_0050651	atrioventricular septal defect	http://purl.obolibrary.org/obo/DOID_1681	heart septal defect		A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.
http://purl.obolibrary.org/obo/DOID_0050654	Baller-Gerold syndrome	http://purl.obolibrary.org/obo/DOID_11971	synostosis		A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone.
http://purl.obolibrary.org/obo/DOID_0050655	Bamforth-Lazarus syndrome	http://purl.obolibrary.org/obo/DOID_1459	hypothyroidism		A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22.
http://purl.obolibrary.org/obo/DOID_0050656	pseudo-TORCH syndrome 1	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in the OCLN gene on chromosome 5q13.2.
http://purl.obolibrary.org/obo/DOID_0050657	Cowden syndrome 1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23.
http://purl.obolibrary.org/obo/DOID_0050658	Bart-Pumphrey syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.
http://purl.obolibrary.org/obo/DOID_0050659	biotin-responsive basal ganglia disease	http://purl.obolibrary.org/obo/DOID_679	basal ganglia disease		A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has_symptom confusion, has_symptom seizure, has_symptom ataxia, has_symptom dystonia, has_symptom supranuclear facial palsy, has_symptom external ophthalmoplegia, and has_symptom dysphagia.
http://purl.obolibrary.org/obo/DOID_0050660	Beare-Stevenson cutis gyrata syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.
http://purl.obolibrary.org/obo/DOID_0050661	vitelliform macular dystrophy	http://purl.obolibrary.org/obo/DOID_4448	macular degeneration		A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss.
http://purl.obolibrary.org/obo/DOID_0050662	bestrophinopathy	http://purl.obolibrary.org/obo/DOID_4448	macular degeneration		A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12.
http://purl.obolibrary.org/obo/DOID_0050663	Bethlem myopathy	http://purl.obolibrary.org/obo/DOID_0050557	congenital muscular dystrophy		A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly.
http://purl.obolibrary.org/obo/DOID_0050664	Bietti crystalline corneoretinal dystrophy	http://purl.obolibrary.org/obo/DOID_8466	retinal degeneration		A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35.
http://purl.obolibrary.org/obo/DOID_0050665	fetal alcohol syndrome	http://purl.obolibrary.org/obo/DOID_0050696	fetal alcohol spectrum disorder		A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction.
http://purl.obolibrary.org/obo/DOID_0050666	partial fetal alcohol syndrome	http://purl.obolibrary.org/obo/DOID_0050696	fetal alcohol spectrum disorder		A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure.
http://purl.obolibrary.org/obo/DOID_0050667	alcohol-related neurodevelopmental disorder	http://purl.obolibrary.org/obo/DOID_0050696	fetal alcohol spectrum disorder		A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure.
http://purl.obolibrary.org/obo/DOID_0050668	alcohol-related birth defects	http://purl.obolibrary.org/obo/DOID_0050696	fetal alcohol spectrum disorder		A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure.
http://purl.obolibrary.org/obo/DOID_0050669	spastic cerebral palsy	http://purl.obolibrary.org/obo/DOID_1969	cerebral palsy		A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements.
http://purl.obolibrary.org/obo/DOID_0050670	ataxic cerebral palsy	http://purl.obolibrary.org/obo/DOID_1969	cerebral palsy		A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing.
http://purl.obolibrary.org/obo/DOID_0050671	female breast cancer	http://purl.obolibrary.org/obo/DOID_1612	breast cancer		A breast cancer that develops from breast tissue in females.
http://purl.obolibrary.org/obo/DOID_0050672	dyskinetic cerebral palsy	http://purl.obolibrary.org/obo/DOID_1969	cerebral palsy		A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions.
http://purl.obolibrary.org/obo/DOID_0050673	mixed cerebral palsy	http://purl.obolibrary.org/obo/DOID_1969	cerebral palsy		A cerebral palsy that is caused by injury to both the pyramidal and extra pyramidal areas of the brain, which results in both the tight muscle tone and the involuntary movements. The individual have difficulty with speaking and swallowing.
http://purl.obolibrary.org/obo/DOID_0050674	congenital bile acid synthesis defect	http://purl.obolibrary.org/obo/DOID_1701	steroid inherited metabolic disorder		A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver.
http://purl.obolibrary.org/obo/DOID_0050675	Birk-Barel syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24.
http://purl.obolibrary.org/obo/DOID_0050676	Birt-Hogg-Dube syndrome	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease that is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax, has_material_basis_in heterozygous mutation in the gene encoding folliculin (FLCN) on chromosome 17p11.
http://purl.obolibrary.org/obo/DOID_0050677	Bjornstad syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35.
http://purl.obolibrary.org/obo/DOID_0050678	Blau syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene.
http://purl.obolibrary.org/obo/DOID_0050679	blue cone monochromacy	http://purl.obolibrary.org/obo/DOID_13911	achromatopsia		An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in alteration in the red (OPN1LW) and green (OPN1MW) visual pigment gene cluster on chromosome Xq28 or in the locus control region for the red and green pigment genes, located adjacent to and 5-prime of the pigment gene cluster.
http://purl.obolibrary.org/obo/DOID_0050680	Boomerang dysplasia	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the FLNB gene on chromosome 3p14.
http://purl.obolibrary.org/obo/DOID_0050681	Borjeson-Forssman-Lehmann syndrome	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene.
http://purl.obolibrary.org/obo/DOID_0050682	Athabaskan brainstem dysgenesis syndrome	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene.
http://purl.obolibrary.org/obo/DOID_0050683	Bothnia retinal dystrophy	http://purl.obolibrary.org/obo/DOID_8501	fundus dystrophy		A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene.
http://purl.obolibrary.org/obo/DOID_0050684	Bowen-Conradi syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13.
http://purl.obolibrary.org/obo/DOID_0050685	small cell carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.
http://purl.obolibrary.org/obo/DOID_0050686	organ system cancer	http://purl.obolibrary.org/obo/DOID_162	cancer		A cancer that is classified based on the organ it starts in.
http://purl.obolibrary.org/obo/DOID_0050687	cell type cancer	http://purl.obolibrary.org/obo/DOID_162	cancer		A cancer that is classified by the type of cell from which it is derived.
http://purl.obolibrary.org/obo/DOID_0050688	anal canal cancer	http://purl.obolibrary.org/obo/DOID_5672	large intestine cancer		A large intestine cancer that is located_in the terminal part of the large intestine.
http://purl.obolibrary.org/obo/DOID_0050689	brachydactyly-syndactyly syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.
http://purl.obolibrary.org/obo/DOID_0050690	brachyolmia	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature.
http://purl.obolibrary.org/obo/DOID_0050691	branchiooculofacial syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts.
http://purl.obolibrary.org/obo/DOID_0050692	Brody myopathy	http://purl.obolibrary.org/obo/DOID_913	atrophic muscular disease		A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal muscles.
http://purl.obolibrary.org/obo/DOID_0050693	Brooke-Spiegler syndrome	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12.
http://purl.obolibrary.org/obo/DOID_0050694	Brown-Vialetto-Van Laere syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth cranial nerves.
http://purl.obolibrary.org/obo/DOID_0050695	malignant pleural solitary fibrous tumor	http://purl.obolibrary.org/obo/DOID_5158	pleural cancer		A pleural cancer that is located_in mesenchymal cells in the areolar tissue subjacent to the mesothelial-lined pleura.
http://purl.obolibrary.org/obo/DOID_0050696	fetal alcohol spectrum disorder	http://purl.obolibrary.org/obo/DOID_0060038	specific developmental disorder		A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy.
http://purl.obolibrary.org/obo/DOID_0050697	chorioamnionitis	http://purl.obolibrary.org/obo/DOID_780	placenta disease		A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection.
http://purl.obolibrary.org/obo/DOID_0050698	funisitis	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord.
http://purl.obolibrary.org/obo/DOID_0050699	Dent disease	http://purl.obolibrary.org/obo/DOID_447	renal tubular transport disease		A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure.
http://purl.obolibrary.org/obo/DOID_0050700	cardiomyopathy	http://purl.obolibrary.org/obo/DOID_114	heart disease		A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.
http://purl.obolibrary.org/obo/DOID_0050701	electroclinical syndrome	http://purl.obolibrary.org/obo/DOID_1826	epilepsy		An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.
http://purl.obolibrary.org/obo/DOID_0050702	neonatal period electroclinical syndrome	http://purl.obolibrary.org/obo/DOID_0050701	electroclinical syndrome		An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.
http://purl.obolibrary.org/obo/DOID_0050703	infancy electroclinical syndrome	http://purl.obolibrary.org/obo/DOID_0050701	electroclinical syndrome		An electroclinical syndrome with onset in infancy occurring between birth and one year of age.
http://purl.obolibrary.org/obo/DOID_0050704	childhood electroclinical syndrome	http://purl.obolibrary.org/obo/DOID_0070309	absence epilepsy		An electroclinical syndrome with onset in childhood between one and 12 years of age.
http://purl.obolibrary.org/obo/DOID_0050705	adolescence-adult electroclinical syndrome	http://purl.obolibrary.org/obo/DOID_0070309	absence epilepsy		An electroclinical syndrome with onset in adolescence and adulthood.
http://purl.obolibrary.org/obo/DOID_0050706	variable age at onset electroclinical syndrome	http://purl.obolibrary.org/obo/DOID_0050701	electroclinical syndrome		An electroclinial syndrome that is characterized by development of seizures later in life with a variable age of onset and duration.
http://purl.obolibrary.org/obo/DOID_0050708	early onset absence epilepsy	http://purl.obolibrary.org/obo/DOID_0050704	childhood electroclinical syndrome		A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years.
http://purl.obolibrary.org/obo/DOID_0050709	early infantile epileptic encephalopathy	http://purl.obolibrary.org/obo/DOID_0050702	neonatal period electroclinical syndrome		A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.
http://purl.obolibrary.org/obo/DOID_0050710	3-methylcrotonyl-CoA carboxylase deficiency	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy.
http://purl.obolibrary.org/obo/DOID_0050711	aceruloplasminemia	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus.
http://purl.obolibrary.org/obo/DOID_0050712	AGAT deficiency	http://purl.obolibrary.org/obo/DOID_0050798	cerebral creatine deficiency syndrome		An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis.
http://purl.obolibrary.org/obo/DOID_0050713	COX deficiency, infantile mitochondrial myopathy	http://purl.obolibrary.org/obo/DOID_3762	cytochrome-c oxidase deficiency disease		A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis.
http://purl.obolibrary.org/obo/DOID_0050715	methylmalonic aciduria and homocystinuria type cblC	http://purl.obolibrary.org/obo/DOID_14749	methylmalonic acidemia		A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase.
http://purl.obolibrary.org/obo/DOID_0050716	methylmalonic aciduria and homocystinuria type cblD	http://purl.obolibrary.org/obo/DOID_14749	methylmalonic acidemia		A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities.
http://purl.obolibrary.org/obo/DOID_0050717	methylmalonic aciduria and homocystinuria type cblF	http://purl.obolibrary.org/obo/DOID_14749	methylmalonic acidemia		A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13.
http://purl.obolibrary.org/obo/DOID_0050718	vitamin metabolic disorder	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism.
http://purl.obolibrary.org/obo/DOID_0050719	cerebral folate receptor alpha deficiency	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy.
http://purl.obolibrary.org/obo/DOID_0050720	ornithine translocase deficiency	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder that has_material_basis_in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood.
http://purl.obolibrary.org/obo/DOID_0050721	serine deficiency	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine.
http://purl.obolibrary.org/obo/DOID_0050722	PHGDH deficiency	http://purl.obolibrary.org/obo/DOID_0050721	serine deficiency		A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis.
http://purl.obolibrary.org/obo/DOID_0050723	PSAT deficiency	http://purl.obolibrary.org/obo/DOID_0050721	serine deficiency		A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid.
http://purl.obolibrary.org/obo/DOID_0050724	PSPH deficiency	http://purl.obolibrary.org/obo/DOID_0050721	serine deficiency		A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine.
http://purl.obolibrary.org/obo/DOID_0050725	tyrosinemia type II	http://purl.obolibrary.org/obo/DOID_9275	tyrosinemia		A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels.
http://purl.obolibrary.org/obo/DOID_0050726	tyrosinemia type I	http://purl.obolibrary.org/obo/DOID_9275	tyrosinemia		A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body.
http://purl.obolibrary.org/obo/DOID_0050727	tyrosinemia type III	http://purl.obolibrary.org/obo/DOID_9275	tyrosinemia		A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine.
http://purl.obolibrary.org/obo/DOID_0050728	glycogen metabolism disorder	http://purl.obolibrary.org/obo/DOID_2978	carbohydrate metabolic disorder		A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen.
http://purl.obolibrary.org/obo/DOID_0050729	Chanarin-Dorfman syndrome	http://purl.obolibrary.org/obo/DOID_9455	lipid storage disease		A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.
http://purl.obolibrary.org/obo/DOID_0050730	coenzyme Q10 deficiency disease	http://purl.obolibrary.org/obo/DOID_700	mitochondrial metabolism disease		A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis.
http://purl.obolibrary.org/obo/DOID_0050731	vitamin B12 deficiency	http://purl.obolibrary.org/obo/DOID_0050718	vitamin metabolic disorder		A vitamin metabolic disorder that results from low blood levels of vitamin B12.
http://purl.obolibrary.org/obo/DOID_0050732	methylmalonic aciduria and homocystinuria type cblE	http://purl.obolibrary.org/obo/DOID_14749	methylmalonic acidemia		A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15 that causes inborn error of vitamin B12 metabolism.
http://purl.obolibrary.org/obo/DOID_0050733	methylmalonic aciduria and homocystinuria type cblG	http://purl.obolibrary.org/obo/DOID_14749	methylmalonic acidemia		A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTR gene on chromosome 1q43 that causes an inborn error of vitamin B12 metabolism.
http://purl.obolibrary.org/obo/DOID_0050734	congenital intrinsic factor deficiency	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption.
http://purl.obolibrary.org/obo/DOID_0050735	X-linked monogenic disease	http://purl.obolibrary.org/obo/DOID_0050177	monogenic disease		A monogenic disease that has_material_basis_in mutations in genes on the X chromosome.
http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease	http://purl.obolibrary.org/obo/DOID_0050739	autosomal genetic disease		An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease	http://purl.obolibrary.org/obo/DOID_0050739	autosomal genetic disease		An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
http://purl.obolibrary.org/obo/DOID_0050738	Y-linked monogenic disease	http://purl.obolibrary.org/obo/DOID_0050177	monogenic disease		A monogenic disease that has_material_basis_in mutations on the Y chromosome.
http://purl.obolibrary.org/obo/DOID_0050739	autosomal genetic disease	http://purl.obolibrary.org/obo/DOID_0050177	monogenic disease		A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
http://purl.obolibrary.org/obo/DOID_0050740	Qazi Markouizos syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation.
http://purl.obolibrary.org/obo/DOID_0050741	alcohol dependence	http://purl.obolibrary.org/obo/DOID_9973	substance dependence		A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.
http://purl.obolibrary.org/obo/DOID_0050742	nicotine dependence	http://purl.obolibrary.org/obo/DOID_9973	substance dependence		A substance dependence that is characterized by a physical dependence on nicotine.
http://purl.obolibrary.org/obo/DOID_0050743	mature T-cell and NK-cell lymphoma	http://purl.obolibrary.org/obo/DOID_0081312	T-cell non-Hodgkin lymphoma		A T-cell non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells.
http://purl.obolibrary.org/obo/DOID_0050744	anaplastic large cell lymphoma	http://purl.obolibrary.org/obo/DOID_0060060	non-Hodgkin lymphoma		A non-Hodgkin lymphoma involving aberrant T-cells.
http://purl.obolibrary.org/obo/DOID_0050745	diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/DOID_0081452	large B-cell lymphoma		A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern.
http://purl.obolibrary.org/obo/DOID_0050746	mantle cell lymphoma	http://purl.obolibrary.org/obo/DOID_707	B-cell lymphoma		A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles.
http://purl.obolibrary.org/obo/DOID_0050748	marginal zone lymphoma	http://purl.obolibrary.org/obo/DOID_707	B-cell lymphoma		A B-cell lymphoma arising from the marginal zone of lymphoid tissues that is characterized by the presence of small to medium sized atypical lymphocytes.
http://purl.obolibrary.org/obo/DOID_0050749	peripheral T-cell lymphoma	http://purl.obolibrary.org/obo/DOID_0050743	mature T-cell and NK-cell lymphoma		A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus.
http://purl.obolibrary.org/obo/DOID_0050750	splenic marginal zone lymphoma	http://purl.obolibrary.org/obo/DOID_672	spleen cancer		A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp.
http://purl.obolibrary.org/obo/DOID_0050751	T-cell large granular lymphocyte leukemia	http://purl.obolibrary.org/obo/DOID_5603	T-cell acute lymphoblastic leukemia		A T-cell acute lymphocytic leukemia that exhibits an unexplained, chronic (greater than 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood.
http://purl.obolibrary.org/obo/DOID_0050752	amyotrophic lateral sclerosis type 8	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20.
http://purl.obolibrary.org/obo/DOID_0050753	cerebellar ataxia	http://purl.obolibrary.org/obo/DOID_2786	cerebellar disease		A hereditary ataxia that is characterized by ataxia originating in the cerebellum.
http://purl.obolibrary.org/obo/DOID_0050754	early-onset ataxia with oculomotor apraxia and hypoalbuminemia	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene.
http://purl.obolibrary.org/obo/DOID_0050755	spinocerebellar ataxia with axonal neuropathy 2	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, cerebellar atrophy and elevated alpha-fetoprotein that has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.13. Oculomotor apraxia is common, but not universal.
http://purl.obolibrary.org/obo/DOID_0050757	deafness-dystonia-optic neuronopathy syndrome	http://purl.obolibrary.org/obo/DOID_700	mitochondrial metabolism disease		A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria.
http://purl.obolibrary.org/obo/DOID_0050758	metabolic acidosis	http://purl.obolibrary.org/obo/DOID_0060158	acquired metabolic disease		An acquired metabolic disease that characterized by excessive production of acid.
http://purl.obolibrary.org/obo/DOID_0050759	myotonic dystrophy type 2	http://purl.obolibrary.org/obo/DOID_450	myotonic disease		A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.
http://purl.obolibrary.org/obo/DOID_0050760	X-linked myopathy with excessive autophagy	http://purl.obolibrary.org/obo/DOID_423	myopathy		A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0050762	adenylosuccinase lyase deficiency	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder that is characterized by microcephaly, aggressive behavior, cerebellar hypoplasia and seizures, has_material_basis_in autosomal recessive inheritance of mutation in the ADSL gene resulting in adenylosuccinate lyase deficiency.
http://purl.obolibrary.org/obo/DOID_0050763	ARC syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3.
http://purl.obolibrary.org/obo/DOID_0050764	Armfield syndrome	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28.
http://purl.obolibrary.org/obo/DOID_0050765	neuroacanthocytosis	http://purl.obolibrary.org/obo/DOID_1289	neurodegenerative disease		A neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders.
http://purl.obolibrary.org/obo/DOID_0050766	choreaacanthocytosis	http://purl.obolibrary.org/obo/DOID_0050765	neuroacanthocytosis		A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21.
http://purl.obolibrary.org/obo/DOID_0050767	midface dysplasia	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that is characterized by hypertelorism, a wide nose, vertical midline cleft and encephalocele.
http://purl.obolibrary.org/obo/DOID_0050768	mitochondrial complex V (ATP synthase) deficiency nuclear type 1	http://purl.obolibrary.org/obo/DOID_0111143	mitochondrial complex V (ATP synthase) deficiency		A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11.
http://purl.obolibrary.org/obo/DOID_0050769	N syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, T-cell leukemia, cryptorchidism, hypospadias and spasticity.
http://purl.obolibrary.org/obo/DOID_0050770	polycystic liver disease	http://purl.obolibrary.org/obo/DOID_409	liver disease		A liver disease that is characterized by the presence of multiple cysts located_in the liver.
http://purl.obolibrary.org/obo/DOID_0050771	pheochromocytoma	http://purl.obolibrary.org/obo/DOID_0060089	endocrine organ benign neoplasm		An endocrine organ benign neoplasm that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones that cause either episodic or persistent high blood pressure.
http://purl.obolibrary.org/obo/DOID_0050772	spastic ataxia 1	http://purl.obolibrary.org/obo/DOID_0050952	spastic ataxia		A spastic ataxia characterized by early-onset cerebellar ataxia, spasticity, pyramidal syndrome and peripheral neuropathy, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the VAMP1 gene on chromosome 12p13.
http://purl.obolibrary.org/obo/DOID_0050773	paraganglioma	http://purl.obolibrary.org/obo/DOID_0050771	pheochromocytoma		A pheochromocytoma that arises in extraadrenal sympathetic ganglia.
http://purl.obolibrary.org/obo/DOID_0050774	rapadilino syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24.
http://purl.obolibrary.org/obo/DOID_0050775	schneckenbecken dysplasia	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31.
http://purl.obolibrary.org/obo/DOID_0050776	non-syndromic X-linked intellectual disability	http://purl.obolibrary.org/obo/DOID_0050889	non-syndromic intellectual disability		A non-syndromic intellectual disability characterized by a X-linked inheritance pattern.
http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome	http://purl.obolibrary.org/obo/DOID_936	brain disease		A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
http://purl.obolibrary.org/obo/DOID_0050778	Meckel syndrome	http://purl.obolibrary.org/obo/DOID_0060340	ciliopathy		A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.
http://purl.obolibrary.org/obo/DOID_0050779	hydrolethalus syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by multiple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation.
http://purl.obolibrary.org/obo/DOID_0050781	Ogden syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0050782	Zollinger-Ellison syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach.
http://purl.obolibrary.org/obo/DOID_0050783	secondary progressive multiple sclerosis	http://purl.obolibrary.org/obo/DOID_2377	multiple sclerosis		A multiple sclerosis that is characterized by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks.
http://purl.obolibrary.org/obo/DOID_0050784	primary progressive multiple sclerosis	http://purl.obolibrary.org/obo/DOID_2377	multiple sclerosis		A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.
http://purl.obolibrary.org/obo/DOID_0050785	progressive relapsing multiple sclerosis	http://purl.obolibrary.org/obo/DOID_2377	multiple sclerosis		A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset.
http://purl.obolibrary.org/obo/DOID_0050787	juvenile polyposis syndrome	http://purl.obolibrary.org/obo/DOID_77	gastrointestinal system disease		A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum.
http://purl.obolibrary.org/obo/DOID_0050788	proximal symphalangism	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness.
http://purl.obolibrary.org/obo/DOID_0050789	tarsal-carpal coalition syndrome	http://purl.obolibrary.org/obo/DOID_1934	dysostosis		A dysostosis that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion.
http://purl.obolibrary.org/obo/DOID_0050790	fibular hypoplasia and complex brachydactyly	http://purl.obolibrary.org/obo/DOID_0080049	acromesomelic dysplasia		An acromesomelic dysplasia that is characterized by severe reduction or absence of the fibula and complex brachydactyly.
http://purl.obolibrary.org/obo/DOID_0050791	persistent Mullerian duct syndrome	http://purl.obolibrary.org/obo/DOID_3765	pseudohermaphroditism		A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male.
http://purl.obolibrary.org/obo/DOID_0050792	multiple cutaneous and mucosal venous malformations	http://purl.obolibrary.org/obo/DOID_866	vein disease		A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions that has_material_basis_in heterozygous mutation in the TEK gene on chromosome 9p21.
http://purl.obolibrary.org/obo/DOID_0050793	short QT syndrome	http://purl.obolibrary.org/obo/DOID_10273	heart conduction disease		A heart conduction disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart.
http://purl.obolibrary.org/obo/DOID_0050794	multiple synostoses syndrome	http://purl.obolibrary.org/obo/DOID_1934	dysostosis		A dysostosis that is characterized by characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion.
http://purl.obolibrary.org/obo/DOID_0050795	cone dystrophy	http://purl.obolibrary.org/obo/DOID_5679	retinal disease		A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.
http://purl.obolibrary.org/obo/DOID_0050796	achalasia microcephaly syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections).
http://purl.obolibrary.org/obo/DOID_0050797	peroxisomal acyl-CoA oxidase deficiency	http://purl.obolibrary.org/obo/DOID_906	peroxisomal disease		A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that has_material_basis_in homozygous mutation in the ACOX1 gene on chromosome 17q25.1.
http://purl.obolibrary.org/obo/DOID_0050798	cerebral creatine deficiency syndrome	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0050799	guanidinoacetate methyltransferase deficiency	http://purl.obolibrary.org/obo/DOID_0050798	cerebral creatine deficiency syndrome		A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has_material_basis_in homozygous or compound heterozygous mutation in the GAMT gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0050800	cerebral creatine deficiency syndrome 1	http://purl.obolibrary.org/obo/DOID_0050798	cerebral creatine deficiency syndrome		A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0050801	androgenic alopecia	http://purl.obolibrary.org/obo/DOID_987	alopecia		An alopecia that is characterized by M-shaped hair line recession and thinning of hair at the crown of the head in males.
http://purl.obolibrary.org/obo/DOID_0050802	Ehlers-Danlos syndrome spondylodysplastic type 2	http://purl.obolibrary.org/obo/DOID_13359	Ehlers-Danlos syndrome		An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene.
http://purl.obolibrary.org/obo/DOID_0050803	glioblastoma classical subtype	http://purl.obolibrary.org/obo/DOID_3068	glioblastoma		A glioblastoma that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations.
http://purl.obolibrary.org/obo/DOID_0050804	glioblastoma proneural subtype	http://purl.obolibrary.org/obo/DOID_3068	glioblastoma		A glioblastoma that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification.
http://purl.obolibrary.org/obo/DOID_0050805	glioblastoma mesenchymal subtype	http://purl.obolibrary.org/obo/DOID_3068	glioblastoma		A glioblastoma that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene.
http://purl.obolibrary.org/obo/DOID_0050806	glioblastoma neural subtype	http://purl.obolibrary.org/obo/DOID_3068	glioblastoma		A glioblastoma that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons.
http://purl.obolibrary.org/obo/DOID_0050807	Kahrizi syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene.
http://purl.obolibrary.org/obo/DOID_0050809	mucopolysaccharidosis IX	http://purl.obolibrary.org/obo/DOID_12798	mucopolysaccharidosis		A mucopolysaccharidosis characterized by a deficiency in hyaluronidase.
http://purl.obolibrary.org/obo/DOID_0050810	biotin deficiency	http://purl.obolibrary.org/obo/DOID_5113	nutritional deficiency disease		A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth.
http://purl.obolibrary.org/obo/DOID_0050811	congenital adrenal hyperplasia	http://purl.obolibrary.org/obo/DOID_1701	steroid inherited metabolic disorder		A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations resulting from steroidogenic enzyme deficiency.
http://purl.obolibrary.org/obo/DOID_0050812	spondyloepimetaphyseal dysplasia, Pakistani type	http://purl.obolibrary.org/obo/DOID_0080027	spondyloepimetaphyseal dysplasia		A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.
http://purl.obolibrary.org/obo/DOID_0050813	spondyloepiphyseal dysplasia with congenital joint dislocations	http://purl.obolibrary.org/obo/DOID_0112280	spondyloepiphyseal dysplasia		A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints.
http://purl.obolibrary.org/obo/DOID_0050814	temtamy preaxial brachydactyly syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene.
http://purl.obolibrary.org/obo/DOID_0050816	urofacial syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding.
http://purl.obolibrary.org/obo/DOID_0050817	Stargardt disease	http://purl.obolibrary.org/obo/DOID_10871	age related macular degeneration		An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.
http://purl.obolibrary.org/obo/DOID_0050818	transcobalamin II deficiency	http://purl.obolibrary.org/obo/DOID_0050731	vitamin B12 deficiency		A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII.
http://purl.obolibrary.org/obo/DOID_0050820	atrioventricular block	http://purl.obolibrary.org/obo/DOID_10273	heart conduction disease		A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.
http://purl.obolibrary.org/obo/DOID_0050821	first-degree atrioventricular block	http://purl.obolibrary.org/obo/DOID_0050820	atrioventricular block		An atrioventricular block that is characterized by prolonged PR interval on electrocardiogram caused by delayed conduction from atria to ventricles through the atrioventricular node.
http://purl.obolibrary.org/obo/DOID_0050822	second-degree atrioventricular block	http://purl.obolibrary.org/obo/DOID_0050820	atrioventricular block		An atrioventricular block that is characterized by progressive prolongation of the PR interval on consecutive beats followed by a blocked P wave on electrocardiogram or intermittently non-conducted P waves not preceded by PR changes on electrocardiogram caused by a conduction block between the atria and the ventricles through the atrioventricular node.
http://purl.obolibrary.org/obo/DOID_0050823	third-degree atrioventricular block	http://purl.obolibrary.org/obo/DOID_0050820	atrioventricular block		An atrioventricular block that is characterized by bradycardia, hypotension, hemodynamic instability and complete dissociation between P waves and QRS complexes on electrocardiogram caused when conduction fails to propagate from atria to ventricles.
http://purl.obolibrary.org/obo/DOID_0050824	sinoatrial node disease	http://purl.obolibrary.org/obo/DOID_10273	heart conduction disease		A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm.
http://purl.obolibrary.org/obo/DOID_0050825	endocardium disease	http://purl.obolibrary.org/obo/DOID_114	heart disease		A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart.
http://purl.obolibrary.org/obo/DOID_0050826	tricuspid valve disease	http://purl.obolibrary.org/obo/DOID_4079	heart valve disease		A heart valve disease that is characterized by valvular insufficiency or valvular stenosis, located_in tricuspid valve between the right atrium and right ventricle.
http://purl.obolibrary.org/obo/DOID_0050827	rheumatic heart disease	http://purl.obolibrary.org/obo/DOID_4079	heart valve disease		A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.
http://purl.obolibrary.org/obo/DOID_0050828	artery disease	http://purl.obolibrary.org/obo/DOID_178	vascular disease		A vascular disease that is located_in an artery.
http://purl.obolibrary.org/obo/DOID_0050829	pericardium disease	http://purl.obolibrary.org/obo/DOID_1287	cardiovascular system disease		A cardiovascular system disease that is located_in the fibrous sac surrounding the heart.
http://purl.obolibrary.org/obo/DOID_0050830	peripheral artery disease	http://purl.obolibrary.org/obo/DOID_0050828	artery disease		An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs.
http://purl.obolibrary.org/obo/DOID_0050831	familial encephalopathy with neuroserpin inclusion bodies	http://purl.obolibrary.org/obo/DOID_1289	neurodegenerative disease		A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern.
http://purl.obolibrary.org/obo/DOID_0050832	pyrimidine metabolic disorder	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		An inherited metabolic disorder involving dysfunction of pyrimidine metabolism.
http://purl.obolibrary.org/obo/DOID_0050833	orotic aciduria	http://purl.obolibrary.org/obo/DOID_0050832	pyrimidine metabolic disorder		A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine.
http://purl.obolibrary.org/obo/DOID_0050834	CHARGE syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.
http://purl.obolibrary.org/obo/DOID_0050835	generalized dystonia	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia that affects most or all of the body.
http://purl.obolibrary.org/obo/DOID_0050836	focal dystonia	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia that is localized to a specific part of the body.
http://purl.obolibrary.org/obo/DOID_0050837	multifocal dystonia	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia that involves two or more unrelated body parts.
http://purl.obolibrary.org/obo/DOID_0050838	segmental dystonia	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia that affects two or more adjacent parts of the body.
http://purl.obolibrary.org/obo/DOID_0050839	anismus	http://purl.obolibrary.org/obo/DOID_0050836	focal dystonia		A focal dystonia that is characterized by the failure of the pelvic floor muscles to relax during defecation.
http://purl.obolibrary.org/obo/DOID_0050840	cervical dystonia	http://purl.obolibrary.org/obo/DOID_0050836	focal dystonia		A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards.
http://purl.obolibrary.org/obo/DOID_0050841	focal hand dystonia	http://purl.obolibrary.org/obo/DOID_0050836	focal dystonia		A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions.
http://purl.obolibrary.org/obo/DOID_0050842	oculogyric crisis	http://purl.obolibrary.org/obo/DOID_0050836	focal dystonia		A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes.
http://purl.obolibrary.org/obo/DOID_0050843	oromandibular dystonia	http://purl.obolibrary.org/obo/DOID_0050836	focal dystonia		A focal dystonia that is characterized by distortions of the mouth and tongue.
http://purl.obolibrary.org/obo/DOID_0050844	spasmodic dystonia	http://purl.obolibrary.org/obo/DOID_0050836	focal dystonia		A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech.
http://purl.obolibrary.org/obo/DOID_0050845	cranio-facial dystonia	http://purl.obolibrary.org/obo/DOID_0050836	focal dystonia		A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck.
http://purl.obolibrary.org/obo/DOID_0050846	hemidystonia	http://purl.obolibrary.org/obo/DOID_0050837	multifocal dystonia		A multifocal dystonia that involves the arm and leg on the same side of the body.
http://purl.obolibrary.org/obo/DOID_0050847	sleep apnea	http://purl.obolibrary.org/obo/DOID_535	sleep disorder		A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep.
http://purl.obolibrary.org/obo/DOID_0050848	obstructive sleep apnea	http://purl.obolibrary.org/obo/DOID_0050847	sleep apnea		A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.
http://purl.obolibrary.org/obo/DOID_0050849	periampullary adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		An ampulla of Vater neoplasm that is characterized by glandular dysplastic lesion having pre-malignant potential.
http://purl.obolibrary.org/obo/DOID_0050850	diabetic encephalopathy	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes.
http://purl.obolibrary.org/obo/DOID_0050851	glomerulosclerosis	http://purl.obolibrary.org/obo/DOID_2921	glomerulonephritis		A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney.
http://purl.obolibrary.org/obo/DOID_0050852	limb ischemia	http://purl.obolibrary.org/obo/DOID_326	ischemia		An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply.
http://purl.obolibrary.org/obo/DOID_0050853	chronic venous insufficiency	http://purl.obolibrary.org/obo/DOID_10128	venous insufficiency		A venous insufficiency that is characterized by lower extremity swelling, hyperpigmentation, pruritus and venous ulceration caused by blood pooling in the veins.
http://purl.obolibrary.org/obo/DOID_0050854	Muckle-Wells syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44.
http://purl.obolibrary.org/obo/DOID_0050855	renal fibrosis	http://purl.obolibrary.org/obo/DOID_557	kidney disease		A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.
http://purl.obolibrary.org/obo/DOID_0050856	oppositional defiant disorder	http://purl.obolibrary.org/obo/DOID_0060038	specific developmental disorder		A specific developmental disorder that is characterized by a pattern of angry mood, defiant behavior and vindictiveness in children and adolescents.
http://purl.obolibrary.org/obo/DOID_0050857	Perrault syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by sensorineural hearing loss and ovarian failure.
http://purl.obolibrary.org/obo/DOID_0050858	Marshall-Smith syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.
http://purl.obolibrary.org/obo/DOID_0050859	hemorrhagic cystitis	http://purl.obolibrary.org/obo/DOID_1679	cystitis		A cystitis that is characterized by dysuria, hematuria and hemorrhage located_in the lower urinary tract.
http://purl.obolibrary.org/obo/DOID_0050860	colorectal adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum.
http://purl.obolibrary.org/obo/DOID_0050861	colorectal adenocarcinoma	http://purl.obolibrary.org/obo/DOID_0080199	colorectal carcinoma		A colorectal carcinoma that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_0050862	pyometritis	http://purl.obolibrary.org/obo/DOID_345	uterine disease		A uterine disease that is characterized by inflammation of the uterus and is associated with pus in the uterine cavity.
http://purl.obolibrary.org/obo/DOID_0050863	arteritic anterior ischemic optic neuropathy	http://purl.obolibrary.org/obo/DOID_12010	anterior ischemic optic neuropathy		An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by damage to the medium-sized blood vessels supplying the optic nerves following temporal arteritis.
http://purl.obolibrary.org/obo/DOID_0050864	non-arteritic anterior ischemic optic neuropathy	http://purl.obolibrary.org/obo/DOID_12010	anterior ischemic optic neuropathy		An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by acute ischemic damage to the optic nerve due to non-inflammatory small vessel disease.
http://purl.obolibrary.org/obo/DOID_0050865	tongue squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_8649	tongue cancer		A head and neck squamous cell carcinoma that is located_in the tongue.
http://purl.obolibrary.org/obo/DOID_0050866	oral squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_8618	oral cavity cancer		An oral cavity cancer that has_material_basis_in squamous cells.
http://purl.obolibrary.org/obo/DOID_0050868	hepatocellular adenoma	http://purl.obolibrary.org/obo/DOID_916	liver benign neoplasm		A liver benign neoplasm that is located_in liver cells and that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.
http://purl.obolibrary.org/obo/DOID_0050869	villous adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		An adenoma that is located_in the colon and other places in the gastrointestinal tract and sometimes in other parts of the body.
http://purl.obolibrary.org/obo/DOID_0050870	pulmonary adenocarcinoma in situ	http://purl.obolibrary.org/obo/DOID_8800	lung carcinoma in situ		A lung carcinoma in situ that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern.
http://purl.obolibrary.org/obo/DOID_0050871	fibroma	http://purl.obolibrary.org/obo/DOID_0060123	connective tissue benign neoplasm		A connective tissue benign neoplasm composed of fibrous or connective tissues that derives_from mesenchymal tissue.
http://purl.obolibrary.org/obo/DOID_0050872	large cell neuroendocrine carcinoma	http://purl.obolibrary.org/obo/DOID_4556	lung large cell carcinoma		A lung large cell carcinoma that derives_from neuroendocrine cells.
http://purl.obolibrary.org/obo/DOID_0050873	follicular lymphoma	http://purl.obolibrary.org/obo/DOID_707	B-cell lymphoma		A B-cell lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts).
http://purl.obolibrary.org/obo/DOID_0050876	Caroli disease	http://purl.obolibrary.org/obo/DOID_4138	bile duct disease		A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts.
http://purl.obolibrary.org/obo/DOID_0050877	pancreatic agenesis	http://purl.obolibrary.org/obo/DOID_26	pancreas disease		A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth.
http://purl.obolibrary.org/obo/DOID_0050879	fragile X-associated tremor/ataxia syndrome	http://purl.obolibrary.org/obo/DOID_0050953	X-linked hereditary ataxia		A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA.
http://purl.obolibrary.org/obo/DOID_0050880	Koolen de Vries syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene.
http://purl.obolibrary.org/obo/DOID_0050881	inclusion body myopathy with Paget disease of bone and frontotemporal dementia	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein.
http://purl.obolibrary.org/obo/DOID_0050882	spinocerebellar ataxia 5	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_material_basis_in mutation in the SPTBN2 gene.
http://purl.obolibrary.org/obo/DOID_0050883	infantile cerebellar-retinal degeneration	http://purl.obolibrary.org/obo/DOID_1289	neurodegenerative disease		A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration.
http://purl.obolibrary.org/obo/DOID_0050884	triosephosphate isomerase deficiency	http://purl.obolibrary.org/obo/DOID_4194	glucose metabolism disease		A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait.
http://purl.obolibrary.org/obo/DOID_0050885	IMAGe syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_material_basis_in heterozygous mutation in the CDKN1C gene.
http://purl.obolibrary.org/obo/DOID_0050886	Troyer syndrome	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene.
http://purl.obolibrary.org/obo/DOID_0050887	Townes-Brocks syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations.
http://purl.obolibrary.org/obo/DOID_0050888	syndromic intellectual disability	http://purl.obolibrary.org/obo/DOID_1059	intellectual disability		An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.
http://purl.obolibrary.org/obo/DOID_0050889	non-syndromic intellectual disability	http://purl.obolibrary.org/obo/DOID_1059	intellectual disability		An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms.
http://purl.obolibrary.org/obo/DOID_0050890	synucleinopathy	http://purl.obolibrary.org/obo/DOID_1289	neurodegenerative disease		A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells.
http://purl.obolibrary.org/obo/DOID_0050891	adrenal cortical adenoma	http://purl.obolibrary.org/obo/DOID_656	adrenal adenoma		An adrenal adenoma that is a benign tumor of the adrenal cortex.
http://purl.obolibrary.org/obo/DOID_0050892	adrenal gland pheochromocytoma	http://purl.obolibrary.org/obo/DOID_0080347	malignant pheochromocytoma		A malignant pheochromocytoma that is characterized by overproduction of adrenaline.
http://purl.obolibrary.org/obo/DOID_0050893	gallbladder adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		A gallbladder benign neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder.
http://purl.obolibrary.org/obo/DOID_0050894	ameloblastoma	http://purl.obolibrary.org/obo/DOID_0060084	cell type benign neoplasm		A cell type benign neoplasm that has_material_basis_in odontogenic epithelium.
http://purl.obolibrary.org/obo/DOID_0050895	bone ameloblastoma	http://purl.obolibrary.org/obo/DOID_0060094	bone benign neoplasm		A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone.
http://purl.obolibrary.org/obo/DOID_0050896	bone squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_2762	bone carcinoma		A bone carcinoma that derives_from squamous epithelial cells.
http://purl.obolibrary.org/obo/DOID_0050897	bone chondrosarcoma	http://purl.obolibrary.org/obo/DOID_3371	chondrosarcoma		A chondrosarcoma that is located_in bone.
http://purl.obolibrary.org/obo/DOID_0050898	phalanx chondroma	http://purl.obolibrary.org/obo/DOID_2602	chondroma		A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells.
http://purl.obolibrary.org/obo/DOID_0050899	brain stem medulloblastoma	http://purl.obolibrary.org/obo/DOID_4203	brain stem cancer		A brain stem cancer that begins in the lower part of the brain on the floor of the skull.
http://purl.obolibrary.org/obo/DOID_0050900	sacrum chordoma	http://purl.obolibrary.org/obo/DOID_4153	spinal chordoma		A spinal chordoma that is located_in the sacrum.
http://purl.obolibrary.org/obo/DOID_0050901	corpus callosum oligodendroglioma	http://purl.obolibrary.org/obo/DOID_3187	brain oligodendroglioma		A brain oligodendroglioma located_in the corpus callosum.
http://purl.obolibrary.org/obo/DOID_0050902	medulloblastoma	http://purl.obolibrary.org/obo/DOID_4706	infratentorial cancer		An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor.
http://purl.obolibrary.org/obo/DOID_0050903	parietal lobe ependymoma	http://purl.obolibrary.org/obo/DOID_14384	parietal lobe neoplasm		A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain.
http://purl.obolibrary.org/obo/DOID_0050904	salivary gland carcinoma	http://purl.obolibrary.org/obo/DOID_8850	salivary gland cancer		A salivary gland cancer that has_material_basis_in epithelial cells.
http://purl.obolibrary.org/obo/DOID_0050905	inflammatory myofibroblastic tumor	http://purl.obolibrary.org/obo/DOID_3350	mesenchymal cell neoplasm		A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells.
http://purl.obolibrary.org/obo/DOID_0050906	conjunctival nevus	http://purl.obolibrary.org/obo/DOID_4251	conjunctival disease		A sensory organ benign neoplasm that is located in the eye conjunctiva.
http://purl.obolibrary.org/obo/DOID_0050907	mixed extragonadal germ cell cancer	http://purl.obolibrary.org/obo/DOID_3306	mixed germ cell cancer		A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle.
http://purl.obolibrary.org/obo/DOID_0050908	myelodysplastic syndrome	http://purl.obolibrary.org/obo/DOID_4960	bone marrow cancer		A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.
http://purl.obolibrary.org/obo/DOID_0050909	extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue	http://purl.obolibrary.org/obo/DOID_0050748	marginal zone lymphoma		A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production.
http://purl.obolibrary.org/obo/DOID_0050910	cecum adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
http://purl.obolibrary.org/obo/DOID_0050911	appendix carcinoid tumor	http://purl.obolibrary.org/obo/DOID_11239	appendix cancer		An appendix cancer that has_material_basis_in neurodendocrine cells.
http://purl.obolibrary.org/obo/DOID_0050912	colon adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
http://purl.obolibrary.org/obo/DOID_0050913	large intestine adenocarcinoma	http://purl.obolibrary.org/obo/DOID_5672	large intestine cancer		A large intestine cancer that has_material_basis_in epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_0050914	large intestine adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine.
http://purl.obolibrary.org/obo/DOID_0050915	rectal adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		An rectal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
http://purl.obolibrary.org/obo/DOID_0050916	bronchus mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/DOID_4531	mucoepidermoid carcinoma		A mucoepidermoid carcinoma located_in the bronchus.
http://purl.obolibrary.org/obo/DOID_0050917	lung combined type small cell adenocarcinoma	http://purl.obolibrary.org/obo/DOID_5421	lung combined type small cell carcinoma		A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin.
http://purl.obolibrary.org/obo/DOID_0050918	vaginal carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A vaginal cancer that has_material_basis_in epithelial cells.
http://purl.obolibrary.org/obo/DOID_0050919	trachea mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/DOID_4531	mucoepidermoid carcinoma		A mucoepidermoid carcinoma located_in the trachea.
http://purl.obolibrary.org/obo/DOID_0050920	tonsil squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_8858	tonsil cancer		A tonsil cancer that has_material_basis_in squamous cells.
http://purl.obolibrary.org/obo/DOID_0050921	pharynx squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A pharynx cancer that has_material_basis_in squamous cells.
http://purl.obolibrary.org/obo/DOID_0050922	gastrointestinal carcinoma	http://purl.obolibrary.org/obo/DOID_3119	gastrointestinal system cancer		A gastrointestinal system cancer that has_material_basis_in epithelial cells.
http://purl.obolibrary.org/obo/DOID_0050923	spindle epithelial tumor with thymus-like differentiation tumor	http://purl.obolibrary.org/obo/DOID_3963	thyroid gland carcinoma		A thyroid gland carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands.
http://purl.obolibrary.org/obo/DOID_0050924	striated muscle rhabdoid tumor	http://purl.obolibrary.org/obo/DOID_4045	muscle cancer		A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm.
http://purl.obolibrary.org/obo/DOID_0050925	small intestine carcinoid neuroendocrine tumor	http://purl.obolibrary.org/obo/DOID_169	neuroendocrine tumor		A neuroendocrine tumor that has_material_basis_in cells of the neuroendocrine system and that is located in the small intestine.
http://purl.obolibrary.org/obo/DOID_0050926	jejunal adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin.
http://purl.obolibrary.org/obo/DOID_0050927	duodenum adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
http://purl.obolibrary.org/obo/DOID_0050928	ovarian melanoma	http://purl.obolibrary.org/obo/DOID_2394	ovarian cancer		An ovarian cancer that has_material_basis_in melanoctyes.
http://purl.obolibrary.org/obo/DOID_0050929	mucosal melanoma	http://purl.obolibrary.org/obo/DOID_1909	melanoma		A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract.
http://purl.obolibrary.org/obo/DOID_0050930	sublingual gland adenoid cystic carcinoma	http://purl.obolibrary.org/obo/DOID_8849	sublingual gland cancer		A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ.
http://purl.obolibrary.org/obo/DOID_0050931	parotid gland adenoid cystic carcinoma	http://purl.obolibrary.org/obo/DOID_9036	parotid gland cancer		A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ.
http://purl.obolibrary.org/obo/DOID_0050932	lung mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/DOID_3905	lung carcinoma		A lung carcinoma that has_material_basis_in a combination of squamous cells, mucus secreting cells and intermediate cells.
http://purl.obolibrary.org/obo/DOID_0050933	ovarian serous carcinoma	http://purl.obolibrary.org/obo/DOID_4001	ovarian carcinoma		An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid.
http://purl.obolibrary.org/obo/DOID_0050934	ovarian clear cell carcinoma	http://purl.obolibrary.org/obo/DOID_4001	ovarian carcinoma		An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells.
http://purl.obolibrary.org/obo/DOID_0050935	cervical neuroblastoma	http://purl.obolibrary.org/obo/DOID_371	extracranial neuroblastoma		An extracranial neuroblastoma that has_material_basis_in immature nerve cells.
http://purl.obolibrary.org/obo/DOID_0050936	extra-adrenal pheochromocytoma	http://purl.obolibrary.org/obo/DOID_0080347	malignant pheochromocytoma		A malignant pheochromocytoma that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin.
http://purl.obolibrary.org/obo/DOID_0050937	retroperitoneal neuroblastoma	http://purl.obolibrary.org/obo/DOID_5875	retroperitoneal cancer		A retroperitoneal cancer that has_material_basis_in immature nerve cells.
http://purl.obolibrary.org/obo/DOID_0050938	breast lobular carcinoma	http://purl.obolibrary.org/obo/DOID_3459	breast carcinoma		A breast carcinoma that derives_from breast lobules (milk glands).
http://purl.obolibrary.org/obo/DOID_0050939	uterine corpus endometrial carcinoma	http://purl.obolibrary.org/obo/DOID_9460	uterine corpus cancer		A uterine corpus cancer that is derives_from the inner lining of the uterus.
http://purl.obolibrary.org/obo/DOID_0050940	endocervical adenocarcinoma	http://purl.obolibrary.org/obo/DOID_7519	endocervical carcinoma		An endocervical carcinoma that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_0050941	spastic ataxia 2	http://purl.obolibrary.org/obo/DOID_0050952	spastic ataxia		A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, has_material_basis_in homozygous mutation in the KIF1C gene on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0050942	spastic ataxia 3	http://purl.obolibrary.org/obo/DOID_0050952	spastic ataxia		A spastic ataxia that is characterized by cerebellar ataxia, spasticity, hyperreflexia, urinary urgency and dysarthria, has_material_basis_in homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33.
http://purl.obolibrary.org/obo/DOID_0050943	spastic ataxia 4	http://purl.obolibrary.org/obo/DOID_0050952	spastic ataxia		A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has_material_basis_in homozygous mutation in the MTPAP gene on chromosome 10p11.
http://purl.obolibrary.org/obo/DOID_0050944	spastic ataxia 5	http://purl.obolibrary.org/obo/DOID_0050952	spastic ataxia		A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has_material_basis_in homozygous mutation in the AFG3L2 gene on chromosome 18p11.
http://purl.obolibrary.org/obo/DOID_0050945	spastic ataxia 7	http://purl.obolibrary.org/obo/DOID_0050952	spastic ataxia		A spastic ataxia that is characterized by poor visual acuity, cerebellar ataxia, dysarthria and pyramidal signs.
http://purl.obolibrary.org/obo/DOID_0050946	Charlevoix-Saguenay spastic ataxia	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12.
http://purl.obolibrary.org/obo/DOID_0050947	hereditary hypophosphatemic rickets with hypercalciuria	http://purl.obolibrary.org/obo/DOID_10609	rickets		A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain.
http://purl.obolibrary.org/obo/DOID_0050948	autosomal dominant hypophosphatemic rickets	http://purl.obolibrary.org/obo/DOID_10609	rickets		A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance.
http://purl.obolibrary.org/obo/DOID_0050949	autosomal recessive hypophosphatemic rickets	http://purl.obolibrary.org/obo/DOID_10609	rickets		A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.
http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia	http://purl.obolibrary.org/obo/DOID_0050753	cerebellar ataxia		A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance.
http://purl.obolibrary.org/obo/DOID_0050951	hereditary ataxia	http://purl.obolibrary.org/obo/DOID_1289	neurodegenerative disease		A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements.
http://purl.obolibrary.org/obo/DOID_0050952	spastic ataxia	http://purl.obolibrary.org/obo/DOID_0050951	hereditary ataxia		A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy.
http://purl.obolibrary.org/obo/DOID_0050953	X-linked hereditary ataxia	http://purl.obolibrary.org/obo/DOID_0050951	hereditary ataxia		A hereditary ataxia that is characterized by X-linked inheritance.
http://purl.obolibrary.org/obo/DOID_0050954	spinocerebellar ataxia 1	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22.
http://purl.obolibrary.org/obo/DOID_0050955	spinocerebellar ataxia 2	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by ataxia, bulbar palsy, peripheral neuropathy chorea and muscle atrophy, has_material_basis_in mutation in the ATXN2 gene.
http://purl.obolibrary.org/obo/DOID_0050956	spinocerebellar ataxia 6	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, has_material_basis_in mutation in the CACNA1A gene.
http://purl.obolibrary.org/obo/DOID_0050957	spinocerebellar ataxia 4	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and peripheral neuropathy that has_material_basis_in heterozygous trinucleotide repeat expansion (GGCn) in the ZFHX3 gene on chromosome 16q22.
http://purl.obolibrary.org/obo/DOID_0050958	spinocerebellar ataxia 7	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, has_material_basis_in mutation in the ATXN7 gene.
http://purl.obolibrary.org/obo/DOID_0050959	spinocerebellar ataxia 8	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by slowly progressive dysarthria, bradykinesia, nystagmus and loss of coordination, has_material_basis_in mutation in the ATXN80S gene.
http://purl.obolibrary.org/obo/DOID_0050960	spinocerebellar ataxia 10	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by gait ataxia, upper-limb ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the ATXN10 gene.
http://purl.obolibrary.org/obo/DOID_0050961	spinocerebellar ataxia 11	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by ataxia, nystagmus, pyramidal abnormalities and peripheral neuropathy, has_material_basis_in mutation in the TTBK2 gene.
http://purl.obolibrary.org/obo/DOID_0050962	spinocerebellar ataxia 12	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by minor ataxia and intention tremor, has_material_basis_in CAG expansion of the PPP2R2B gene.
http://purl.obolibrary.org/obo/DOID_0050963	spinocerebellar ataxia 13	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by developmental delay, ataxia, myoclinic jerks, dysarthria, dysphagia and seizure, and has_material_basis_in mutation in the KCNC3 gene.
http://purl.obolibrary.org/obo/DOID_0050964	spinocerebellar ataxia 14	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the PRKCG gene.
http://purl.obolibrary.org/obo/DOID_0050965	spinocerebellar ataxia 15	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, nystagmus, dysarthria and dysphagia, has_material_basis_in mutation in the ITPR1 gene.
http://purl.obolibrary.org/obo/DOID_0050967	spinocerebellar ataxia 17	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by chorea, dementia, dystonia, spasiticity and seizure, has_material_basis_in CAG repeat expansion in the TBP gene.
http://purl.obolibrary.org/obo/DOID_0050968	autosomal dominant cerebellar ataxia, deafness and narcolepsy	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by ataxia, sensorineal deafness, narcolepsy with cataplexy, and dementia, has_material_basis_in mutation in the DNMT1 gene.
http://purl.obolibrary.org/obo/DOID_0050969	spinocerebellar ataxia 18	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by cerebellar ataxia and sensory neuropathy, has_material_basis_in mutation on chromosome 7q22-q23.
http://purl.obolibrary.org/obo/DOID_0050970	spinocerebellar ataxia 19/22	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by mild cerebellar ataxia, cognitive impairment, myoclonus and tremor.
http://purl.obolibrary.org/obo/DOID_0050971	spinocerebellar ataxia 20	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria.
http://purl.obolibrary.org/obo/DOID_0050972	spinocerebellar ataxia 21	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by progressive cerebellar ataxia, cognitive impairment, tremor, bradykinesia and rigidity.
http://purl.obolibrary.org/obo/DOID_0050973	spinocerebellar ataxia 23	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominnant cerebellar ataxia that is characterized by slowly progressive ataxia, dysarthria, slow saccades and hyperreflexia, has_material_basis_in mutation in the PDYN gene.
http://purl.obolibrary.org/obo/DOID_0050974	spinocerebellar ataxia 25	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by ataxia and sensory neuropathy, has_material_basis_in repeat CAG expansion on chromosome 2p15-p21.
http://purl.obolibrary.org/obo/DOID_0050975	spinocerebellar ataxia 26	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and oculomotor abnormalities, has_material_basis_in mutation in the EEF2 gene.
http://purl.obolibrary.org/obo/DOID_0050976	spinocerebellar ataxia 27A	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by general cerebellar dysfunction manifest as gait disturbances, ataxia, tremor, dysarthria, and gaze-evoked nystagmus and has_material_basis_in heterozygous mutation in the FGF14 gene on chromosome 13q33. Some patients have heterozygous deletions of chromosome 13q33 affecting the FGF14 and ITGBL1 genes, which may thus be considered a contiguous gene deletion syndrome.
http://purl.obolibrary.org/obo/DOID_0050977	spinocerebellar ataxia 28	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene.
http://purl.obolibrary.org/obo/DOID_0050978	spinocerebellar ataxia 29	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has_material_basis_in mutation in the ITPR1 gene.
http://purl.obolibrary.org/obo/DOID_0050979	spinocerebellar ataxia 30	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by slowly progressive gait abnormalities and dysarthria, has_material_basis_in mutation in the ODZ3 gene.
http://purl.obolibrary.org/obo/DOID_0050980	spinocerebellar ataxia 31	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by late-onset ataxia, dysarthria and horizontal nystagmus, has_material_basis_in repeat expansion mutation in the BEAN1 gene.
http://purl.obolibrary.org/obo/DOID_0050981	spinocerebellar ataxia 34	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by papulosquamous, ichthyosiform plaques at birth and progressive ataxia, dysarthria, nystagmus and hyporeflexia, has_material_basis_in mutation in the ELOVL4 gene.
http://purl.obolibrary.org/obo/DOID_0050982	spinocerebellar ataxia 35	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by a slowly progressive ataxia, tremor, dysarthria and hyperreflexia, has_material_basis_in mutation in the TGM6 gene.
http://purl.obolibrary.org/obo/DOID_0050983	spinocerebellar ataxia 36	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, sensiorineural hearing loss and muscle atrophy, has_material_basis_in mutation in the NOP56 gene.
http://purl.obolibrary.org/obo/DOID_0050984	spinocerebellar ataxia 37	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia and dysarthria, presenting in mid-adulthood, and has_material_basis_in mutation to the DAB1 gene.
http://purl.obolibrary.org/obo/DOID_0050985	spinocerebellar ataxia 38	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and nystagmus, presenting in mid-adulthood, and has_material_basis_in mutation to the ELOVL5 gene.
http://purl.obolibrary.org/obo/DOID_0050986	spinocerebellar ataxia 40	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalities, dysarthria, tremor and hyporeflexia, has_material_basis_in mutation in the CCDC88C gene.
http://purl.obolibrary.org/obo/DOID_0050987	hypomyelinating leukoencephalopathy	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities.
http://purl.obolibrary.org/obo/DOID_0050988	GRID2-related spinocerebellar ataxia	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by cognitive delay, abnormal eye movements, and hearing loss.
http://purl.obolibrary.org/obo/DOID_0050989	episodic ataxia type 1	http://purl.obolibrary.org/obo/DOID_963	episodic ataxia		An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1.
http://purl.obolibrary.org/obo/DOID_0050990	episodic ataxia type 2	http://purl.obolibrary.org/obo/DOID_963	episodic ataxia		An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A.
http://purl.obolibrary.org/obo/DOID_0050991	episodic ataxia type 3	http://purl.obolibrary.org/obo/DOID_963	episodic ataxia		An episodic ataxia that is characterized by periodic ataxia, myokymia, vertigo and tinnitus, and has_material_basis_in autosomal dominant inheritance.
http://purl.obolibrary.org/obo/DOID_0050992	episodic ataxia type 4	http://purl.obolibrary.org/obo/DOID_963	episodic ataxia		An episodic ataxia that is characterized by vertigo and diplopia.
http://purl.obolibrary.org/obo/DOID_0050993	episodic ataxia type 5	http://purl.obolibrary.org/obo/DOID_963	episodic ataxia		An episodic ataxia that is characterized by dysarthria and vertigo, develops in early childhood, and has_material_basis_in autosomal dominant inheritance of mutation in the CACNB4 gene.
http://purl.obolibrary.org/obo/DOID_0050994	episodic ataxia type 6	http://purl.obolibrary.org/obo/DOID_963	episodic ataxia		An episodic ataxia that is characterized by nystagmus and dysarthria, and has_material_basis_in autosomal dominant inheritance of mutation in the SLC1A3 gene.
http://purl.obolibrary.org/obo/DOID_0050995	episodic ataxia type 7	http://purl.obolibrary.org/obo/DOID_963	episodic ataxia		An episodic ataxia that is characterized by episodes of weakness and dysarthria, and has_material_basis_in autosomal dominant inheritance.
http://purl.obolibrary.org/obo/DOID_0050996	episodic ataxia type 8	http://purl.obolibrary.org/obo/DOID_963	episodic ataxia		An episodic ataxia that is characterized by weakness, dysarthria and myokymia, and has_material_basis_in autosomal dominant inheritance of mutation in the UBR4 gene.
http://purl.obolibrary.org/obo/DOID_0050997	cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia.
http://purl.obolibrary.org/obo/DOID_0050998	nonprogressive cerebellar ataxia with mental retardation	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the CAMTA1 gene.
http://purl.obolibrary.org/obo/DOID_0050999	autosomal recessive spinocerebellar ataxia 10	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia that is characterized by ataxia, dysarthria, nystagmus and marked cerebellar atrophy, has_material_basis_in mutation in the ANO10 gene.
http://purl.obolibrary.org/obo/DOID_0060000	infective endocarditis	http://purl.obolibrary.org/obo/DOID_1564	fungal infectious disease		An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents.
http://purl.obolibrary.org/obo/DOID_0060001	withdrawal disorder	http://purl.obolibrary.org/obo/DOID_303	substance-related disorder		A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol.
http://purl.obolibrary.org/obo/DOID_0060002	C1 inhibitor deficiency	http://purl.obolibrary.org/obo/DOID_626	complement deficiency		A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue.
http://purl.obolibrary.org/obo/DOID_0060004	autoimmune disease of central nervous system	http://purl.obolibrary.org/obo/DOID_438	autoimmune disease of the nervous system		An autoimmune hypersensitivity disease located_in the central nervous system.
http://purl.obolibrary.org/obo/DOID_0060005	autoimmune disease of endocrine system	http://purl.obolibrary.org/obo/DOID_417	autoimmune disease		An autoimmune disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system.
http://purl.obolibrary.org/obo/DOID_0060007	CD3zeta deficiency	http://purl.obolibrary.org/obo/DOID_627	severe combined immunodeficiency		A severe combined immunodeficiency that affects the development and function of T cells.
http://purl.obolibrary.org/obo/DOID_0060008	janus kinase-3 deficiency	http://purl.obolibrary.org/obo/DOID_627	severe combined immunodeficiency		A severe combined immunodeficiency that is characterized by severe cell-mediated and antibody-mediated immunodeficiency with recurrent bacterial, viral, and fungal infections, develops_from janus kinase-3 deficiency, and has_material_basis_in autosomal recessive inheritance of mutation in the JAK3 gene of chromosome 19p13.11, responsible for normal differentiation and maturation of B and T immune cells.
http://purl.obolibrary.org/obo/DOID_0060009	MHC class I deficiency	http://purl.obolibrary.org/obo/DOID_627	severe combined immunodeficiency		A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy.
http://purl.obolibrary.org/obo/DOID_0060010	Omenn syndrome	http://purl.obolibrary.org/obo/DOID_627	severe combined immunodeficiency		A severe combined immunodeficiency that has_material_basis_in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly.
http://purl.obolibrary.org/obo/DOID_0060011	recombinase activating gene 1 deficiency	http://purl.obolibrary.org/obo/DOID_627	severe combined immunodeficiency		A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.
http://purl.obolibrary.org/obo/DOID_0060012	recombinase activating gene 2 deficiency	http://purl.obolibrary.org/obo/DOID_627	severe combined immunodeficiency		A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.
http://purl.obolibrary.org/obo/DOID_0060013	X-linked severe combined immunodeficiency	http://purl.obolibrary.org/obo/DOID_627	severe combined immunodeficiency		A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells.
http://purl.obolibrary.org/obo/DOID_0060014	CD45 deficiency	http://purl.obolibrary.org/obo/DOID_627	severe combined immunodeficiency		A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age.
http://purl.obolibrary.org/obo/DOID_0060016	CD3delta deficiency	http://purl.obolibrary.org/obo/DOID_627	severe combined immunodeficiency		A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development.
http://purl.obolibrary.org/obo/DOID_0060017	CD3epsilon deficiency	http://purl.obolibrary.org/obo/DOID_627	severe combined immunodeficiency		A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex.
http://purl.obolibrary.org/obo/DOID_0060018	CD3gamma deficiency	http://purl.obolibrary.org/obo/DOID_627	severe combined immunodeficiency		A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected.
http://purl.obolibrary.org/obo/DOID_0060019	coronin-1A deficiency	http://purl.obolibrary.org/obo/DOID_627	severe combined immunodeficiency		A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs.
http://purl.obolibrary.org/obo/DOID_0060020	reticular dysgenesis	http://purl.obolibrary.org/obo/DOID_627	severe combined immunodeficiency		A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions.
http://purl.obolibrary.org/obo/DOID_0060021	DNA ligase IV deficiency	http://purl.obolibrary.org/obo/DOID_628	combined T cell and B cell immunodeficiency		A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay.
http://purl.obolibrary.org/obo/DOID_0060022	CD40 ligand deficiency	http://purl.obolibrary.org/obo/DOID_628	combined T cell and B cell immunodeficiency		A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE.
http://purl.obolibrary.org/obo/DOID_0060023	immunodeficiency with hyper IgM type 3	http://purl.obolibrary.org/obo/DOID_0080544	hyper IgM syndrome		A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation.
http://purl.obolibrary.org/obo/DOID_0060024	lambda 5 deficiency	http://purl.obolibrary.org/obo/DOID_2115	B cell deficiency		A B cell deficiency that has_material_basis_in mutations in the IGLL1 gene. Lambda 5 mutations can cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage.
http://purl.obolibrary.org/obo/DOID_0060025	immunoglobulin alpha deficiency	http://purl.obolibrary.org/obo/DOID_2115	B cell deficiency		A B cell deficiency that is an autosomal recessive disorder that has_material_basis_in mutation in the IgA (CD79 alpha) antigen receptor.
http://purl.obolibrary.org/obo/DOID_0060026	immunoglobulin beta deficiency	http://purl.obolibrary.org/obo/DOID_2115	B cell deficiency		A B cell deficiency that is characterized by mucosal infections and autoimmune diseases due to lack of production of immunoglobulin A antibody, and has_material_basis_in autosomal recessive inheritance.
http://purl.obolibrary.org/obo/DOID_0060027	agammaglobulinemia 4	http://purl.obolibrary.org/obo/DOID_2583	agammaglobulinemia		An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2.
http://purl.obolibrary.org/obo/DOID_0060028	Good syndrome	http://purl.obolibrary.org/obo/DOID_628	combined T cell and B cell immunodeficiency		A combined T cell and B cell immunodeficiency that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma.
http://purl.obolibrary.org/obo/DOID_0060029	autoimmune disease of exocrine system	http://purl.obolibrary.org/obo/DOID_417	autoimmune disease		An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system.
http://purl.obolibrary.org/obo/DOID_0060030	autoimmune disease of eyes, ear, nose and throat	http://purl.obolibrary.org/obo/DOID_438	autoimmune disease of the nervous system		An autoimmune disease located_in eyes, located_in ears, located_in nose and located_in throat.
http://purl.obolibrary.org/obo/DOID_0060031	autoimmune disease of gastrointestinal tract	http://purl.obolibrary.org/obo/DOID_77	gastrointestinal system disease		An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract.
http://purl.obolibrary.org/obo/DOID_0060032	autoimmune disease of musculoskeletal system	http://purl.obolibrary.org/obo/DOID_417	autoimmune disease		An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system.
http://purl.obolibrary.org/obo/DOID_0060033	autoimmune disease of peripheral nervous system	http://purl.obolibrary.org/obo/DOID_574	peripheral nervous system disease		An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system.
http://purl.obolibrary.org/obo/DOID_0060036	intrinsic cardiomyopathy	http://purl.obolibrary.org/obo/DOID_0050700	cardiomyopathy		A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause.
http://purl.obolibrary.org/obo/DOID_0060037	developmental disorder of mental health	http://purl.obolibrary.org/obo/DOID_150	disease of mental health		A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.
http://purl.obolibrary.org/obo/DOID_0060038	specific developmental disorder	http://purl.obolibrary.org/obo/DOID_0060037	developmental disorder of mental health		A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.
http://purl.obolibrary.org/obo/DOID_0060039	autoimmune disease of skin and connective tissue	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue.
http://purl.obolibrary.org/obo/DOID_0060040	pervasive developmental disorder	http://purl.obolibrary.org/obo/DOID_0060037	developmental disorder of mental health		A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors.
http://purl.obolibrary.org/obo/DOID_0060041	autism spectrum disorder	http://purl.obolibrary.org/obo/DOID_0060040	pervasive developmental disorder		A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.
http://purl.obolibrary.org/obo/DOID_0060042	atypical autism	http://purl.obolibrary.org/obo/DOID_0060041	autism spectrum disorder		An autism spectrum disorder that involves some autistic symptoms occurring after age 3 with an absence of all the traits necessary for a diagnosis of autism.
http://purl.obolibrary.org/obo/DOID_0060043	sexual health disorder	http://purl.obolibrary.org/obo/DOID_150	disease of mental health		A disease of mental health that involves the impairment in normal sexual functioning.
http://purl.obolibrary.org/obo/DOID_0060044	paraphilia disorder	http://purl.obolibrary.org/obo/DOID_0060043	sexual health disorder		A sexual disorder that is characterized recurrent, intense sexually arousing fantasies, sexual urges or behaviors generally involving nonhuman objects.
http://purl.obolibrary.org/obo/DOID_0060045	Munchausen by proxy	http://purl.obolibrary.org/obo/DOID_1766	factitious disorder		A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others.
http://purl.obolibrary.org/obo/DOID_0060046	aphasia	http://purl.obolibrary.org/obo/DOID_93	language disorder		A language disorder that involves an acquired impairment of any language modality such as producing or comprehending spoken or written language.
http://purl.obolibrary.org/obo/DOID_0060047	writing disorder	http://purl.obolibrary.org/obo/DOID_8927	learning disability		A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition.
http://purl.obolibrary.org/obo/DOID_0060048	nosophobia	http://purl.obolibrary.org/obo/DOID_599	specific phobia		A specific phobia that involves an irrational fear of contracting a disease.
http://purl.obolibrary.org/obo/DOID_0060049	autoimmune disease of urogenital tract	http://purl.obolibrary.org/obo/DOID_417	autoimmune disease		An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract.
http://purl.obolibrary.org/obo/DOID_0060050	autoimmune disease of blood	http://purl.obolibrary.org/obo/DOID_417	autoimmune disease		An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood.
http://purl.obolibrary.org/obo/DOID_0060051	autoimmune disease of cardiovascular system	http://purl.obolibrary.org/obo/DOID_417	autoimmune disease		An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system.
http://purl.obolibrary.org/obo/DOID_0060054	autonomic peripheral neuropathy	http://purl.obolibrary.org/obo/DOID_870	neuropathy		A neuropathy that affects the autonomic nervous system and is characterized by urinary incontinence, gastrointestinal dysmotility, orthostatic hypotension, apneas, sweat disturbances and impotence.
http://purl.obolibrary.org/obo/DOID_0060055	popliteal pterygium syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1.
http://purl.obolibrary.org/obo/DOID_0060056	hypersensitivity reaction disease	http://purl.obolibrary.org/obo/DOID_2914	immune system disease		An immune system disease that has_material_basis_in abnormal immune responses.
http://purl.obolibrary.org/obo/DOID_0060057	gluten allergy	http://purl.obolibrary.org/obo/DOID_3044	food allergy		A food allergy that develops from an immune reaction to eating gluten, a protein found in wheat, barley, rye and triticale and that is characterized by stomach cramping, diarrhea and gastrointestinal upset and is unrelated to the gluten intolerance.
http://purl.obolibrary.org/obo/DOID_0060058	lymphoma	http://purl.obolibrary.org/obo/DOID_2531	hematologic cancer		A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.
http://purl.obolibrary.org/obo/DOID_0060060	non-Hodgkin lymphoma	http://purl.obolibrary.org/obo/DOID_0060058	lymphoma		A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.
http://purl.obolibrary.org/obo/DOID_0060061	primary cutaneous T-cell non-Hodgkin lymphoma	http://purl.obolibrary.org/obo/DOID_0050749	peripheral T-cell lymphoma		A peripheral T-cell lymphoma that has_material_basis_in a mutation of T cells.
http://purl.obolibrary.org/obo/DOID_0060062	autosomal dominant tubulointerstitial kidney disease	http://purl.obolibrary.org/obo/DOID_557	kidney disease		A kidney disease that is characterized by normal urinalysis and slowly progressive chronic kidney disease, usually first noted in the teen years and progressing to end-stage renal disease between the third and seventh decades.
http://purl.obolibrary.org/obo/DOID_0060063	sideroblastic anemia 1	http://purl.obolibrary.org/obo/DOID_8955	sideroblastic anemia		A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production.
http://purl.obolibrary.org/obo/DOID_0060065	autosomal recessive pyridoxine-refractory sideroblastic anemia 2	http://purl.obolibrary.org/obo/DOID_8955	sideroblastic anemia		A sideroblastic anemia that is characterized by microcytic hypochromic anemia and iron overload, and has_material_basis_in autosomal recessive inheritance of mutation in the SLC25A38 gene.
http://purl.obolibrary.org/obo/DOID_0060066	pyridoxine-responsive sideroblastic anemia	http://purl.obolibrary.org/obo/DOID_8955	sideroblastic anemia		A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance.
http://purl.obolibrary.org/obo/DOID_0060067	Pearson syndrome	http://purl.obolibrary.org/obo/DOID_700	mitochondrial metabolism disease		A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction.
http://purl.obolibrary.org/obo/DOID_0060068	nonbacterial thrombotic endocarditis	http://purl.obolibrary.org/obo/DOID_10314	endocarditis		An endocarditis that results from the deposition of small sterile vegetations on valve leaflets.
http://purl.obolibrary.org/obo/DOID_0060071	pre-malignant neoplasm	http://purl.obolibrary.org/obo/DOID_14566	disease of cellular proliferation		A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.
http://purl.obolibrary.org/obo/DOID_0060072	benign neoplasm	http://purl.obolibrary.org/obo/DOID_14566	disease of cellular proliferation		A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize.
http://purl.obolibrary.org/obo/DOID_0060073	lymphatic system cancer	http://purl.obolibrary.org/obo/DOID_75	lymphatic system disease		An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue.
http://purl.obolibrary.org/obo/DOID_0060074	ductal carcinoma in situ	http://purl.obolibrary.org/obo/DOID_8791	breast carcinoma in situ		A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.
http://purl.obolibrary.org/obo/DOID_0060075	estrogen-receptor positive breast cancer	http://purl.obolibrary.org/obo/DOID_1612	breast cancer		A breast cancer that is characterized by the presence of estrogen receptors.
http://purl.obolibrary.org/obo/DOID_0060076	estrogen-receptor negative breast cancer	http://purl.obolibrary.org/obo/DOID_1612	breast cancer		A breast cancer that is characterized by the absence of estrogen receptors.
http://purl.obolibrary.org/obo/DOID_0060077	progesterone-receptor positive breast cancer	http://purl.obolibrary.org/obo/DOID_1612	breast cancer		A breast cancer that is characterized by the presence of progesterone receptors.
http://purl.obolibrary.org/obo/DOID_0060078	progesterone-receptor negative breast cancer	http://purl.obolibrary.org/obo/DOID_1612	breast cancer		A breast cancer that is characterized by the absence of progesterone receptors.
http://purl.obolibrary.org/obo/DOID_0060079	Her2-receptor positive breast cancer	http://purl.obolibrary.org/obo/DOID_1612	breast cancer		A breast cancer that is characterized by the presence of Her2 receptors.
http://purl.obolibrary.org/obo/DOID_0060080	Her2-receptor negative breast cancer	http://purl.obolibrary.org/obo/DOID_1612	breast cancer		A breast cancer that is characterized by the absence of Her2 receptors.
http://purl.obolibrary.org/obo/DOID_0060081	triple-receptor negative breast cancer	http://purl.obolibrary.org/obo/DOID_1612	breast cancer		A breast cancer that is characterized by the absence of estrogen, progresterone and Her2 receptors.
http://purl.obolibrary.org/obo/DOID_0060082	breast benign neoplasm	http://purl.obolibrary.org/obo/DOID_3463	breast disease		A thoracic benign neoplasm that is characterized by lack of malignancy.
http://purl.obolibrary.org/obo/DOID_0060083	immune system cancer	http://purl.obolibrary.org/obo/DOID_2914	immune system disease		An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system.
http://purl.obolibrary.org/obo/DOID_0060084	cell type benign neoplasm	http://purl.obolibrary.org/obo/DOID_0060072	benign neoplasm		A benign neoplasm that is classified by the type of cell or tissue from which it is derived.
http://purl.obolibrary.org/obo/DOID_0060085	organ system benign neoplasm	http://purl.obolibrary.org/obo/DOID_0060072	benign neoplasm		A benign neoplasm that is classified by the organ system from which it is arising from.
http://purl.obolibrary.org/obo/DOID_0060086	female reproductive organ benign neoplasm	http://purl.obolibrary.org/obo/DOID_229	female reproductive system disease		A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the female reproductive system.
http://purl.obolibrary.org/obo/DOID_0060087	male reproductive organ benign neoplasm	http://purl.obolibrary.org/obo/DOID_48	male reproductive system disease		A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the male reproductive system.
http://purl.obolibrary.org/obo/DOID_0060088	vestibular gland benign neoplasm	http://purl.obolibrary.org/obo/DOID_0060086	female reproductive organ benign neoplasm		A female reproductive organ benign neoplasm that is located_in the vestibular gland.
http://purl.obolibrary.org/obo/DOID_0060089	endocrine organ benign neoplasm	http://purl.obolibrary.org/obo/DOID_0060085	organ system benign neoplasm		An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body.
http://purl.obolibrary.org/obo/DOID_0060090	central nervous system benign neoplasm	http://purl.obolibrary.org/obo/DOID_331	central nervous system disease		A nervous system benign neoplasm that is characterized by lack of malignancy.
http://purl.obolibrary.org/obo/DOID_0060091	cardiovascular organ benign neoplasm	http://purl.obolibrary.org/obo/DOID_1287	cardiovascular system disease		An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system.
http://purl.obolibrary.org/obo/DOID_0060092	immune system organ benign neoplasm	http://purl.obolibrary.org/obo/DOID_0060085	organ system benign neoplasm		An organ system benign neoplasm located_in the immune system organs.
http://purl.obolibrary.org/obo/DOID_0060094	bone benign neoplasm	http://purl.obolibrary.org/obo/DOID_0080001	bone disease		A connective tissue benign neoplasm that is located_in bone.
http://purl.obolibrary.org/obo/DOID_0060095	uterine benign neoplasm	http://purl.obolibrary.org/obo/DOID_345	uterine disease		A female reproductive organ benign neoplasm that is located_in the uterus.
http://purl.obolibrary.org/obo/DOID_0060096	sensory organ benign neoplasm	http://purl.obolibrary.org/obo/DOID_0060115	nervous system benign neoplasm		A nervous system benign neoplasm that is located_in a sensory organ.
http://purl.obolibrary.org/obo/DOID_0060097	thoracic benign neoplasm	http://purl.obolibrary.org/obo/DOID_0060118	thoracic disease		An organ system benign neoplam that is located_in the thoracic cavity.
http://purl.obolibrary.org/obo/DOID_0060098	osteoblastoma	http://purl.obolibrary.org/obo/DOID_0060094	bone benign neoplasm		A bone benign neoplasm of the bone that is characterized by clinical and histological similarity to osteoid osteomas.
http://purl.obolibrary.org/obo/DOID_0060099	musculoskeletal system benign neoplasm	http://purl.obolibrary.org/obo/DOID_17	musculoskeletal system disease		An organ system benign neoplasm that is located_in the muscular and skeletal organs.
http://purl.obolibrary.org/obo/DOID_0060100	musculoskeletal system cancer	http://purl.obolibrary.org/obo/DOID_17	musculoskeletal system disease		An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs.
http://purl.obolibrary.org/obo/DOID_0060102	cartilage cancer	http://purl.obolibrary.org/obo/DOID_201	connective tissue cancer		A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma.
http://purl.obolibrary.org/obo/DOID_0060103	central nervous system embryonal tumor	http://purl.obolibrary.org/obo/DOID_368	cerebrum cancer		A central nervous system cancer of children and young adults that develops from neural crest cells located_in cerebrum, has_material_basis_in abnormally proliferating cells derives_from neuroectoderm.
http://purl.obolibrary.org/obo/DOID_0060104	cerebellar medulloblastoma	http://purl.obolibrary.org/obo/DOID_4205	cerebellum cancer		A cerebellum cancer that begins in the lower part of the brain on the floor of the skull.
http://purl.obolibrary.org/obo/DOID_0060106	brain meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		A brain cancer that is characterized by tumor of the meninges, that develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin.
http://purl.obolibrary.org/obo/DOID_0060108	brain glioma	http://purl.obolibrary.org/obo/DOID_1319	brain cancer		A brain cancer that has_material_basis_in glial cells.
http://purl.obolibrary.org/obo/DOID_0060109	vulvar benign neoplasm	http://purl.obolibrary.org/obo/DOID_2059	vulvar disease		A female reproductive organ benign neoplasm that is located_in the vulva.
http://purl.obolibrary.org/obo/DOID_0060110	cervical benign neoplasm	http://purl.obolibrary.org/obo/DOID_2253	cervix disease		A female reproductive organ benign neoplasm that is located_in the cervix.
http://purl.obolibrary.org/obo/DOID_0060111	fallopian tube benign neoplasm	http://purl.obolibrary.org/obo/DOID_1962	fallopian tube disease		A female reproductive organ benign neoplasm that is located_in the fallopian tube.
http://purl.obolibrary.org/obo/DOID_0060112	ovarian benign neoplasm	http://purl.obolibrary.org/obo/DOID_1100	ovarian disease		A female reproductive organ benign neoplasm that is located_in the ovary.
http://purl.obolibrary.org/obo/DOID_0060114	vaginal benign neoplasm	http://purl.obolibrary.org/obo/DOID_121	vaginal disease		A female reproductive organ benign neoplasm that is located_in the vagina.
http://purl.obolibrary.org/obo/DOID_0060115	nervous system benign neoplasm	http://purl.obolibrary.org/obo/DOID_863	nervous system disease		An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system.
http://purl.obolibrary.org/obo/DOID_0060116	sensory system cancer	http://purl.obolibrary.org/obo/DOID_3093	nervous system cancer		A nervous system cancer that is located in the sensory system.
http://purl.obolibrary.org/obo/DOID_0060117	peritoneal benign neoplasm	http://purl.obolibrary.org/obo/DOID_0060097	thoracic benign neoplasm		A thoracic benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom.
http://purl.obolibrary.org/obo/DOID_0060118	thoracic disease	http://purl.obolibrary.org/obo/DOID_7	disease of anatomical entity		A disease of anatomical entity that is located_in the thoracic cavity.
http://purl.obolibrary.org/obo/DOID_0060119	pharynx cancer	http://purl.obolibrary.org/obo/DOID_3119	gastrointestinal system cancer		A gastrointestinal system cancer that is located_in the pharynx.
http://purl.obolibrary.org/obo/DOID_0060121	integumentary system benign neoplasm	http://purl.obolibrary.org/obo/DOID_16	integumentary system disease		An organ system benign neoplasm located_in the integumentary system organs.
http://purl.obolibrary.org/obo/DOID_0060122	integumentary system cancer	http://purl.obolibrary.org/obo/DOID_16	integumentary system disease		An organ system cancer that is located_in the skin, hair and nails.
http://purl.obolibrary.org/obo/DOID_0060123	connective tissue benign neoplasm	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A musculoskeletal system benign neoplasm that is located_in connective tissue.
http://purl.obolibrary.org/obo/DOID_0060125	heavy chain disease	http://purl.obolibrary.org/obo/DOID_2916	hypersensitivity reaction type IV disease		A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains.
http://purl.obolibrary.org/obo/DOID_0060126	alpha chain disease	http://purl.obolibrary.org/obo/DOID_0060125	heavy chain disease		A heavy chain disease that results from an overproduction of alpha antibodies (IgA).
http://purl.obolibrary.org/obo/DOID_0060127	gamma heavy chain disease	http://purl.obolibrary.org/obo/DOID_0060125	heavy chain disease		A heavy chain disease that results from an overproduction of gamma antibody (IgG).
http://purl.obolibrary.org/obo/DOID_0060128	mu chain disease	http://purl.obolibrary.org/obo/DOID_0060125	heavy chain disease		A heavy chain disease that results from an overproduction of mu antibody (IgM).
http://purl.obolibrary.org/obo/DOID_0060129	delta chain disease	http://purl.obolibrary.org/obo/DOID_0060125	heavy chain disease		A heavy chain disease that results from an overproduction of delta antibody (IgD).
http://purl.obolibrary.org/obo/DOID_0060130	akinetopsia	http://purl.obolibrary.org/obo/DOID_4090	agnosia		An agnosia that is a loss of motion perception.
http://purl.obolibrary.org/obo/DOID_0060131	alexithymia	http://purl.obolibrary.org/obo/DOID_4090	agnosia		An agnosia that is a deficiency in understanding, processing, or describing emotions.
http://purl.obolibrary.org/obo/DOID_0060132	amusia	http://purl.obolibrary.org/obo/DOID_4090	agnosia		An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals.
http://purl.obolibrary.org/obo/DOID_0060133	anosognosia	http://purl.obolibrary.org/obo/DOID_4090	agnosia		An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments.
http://purl.obolibrary.org/obo/DOID_0060134	apperceptive agnosia	http://purl.obolibrary.org/obo/DOID_4090	agnosia		An agnosia that is a loss of the ability to distinguish visual shapes.
http://purl.obolibrary.org/obo/DOID_0060135	apraxia	http://purl.obolibrary.org/obo/DOID_4090	agnosia		An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities.
http://purl.obolibrary.org/obo/DOID_0060136	associative agnosia	http://purl.obolibrary.org/obo/DOID_4090	agnosia		An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the ability to describe them.
http://purl.obolibrary.org/obo/DOID_0060137	auditory agnosia	http://purl.obolibrary.org/obo/DOID_4090	agnosia		An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal.
http://purl.obolibrary.org/obo/DOID_0060138	autotopagnosia	http://purl.obolibrary.org/obo/DOID_4090	agnosia		An agnosia that is a loss of the ability to orient parts of the body.
http://purl.obolibrary.org/obo/DOID_0060139	color agnosia	http://purl.obolibrary.org/obo/DOID_4090	agnosia		An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it.
http://purl.obolibrary.org/obo/DOID_0060140	cortical deafness	http://purl.obolibrary.org/obo/DOID_4090	agnosia		An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.
http://purl.obolibrary.org/obo/DOID_0060141	finger agnosia	http://purl.obolibrary.org/obo/DOID_4090	agnosia		An agnosia that is a loss of the ability to distinguish the fingers on the hand.
http://purl.obolibrary.org/obo/DOID_0060142	form agnosia	http://purl.obolibrary.org/obo/DOID_4090	agnosia		An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details.
http://purl.obolibrary.org/obo/DOID_0060143	integrative agnosia	http://purl.obolibrary.org/obo/DOID_4090	agnosia		An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole.
http://purl.obolibrary.org/obo/DOID_0060144	mirror agnosia	http://purl.obolibrary.org/obo/DOID_4090	agnosia		An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field.
http://purl.obolibrary.org/obo/DOID_0060145	pain agnosia	http://purl.obolibrary.org/obo/DOID_4090	agnosia		An agnosia that is a loss of the ability to perceive and process pain.
http://purl.obolibrary.org/obo/DOID_0060146	phonagnosia	http://purl.obolibrary.org/obo/DOID_4090	agnosia		An agnosia that is a loss of the ability to recognize familiar voices.
http://purl.obolibrary.org/obo/DOID_0060147	semantic agnosia	http://purl.obolibrary.org/obo/DOID_4090	agnosia		An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object.
http://purl.obolibrary.org/obo/DOID_0060148	simultanagnosia	http://purl.obolibrary.org/obo/DOID_4090	agnosia		An agnosia that is a loss of the ability to recognize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time.
http://purl.obolibrary.org/obo/DOID_0060149	social emotional agnosia	http://purl.obolibrary.org/obo/DOID_4090	agnosia		An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction.
http://purl.obolibrary.org/obo/DOID_0060150	astereognosia	http://purl.obolibrary.org/obo/DOID_4090	agnosia		An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight.
http://purl.obolibrary.org/obo/DOID_0060151	tactile agnosia	http://purl.obolibrary.org/obo/DOID_4090	agnosia		An agnosia that is a loss of the ability to recognize or identify objects by touch alone.
http://purl.obolibrary.org/obo/DOID_0060152	time agnosia	http://purl.obolibrary.org/obo/DOID_4090	agnosia		An agnosia that is a loss of the ability to comprehend the succession and duration of events.
http://purl.obolibrary.org/obo/DOID_0060153	topographical agnosia	http://purl.obolibrary.org/obo/DOID_0060155	visual agnosia		An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects.
http://purl.obolibrary.org/obo/DOID_0060154	verbal auditory agnosia	http://purl.obolibrary.org/obo/DOID_4090	agnosia		An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful.
http://purl.obolibrary.org/obo/DOID_0060155	visual agnosia	http://purl.obolibrary.org/obo/DOID_4090	agnosia		An agnosia that is a loss of the ability to visually recognize objects.
http://purl.obolibrary.org/obo/DOID_0060156	visual verbal agnosia	http://purl.obolibrary.org/obo/DOID_0060155	visual agnosia		An agnosia that is a loss of the ability to comprehending the meaning of written words.
http://purl.obolibrary.org/obo/DOID_0060157	diffuse alopecia areata	http://purl.obolibrary.org/obo/DOID_986	alopecia areata		An alopecia areata that involves diffuse loss of hair over the whole scalp.
http://purl.obolibrary.org/obo/DOID_0060158	acquired metabolic disease	http://purl.obolibrary.org/obo/DOID_0014667	disease of metabolism		A disease of metabolism that has_material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption.
http://purl.obolibrary.org/obo/DOID_0060159	organic acidemia	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids.
http://purl.obolibrary.org/obo/DOID_0060160	childhood spinal muscular atrophy	http://purl.obolibrary.org/obo/DOID_12377	spinal muscular atrophy		A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood and that has_material_basis_in variation in the SMN gene.
http://purl.obolibrary.org/obo/DOID_0060161	Kennedy's disease	http://purl.obolibrary.org/obo/DOID_12377	spinal muscular atrophy		A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor.
http://purl.obolibrary.org/obo/DOID_0060162	dentatorubral-pallidoluysian atrophy	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein.
http://purl.obolibrary.org/obo/DOID_0060163	body dysmorphic disorder	http://purl.obolibrary.org/obo/DOID_4737	somatoform disorder		A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image).
http://purl.obolibrary.org/obo/DOID_0060164	pain disorder	http://purl.obolibrary.org/obo/DOID_4737	somatoform disorder		A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress.
http://purl.obolibrary.org/obo/DOID_0060165	Kleine-Levin syndrome	http://purl.obolibrary.org/obo/DOID_8619	recurrent hypersomnia		A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior.
http://purl.obolibrary.org/obo/DOID_0060166	bipolar ll disorder	http://purl.obolibrary.org/obo/DOID_3312	bipolar disorder		A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes.
http://purl.obolibrary.org/obo/DOID_0060167	seasonal affective disorder	http://purl.obolibrary.org/obo/DOID_1596	depressive disorder		A mental depression that involves presentation of depressive symptoms only during a specific season of the year.
http://purl.obolibrary.org/obo/DOID_0060168	histidinemia	http://purl.obolibrary.org/obo/DOID_9265	histidine metabolism disease		A histidine metabolism disease characterized by a deficiency of the enzyme histidase.
http://purl.obolibrary.org/obo/DOID_0060169	benign familial infantile epilepsy	http://purl.obolibrary.org/obo/DOID_0050703	infancy electroclinical syndrome		An infancy electroclinical syndrome that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae.
http://purl.obolibrary.org/obo/DOID_0060170	generalized epilepsy with febrile seizures plus	http://purl.obolibrary.org/obo/DOID_1827	generalized epilepsy		An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset.
http://purl.obolibrary.org/obo/DOID_0060172	juvenile absence epilepsy	http://purl.obolibrary.org/obo/DOID_0050705	adolescence-adult electroclinical syndrome		An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures.
http://purl.obolibrary.org/obo/DOID_0060173	Timothy syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by cardiac, hand/foot, facial, and neurodevelopmental features that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of the CACNA1C gene.
http://purl.obolibrary.org/obo/DOID_0060174	GABA aminotransferase deficiency	http://purl.obolibrary.org/obo/DOID_0060176	gamma-amino butyric acid metabolism disorder		A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde.
http://purl.obolibrary.org/obo/DOID_0060175	succinic semialdehyde dehydrogenase deficiency	http://purl.obolibrary.org/obo/DOID_0060176	gamma-amino butyric acid metabolism disorder		A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid.
http://purl.obolibrary.org/obo/DOID_0060176	gamma-amino butyric acid metabolism disorder	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.
http://purl.obolibrary.org/obo/DOID_0060177	homocarnosinosis	http://purl.obolibrary.org/obo/DOID_936	brain disease		A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine.
http://purl.obolibrary.org/obo/DOID_0060178	familial hemiplegic migraine	http://purl.obolibrary.org/obo/DOID_10024	migraine with aura		A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness.
http://purl.obolibrary.org/obo/DOID_0060179	Renpenning syndrome	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males.
http://purl.obolibrary.org/obo/DOID_0060180	colitis	http://purl.obolibrary.org/obo/DOID_5353	colonic disease		An inflammatory bowel disease that involves inflammation located_in colon.
http://purl.obolibrary.org/obo/DOID_0060181	ischemic colitis	http://purl.obolibrary.org/obo/DOID_0060180	colitis		A colitis caused_by inadequate blood supply to the colon.
http://purl.obolibrary.org/obo/DOID_0060182	microscopic colitis	http://purl.obolibrary.org/obo/DOID_0060180	colitis		A colitis that can only be diagnosed_by the examination of colon tissue under a microscope.
http://purl.obolibrary.org/obo/DOID_0060183	collagenous colitis	http://purl.obolibrary.org/obo/DOID_0060182	microscopic colitis		A colitis characterized by a distinctive thickening of the subepithelial collagen table.
http://purl.obolibrary.org/obo/DOID_0060184	lymphocytic colitis	http://purl.obolibrary.org/obo/DOID_0060182	microscopic colitis		A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria).
http://purl.obolibrary.org/obo/DOID_0060185	Clostridium difficile colitis	http://purl.obolibrary.org/obo/DOID_0060180	colitis		A colitis characterized by an overgrowth of Clostridium difficile bacteria.
http://purl.obolibrary.org/obo/DOID_0060186	chemical colitis	http://purl.obolibrary.org/obo/DOID_0060180	colitis		A colitis caused_by introduction of various chemicals.
http://purl.obolibrary.org/obo/DOID_0060187	diversion colitis	http://purl.obolibrary.org/obo/DOID_0060180	colitis		A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy.
http://purl.obolibrary.org/obo/DOID_0060188	jejunoileitis	http://purl.obolibrary.org/obo/DOID_8778	Crohn's disease		An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas.
http://purl.obolibrary.org/obo/DOID_0060189	ileitis	http://purl.obolibrary.org/obo/DOID_8778	Crohn's disease		An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss.
http://purl.obolibrary.org/obo/DOID_0060190	ileocolitis	http://purl.obolibrary.org/obo/DOID_8778	Crohn's disease		An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part. The most common type of Crohn's disease.
http://purl.obolibrary.org/obo/DOID_0060191	gastroduodenal Crohn's disease	http://purl.obolibrary.org/obo/DOID_8778	Crohn's disease		An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite.
http://purl.obolibrary.org/obo/DOID_0060192	Crohn's colitis	http://purl.obolibrary.org/obo/DOID_8778	Crohn's disease		An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus.
http://purl.obolibrary.org/obo/DOID_0060193	amyotrophic lateral sclerosis type 1	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. The most common type of familial ALS.
http://purl.obolibrary.org/obo/DOID_0060194	amyotrophic lateral sclerosis type 2	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that has_material_basis_in mutation in the alsin gene on chromosome 2.
http://purl.obolibrary.org/obo/DOID_0060195	amyotrophic lateral sclerosis type 3	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 18.
http://purl.obolibrary.org/obo/DOID_0060196	amyotrophic lateral sclerosis type 4	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the SETX gene on chromosome 9.
http://purl.obolibrary.org/obo/DOID_0060197	amyotrophic lateral sclerosis type 5	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21.
http://purl.obolibrary.org/obo/DOID_0060198	amyotrophic lateral sclerosis type 6	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FUS gene on chromosome 16.
http://purl.obolibrary.org/obo/DOID_0060199	amyotrophic lateral sclerosis type 7	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that has_material_basis_in mutation in SOD1 gene on chromosome 20.
http://purl.obolibrary.org/obo/DOID_0060200	amyotrophic lateral sclerosis type 9	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ANG gene on chromosome 14.
http://purl.obolibrary.org/obo/DOID_0060201	amyotrophic lateral sclerosis type 10	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1.
http://purl.obolibrary.org/obo/DOID_0060202	amyotrophic lateral sclerosis type 11	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FIG4 gene on chromosome 6.
http://purl.obolibrary.org/obo/DOID_0060203	amyotrophic lateral sclerosis type 12	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that has_material_basis_in mutation in the OPTN gene on chromosome 10.
http://purl.obolibrary.org/obo/DOID_0060204	amyotrophic lateral sclerosis type 13	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis where a mutation that has_material_basis_in the ATXN2 gene on chromosome 12 contributes to suscepitbility.
http://purl.obolibrary.org/obo/DOID_0060205	frontotemporal dementia and/or amyotrophic lateral sclerosis 6	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VCP gene on chromosome 9p13.
http://purl.obolibrary.org/obo/DOID_0060206	amyotrophic lateral sclerosis type 15	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that has_material_basis_in mutation in the UBQLN2 gene on chromosome X.
http://purl.obolibrary.org/obo/DOID_0060207	amyotrophic lateral sclerosis type 16	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SIGMAR1 gene (SETX) on chromosome 9.
http://purl.obolibrary.org/obo/DOID_0060209	amyotrophic lateral sclerosis type 18	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that has_material_basis_in mutation in the PFN1 gene on chromosome 17.
http://purl.obolibrary.org/obo/DOID_0060210	amyotrophic lateral sclerosis type 19	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ERBB4 gene on chromosome 2.
http://purl.obolibrary.org/obo/DOID_0060211	amyotrophic lateral sclerosis type 20	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the HNRNPA1 gene on chromosome 12.
http://purl.obolibrary.org/obo/DOID_0060212	amyotrophic lateral sclerosis type 21	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that has_material_basis_in mutation in the MATR3 gene on chromosome 5.
http://purl.obolibrary.org/obo/DOID_0060213	C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that has_material_basis_in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.
http://purl.obolibrary.org/obo/DOID_0060214	frontotemporal dementia and/or amyotrophic lateral sclerosis 2	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.
http://purl.obolibrary.org/obo/DOID_0060215	Balo concentric sclerosis	http://purl.obolibrary.org/obo/DOID_2377	multiple sclerosis		A multiple sclerosis that is characterized by concentric layers of demyelinated tissues, tumor-like lesions larger than two centimeters and symptoms similar to those of a brain tumor.
http://purl.obolibrary.org/obo/DOID_0060216	Cogan syndrome	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue.
http://purl.obolibrary.org/obo/DOID_0060217	Cogan-Reese syndrome	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma.
http://purl.obolibrary.org/obo/DOID_0060218	CREST syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia.
http://purl.obolibrary.org/obo/DOID_0060219	lymph node adenoid cystic carcinoma	http://purl.obolibrary.org/obo/DOID_0080618	lymph node carcinoma		A lymph node carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes.
http://purl.obolibrary.org/obo/DOID_0060220	physical urticaria	http://purl.obolibrary.org/obo/DOID_1555	urticaria		An urticaria induced by external physical influences.
http://purl.obolibrary.org/obo/DOID_0060221	Maffucci syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas.
http://purl.obolibrary.org/obo/DOID_0060222	Scheie syndrome	http://purl.obolibrary.org/obo/DOID_12802	mucopolysaccharidosis I		A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan.
http://purl.obolibrary.org/obo/DOID_0060223	agraphia	http://purl.obolibrary.org/obo/DOID_0060047	writing disorder		An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell.
http://purl.obolibrary.org/obo/DOID_0060224	atrial fibrillation	http://purl.obolibrary.org/obo/DOID_10273	heart conduction disease		A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.
http://purl.obolibrary.org/obo/DOID_0060225	3MC syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes.
http://purl.obolibrary.org/obo/DOID_0060226	acrofrontofacionasal dysostosis	http://purl.obolibrary.org/obo/DOID_1934	dysostosis		A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure.
http://purl.obolibrary.org/obo/DOID_0060227	Adams-Oliver syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs.
http://purl.obolibrary.org/obo/DOID_0060228	intracranial berry aneurysm	http://purl.obolibrary.org/obo/DOID_10941	intracranial aneurysm		An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm.
http://purl.obolibrary.org/obo/DOID_0060229	Baraitser-Winter syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present.
http://purl.obolibrary.org/obo/DOID_0060230	basal ganglia calcification	http://purl.obolibrary.org/obo/DOID_679	basal ganglia disease		A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills.
http://purl.obolibrary.org/obo/DOID_0060231	Bruck syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta.
http://purl.obolibrary.org/obo/DOID_0060232	branchiootic syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome.
http://purl.obolibrary.org/obo/DOID_0060233	cardiofaciocutaneous syndrome	http://purl.obolibrary.org/obo/DOID_0080690	RASopathy		A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes.
http://purl.obolibrary.org/obo/DOID_0060234	Carpenter syndrome	http://purl.obolibrary.org/obo/DOID_12960	acrocephalosyndactylia		An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly.
http://purl.obolibrary.org/obo/DOID_0060235	carnitine palmitoyltransferase II deficiency	http://purl.obolibrary.org/obo/DOID_3146	lipid metabolism disorder		A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria.
http://purl.obolibrary.org/obo/DOID_0060236	xanthinuria	http://purl.obolibrary.org/obo/DOID_653	purine-pyrimidine metabolic disorder		A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones.
http://purl.obolibrary.org/obo/DOID_0060237	Warburg micro syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism.
http://purl.obolibrary.org/obo/DOID_0060238	Van Maldergem syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation.
http://purl.obolibrary.org/obo/DOID_0060239	Van der Woude syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone.
http://purl.obolibrary.org/obo/DOID_0060240	UV-sensitive syndrome	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease characterized by photosensitivity and liver spots (solar lentigines).
http://purl.obolibrary.org/obo/DOID_0060241	3-M syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities.
http://purl.obolibrary.org/obo/DOID_0060242	synpolydactyly	http://purl.obolibrary.org/obo/DOID_11193	syndactyly		A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOXD13 gene.
http://purl.obolibrary.org/obo/DOID_0060243	stuttering	http://purl.obolibrary.org/obo/DOID_4186	articulation disorder		An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech.
http://purl.obolibrary.org/obo/DOID_0060244	specific language impairment	http://purl.obolibrary.org/obo/DOID_93	language disorder		A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors.
http://purl.obolibrary.org/obo/DOID_0060245	Mast syndrome	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia associated with dementia.
http://purl.obolibrary.org/obo/DOID_0060246	MASA syndrome	http://purl.obolibrary.org/obo/DOID_936	brain disease		A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range.
http://purl.obolibrary.org/obo/DOID_0060247	Smith-McCort dysplasia	http://purl.obolibrary.org/obo/DOID_0111167	Dyggve-Melchior-Clausen disease		A Dyggve-Melchior-Clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest.
http://purl.obolibrary.org/obo/DOID_0060248	Simpson-Golabi-Behmel syndrome type 1	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26.
http://purl.obolibrary.org/obo/DOID_0060249	scoliosis	http://purl.obolibrary.org/obo/DOID_0080010	bone structure disease		A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.
http://purl.obolibrary.org/obo/DOID_0060250	idiopathic scoliosis	http://purl.obolibrary.org/obo/DOID_0060249	scoliosis		A scoliosis with no known cause.
http://purl.obolibrary.org/obo/DOID_0060251	sclerosteosis	http://purl.obolibrary.org/obo/DOID_205	hyperostosis		A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life.
http://purl.obolibrary.org/obo/DOID_0060252	sclerocornea	http://purl.obolibrary.org/obo/DOID_10124	corneal disease		A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea.
http://purl.obolibrary.org/obo/DOID_0060253	scapuloperoneal myopathy	http://purl.obolibrary.org/obo/DOID_9884	muscular dystrophy		A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.
http://purl.obolibrary.org/obo/DOID_0060254	Robinow syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities.
http://purl.obolibrary.org/obo/DOID_0060255	rippling muscle disease 2	http://purl.obolibrary.org/obo/DOID_66	muscle tissue disease		A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25.
http://purl.obolibrary.org/obo/DOID_0060256	Dowling-Degos disease	http://purl.obolibrary.org/obo/DOID_10123	pigmentation disease		A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.
http://purl.obolibrary.org/obo/DOID_0060257	dyschromatosis symmetrica hereditaria	http://purl.obolibrary.org/obo/DOID_10123	pigmentation disease		A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities.
http://purl.obolibrary.org/obo/DOID_0060258	reticulate acropigmentation of Kitamura	http://purl.obolibrary.org/obo/DOID_10123	pigmentation disease		A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.
http://purl.obolibrary.org/obo/DOID_0060259	renal-hepatic-pancreatic dysplasia	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth.
http://purl.obolibrary.org/obo/DOID_0060260	ptosis	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye disease characterized by the drooping or falling of the upper or lower eyelid.
http://purl.obolibrary.org/obo/DOID_0060261	congenital ptosis	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		A ptosis characterized by superior eyelid drop present at birth.
http://purl.obolibrary.org/obo/DOID_0060262	gallbladder disease	http://purl.obolibrary.org/obo/DOID_77	gastrointestinal system disease		A gastrointestinal system disease that is located_in the gallbladder.
http://purl.obolibrary.org/obo/DOID_0060263	porencephaly	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease that is characterized by encephalomalacia and cystic brain lesions.
http://purl.obolibrary.org/obo/DOID_0060264	pontocerebellar hypoplasia	http://purl.obolibrary.org/obo/DOID_1289	neurodegenerative disease		A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum.
http://purl.obolibrary.org/obo/DOID_0060265	pontocerebellar hypoplasia type 1A	http://purl.obolibrary.org/obo/DOID_0112322	pontocerebellar hypoplasia type 1		A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene.
http://purl.obolibrary.org/obo/DOID_0060266	pontocerebellar hypoplasia type 1B	http://purl.obolibrary.org/obo/DOID_0112322	pontocerebellar hypoplasia type 1		A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene.
http://purl.obolibrary.org/obo/DOID_0060267	pontocerebellar hypoplasia type 2A	http://purl.obolibrary.org/obo/DOID_0112328	pontocerebellar hypoplasia type 2		A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.
http://purl.obolibrary.org/obo/DOID_0060268	pontocerebellar hypoplasia type 2B	http://purl.obolibrary.org/obo/DOID_0112328	pontocerebellar hypoplasia type 2		A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene.
http://purl.obolibrary.org/obo/DOID_0060269	pontocerebellar hypoplasia type 2C	http://purl.obolibrary.org/obo/DOID_0112328	pontocerebellar hypoplasia type 2		A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene.
http://purl.obolibrary.org/obo/DOID_0060270	pontocerebellar hypoplasia type 2D	http://purl.obolibrary.org/obo/DOID_0112328	pontocerebellar hypoplasia type 2		A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene.
http://purl.obolibrary.org/obo/DOID_0060271	pontocerebellar hypoplasia type 2E	http://purl.obolibrary.org/obo/DOID_0112328	pontocerebellar hypoplasia type 2		A pontocerebellar hypoplasia that is characterized by profoundly impaired intellectual development, progressive microcephaly, spasticity, and early-onset epilepsy that has_material_basis_in compound heterozygous mutation in the VPS53 gene on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0060272	pontocerebellar hypoplasia type 3	http://purl.obolibrary.org/obo/DOID_0060264	pontocerebellar hypoplasia		A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene.
http://purl.obolibrary.org/obo/DOID_0060273	pontocerebellar hypoplasia type 4	http://purl.obolibrary.org/obo/DOID_0060264	pontocerebellar hypoplasia		A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.
http://purl.obolibrary.org/obo/DOID_0060274	pontocerebellar hypoplasia type 5	http://purl.obolibrary.org/obo/DOID_0060264	pontocerebellar hypoplasia		A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.
http://purl.obolibrary.org/obo/DOID_0060275	pontocerebellar hypoplasia type 6	http://purl.obolibrary.org/obo/DOID_0060264	pontocerebellar hypoplasia		A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene.
http://purl.obolibrary.org/obo/DOID_0060276	pontocerebellar hypoplasia type 7	http://purl.obolibrary.org/obo/DOID_0060264	pontocerebellar hypoplasia		A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene.
http://purl.obolibrary.org/obo/DOID_0060277	pontocerebellar hypoplasia type 8	http://purl.obolibrary.org/obo/DOID_0060264	pontocerebellar hypoplasia		A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene.
http://purl.obolibrary.org/obo/DOID_0060278	pontocerebellar hypoplasia type 9	http://purl.obolibrary.org/obo/DOID_0060264	pontocerebellar hypoplasia		A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene.
http://purl.obolibrary.org/obo/DOID_0060279	pontocerebellar hypoplasia type 10	http://purl.obolibrary.org/obo/DOID_0060264	pontocerebellar hypoplasia		A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the CLP1 gene.
http://purl.obolibrary.org/obo/DOID_0060280	primary pigmented nodular adrenocortical disease	http://purl.obolibrary.org/obo/DOID_3952	adrenal cortex disease		An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules.
http://purl.obolibrary.org/obo/DOID_0060281	photosensitive epilepsy	http://purl.obolibrary.org/obo/DOID_1826	epilepsy		An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights.
http://purl.obolibrary.org/obo/DOID_0060282	persistent hyperplastic primary vitreous	http://purl.obolibrary.org/obo/DOID_9720	vitreous disease		A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development.
http://purl.obolibrary.org/obo/DOID_0060283	peeling skin syndrome	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease that is characterized by the painless, continuous peeling of the top layer of skin.
http://purl.obolibrary.org/obo/DOID_0060284	paroxysmal nocturnal hemoglobinuria	http://purl.obolibrary.org/obo/DOID_582	hemoglobinuria		An acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system.
http://purl.obolibrary.org/obo/DOID_0060285	parietal foramina	http://purl.obolibrary.org/obo/DOID_0080074	neural tube defect		An inherited neural tube defect that is characterized by enlarged openings in the parietal bones of the skull, has_material_basis_in mutation in the ALX4 gene or MSX2 gene.
http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency	http://purl.obolibrary.org/obo/DOID_700	mitochondrial metabolism disease		A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction.
http://purl.obolibrary.org/obo/DOID_0060287	cornea plana	http://purl.obolibrary.org/obo/DOID_10124	corneal disease		A corneal disease that is characterized by a flat cornea where the radius of curvature is less than 43 D.
http://purl.obolibrary.org/obo/DOID_0060288	omodysplasia	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that is characterized by severe limb shortening and facial dysmorphism.
http://purl.obolibrary.org/obo/DOID_0060289	Ohdo syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.
http://purl.obolibrary.org/obo/DOID_0060290	Ohdo syndrome, SBBYS variant	http://purl.obolibrary.org/obo/DOID_0060289	Ohdo syndrome		A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability and that has_material_basis_in heterozygous mutation in the KAT6B gene on chromosome 10q22.
http://purl.obolibrary.org/obo/DOID_0060291	oculodentodigital dysplasia	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities.
http://purl.obolibrary.org/obo/DOID_0060292	X-linked chondrodysplasia punctata 1	http://purl.obolibrary.org/obo/DOID_2581	chondrodysplasia punctata		A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, and that has_material_basis_in a mutation in the ARSE gene on chromosome Xp22.
http://purl.obolibrary.org/obo/DOID_0060293	autosomal dominant chondrodysplasia punctata	http://purl.obolibrary.org/obo/DOID_2581	chondrodysplasia punctata		A chondrodysplasia punctata that is characterized by abnormal facies and stippling of the limbs, associated with vitamin K-related teratogenicity, has_material_basis_in autosomal dominant inheritance.
http://purl.obolibrary.org/obo/DOID_0060294	cold-induced sweating syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by profuse sweating induced by cold ambient temperature.
http://purl.obolibrary.org/obo/DOID_0060295	complement component 2 deficiency	http://purl.obolibrary.org/obo/DOID_626	complement deficiency		A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in autosomal recessive inheritance of mutation in the C2 gene.
http://purl.obolibrary.org/obo/DOID_0060296	congenital secretory chloride diarrhea 1	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		A secretory diarrhea characterized by excretion of large amounts of watery stool containing high levels of chloride, resulting in dehydration, hypokalemia, and metabolic alkalosis that has_material_basis_in homozygous mutation in the SLC26A3 gene on chromosome 7q22-q31.
http://purl.obolibrary.org/obo/DOID_0060297	complement component 4a deficiency	http://purl.obolibrary.org/obo/DOID_626	complement deficiency		A complement deficiency that is characterized by recurrent bacterial infections, caused by C4A deficiency.
http://purl.obolibrary.org/obo/DOID_0060298	complement component 4b deficiency	http://purl.obolibrary.org/obo/DOID_626	complement deficiency		A complement deficiency that is characterized by recurrent bacterial infections, caused by C4B deficiency.
http://purl.obolibrary.org/obo/DOID_0060299	complement component 6 deficiency	http://purl.obolibrary.org/obo/DOID_626	complement deficiency		A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C6 gene.
http://purl.obolibrary.org/obo/DOID_0060300	complement component 7 deficiency	http://purl.obolibrary.org/obo/DOID_626	complement deficiency		A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C7 gene.
http://purl.obolibrary.org/obo/DOID_0060301	type I complement component 8 deficiency	http://purl.obolibrary.org/obo/DOID_626	complement deficiency		A complement deficiency that is characterized by deficiency of the alpha subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8A gene, which produces the alpha subunit of complement component 8 important in forming membrane attack complexes.
http://purl.obolibrary.org/obo/DOID_0060302	type II complement component 8 deficiency	http://purl.obolibrary.org/obo/DOID_626	complement deficiency		A complement deficiency that is characterized by deficiency of the beta subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8B gene, which produces the beta subunit of complement component 8 important in forming membrane attack complexes.
http://purl.obolibrary.org/obo/DOID_0060303	complement component 9 deficiency	http://purl.obolibrary.org/obo/DOID_626	complement deficiency		A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C9 gene.
http://purl.obolibrary.org/obo/DOID_0060304	dyschromatosis universalis hereditaria	http://purl.obolibrary.org/obo/DOID_10123	pigmentation disease		A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.
http://purl.obolibrary.org/obo/DOID_0060305	megalocornea	http://purl.obolibrary.org/obo/DOID_10124	corneal disease		A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene.
http://purl.obolibrary.org/obo/DOID_0060306	Meier-Gorlin syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation.
http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder	http://purl.obolibrary.org/obo/DOID_1059	intellectual disability		A intellectual disability characterized by an autosomal dominant inheritance pattern.
http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder	http://purl.obolibrary.org/obo/DOID_1059	intellectual disability		A intellectual disability characterized by an autosomal recessive inheritance pattern.
http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability	http://purl.obolibrary.org/obo/DOID_0050888	syndromic intellectual disability		A syndromic intellectual disability characterized by an X-linked inheritance pattern.
http://purl.obolibrary.org/obo/DOID_0060310	uvulitis	http://purl.obolibrary.org/obo/DOID_974	upper respiratory tract disease		An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size.
http://purl.obolibrary.org/obo/DOID_0060311	adenoid hypertrophy	http://purl.obolibrary.org/obo/DOID_974	upper respiratory tract disease		An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing.
http://purl.obolibrary.org/obo/DOID_0060312	angular cheilitis	http://purl.obolibrary.org/obo/DOID_1762	cheilitis		A cheilitis characterized by inflammation of one or both of the corners of the mouth.
http://purl.obolibrary.org/obo/DOID_0060313	tracheomalacia	http://purl.obolibrary.org/obo/DOID_3225	tracheal disease		A tracheal disease characterized by flaccidity of the tracheal support cartilage.
http://purl.obolibrary.org/obo/DOID_0060314	persistent generalized lymphadenopathy	http://purl.obolibrary.org/obo/DOID_9942	lymph node disease		A lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found.
http://purl.obolibrary.org/obo/DOID_0060315	oral hairy leukoplakia	http://purl.obolibrary.org/obo/DOID_403	mouth disease		A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus.
http://purl.obolibrary.org/obo/DOID_0060316	orofaciodigital syndrome I	http://purl.obolibrary.org/obo/DOID_4501	orofaciodigital syndrome		An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease.
http://purl.obolibrary.org/obo/DOID_0060317	lung abscess	http://purl.obolibrary.org/obo/DOID_850	lung disease		A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid.
http://purl.obolibrary.org/obo/DOID_0060318	acute promyelocytic leukemia	http://purl.obolibrary.org/obo/DOID_9119	acute myeloid leukemia		An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17.
http://purl.obolibrary.org/obo/DOID_0060319	cardiac arrest	http://purl.obolibrary.org/obo/DOID_6000	congestive heart failure		A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all.
http://purl.obolibrary.org/obo/DOID_0060320	inguinal hernia	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal.
http://purl.obolibrary.org/obo/DOID_0060321	umbilical hernia	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles.
http://purl.obolibrary.org/obo/DOID_0060322	mastoiditis	http://purl.obolibrary.org/obo/DOID_5100	middle ear disease		A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process.
http://purl.obolibrary.org/obo/DOID_0060323	breast abscess	http://purl.obolibrary.org/obo/DOID_3463	breast disease		A breast disease characterized by a collection of pus in the breast.
http://purl.obolibrary.org/obo/DOID_0060324	dental abscess	http://purl.obolibrary.org/obo/DOID_1091	tooth disease		A tooth disease characterized by a localized collection of pus associated with a tooth.
http://purl.obolibrary.org/obo/DOID_0060325	cervical polyp	http://purl.obolibrary.org/obo/DOID_2253	cervix disease		A cervix disease characterized by a benign polyp on the surface of the cervical canal.
http://purl.obolibrary.org/obo/DOID_0060326	myelomeningocele	http://purl.obolibrary.org/obo/DOID_319	spinal cord disease		A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes.
http://purl.obolibrary.org/obo/DOID_0060327	omphalocele	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac.
http://purl.obolibrary.org/obo/DOID_0060328	anal fistula	http://purl.obolibrary.org/obo/DOID_1285	rectal disease		An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin.
http://purl.obolibrary.org/obo/DOID_0060329	ectopic pregnancy	http://purl.obolibrary.org/obo/DOID_229	female reproductive system disease		A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity.
http://purl.obolibrary.org/obo/DOID_0060330	Rapp-Hodgkin syndrome	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate.
http://purl.obolibrary.org/obo/DOID_0060331	mitochondrial complex V (ATP synthase) deficiency nuclear type 2	http://purl.obolibrary.org/obo/DOID_0111143	mitochondrial complex V (ATP synthase) deficiency		A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21.
http://purl.obolibrary.org/obo/DOID_0060332	mitochondrial complex V (ATP synthase) deficiency nuclear type 3	http://purl.obolibrary.org/obo/DOID_0111143	mitochondrial complex V (ATP synthase) deficiency		A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13.
http://purl.obolibrary.org/obo/DOID_0060333	mitochondrial complex V (ATP synthase) deficiency nuclear type 4	http://purl.obolibrary.org/obo/DOID_0111143	mitochondrial complex V (ATP synthase) deficiency		A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5F1A gene on chromosome 18q21.1.
http://purl.obolibrary.org/obo/DOID_0060334	transient neonatal diabetes mellitus	http://purl.obolibrary.org/obo/DOID_11717	neonatal diabetes mellitus		A neonatal diabetes that is characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients.
http://purl.obolibrary.org/obo/DOID_0060335	autosomal dominant sideroblastic anemia 4	http://purl.obolibrary.org/obo/DOID_8955	sideroblastic anemia		A sideroblastic anemia characterized by an autosomal dominant inheritance pattern.
http://purl.obolibrary.org/obo/DOID_0060336	3-methylglutaconic aciduria	http://purl.obolibrary.org/obo/DOID_0060159	organic acidemia		An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine.
http://purl.obolibrary.org/obo/DOID_0060337	CEDNIK syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis.
http://purl.obolibrary.org/obo/DOID_0060338	parameningeal embryonal rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_3246	embryonal rhabdomyosarcoma		An embryonal rhabdomyosarcoma located in the parameningeal region.
http://purl.obolibrary.org/obo/DOID_0060339	chronic atrial and intestinal dysrhythmia	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has_material_basis_in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO).
http://purl.obolibrary.org/obo/DOID_0060340	ciliopathy	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.
http://purl.obolibrary.org/obo/DOID_0060341	agnathia-otocephaly complex	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported.
http://purl.obolibrary.org/obo/DOID_0060342	acromelic frontonasal dysostosis	http://purl.obolibrary.org/obo/DOID_1934	dysostosis		A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations.
http://purl.obolibrary.org/obo/DOID_0060343	glucocorticoid-induced osteoporosis	http://purl.obolibrary.org/obo/DOID_11476	osteoporosis		An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption.
http://purl.obolibrary.org/obo/DOID_0060344	acrodermatitis chronica atrophicans	http://purl.obolibrary.org/obo/DOID_2722	acrodermatitis		An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis.
http://purl.obolibrary.org/obo/DOID_0060345	bacillary angiomatosis	http://purl.obolibrary.org/obo/DOID_11102	bartonellosis		A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs.
http://purl.obolibrary.org/obo/DOID_0060346	congenital myopathy 13	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy that is characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0060347	acrorenal syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes.
http://purl.obolibrary.org/obo/DOID_0060348	hypoparathyroidism-retardation-dysmorphism syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene on chromosome 1q42.3.
http://purl.obolibrary.org/obo/DOID_0060349	microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.
http://purl.obolibrary.org/obo/DOID_0060350	adenine phosphoribosyltransferase deficiency	http://purl.obolibrary.org/obo/DOID_653	purine-pyrimidine metabolic disorder		A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24.
http://purl.obolibrary.org/obo/DOID_0060351	mitochondrial complex III deficiency nuclear type 2	http://purl.obolibrary.org/obo/DOID_0111139	mitochondrial complex III deficiency		A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern.
http://purl.obolibrary.org/obo/DOID_0060352	Kleefstra syndrome 1	http://purl.obolibrary.org/obo/DOID_0080597	Kleefstra syndrome		A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region.
http://purl.obolibrary.org/obo/DOID_0060353	acrofacial dysostosis Cincinnati type	http://purl.obolibrary.org/obo/DOID_0060379	acrofacial dysostosis		An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11.
http://purl.obolibrary.org/obo/DOID_0060354	Stormorken syndrome	http://purl.obolibrary.org/obo/DOID_2218	blood platelet disease		A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern.
http://purl.obolibrary.org/obo/DOID_0060355	amyotrophic lateral sclerosis type 22	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TUBA4A gene on chromosome 2q35.
http://purl.obolibrary.org/obo/DOID_0060356	Vici syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3.
http://purl.obolibrary.org/obo/DOID_0060357	chylomicron retention disease	http://purl.obolibrary.org/obo/DOID_3146	lipid metabolism disorder		A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1.
http://purl.obolibrary.org/obo/DOID_0060358	multiple acyl-CoA dehydrogenase deficiency	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal.
http://purl.obolibrary.org/obo/DOID_0060359	Sakati-Nyhan syndrome	http://purl.obolibrary.org/obo/DOID_12960	acrocephalosyndactylia		An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.
http://purl.obolibrary.org/obo/DOID_0060360	hereditary papulotranslucent acrokeratoderma	http://purl.obolibrary.org/obo/DOID_869	cholesteatoma		A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis.
http://purl.obolibrary.org/obo/DOID_0060361	punctate palmoplantar keratoderma	http://purl.obolibrary.org/obo/DOID_3390	palmoplantar keratosis		A palmoplantar keratosis characterized by keratoses with a raindrop pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.
http://purl.obolibrary.org/obo/DOID_0060362	punctate palmoplantar keratoderma type III	http://purl.obolibrary.org/obo/DOID_0060361	punctate palmoplantar keratoderma		A punctate palmoplantar keratoderma that is characterized by hyperkeratinization of the palms and soles, has_material_basis_in autosomal dominant inheritance of mutation in the AAGAB gene.
http://purl.obolibrary.org/obo/DOID_0060363	glycerol kinase deficiency	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21.
http://purl.obolibrary.org/obo/DOID_0060364	Galloway-Mowat syndrome 1	http://purl.obolibrary.org/obo/DOID_0080694	Galloway-Mowat syndrome		A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25.
http://purl.obolibrary.org/obo/DOID_0060365	mandibulofacial dysostosis with alopecia	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.
http://purl.obolibrary.org/obo/DOID_0060366	Hennekam syndrome	http://purl.obolibrary.org/obo/DOID_75	lymphatic system disease		A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients.
http://purl.obolibrary.org/obo/DOID_0060367	Parkinson's disease 1	http://purl.obolibrary.org/obo/DOID_0060892	late onset Parkinson's disease		A late onset Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein gene on chromosome 4q22.1.
http://purl.obolibrary.org/obo/DOID_0060368	Parkinson's disease 2	http://purl.obolibrary.org/obo/DOID_0060894	early-onset Parkinson's disease		An early-onset Parkinson's disease that has_material_basis_in mutation in the parkin gene on chromosome 6q25.2-q27.
http://purl.obolibrary.org/obo/DOID_0060369	Parkinson's disease 6	http://purl.obolibrary.org/obo/DOID_0060894	early-onset Parkinson's disease		An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12.
http://purl.obolibrary.org/obo/DOID_0060370	Parkinson's disease 7	http://purl.obolibrary.org/obo/DOID_0060894	early-onset Parkinson's disease		An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0060371	Parkinson's disease 8	http://purl.obolibrary.org/obo/DOID_0060892	late onset Parkinson's disease		A late onset Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene on chromosome 12q12.
http://purl.obolibrary.org/obo/DOID_0060372	Parkinson's disease 15	http://purl.obolibrary.org/obo/DOID_0060894	early-onset Parkinson's disease		An early-onset Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3.
http://purl.obolibrary.org/obo/DOID_0060373	orofaciodigital syndrome III	http://purl.obolibrary.org/obo/DOID_4501	orofaciodigital syndrome		An orofaciodigital syndrome that is characterized by dysmorphic facies and severe intellectual deficits, and has_material_basis_in autosomal recessive inheritance.
http://purl.obolibrary.org/obo/DOID_0060374	orofaciodigital syndrome IV	http://purl.obolibrary.org/obo/DOID_4501	orofaciodigital syndrome		An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene.
http://purl.obolibrary.org/obo/DOID_0060375	orofaciodigital syndrome V	http://purl.obolibrary.org/obo/DOID_4501	orofaciodigital syndrome		An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32.
http://purl.obolibrary.org/obo/DOID_0060376	Joubert syndrome with orofaciodigital defect	http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome		A Joubert syndrome that is characterized by orofaciodigital defect.
http://purl.obolibrary.org/obo/DOID_0060377	orofaciodigital syndrome VII	http://purl.obolibrary.org/obo/DOID_4501	orofaciodigital syndrome		An orofaciodigital syndrome that is characterized by oral, facial and digital abnormalities, and has_material_basis_in autosomal dominant inheritance.
http://purl.obolibrary.org/obo/DOID_0060378	orofaciodigital syndrome VIII	http://purl.obolibrary.org/obo/DOID_4501	orofaciodigital syndrome		An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has_material_basis_in X-linked recessive inheritance.
http://purl.obolibrary.org/obo/DOID_0060379	acrofacial dysostosis	http://purl.obolibrary.org/obo/DOID_1934	dysostosis		A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene.
http://purl.obolibrary.org/obo/DOID_0060380	orofaciodigital syndrome X	http://purl.obolibrary.org/obo/DOID_4501	orofaciodigital syndrome		An orofaciodigital syndrome that is characterized by facial, oral and digital deformities as well as radial shortening, fibular agenesis and coalescence of tarsal bones.
http://purl.obolibrary.org/obo/DOID_0060381	orofaciodigital syndrome XI	http://purl.obolibrary.org/obo/DOID_4501	orofaciodigital syndrome		An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects.
http://purl.obolibrary.org/obo/DOID_0060382	orofaciodigital syndrome IX	http://purl.obolibrary.org/obo/DOID_4501	orofaciodigital syndrome		An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus, bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance.
http://purl.obolibrary.org/obo/DOID_0060383	acrofacial dysostosis Rodriguez type	http://purl.obolibrary.org/obo/DOID_0060379	acrofacial dysostosis		An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance.
http://purl.obolibrary.org/obo/DOID_0060384	acrofacial dysostosis, Catania type	http://purl.obolibrary.org/obo/DOID_0060379	acrofacial dysostosis		An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias.
http://purl.obolibrary.org/obo/DOID_0060385	acrofacial dysostosis, Patagonia type	http://purl.obolibrary.org/obo/DOID_0060379	acrofacial dysostosis		An acrofacial dysostosis that is characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities and cleft lip, and has_material_basis_in X-linked dominant inheritance.
http://purl.obolibrary.org/obo/DOID_0060386	Chilblain lupus	http://purl.obolibrary.org/obo/DOID_0050169	cutaneous lupus erythematosus		A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene.
http://purl.obolibrary.org/obo/DOID_0060387	chondrodysplasia Blomstrand type	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene.
http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome	http://purl.obolibrary.org/obo/DOID_0080014	chromosomal disease		A chromosomal disease that has_material_basis_in partial deletion of chromosomes.
http://purl.obolibrary.org/obo/DOID_0060389	chromosome 10q23 deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has_material_basis_in recurrent deletions of chromosome 10q22.3-q23.2.
http://purl.obolibrary.org/obo/DOID_0060390	distal 10q deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10.
http://purl.obolibrary.org/obo/DOID_0060391	chromosome 13q14 deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has_material_basis_in deletion of the long arm of chromosome 13.
http://purl.obolibrary.org/obo/DOID_0060392	chromosome 14q11-q22 deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has_material_basis_in isolated cases of partial deletion of the long arm of chromosome 14.
http://purl.obolibrary.org/obo/DOID_0060393	chromosome 15q11.2 deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that is characterized by intellectual disability, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15.
http://purl.obolibrary.org/obo/DOID_0060394	chromosome 15q13.3 microdeletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15.
http://purl.obolibrary.org/obo/DOID_0060395	chromosome 15q24 deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15.
http://purl.obolibrary.org/obo/DOID_0060396	chromosome 15q25 deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that is characterized by intellectual disability and developmental delay, has_material_basis_in partial deletion of the long arm of chromosome 15.
http://purl.obolibrary.org/obo/DOID_0060397	chromosome 15q26-qter deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia.
http://purl.obolibrary.org/obo/DOID_0060398	chromosome 16p11.2 deletion syndrome, 220-kb	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 (chr16:28.73-28.95 Mb) encompassing approximately 9 genes, including the SH2B1 gene.
http://purl.obolibrary.org/obo/DOID_0060399	chromosome 16p12.1 deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that has_material_basis_in a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and congenital heart defects.
http://purl.obolibrary.org/obo/DOID_0060400	chromosome 16p12.2-p11.2 deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that has_material_basis_in a chromosome 16p12.2-p11.2 deletion and that is characterized by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment.
http://purl.obolibrary.org/obo/DOID_0060401	chromosome 16q22 deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that has_material_basis_in an interstitial 16q22 deletion that is characterized by a failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck.
http://purl.obolibrary.org/obo/DOID_0060402	chromosome 17p13.1 deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that has_material_basis_in a chromosome 17p13.1 deletion and that is characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.
http://purl.obolibrary.org/obo/DOID_0060403	chromosome 17q11.2 deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene.
http://purl.obolibrary.org/obo/DOID_0060404	chromosome 17q12 deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder.
http://purl.obolibrary.org/obo/DOID_0060405	chromosome 17q23.1-q23.2 deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q23.1-q23.2 deletion and that is characterized by characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.
http://purl.obolibrary.org/obo/DOID_0060406	chromosome 18p deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18.
http://purl.obolibrary.org/obo/DOID_0060407	chromosome 18q deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations.
http://purl.obolibrary.org/obo/DOID_0060408	chromosome 19q13.11 deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that has_material_basis_in a chromosome 19q13.11 deletion and that is characterized by characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties.
http://purl.obolibrary.org/obo/DOID_0060409	NFIA-related disorder	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that has_material_basis_in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia.
http://purl.obolibrary.org/obo/DOID_0060410	chromosome 1p36 deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears.
http://purl.obolibrary.org/obo/DOID_0060411	chromosome 1q21.1 deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems.
http://purl.obolibrary.org/obo/DOID_0060412	chromosome 1q41-q42 deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region.
http://purl.obolibrary.org/obo/DOID_0060413	chromosome 22q11.2 deletion syndrome, distal	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome.
http://purl.obolibrary.org/obo/DOID_0060414	chromosome 2p12-p11.2 deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p12-p11.2 region.
http://purl.obolibrary.org/obo/DOID_0060415	chromosome 2p16.1-p15 deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p16.1-p15 region that is characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate.
http://purl.obolibrary.org/obo/DOID_0060416	chromosome 2q31.2 deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2q31.2 region.
http://purl.obolibrary.org/obo/DOID_0060417	3p deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia.
http://purl.obolibrary.org/obo/DOID_0060418	chromosome 3q13.31 deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia.
http://purl.obolibrary.org/obo/DOID_0060419	chromosome 3q29 microdeletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q29 region.
http://purl.obolibrary.org/obo/DOID_0060420	chromosome 4q21 deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 4q21 region.
http://purl.obolibrary.org/obo/DOID_0060421	chromosome 5q12 deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 5q12 region.
http://purl.obolibrary.org/obo/DOID_0060422	chromosome 6pter-p24 deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region.
http://purl.obolibrary.org/obo/DOID_0060423	chromosome 6q11-q14 deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q11-q14 region and that is characterize by hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate.
http://purl.obolibrary.org/obo/DOID_0060424	chromosome 6q24-q25 deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q24-q25 region.
http://purl.obolibrary.org/obo/DOID_0060425	chromosome 8q21.11 deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 8q21.11 region and that is characterized by intellectual disability and common facial dysmorphic features.
http://purl.obolibrary.org/obo/DOID_0060426	chromosome 19p13.13 deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that has_material_basis_in a chromosome 19p13.13 deletion and that is characterized by an unusually large head size, tall stature, and intellectual disability that is usually moderate in severity.
http://purl.obolibrary.org/obo/DOID_0060427	chromosome Xp21 deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome Xp21 region.
http://purl.obolibrary.org/obo/DOID_0060428	SATB2-associated syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2.
http://purl.obolibrary.org/obo/DOID_0060429	chromosomal duplication syndrome	http://purl.obolibrary.org/obo/DOID_0080014	chromosomal disease		A chromosomal disease that has_material_basis_in extra copies of a chromosomal region.
http://purl.obolibrary.org/obo/DOID_0060430	chromosome 16p11.2 duplication syndrome	http://purl.obolibrary.org/obo/DOID_0060429	chromosomal duplication syndrome		A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language.
http://purl.obolibrary.org/obo/DOID_0060431	chromosome 16p13.3 duplication syndrome	http://purl.obolibrary.org/obo/DOID_0060429	chromosomal duplication syndrome		A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p13.3 region.
http://purl.obolibrary.org/obo/DOID_0060432	chromosome 17p13.3 duplication syndrome	http://purl.obolibrary.org/obo/DOID_0060429	chromosomal duplication syndrome		A chromosomal duplication syndrome that has_material_basis_in the PAFAH1B1 and/or the YWHAE gene on chromosome 17p13.3.
http://purl.obolibrary.org/obo/DOID_0060433	chromosome 17q12 duplication syndrome	http://purl.obolibrary.org/obo/DOID_0060429	chromosomal duplication syndrome		A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q12 region.
http://purl.obolibrary.org/obo/DOID_0060434	chromosome 17q21.31 duplication syndrome	http://purl.obolibrary.org/obo/DOID_0060429	chromosomal duplication syndrome		A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q21.31 region.
http://purl.obolibrary.org/obo/DOID_0060435	chromosome 1q21.1 duplication syndrome	http://purl.obolibrary.org/obo/DOID_0060429	chromosomal duplication syndrome		A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 1q21.1 region.
http://purl.obolibrary.org/obo/DOID_0060436	chromosome 22q11.2 microduplication syndrome	http://purl.obolibrary.org/obo/DOID_0060429	chromosomal duplication syndrome		A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q11.2 region.
http://purl.obolibrary.org/obo/DOID_0060437	chromosome 22q13 duplication syndrome	http://purl.obolibrary.org/obo/DOID_0060429	chromosomal duplication syndrome		A chromosomal duplication syndrome that has_material_basis_in heterozygous interstitial duplication in chromosome 22q13 involving the SHANK3 gene.
http://purl.obolibrary.org/obo/DOID_0060438	Cole-Carpenter syndrome	http://purl.obolibrary.org/obo/DOID_12347	osteogenesis imperfecta		An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance.
http://purl.obolibrary.org/obo/DOID_0060439	lysinuric protein intolerance	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11.
http://purl.obolibrary.org/obo/DOID_0060440	epithelial and subepithelial dystrophy	http://purl.obolibrary.org/obo/DOID_2566	corneal dystrophy		A corneal dystrophy that primarily affects the corneal epithelium and its basement membrane.
http://purl.obolibrary.org/obo/DOID_0060441	epithelial-stromal TGFBI dystrophy	http://purl.obolibrary.org/obo/DOID_2566	corneal dystrophy		A corneal dystrophy that is characterized by abnormal deposition of proteins in the cornea and is caused by mutations in TGFBI gene of chromosome 5q.
http://purl.obolibrary.org/obo/DOID_0060442	stromal dystrophy	http://purl.obolibrary.org/obo/DOID_2566	corneal dystrophy		A corneal dystrophy that affects the corneal stroma.
http://purl.obolibrary.org/obo/DOID_0060443	corneal endothelial dystrophy	http://purl.obolibrary.org/obo/DOID_2566	corneal dystrophy		A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane.
http://purl.obolibrary.org/obo/DOID_0060444	granular corneal dystrophy 2	http://purl.obolibrary.org/obo/DOID_12318	granular corneal dystrophy		An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface.
http://purl.obolibrary.org/obo/DOID_0060445	congenital stromal corneal dystrophy	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		A stromal dystrophy that is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth.
http://purl.obolibrary.org/obo/DOID_0060446	X-linked endothelial corneal dystrophy	http://purl.obolibrary.org/obo/DOID_0080009	X-linked dominant disease		A corneal endothelial dystrophy that is characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.
http://purl.obolibrary.org/obo/DOID_0060447	epithelial basement membrane dystrophy	http://purl.obolibrary.org/obo/DOID_0060440	epithelial and subepithelial dystrophy		An epithelial and subepithelial dystrophy that is characterized by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium.
http://purl.obolibrary.org/obo/DOID_0060448	Fleck corneal dystrophy	http://purl.obolibrary.org/obo/DOID_0060442	stromal dystrophy		A stromal dystrophy that is characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma and that has_material_basis_in heterozygous mutation in the PIKFYVE gene on chromosome 2q34.
http://purl.obolibrary.org/obo/DOID_0060449	gelatinous drop-like corneal dystrophy	http://purl.obolibrary.org/obo/DOID_0060440	epithelial and subepithelial dystrophy		An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32.
http://purl.obolibrary.org/obo/DOID_0060450	Lisch epithelial corneal dystrophy	http://purl.obolibrary.org/obo/DOID_0080009	X-linked dominant disease		An epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns and that has_material_basis_in the MCOLN1 gene on Chr. 19.
http://purl.obolibrary.org/obo/DOID_0060451	Meesmann corneal dystrophy	http://purl.obolibrary.org/obo/DOID_0060440	epithelial and subepithelial dystrophy		An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium.
http://purl.obolibrary.org/obo/DOID_0060452	posterior amorphous corneal dystrophy	http://purl.obolibrary.org/obo/DOID_0060442	stromal dystrophy		A stromal dystrophy that is characterized by irregular sheetlike areas of opacification with involvement of the Descemet membrane and, in some instances, alterations of the normal endothelial mosaic and that has_material_basis_in a chromosome 12q21.33 contiguous gene deletion syndrome.
http://purl.obolibrary.org/obo/DOID_0060453	Reis-Bucklers corneal dystrophy	http://purl.obolibrary.org/obo/DOID_0060441	epithelial-stromal TGFBI dystrophy		An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea.
http://purl.obolibrary.org/obo/DOID_0060454	subepithelial mucinous corneal dystrophy	http://purl.obolibrary.org/obo/DOID_0060440	epithelial and subepithelial dystrophy		An epithelial and subepithelial dystrophy that is characterized by frequent, recurrent corneal erosions in the first decade of life.
http://purl.obolibrary.org/obo/DOID_0060455	Thiel-Behnke corneal dystrophy	http://purl.obolibrary.org/obo/DOID_0060441	epithelial-stromal TGFBI dystrophy		An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea.
http://purl.obolibrary.org/obo/DOID_0060456	Schnyder corneal dystrophy	http://purl.obolibrary.org/obo/DOID_0060442	stromal dystrophy		A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0060457	posterior polymorphous corneal dystrophy	http://purl.obolibrary.org/obo/DOID_2566	corneal dystrophy		A corneal dystrophy that is characterized by changes in Descemet's membrane and endothelial layer.
http://purl.obolibrary.org/obo/DOID_0060458	chromosome 2q31.1 duplication syndrome	http://purl.obolibrary.org/obo/DOID_0060429	chromosomal duplication syndrome		A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 2q31.1 region.
http://purl.obolibrary.org/obo/DOID_0060459	chromosome 3q29 microduplication syndrome	http://purl.obolibrary.org/obo/DOID_0060429	chromosomal duplication syndrome		A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 3q29 region.
http://purl.obolibrary.org/obo/DOID_0060460	chromosome 5p13 duplication syndrome	http://purl.obolibrary.org/obo/DOID_0060429	chromosomal duplication syndrome		A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 5p13 region.
http://purl.obolibrary.org/obo/DOID_0060461	chromosome Xp11.23-p11.22 duplication syndrome	http://purl.obolibrary.org/obo/DOID_0080009	X-linked dominant disease		A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome Xp11.23-p11.22 region.
http://purl.obolibrary.org/obo/DOID_0060462	Desbuquois dysplasia	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx.
http://purl.obolibrary.org/obo/DOID_0060463	NUT midline carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum.
http://purl.obolibrary.org/obo/DOID_0060464	Feingold syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation.
http://purl.obolibrary.org/obo/DOID_0060465	fibrochondrogenesis	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that is characterized by shortened long bones in the arms and legs that are unusually wide at the ends, flattened vertebrae with a characteristic pinched or pear shape, and a very narrow chest in infants with short, wide ribs and a round and prominent abdomen.
http://purl.obolibrary.org/obo/DOID_0060466	gingival fibromatosis	http://purl.obolibrary.org/obo/DOID_3086	gingival overgrowth		A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa.
http://purl.obolibrary.org/obo/DOID_0060467	humeroradial synostosis	http://purl.obolibrary.org/obo/DOID_11971	synostosis		A synostosis that is characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity.
http://purl.obolibrary.org/obo/DOID_0060468	Holt-Oram syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by congenital anomalies located_in heart and located_in upper limb.
http://purl.obolibrary.org/obo/DOID_0060469	Miller-Dieker lissencephaly syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene.
http://purl.obolibrary.org/obo/DOID_0060470	salt and pepper syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the SIAT9 gene on chromosome 2p11.2.
http://purl.obolibrary.org/obo/DOID_0060471	fetal valproate syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction.
http://purl.obolibrary.org/obo/DOID_0060472	Kindler syndrome	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling.
http://purl.obolibrary.org/obo/DOID_0060473	Kabuki syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects.
http://purl.obolibrary.org/obo/DOID_0060474	familial erythrocytosis 2	http://purl.obolibrary.org/obo/DOID_10780	primary polycythemia		A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25.
http://purl.obolibrary.org/obo/DOID_0060475	myoclonic-atonic epilepsy	http://purl.obolibrary.org/obo/DOID_1827	generalized epilepsy		An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25.
http://purl.obolibrary.org/obo/DOID_0060476	Perlman syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome.
http://purl.obolibrary.org/obo/DOID_0060478	Zika fever	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that has_material_basis_in Zika virus (Orthoflavivirus zikaense), which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain.
http://purl.obolibrary.org/obo/DOID_0060479	Shwachman-Diamond syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities.
http://purl.obolibrary.org/obo/DOID_0060480	left ventricular noncompaction	http://purl.obolibrary.org/obo/DOID_0060036	intrinsic cardiomyopathy		An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium.
http://purl.obolibrary.org/obo/DOID_0060481	Goldberg-Shprintzen syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has_material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1.
http://purl.obolibrary.org/obo/DOID_0060482	oculoauricular syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule.
http://purl.obolibrary.org/obo/DOID_0060483	MEDNIK syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22.
http://purl.obolibrary.org/obo/DOID_0060484	EAST syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23.
http://purl.obolibrary.org/obo/DOID_0060485	Mowat-Wilson syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22.
http://purl.obolibrary.org/obo/DOID_0060486	Perry syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has_material_basis_in heterozygous mutation in the DCTN1 gene on chromosome 2p13.
http://purl.obolibrary.org/obo/DOID_0060488	Pitt-Hopkins syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21.
http://purl.obolibrary.org/obo/DOID_0060490	Schimke immuno-osseous dysplasia	http://purl.obolibrary.org/obo/DOID_0080027	spondyloepimetaphyseal dysplasia		A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene.
http://purl.obolibrary.org/obo/DOID_0060491	SPOAN syndrome	http://purl.obolibrary.org/obo/DOID_1289	neurodegenerative disease		A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy and that has_material_basis_in homozygous mutation in the KLC2 gene on chromosome 11q13.2.
http://purl.obolibrary.org/obo/DOID_0060492	chicken egg allergy	http://purl.obolibrary.org/obo/DOID_4377	egg allergy		An egg allergy triggered by Gallus gallus eggs.
http://purl.obolibrary.org/obo/DOID_0060495	shellfish allergy	http://purl.obolibrary.org/obo/DOID_3044	food allergy		A food allergy triggered by Crustacea or Mollusca.
http://purl.obolibrary.org/obo/DOID_0060496	respiratory allergy	http://purl.obolibrary.org/obo/DOID_1205	allergic disease		An allergic disease that is located_in the respiratory tract.
http://purl.obolibrary.org/obo/DOID_0060497	pollen allergy	http://purl.obolibrary.org/obo/DOID_0060496	respiratory allergy		A respiratory allergy triggered by pollen.
http://purl.obolibrary.org/obo/DOID_0060498	Timothy grass allergy	http://purl.obolibrary.org/obo/DOID_0060497	pollen allergy		A pollen allergy triggered by Phleum pratense pollen.
http://purl.obolibrary.org/obo/DOID_0060499	autoimmune neuropathy	http://purl.obolibrary.org/obo/DOID_0060004	autoimmune disease of central nervous system		An autoimmune disease of central nervous system caused by an autoimmune response.
http://purl.obolibrary.org/obo/DOID_0060500	drug allergy	http://purl.obolibrary.org/obo/DOID_1205	allergic disease		An allergic disease that is triggered by a drug.
http://purl.obolibrary.org/obo/DOID_0060501	metal allergy	http://purl.obolibrary.org/obo/DOID_1205	allergic disease		An allergic disease that is triggered by a metal.
http://purl.obolibrary.org/obo/DOID_0060502	gastrointestinal allergy	http://purl.obolibrary.org/obo/DOID_1205	allergic disease		An allergic disease that is located_in the gastrointestinal tract.
http://purl.obolibrary.org/obo/DOID_0060503	fruit allergy	http://purl.obolibrary.org/obo/DOID_3044	food allergy		A food allergy triggered by a plant fruit product.
http://purl.obolibrary.org/obo/DOID_0060504	apple allergy	http://purl.obolibrary.org/obo/DOID_0060503	fruit allergy		A fruit allergy triggered by Malus domestica plant fruit food product.
http://purl.obolibrary.org/obo/DOID_0060505	apricot allergy	http://purl.obolibrary.org/obo/DOID_0060503	fruit allergy		A fruit allergy triggered by Prunus armeniaca plant fruit food product.
http://purl.obolibrary.org/obo/DOID_0060506	cherry allergy	http://purl.obolibrary.org/obo/DOID_0060503	fruit allergy		A fruit allergy triggered by Prunus avium plant fruit food product.
http://purl.obolibrary.org/obo/DOID_0060507	Indian plum allergy	http://purl.obolibrary.org/obo/DOID_0060503	fruit allergy		A fruit allergy triggered by Ziziphus mauritiana plant fruit food product.
http://purl.obolibrary.org/obo/DOID_0060508	orange allergy	http://purl.obolibrary.org/obo/DOID_0060503	fruit allergy		A fruit allergy triggered by Citrus sinensis plant fruit food product.
http://purl.obolibrary.org/obo/DOID_0060509	melon allergy	http://purl.obolibrary.org/obo/DOID_0060503	fruit allergy		A fruit allergy triggered by Cucumis melo plant fruit food product.
http://purl.obolibrary.org/obo/DOID_0060510	peach allergy	http://purl.obolibrary.org/obo/DOID_0060503	fruit allergy		A fruit allergy triggered by Prunus persica plant fruit food product.
http://purl.obolibrary.org/obo/DOID_0060511	plum allergy	http://purl.obolibrary.org/obo/DOID_0060503	fruit allergy		A fruit allergy triggered by Prunus domestica plant fruit food product.
http://purl.obolibrary.org/obo/DOID_0060512	tomato allergy	http://purl.obolibrary.org/obo/DOID_0060503	fruit allergy		A fruit allergy triggered by Solanum lycopersicum plant fruit food product.
http://purl.obolibrary.org/obo/DOID_0060513	fish allergy	http://purl.obolibrary.org/obo/DOID_3044	food allergy		A food allergy triggered by fish.
http://purl.obolibrary.org/obo/DOID_0060514	Atlantic cod allergy	http://purl.obolibrary.org/obo/DOID_0060513	fish allergy		A fish allergy triggered by Gadus morhua.
http://purl.obolibrary.org/obo/DOID_0060515	Atlantic salmon allergy	http://purl.obolibrary.org/obo/DOID_0060513	fish allergy		A fish allergy triggered by Salmo salar.
http://purl.obolibrary.org/obo/DOID_0060516	carp allergy	http://purl.obolibrary.org/obo/DOID_0060513	fish allergy		A fish allergy triggered by Cyprinus carpio.
http://purl.obolibrary.org/obo/DOID_0060517	zebrafish allergy	http://purl.obolibrary.org/obo/DOID_0060513	fish allergy		A fish allergy triggered by Danio rerio.
http://purl.obolibrary.org/obo/DOID_0060518	rainbow trout allergy	http://purl.obolibrary.org/obo/DOID_0060513	fish allergy		A fish allergy triggered by Oncorhynchus mykiss.
http://purl.obolibrary.org/obo/DOID_0060519	beta-lactam allergy	http://purl.obolibrary.org/obo/DOID_0060500	drug allergy		A drug allergy triggered by a beta-lactam.
http://purl.obolibrary.org/obo/DOID_0060520	penicillin allergy	http://purl.obolibrary.org/obo/DOID_0060519	beta-lactam allergy		A beta-lactam allergy triggered by penicillin.
http://purl.obolibrary.org/obo/DOID_0060521	cow milk allergy	http://purl.obolibrary.org/obo/DOID_4376	milk allergy		A milk allergy triggered by Bos taurus milk.
http://purl.obolibrary.org/obo/DOID_0060522	goat milk allergy	http://purl.obolibrary.org/obo/DOID_4376	milk allergy		A milk allergy triggered by Capra hircus milk.
http://purl.obolibrary.org/obo/DOID_0060523	mollusc allergy	http://purl.obolibrary.org/obo/DOID_0060495	shellfish allergy		A shellfish allergy triggered by Mollusca.
http://purl.obolibrary.org/obo/DOID_0060524	crustacean allergy	http://purl.obolibrary.org/obo/DOID_0060495	shellfish allergy		A shellfish allergy triggered by Crustacea.
http://purl.obolibrary.org/obo/DOID_0060525	brown shrimp allergy	http://purl.obolibrary.org/obo/DOID_0040001	shrimp allergy		A crustacean allergy triggered by Farfantepenaeus aztecus.
http://purl.obolibrary.org/obo/DOID_0060526	crab allergy	http://purl.obolibrary.org/obo/DOID_0060524	crustacean allergy		A crustacean allergy triggered by Scylla paramamosain.
http://purl.obolibrary.org/obo/DOID_0060527	Indian prawn allergy	http://purl.obolibrary.org/obo/DOID_0040001	shrimp allergy		A crustacean allergy triggered by Fenneropenaeus indicus.
http://purl.obolibrary.org/obo/DOID_0060528	tiger prawn allergy	http://purl.obolibrary.org/obo/DOID_0040001	shrimp allergy		A crustacean allergy triggered by Penaeus monodon.
http://purl.obolibrary.org/obo/DOID_0060529	white shrimp allergy	http://purl.obolibrary.org/obo/DOID_0040001	shrimp allergy		A crustacean allergy triggered by Litopenaeus vannamei.
http://purl.obolibrary.org/obo/DOID_0060530	snail allergy	http://purl.obolibrary.org/obo/DOID_0060523	mollusc allergy		A mollusc allergy triggered by snails.
http://purl.obolibrary.org/obo/DOID_0060531	horned turban snail allergy	http://purl.obolibrary.org/obo/DOID_0060530	snail allergy		A snail allergy triggered by the horned turban snail.
http://purl.obolibrary.org/obo/DOID_0060532	latex allergy	http://purl.obolibrary.org/obo/DOID_1205	allergic disease		An allergic disease that is triggered by latex.
http://purl.obolibrary.org/obo/DOID_0060534	hepatoid adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver.
http://purl.obolibrary.org/obo/DOID_0060535	Warsaw breakage syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome mainly characterized by severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11.
http://purl.obolibrary.org/obo/DOID_0060536	mitochondrial complex I deficiency	http://purl.obolibrary.org/obo/DOID_700	mitochondrial metabolism disease		A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded.
http://purl.obolibrary.org/obo/DOID_0060537	mitochondrial complex II deficiency	http://purl.obolibrary.org/obo/DOID_700	mitochondrial metabolism disease		A mitochondrial metabolism disease characterized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23.
http://purl.obolibrary.org/obo/DOID_0060538	purpura fulminans	http://purl.obolibrary.org/obo/DOID_3326	purpura		A purpura characterized by blood spots, bruising and discoloration of the skin resulting from coagulation in small blood vessels within the skin and rapidly leading to skin necrosis and disseminated intravascular coagulation. It is often fatal.
http://purl.obolibrary.org/obo/DOID_0060539	Hermansky-Pudlak syndrome 1	http://purl.obolibrary.org/obo/DOID_3753	Hermansky-Pudlak syndrome		A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24.
http://purl.obolibrary.org/obo/DOID_0060540	Hermansky-Pudlak syndrome 2	http://purl.obolibrary.org/obo/DOID_3753	Hermansky-Pudlak syndrome		A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1.
http://purl.obolibrary.org/obo/DOID_0060541	Hermansky-Pudlak syndrome 3	http://purl.obolibrary.org/obo/DOID_3753	Hermansky-Pudlak syndrome		A Hermasky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24.
http://purl.obolibrary.org/obo/DOID_0060542	Hermansky-Pudlak syndrome 4	http://purl.obolibrary.org/obo/DOID_3753	Hermansky-Pudlak syndrome		A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1.
http://purl.obolibrary.org/obo/DOID_0060543	Hermansky-Pudlak syndrome 5	http://purl.obolibrary.org/obo/DOID_3753	Hermansky-Pudlak syndrome		A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14.
http://purl.obolibrary.org/obo/DOID_0060544	Hermansky-Pudlak syndrome 6	http://purl.obolibrary.org/obo/DOID_3753	Hermansky-Pudlak syndrome		A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24.
http://purl.obolibrary.org/obo/DOID_0060545	Hermansky-Pudlak syndrome 7	http://purl.obolibrary.org/obo/DOID_3753	Hermansky-Pudlak syndrome		A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3.
http://purl.obolibrary.org/obo/DOID_0060546	Hermansky-Pudlak syndrome 8	http://purl.obolibrary.org/obo/DOID_3753	Hermansky-Pudlak syndrome		A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0060547	Hermansky-Pudlak syndrome 9	http://purl.obolibrary.org/obo/DOID_3753	Hermansky-Pudlak syndrome		A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21.
http://purl.obolibrary.org/obo/DOID_0060548	luminal breast carcinoma A	http://purl.obolibrary.org/obo/DOID_3459	breast carcinoma		A breast carcinoma that is characterized by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3.
http://purl.obolibrary.org/obo/DOID_0060549	Barber-Say syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37.
http://purl.obolibrary.org/obo/DOID_0060550	ablepharon macrostomia syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37.
http://purl.obolibrary.org/obo/DOID_0060551	poikiloderma with neutropenia	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has_material_basis_in mutation in the C16ORF57 gene on chromosome 16q13.
http://purl.obolibrary.org/obo/DOID_0060556	Kufor-Rakeb syndrome	http://purl.obolibrary.org/obo/DOID_0060894	early-onset Parkinson's disease		An early-onset Parkinson's disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0060557	ataxia-oculomotor apraxia 3	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the PIK3R5 gene on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0060558	lethal congenital contracture syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.
http://purl.obolibrary.org/obo/DOID_0060559	lethal congenital contracture syndrome 1	http://purl.obolibrary.org/obo/DOID_0060558	lethal congenital contracture syndrome		A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator the GLE1 gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0060560	lethal congenital contracture syndrome 2	http://purl.obolibrary.org/obo/DOID_0060558	lethal congenital contracture syndrome		A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0060562	anomalous left coronary artery from the pulmonary artery	http://purl.obolibrary.org/obo/DOID_11843	coronary artery anomaly		A coronary artery anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus.
http://purl.obolibrary.org/obo/DOID_0060563	Char syndrome	http://purl.obolibrary.org/obo/DOID_13832	patent ductus arteriosus		A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits.
http://purl.obolibrary.org/obo/DOID_0060564	spinal disease	http://purl.obolibrary.org/obo/DOID_0080001	bone disease		A bone disease that is located_in the spine.
http://purl.obolibrary.org/obo/DOID_0060565	Ritscher-Schinzel syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.
http://purl.obolibrary.org/obo/DOID_0060566	Holzgreve-Wagner-Rehder Syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects.
http://purl.obolibrary.org/obo/DOID_0060567	erythema elevatum diutinum	http://purl.obolibrary.org/obo/DOID_865	vasculitis		A vasculitis characterized by red, purple, brown or yellow papules (raised spot), plaques, or nodules, found on the backs of the hands, other extensor surfaces overlying joints, and on the buttocks.
http://purl.obolibrary.org/obo/DOID_0060569	hypertrichotic osteochondrodysplasia Cantu type	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly.
http://purl.obolibrary.org/obo/DOID_0060570	cardiac tuberculosis	http://purl.obolibrary.org/obo/DOID_399	tuberculosis		A tuberculosis located in the heart.
http://purl.obolibrary.org/obo/DOID_0060571	Ritscher-Schinzel syndrome 1	http://purl.obolibrary.org/obo/DOID_0060565	Ritscher-Schinzel syndrome		A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24.
http://purl.obolibrary.org/obo/DOID_0060572	Ritscher-Schinzel syndrome 2	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11.
http://purl.obolibrary.org/obo/DOID_0060573	von Willebrand's disease 1	http://purl.obolibrary.org/obo/DOID_12531	von Willebrand's disease		A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13.
http://purl.obolibrary.org/obo/DOID_0060574	von Willebrand's disease 2	http://purl.obolibrary.org/obo/DOID_12531	von Willebrand's disease		A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has_material_basis_in mutation in the VWF gene which maps to chromosome 12p13.
http://purl.obolibrary.org/obo/DOID_0060575	3MC syndrome 1	http://purl.obolibrary.org/obo/DOID_0060225	3MC syndrome		A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (MASP1) on chromosome 3q27.
http://purl.obolibrary.org/obo/DOID_0060576	3MC syndrome 2	http://purl.obolibrary.org/obo/DOID_0060225	3MC syndrome		A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25.
http://purl.obolibrary.org/obo/DOID_0060577	3MC syndrome 3	http://purl.obolibrary.org/obo/DOID_0060225	3MC syndrome		A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24.
http://purl.obolibrary.org/obo/DOID_0060578	Noonan syndrome 1	http://purl.obolibrary.org/obo/DOID_3490	Noonan syndrome		A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24.
http://purl.obolibrary.org/obo/DOID_0060580	Noonan syndrome 2	http://purl.obolibrary.org/obo/DOID_3490	Noonan syndrome		A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has_material_basis_in homozygous or compound heterozygous mutation in the LZTR1 gene on chromosome 22q11.
http://purl.obolibrary.org/obo/DOID_0060581	Noonan syndrome 3	http://purl.obolibrary.org/obo/DOID_3490	Noonan syndrome		A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene.
http://purl.obolibrary.org/obo/DOID_0060582	Noonan syndrome 4	http://purl.obolibrary.org/obo/DOID_3490	Noonan syndrome		A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22.
http://purl.obolibrary.org/obo/DOID_0060583	Noonan syndrome 5	http://purl.obolibrary.org/obo/DOID_3490	Noonan syndrome		A Noonan syndrome that has_material_basis_in mutation in the RAF1 gene.
http://purl.obolibrary.org/obo/DOID_0060584	Noonan syndrome 6	http://purl.obolibrary.org/obo/DOID_3490	Noonan syndrome		A Noonan syndrome that has_material_basis_in heterozygous mutation in the NRAS gene on chromosome 1p13.
http://purl.obolibrary.org/obo/DOID_0060585	Noonan syndrome 7	http://purl.obolibrary.org/obo/DOID_3490	Noonan syndrome		A Noonan syndrome that has_material_basis_in heterozygous mutation in the BRAF gene.
http://purl.obolibrary.org/obo/DOID_0060586	Noonan syndrome 8	http://purl.obolibrary.org/obo/DOID_3490	Noonan syndrome		A Noonan syndrome that has_material_basis_in caused by heterozygous mutation in the RIT1 gene on chromosome 1q22.
http://purl.obolibrary.org/obo/DOID_0060587	Noonan syndrome 9	http://purl.obolibrary.org/obo/DOID_3490	Noonan syndrome		A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS2 gene on chromosome 14q21.
http://purl.obolibrary.org/obo/DOID_0060588	Noonan syndrome 10	http://purl.obolibrary.org/obo/DOID_3490	Noonan syndrome		A Noonan syndrome that has_material_basis_in heterozygous mutation in the LZTR1 gene on chromosome 22q11.
http://purl.obolibrary.org/obo/DOID_0060589	Yunis-Varon syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21.
http://purl.obolibrary.org/obo/DOID_0060590	XFE progeroid syndrome	http://purl.obolibrary.org/obo/DOID_0081332	progeroid syndrome		A progeroid syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13.
http://purl.obolibrary.org/obo/DOID_0060591	WHIM syndrome 1	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22.
http://purl.obolibrary.org/obo/DOID_0060592	B-cell adult acute lymphocytic leukemia	http://purl.obolibrary.org/obo/DOID_5604	adult acute lymphocytic leukemia		An adult acute lymphoblastic leukemia occurring in adults and that has_material_basis_in B lymphocytes.
http://purl.obolibrary.org/obo/DOID_0060597	atypical chronic myeloid leukemia, BCR-ABL1 negative	http://purl.obolibrary.org/obo/DOID_4972	myelodysplastic/myeloproliferative neoplasm		A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene.
http://purl.obolibrary.org/obo/DOID_0060599	Nance-Horan syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that has_material_basis_in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies.
http://purl.obolibrary.org/obo/DOID_0060601	alpha-2-plasmin inhibitor deficiency	http://purl.obolibrary.org/obo/DOID_2213	hemorrhagic disease		A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes.
http://purl.obolibrary.org/obo/DOID_0060602	alpha-methylacyl-CoA racemase deficiency	http://purl.obolibrary.org/obo/DOID_906	peroxisomal disease		A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1.
http://purl.obolibrary.org/obo/DOID_0060603	isolated anhidrosis with normal sweat glands	http://purl.obolibrary.org/obo/DOID_11156	anhidrosis		An anhidrosis that has_material_basis_in homozygous mutation in the ITPR2 gene on chromosome 12p11.
http://purl.obolibrary.org/obo/DOID_0060604	ankyloglossia	http://purl.obolibrary.org/obo/DOID_10944	tongue disease		A tongue disease characterized by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth.
http://purl.obolibrary.org/obo/DOID_0060606	fetal nicotine spectrum disorder	http://purl.obolibrary.org/obo/DOID_0060038	specific developmental disorder		A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy.
http://purl.obolibrary.org/obo/DOID_0060608	microcephalic osteodysplastic primordial dwarfism type I	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2.
http://purl.obolibrary.org/obo/DOID_0060609	microcephalic osteodysplastic primordial dwarfism type II	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly.
http://purl.obolibrary.org/obo/DOID_0060610	megacystis-microcolon-intestinal hypoperistalsis syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis.
http://purl.obolibrary.org/obo/DOID_0060611	abdominal obesity-metabolic syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease.
http://purl.obolibrary.org/obo/DOID_0060612	abdominal obesity-metabolic syndrome 3	http://purl.obolibrary.org/obo/DOID_0060611	abdominal obesity-metabolic syndrome		An abdominal obesity-metabolic syndrome that has_material_basis_in heterozygous mutation in the DYRK1B gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0060613	X-linked cleft palate with or without ankyloglossia	http://purl.obolibrary.org/obo/DOID_674	cleft palate		A cleft palate that has_material_basis_in mutation in the TBX22 gene on chromosome Xq21.
http://purl.obolibrary.org/obo/DOID_0060614	ulnar-mammary syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene.
http://purl.obolibrary.org/obo/DOID_0060638	neonatal diabetes mellitus with congenital hypothyroidism	http://purl.obolibrary.org/obo/DOID_11717	neonatal diabetes mellitus		A neonatal diabetes that is characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life, and that has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24.
http://purl.obolibrary.org/obo/DOID_0060639	permanent neonatal diabetes mellitus	http://purl.obolibrary.org/obo/DOID_11717	neonatal diabetes mellitus		A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene.
http://purl.obolibrary.org/obo/DOID_0060640	ethylmalonic encephalopathy	http://purl.obolibrary.org/obo/DOID_700	mitochondrial metabolism disease		A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0060641	endocrine-cerebro-osteodysplasia syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has_material_basis_in mutation in the gene encoding intestinal cell kinase.
http://purl.obolibrary.org/obo/DOID_0060642	recessive dystrophic epidermolysis bullosa	http://purl.obolibrary.org/obo/DOID_4959	epidermolysis bullosa dystrophica		An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21.
http://purl.obolibrary.org/obo/DOID_0060643	primary sclerosing cholangitis	http://purl.obolibrary.org/obo/DOID_14268	sclerosing cholangitis		A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension.
http://purl.obolibrary.org/obo/DOID_0060644	chondrodysplasia-pseudohermaphroditism syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia.
http://purl.obolibrary.org/obo/DOID_0060645	chronic recurrent multifocal osteomyelitis	http://purl.obolibrary.org/obo/DOID_1019	osteomyelitis		An osteomyelitis characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine.
http://purl.obolibrary.org/obo/DOID_0060646	congenital chylothorax	http://purl.obolibrary.org/obo/DOID_1532	pleural disease		A pleural disease characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life.
http://purl.obolibrary.org/obo/DOID_0060647	fetal encasement syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin.
http://purl.obolibrary.org/obo/DOID_0060648	anterior segment dysgenesis	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye.
http://purl.obolibrary.org/obo/DOID_0060649	congenital hereditary endothelial dystrophy of cornea	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		A corneal endothelial dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane.
http://purl.obolibrary.org/obo/DOID_0060650	dicarboxylic aminoaciduria	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder that is characterized by an excess urinary excretion of aspartate and glutamate acidic amino acids.
http://purl.obolibrary.org/obo/DOID_0060651	MYH-9 related disease	http://purl.obolibrary.org/obo/DOID_2218	blood platelet disease		A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract.
http://purl.obolibrary.org/obo/DOID_0060652	familial erythrocytosis 1	http://purl.obolibrary.org/obo/DOID_10780	primary polycythemia		A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO.
http://purl.obolibrary.org/obo/DOID_0060653	lethal congenital contracture syndrome 3	http://purl.obolibrary.org/obo/DOID_0060558	lethal congenital contracture syndrome		A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0060654	lethal congenital contracture syndrome 4	http://purl.obolibrary.org/obo/DOID_0060558	lethal congenital contracture syndrome		A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23.
http://purl.obolibrary.org/obo/DOID_0060655	autosomal recessive congenital ichthyosis	http://purl.obolibrary.org/obo/DOID_1697	ichthyosis		An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization.
http://purl.obolibrary.org/obo/DOID_0060656	autosomal recessive congenital ichthyosis 1	http://purl.obolibrary.org/obo/DOID_0060655	autosomal recessive congenital ichthyosis		An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2.
http://purl.obolibrary.org/obo/DOID_0060668	anencephaly	http://purl.obolibrary.org/obo/DOID_2490	congenital nervous system abnormality		A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp.
http://purl.obolibrary.org/obo/DOID_0060669	cerebral cavernous malformation	http://purl.obolibrary.org/obo/DOID_6713	cerebrovascular disease		A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support.
http://purl.obolibrary.org/obo/DOID_0060670	cerebral cavernous malformation 2	http://purl.obolibrary.org/obo/DOID_0060669	cerebral cavernous malformation		A cerebral cavernous malformation that has_material_basis_in mutation in the CCM2 gene on chromosome 7p13.
http://purl.obolibrary.org/obo/DOID_0060671	cerebral cavernous malformation 3	http://purl.obolibrary.org/obo/DOID_0060669	cerebral cavernous malformation		A cerebral cavernous malformation that has_material_basis_in mutation in the PDCD10 gene on chromosome 3q26.1.
http://purl.obolibrary.org/obo/DOID_0060672	frontotemporal dementia 2	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31.
http://purl.obolibrary.org/obo/DOID_0060673	Peters anomaly	http://purl.obolibrary.org/obo/DOID_10124	corneal disease		A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3.
http://purl.obolibrary.org/obo/DOID_0060674	catecholaminergic polymorphic ventricular tachycardia	http://purl.obolibrary.org/obo/DOID_10273	heart conduction disease		A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities.
http://purl.obolibrary.org/obo/DOID_0060675	catecholaminergic polymorphic ventricular tachycardia 1	http://purl.obolibrary.org/obo/DOID_0060674	catecholaminergic polymorphic ventricular tachycardia		A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43.
http://purl.obolibrary.org/obo/DOID_0060676	catecholaminergic polymorphic ventricular tachycardia 2	http://purl.obolibrary.org/obo/DOID_0060674	catecholaminergic polymorphic ventricular tachycardia		A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the CASQ2 gene on chromosome 1p13.
http://purl.obolibrary.org/obo/DOID_0060677	catecholaminergic polymorphic ventricular tachycardia 3	http://purl.obolibrary.org/obo/DOID_0060674	catecholaminergic polymorphic ventricular tachycardia		A catecholaminergic polymorphic ventricular tachycardia that is characterized by early onset mortality and has_material_basis_in variation in the chromosomal region 7p22-p14.
http://purl.obolibrary.org/obo/DOID_0060678	catecholaminergic polymorphic ventricular tachycardia 4	http://purl.obolibrary.org/obo/DOID_0060674	catecholaminergic polymorphic ventricular tachycardia		A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CALM1 gene on chromosome 14q32.
http://purl.obolibrary.org/obo/DOID_0060679	catecholaminergic polymorphic ventricular tachycardia 5	http://purl.obolibrary.org/obo/DOID_0060674	catecholaminergic polymorphic ventricular tachycardia		A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the TRDN gene on chromosome 6q22.
http://purl.obolibrary.org/obo/DOID_0060680	pigment dispersion syndrome	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop glaucoma.
http://purl.obolibrary.org/obo/DOID_0060681	autosomal dominant nocturnal frontal lobe epilepsy	http://purl.obolibrary.org/obo/DOID_3331	frontal lobe epilepsy		A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations.
http://purl.obolibrary.org/obo/DOID_0060682	autosomal dominant nocturnal frontal lobe epilepsy 1	http://purl.obolibrary.org/obo/DOID_0060681	autosomal dominant nocturnal frontal lobe epilepsy		An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13.
http://purl.obolibrary.org/obo/DOID_0060683	autosomal dominant nocturnal frontal lobe epilepsy 2	http://purl.obolibrary.org/obo/DOID_0060681	autosomal dominant nocturnal frontal lobe epilepsy		An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24.
http://purl.obolibrary.org/obo/DOID_0060684	autosomal dominant nocturnal frontal lobe epilepsy 3	http://purl.obolibrary.org/obo/DOID_0060681	autosomal dominant nocturnal frontal lobe epilepsy		An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21.
http://purl.obolibrary.org/obo/DOID_0060685	autosomal dominant nocturnal frontal lobe epilepsy 4	http://purl.obolibrary.org/obo/DOID_0060681	autosomal dominant nocturnal frontal lobe epilepsy		An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21.
http://purl.obolibrary.org/obo/DOID_0060686	autosomal dominant nocturnal frontal lobe epilepsy 5	http://purl.obolibrary.org/obo/DOID_0060681	autosomal dominant nocturnal frontal lobe epilepsy		An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0060688	arteriovenous malformations of the brain	http://purl.obolibrary.org/obo/DOID_6713	cerebrovascular disease		A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain.
http://purl.obolibrary.org/obo/DOID_0060689	atrichia with papular lesions	http://purl.obolibrary.org/obo/DOID_987	alopecia		An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3.
http://purl.obolibrary.org/obo/DOID_0060690	autosomal dominant auditory neuropathy 1	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q.
http://purl.obolibrary.org/obo/DOID_0060691	platelet-type bleeding disorder 16	http://purl.obolibrary.org/obo/DOID_2218	blood platelet disease		A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.
http://purl.obolibrary.org/obo/DOID_0060692	platelet-type bleeding disorder 8	http://purl.obolibrary.org/obo/DOID_2218	blood platelet disease		A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q.
http://purl.obolibrary.org/obo/DOID_0060693	Brunner Syndrome	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder characterized by recessive X-linked inheritance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11.
http://purl.obolibrary.org/obo/DOID_0060694	Cayman type cerebellar ataxia	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3.
http://purl.obolibrary.org/obo/DOID_0060695	hyperekplexia	http://purl.obolibrary.org/obo/DOID_863	nervous system disease		A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia.
http://purl.obolibrary.org/obo/DOID_0060696	hyperekplexia 1	http://purl.obolibrary.org/obo/DOID_0060695	hyperekplexia		A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.
http://purl.obolibrary.org/obo/DOID_0060697	hyperekplexia 2	http://purl.obolibrary.org/obo/DOID_0060695	hyperekplexia		A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32.
http://purl.obolibrary.org/obo/DOID_0060698	hyperekplexia 3	http://purl.obolibrary.org/obo/DOID_0060695	hyperekplexia		A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15.
http://purl.obolibrary.org/obo/DOID_0060699	familial hypocalciuric hypercalcemia	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		A hypercalcemia characterized by autosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion.
http://purl.obolibrary.org/obo/DOID_0060700	familial hypocalciuric hypercalcemia 1	http://purl.obolibrary.org/obo/DOID_0060699	familial hypocalciuric hypercalcemia		A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21.
http://purl.obolibrary.org/obo/DOID_0060701	familial hypocalciuric hypercalcemia 2	http://purl.obolibrary.org/obo/DOID_0060699	familial hypocalciuric hypercalcemia		A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0060702	familial hypocalciuric hypercalcemia 3	http://purl.obolibrary.org/obo/DOID_0060699	familial hypocalciuric hypercalcemia		A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0060703	Muenke Syndrome	http://purl.obolibrary.org/obo/DOID_2340	craniosynostosis		A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3.
http://purl.obolibrary.org/obo/DOID_0060704	lymphoproliferative syndrome	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection.
http://purl.obolibrary.org/obo/DOID_0060705	X-linked lymphoproliferative syndrome 1	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25.
http://purl.obolibrary.org/obo/DOID_0060706	X-linked lymphoproliferative syndrome 2	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25.
http://purl.obolibrary.org/obo/DOID_0060707	lymphoproliferative syndrome 1	http://purl.obolibrary.org/obo/DOID_0060704	lymphoproliferative syndrome		A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32.
http://purl.obolibrary.org/obo/DOID_0060708	lymphoproliferative syndrome 2	http://purl.obolibrary.org/obo/DOID_0060704	lymphoproliferative syndrome		A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13.
http://purl.obolibrary.org/obo/DOID_0060710	autosomal recessive congenital ichthyosis 2	http://purl.obolibrary.org/obo/DOID_0060655	autosomal recessive congenital ichthyosis		An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0060711	autosomal recessive congenital ichthyosis 3	http://purl.obolibrary.org/obo/DOID_0060655	autosomal recessive congenital ichthyosis		An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0060712	autosomal recessive congenital ichthyosis 4A	http://purl.obolibrary.org/obo/DOID_0060655	autosomal recessive congenital ichthyosis		An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35.
http://purl.obolibrary.org/obo/DOID_0060713	autosomal recessive congenital ichthyosis 4B	http://purl.obolibrary.org/obo/DOID_0060655	autosomal recessive congenital ichthyosis		An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35.
http://purl.obolibrary.org/obo/DOID_0060714	autosomal recessive congenital ichthyosis 5	http://purl.obolibrary.org/obo/DOID_0060655	autosomal recessive congenital ichthyosis		An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0060715	autosomal recessive congenital ichthyosis 6	http://purl.obolibrary.org/obo/DOID_0060655	autosomal recessive congenital ichthyosis		An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33.
http://purl.obolibrary.org/obo/DOID_0060716	autosomal recessive congenital ichthyosis 7	http://purl.obolibrary.org/obo/DOID_0060655	autosomal recessive congenital ichthyosis		An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has_material_basis_in variation in the chromosome region 12p11.2-q13.1.
http://purl.obolibrary.org/obo/DOID_0060717	autosomal recessive congenital ichthyosis 8	http://purl.obolibrary.org/obo/DOID_0060655	autosomal recessive congenital ichthyosis		An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23.
http://purl.obolibrary.org/obo/DOID_0060718	autosomal recessive congenital ichthyosis 9	http://purl.obolibrary.org/obo/DOID_0060655	autosomal recessive congenital ichthyosis		An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26.
http://purl.obolibrary.org/obo/DOID_0060719	autosomal recessive congenital ichthyosis 10	http://purl.obolibrary.org/obo/DOID_0060655	autosomal recessive congenital ichthyosis		An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0060720	autosomal recessive congenital ichthyosis 11	http://purl.obolibrary.org/obo/DOID_0060655	autosomal recessive congenital ichthyosis		An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24.
http://purl.obolibrary.org/obo/DOID_0060728	congenital disorder of deglycosylation 1	http://purl.obolibrary.org/obo/DOID_0060991	congenital disorder of deglycosylation		A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 3p24.
http://purl.obolibrary.org/obo/DOID_0060730	torsion dystonia 1	http://purl.obolibrary.org/obo/DOID_0050835	generalized dystonia		A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0060731	congenital central hypoventilation syndrome	http://purl.obolibrary.org/obo/DOID_11465	autonomic nervous system disease		An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes.
http://purl.obolibrary.org/obo/DOID_0060732	chromosome 9p deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9.
http://purl.obolibrary.org/obo/DOID_0060733	junctional epidermolysis bullosa with pyloric atresia	http://purl.obolibrary.org/obo/DOID_3209	junctional epidermolysis bullosa		A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes.
http://purl.obolibrary.org/obo/DOID_0060735	generalized severe epidermolysis bullosa simplex 1A	http://purl.obolibrary.org/obo/DOID_4644	epidermolysis bullosa simplex		An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in the Keratin 14 (KRT14) gene on chromosome 17q21 either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases.
http://purl.obolibrary.org/obo/DOID_0060736	epidermolysis bullosa simplex 5A Ogna type	http://purl.obolibrary.org/obo/DOID_4644	epidermolysis bullosa simplex		An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24.
http://purl.obolibrary.org/obo/DOID_0060737	junctional epidermolysis bullosa Herlitz type	http://purl.obolibrary.org/obo/DOID_3209	junctional epidermolysis bullosa		A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa.
http://purl.obolibrary.org/obo/DOID_0060738	junctional epidermolysis bullosa non-Herlitz type	http://purl.obolibrary.org/obo/DOID_3209	junctional epidermolysis bullosa		A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa.
http://purl.obolibrary.org/obo/DOID_0060739	hand-foot-genital syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.
http://purl.obolibrary.org/obo/DOID_0060740	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	http://purl.obolibrary.org/obo/DOID_14749	methylmalonic acidemia		A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3.
http://purl.obolibrary.org/obo/DOID_0060741	methylmalonic acidemia due to transcobalamin receptor defect	http://purl.obolibrary.org/obo/DOID_14749	methylmalonic acidemia		A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene.
http://purl.obolibrary.org/obo/DOID_0060742	methylmalonic acidemia cblA type	http://purl.obolibrary.org/obo/DOID_14749	methylmalonic acidemia		A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAA gene on chromosome 4q31.
http://purl.obolibrary.org/obo/DOID_0060743	methylmalonic acidemia cblB type	http://purl.obolibrary.org/obo/DOID_14749	methylmalonic acidemia		A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24.
http://purl.obolibrary.org/obo/DOID_0060744	Pendred Syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q.
http://purl.obolibrary.org/obo/DOID_0060745	Doyne honeycomb retinal dystrophy	http://purl.obolibrary.org/obo/DOID_2569	retinal drusen		A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has_material_basis_in mutations in the EFEMP1 gene on chromosome 2p16.
http://purl.obolibrary.org/obo/DOID_0060746	basal laminar drusen	http://purl.obolibrary.org/obo/DOID_2569	retinal drusen		A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3.
http://purl.obolibrary.org/obo/DOID_0060747	Duane-radial ray syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13.
http://purl.obolibrary.org/obo/DOID_0060748	familial temporal lobe epilepsy 1	http://purl.obolibrary.org/obo/DOID_3328	temporal lobe epilepsy		A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24.
http://purl.obolibrary.org/obo/DOID_0060749	familial temporal lobe epilepsy 6	http://purl.obolibrary.org/obo/DOID_3328	temporal lobe epilepsy		A temporal lobe epilepsy that has_material_basis_in variation in the chromosome region 3q25-q26.
http://purl.obolibrary.org/obo/DOID_0060750	familial temporal lobe epilepsy 3	http://purl.obolibrary.org/obo/DOID_3328	temporal lobe epilepsy		A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has_material_basis_in variation in the chromosome region 4q13.2-q21.3.
http://purl.obolibrary.org/obo/DOID_0060751	familial temporal lobe epilepsy 7	http://purl.obolibrary.org/obo/DOID_3328	temporal lobe epilepsy		A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22.
http://purl.obolibrary.org/obo/DOID_0060752	familial temporal lobe epilepsy 5	http://purl.obolibrary.org/obo/DOID_3328	temporal lobe epilepsy		A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13.
http://purl.obolibrary.org/obo/DOID_0060753	familial temporal lobe epilepsy 4	http://purl.obolibrary.org/obo/DOID_3328	temporal lobe epilepsy		A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22.
http://purl.obolibrary.org/obo/DOID_0060754	familial temporal lobe epilepsy 8	http://purl.obolibrary.org/obo/DOID_3328	temporal lobe epilepsy		A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has_material_basis_in heterozygous mutation in the GAL gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0060755	familial temporal lobe epilepsy 2	http://purl.obolibrary.org/obo/DOID_3328	temporal lobe epilepsy		A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has_material_basis_in variation in the chromosome region 12q22-q23.3.
http://purl.obolibrary.org/obo/DOID_0060756	sclerosteosis 1	http://purl.obolibrary.org/obo/DOID_0080036	SOST-related sclerosing bone dysplasia		A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0060757	sclerosteosis 2	http://purl.obolibrary.org/obo/DOID_0060251	sclerosteosis		A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11.
http://purl.obolibrary.org/obo/DOID_0060758	immunodeficiency with hyper-IgM type 2	http://purl.obolibrary.org/obo/DOID_0080544	hyper IgM syndrome		A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13.
http://purl.obolibrary.org/obo/DOID_0060759	immunodeficiency with hyper IgM type 5	http://purl.obolibrary.org/obo/DOID_0080544	hyper IgM syndrome		A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1.
http://purl.obolibrary.org/obo/DOID_0060760	immunodeficiency with hyper-IgM type 4	http://purl.obolibrary.org/obo/DOID_0080544	hyper IgM syndrome		A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process.
http://purl.obolibrary.org/obo/DOID_0060761	familial chronic myelocytic leukemia-like syndrome	http://purl.obolibrary.org/obo/DOID_8552	chronic myeloid leukemia		A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome).
http://purl.obolibrary.org/obo/DOID_0060762	restrictive dermopathy	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life.
http://purl.obolibrary.org/obo/DOID_0060763	X-linked juvenile retinoschisis 1	http://purl.obolibrary.org/obo/DOID_8465	retinoschisis		A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has_material_basis_in the RS1 gene on chromosome Xp22.
http://purl.obolibrary.org/obo/DOID_0060764	autosomal recessive Robinow syndrome	http://purl.obolibrary.org/obo/DOID_0060254	Robinow syndrome		A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22.
http://purl.obolibrary.org/obo/DOID_0060765	autosomal dominant Robinow syndrome 2	http://purl.obolibrary.org/obo/DOID_0060254	Robinow syndrome		A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0060766	autosomal dominant Robinow syndrome 1	http://purl.obolibrary.org/obo/DOID_0060254	Robinow syndrome		A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p.
http://purl.obolibrary.org/obo/DOID_0060767	autosomal dominant Robinow syndrome 3	http://purl.obolibrary.org/obo/DOID_0060254	Robinow syndrome		A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27.
http://purl.obolibrary.org/obo/DOID_0060768	Smith-Magenis syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region.
http://purl.obolibrary.org/obo/DOID_0060769	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	http://purl.obolibrary.org/obo/DOID_627	severe combined immunodeficiency		A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12.
http://purl.obolibrary.org/obo/DOID_0060770	dextro-looped transposition of the great arteries	http://purl.obolibrary.org/obo/DOID_1682	congenital heart disease		A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle.
http://purl.obolibrary.org/obo/DOID_0060772	multiple types of congenital heart defects 6	http://purl.obolibrary.org/obo/DOID_1682	congenital heart disease		A congenital heart disease that is characterized by a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial discordance and that has_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0060773	cleft lip-palate-ectodermal dysplasia syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23.
http://purl.obolibrary.org/obo/DOID_0060774	congenital diarrhea	http://purl.obolibrary.org/obo/DOID_13250	diarrhea		A diarrhea that is characterized by frequent loose or liquid bowel movements where the disease is present from birth.
http://purl.obolibrary.org/obo/DOID_0060775	microvillus inclusion disease	http://purl.obolibrary.org/obo/DOID_0060774	congenital diarrhea		A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21.
http://purl.obolibrary.org/obo/DOID_0060776	congenital diarrhea 5 with tufting enteropathy	http://purl.obolibrary.org/obo/DOID_0060774	congenital diarrhea		A congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum that has_material_basis_in homozygous or compound heterozygous mutation in the EPCAM gene on chromosome 2p21.
http://purl.obolibrary.org/obo/DOID_0060777	congenital secretory sodium diarrhea 8	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15.
http://purl.obolibrary.org/obo/DOID_0060778	congenital diarrhea 7 with exudative enteropathy	http://purl.obolibrary.org/obo/DOID_0060774	congenital diarrhea		A congenital diarrhea characterized by early-onset nonbloody watery diarrhea and unresponsiveness to soy-based or elemental formulas that has_material_basis_in homozygous or compound heterozygous mutation in the DGAT1 gene on chromosome 8q24.
http://purl.obolibrary.org/obo/DOID_0060779	congenital malabsorptive diarrhea 4	http://purl.obolibrary.org/obo/DOID_0060774	congenital diarrhea		A congenital diarrhea characterized by severe intestinal malabsorption and an absence of enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3.
http://purl.obolibrary.org/obo/DOID_0060780	congenital diarrhea 6	http://purl.obolibrary.org/obo/DOID_0060774	congenital diarrhea		A congenital diarrhea characterized by mild, early-onset chronic diarrhea that has_material_basis_in heterozygous mutation in the GUCY2C gene on chromosome 12p12.
http://purl.obolibrary.org/obo/DOID_0060781	congenital secretory sodium diarrhea 3	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0060782	EEC syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate).
http://purl.obolibrary.org/obo/DOID_0060783	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	http://purl.obolibrary.org/obo/DOID_0060782	EEC syndrome		An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.
http://purl.obolibrary.org/obo/DOID_0060784	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1	http://purl.obolibrary.org/obo/DOID_0060782	EEC syndrome		An EEC syndrome characterized by autosomal dominant inheritance that has_material_basis_in variation in the chromosome region 7q11.2-q21.3.
http://purl.obolibrary.org/obo/DOID_0060785	typical adult-onset autosomal dominant demyelinating leukodystrophy	http://purl.obolibrary.org/obo/DOID_0051015	adult onset demyelinating leukodystrophy		An adult onset demyelinating leukodystrophy characterized by autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS, presenting in the fourth or fifth decade of life, and that has_material_basis_in a heterozygous tandem genomic duplication on chromosome 5q23 that results in an extra copy of the lamin B1 gene (LMNB1), but also alters regulatory sequences that affect expression of other genes.
http://purl.obolibrary.org/obo/DOID_0060786	hypomyelinating leukodystrophy	http://purl.obolibrary.org/obo/DOID_10579	leukodystrophy		A leukodystrophy characterized by improper formation of the myelin sheath in the central nervous system resulting in T2 hyperintensity and variable T1 signal on magnetic resonance imaging.
http://purl.obolibrary.org/obo/DOID_0060787	hypomyelinating leukodystrophy 2	http://purl.obolibrary.org/obo/DOID_0060786	hypomyelinating leukodystrophy		A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42.
http://purl.obolibrary.org/obo/DOID_0060788	hypomyelinating leukodystrophy 10	http://purl.obolibrary.org/obo/DOID_0060786	hypomyelinating leukodystrophy		A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome 1q42.
http://purl.obolibrary.org/obo/DOID_0060789	hypomyelinating leukodystrophy 4	http://purl.obolibrary.org/obo/DOID_0060786	hypomyelinating leukodystrophy		A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33.
http://purl.obolibrary.org/obo/DOID_0060790	hypomyelinating leukodystrophy 3	http://purl.obolibrary.org/obo/DOID_0060786	hypomyelinating leukodystrophy		A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24.
http://purl.obolibrary.org/obo/DOID_0060791	hypomyelinating leukodystrophy 9	http://purl.obolibrary.org/obo/DOID_0060786	hypomyelinating leukodystrophy		A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34.
http://purl.obolibrary.org/obo/DOID_0060792	hypomyelinating leukodystrophy 11	http://purl.obolibrary.org/obo/DOID_0060786	hypomyelinating leukodystrophy		A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0060793	hypomyelinating leukodystrophy 5	http://purl.obolibrary.org/obo/DOID_0060786	hypomyelinating leukodystrophy		A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15.
http://purl.obolibrary.org/obo/DOID_0060794	hypomyelinating leukodystrophy 7	http://purl.obolibrary.org/obo/DOID_0060786	hypomyelinating leukodystrophy		A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22.
http://purl.obolibrary.org/obo/DOID_0060795	hypomyelinating leukodystrophy 13	http://purl.obolibrary.org/obo/DOID_0060786	hypomyelinating leukodystrophy		A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the C11ORF73 gene on chromosome 11q14.
http://purl.obolibrary.org/obo/DOID_0060796	hypomyelinating leukodystrophy 12	http://purl.obolibrary.org/obo/DOID_0060786	hypomyelinating leukodystrophy		A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23.
http://purl.obolibrary.org/obo/DOID_0060797	hypomyelinating leukodystrophy 8	http://purl.obolibrary.org/obo/DOID_0060786	hypomyelinating leukodystrophy		A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23.
http://purl.obolibrary.org/obo/DOID_0060798	hypomyelinating leukodystrophy 6	http://purl.obolibrary.org/obo/DOID_0060786	hypomyelinating leukodystrophy		A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0060799	syndromic X-linked intellectual disability Lubs type	http://purl.obolibrary.org/obo/DOID_0060429	chromosomal duplication syndrome		A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0060800	syndromic X-linked intellectual disability 5	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22.
http://purl.obolibrary.org/obo/DOID_0060801	MEHMO syndrome	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in hemizygous mutation in the EIF2S3 gene on chromosome Xp22.
http://purl.obolibrary.org/obo/DOID_0060802	syndromic X-linked intellectual disability Snyder type	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22.
http://purl.obolibrary.org/obo/DOID_0060803	syndromic X-linked intellectual disability 17	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23.
http://purl.obolibrary.org/obo/DOID_0060804	syndromic X-linked intellectual disability 12	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has_material_basis_in variation in the chromosome region Xp11.
http://purl.obolibrary.org/obo/DOID_0060805	Prieto syndrome	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in hemizygous mutation in the WNK3 gene on chromosome Xp11.
http://purl.obolibrary.org/obo/DOID_0060806	syndromic X-linked intellectual disability Hedera type	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11.
http://purl.obolibrary.org/obo/DOID_0060807	syndromic X-linked intellectual disability Najm type	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11.
http://purl.obolibrary.org/obo/DOID_0060808	syndromic X-linked intellectual disability 7	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked intellectual disability characterized by intellectual deficit, obesity, hypogonadism, and tapering fingers that has_material_basis_in variation in the chromosome region Xp11.3-q22.
http://purl.obolibrary.org/obo/DOID_0060809	syndromic X-linked intellectual disability Claes-Jensen type	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioral problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11.
http://purl.obolibrary.org/obo/DOID_0060810	syndromic X-linked intellectual disability type 10	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22.
http://purl.obolibrary.org/obo/DOID_0060811	syndromic X-linked intellectual disability Turner type	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22.
http://purl.obolibrary.org/obo/DOID_0060812	syndromic X-linked intellectual disability Siderius type	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22.
http://purl.obolibrary.org/obo/DOID_0060813	syndromic X-linked intellectual disability Shrimpton type	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has_material_basis_in variation in the chromosomal region Xq12-q21.31.
http://purl.obolibrary.org/obo/DOID_0060814	Wilson-Turner syndrome	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12.
http://purl.obolibrary.org/obo/DOID_0060815	Wieacker-Wolff syndrome	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22.
http://purl.obolibrary.org/obo/DOID_0060816	corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1.
http://purl.obolibrary.org/obo/DOID_0060817	syndromic X-linked intellectual disability 34	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the NONO gene on chromosome Xq13.
http://purl.obolibrary.org/obo/DOID_0060818	syndromic X-linked intellectual disability Abidi type	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked intellectual disability characterized by intellectual disability with variable occurrence of short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes that has_material_basis_in variation in the chromosomal region Xq13.2.
http://purl.obolibrary.org/obo/DOID_0060819	syndromic X-linked intellectual disability Chudley-Schwartz type	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23.
http://purl.obolibrary.org/obo/DOID_0060820	syndromic X-linked intellectual disability Nascimento type	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24.
http://purl.obolibrary.org/obo/DOID_0060821	syndromic X-linked intellectual disability 14	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24.
http://purl.obolibrary.org/obo/DOID_0060822	syndromic X-linked intellectual disability Cabezas type	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and abnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq24.
http://purl.obolibrary.org/obo/DOID_0060823	syndromic X-linked intellectual disability 94	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25.
http://purl.obolibrary.org/obo/DOID_0060824	syndromic X-linked intellectual disability Raymond type	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has_material_basis_in mutation in the ZDHHC9 gene on chromosome Xq26.1.
http://purl.obolibrary.org/obo/DOID_0060825	Christianson syndrome	http://purl.obolibrary.org/obo/DOID_0080009	X-linked dominant disease		A syndromic X-linked intellectual disability characterized by microcephaly, impaired ocular movements, progressive severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types that has_material_basis_in mutation in hemizygous mutation in the SLC9A6 gene on chromosome Xq26.
http://purl.obolibrary.org/obo/DOID_0060826	syndromic X-linked intellectual disability Shashi type	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26.
http://purl.obolibrary.org/obo/DOID_0060827	X-linked intellectual disability-psychosis-macroorchidism syndrome	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0060828	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0060830	deafness-intellectual disability, Martin-Probst type syndrome	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome.
http://purl.obolibrary.org/obo/DOID_0060831	Griscelli syndrome	http://purl.obolibrary.org/obo/DOID_16	integumentary system disease		An integumentary system disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin.
http://purl.obolibrary.org/obo/DOID_0060832	Griscelli syndrome type 1	http://purl.obolibrary.org/obo/DOID_0060831	Griscelli syndrome		A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2.
http://purl.obolibrary.org/obo/DOID_0060833	Griscelli syndrome type 2	http://purl.obolibrary.org/obo/DOID_0060831	Griscelli syndrome		A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3.
http://purl.obolibrary.org/obo/DOID_0060834	Griscelli syndrome type 3	http://purl.obolibrary.org/obo/DOID_0060831	Griscelli syndrome		A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has_material_basis_in mutation in the MLPH or MYO5A genes.
http://purl.obolibrary.org/obo/DOID_0060835	isolated microphthalmia 6	http://purl.obolibrary.org/obo/DOID_0080637	isolated microphthalmia		An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37.
http://purl.obolibrary.org/obo/DOID_0060836	isolated microphthalmia 4	http://purl.obolibrary.org/obo/DOID_0080637	isolated microphthalmia		An isolated microphthalmia that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22.
http://purl.obolibrary.org/obo/DOID_0060837	isolated microphthalmia 5	http://purl.obolibrary.org/obo/DOID_0080637	isolated microphthalmia		An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23.
http://purl.obolibrary.org/obo/DOID_0060838	isolated microphthalmia 7	http://purl.obolibrary.org/obo/DOID_0080637	isolated microphthalmia		An isolated microphthalmia characterized by unilateral microphthalmia that has_material_basis_in caused by mutation in the GDF3 gene on chromosome 12p13.
http://purl.obolibrary.org/obo/DOID_0060839	isolated microphthalmia 2	http://purl.obolibrary.org/obo/DOID_0080637	isolated microphthalmia		An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24.
http://purl.obolibrary.org/obo/DOID_0060840	isolated microphthalmia 1	http://purl.obolibrary.org/obo/DOID_0080637	isolated microphthalmia		An isolated microphthalmia that has_material_basis_in variation in the chromosomal region 14q32.
http://purl.obolibrary.org/obo/DOID_0060841	isolated microphthalmia 8	http://purl.obolibrary.org/obo/DOID_0080637	isolated microphthalmia		An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26.
http://purl.obolibrary.org/obo/DOID_0060842	syndromic microphthalmia 16	http://purl.obolibrary.org/obo/DOID_0080637	isolated microphthalmia		An isolated microphthalmia that is characterized by bilateral severe microphthalmia or anophthalmia with variable presence of midline defects, including cleft lip and palate, absence of frontal and/or sphenoidal sinuses, and absent pituitary gland and that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21.
http://purl.obolibrary.org/obo/DOID_0060843	hereditary neuropathy with liability to pressure palsies	http://purl.obolibrary.org/obo/DOID_870	neuropathy		A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12.
http://purl.obolibrary.org/obo/DOID_0060844	Norrie disease	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11.
http://purl.obolibrary.org/obo/DOID_0060847	Leri-Weill dyschondrosteosis	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain.
http://purl.obolibrary.org/obo/DOID_0060848	developmental and epileptic encephalopathy 9	http://purl.obolibrary.org/obo/DOID_0080009	X-linked dominant disease		A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22.
http://purl.obolibrary.org/obo/DOID_0060849	osteoporosis-pseudoglioma syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0060850	annular pancreas	http://purl.obolibrary.org/obo/DOID_26	pancreas disease		A pancreas disease characterized by autosomal dominant inheritance of the annular pancreas (head of the pancreas forming a ring around the second portion of the duodenum) and duodenal stenosis.
http://purl.obolibrary.org/obo/DOID_0060851	pemphigus vulgaris	http://purl.obolibrary.org/obo/DOID_9182	pemphigus		A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance.
http://purl.obolibrary.org/obo/DOID_0060852	Pierson syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p21.
http://purl.obolibrary.org/obo/DOID_0060853	Potocki-Lupski syndrome	http://purl.obolibrary.org/obo/DOID_0060429	chromosomal duplication syndrome		A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in contiguous gene syndrome caused by duplication of chromosome 17p11.2.
http://purl.obolibrary.org/obo/DOID_0060854	autosomal recessive pseudohypoaldosteronism type 1	http://purl.obolibrary.org/obo/DOID_4479	pseudohypoaldosteronism		A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G.
http://purl.obolibrary.org/obo/DOID_0060855	autosomal dominant pseudohypoaldosteronism type 1	http://purl.obolibrary.org/obo/DOID_4479	pseudohypoaldosteronism		A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31.
http://purl.obolibrary.org/obo/DOID_0060856	right atrial isomerism	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A visceral heterotaxy that is characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12.
http://purl.obolibrary.org/obo/DOID_0060857	septooptic dysplasia	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the homeobox gene HESX1 on chromosome 3p14.
http://purl.obolibrary.org/obo/DOID_0060858	hypotonia-cystinuria syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.
http://purl.obolibrary.org/obo/DOID_0060859	salmonellosis	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease caused by the bacteria of the genus Salmonella. It has symptoms diarrhea, fever, vomiting, and abdominal cramps 12 to 72 hours after infection. In most cases, the illness lasts four to seven days, and most people recover without treatment.
http://purl.obolibrary.org/obo/DOID_0060861	microphthalmia with limb anomalies	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24.
http://purl.obolibrary.org/obo/DOID_0060862	mal de Meleda	http://purl.obolibrary.org/obo/DOID_3390	palmoplantar keratosis		A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has_material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24.
http://purl.obolibrary.org/obo/DOID_0060863	patterned macular dystrophy	http://purl.obolibrary.org/obo/DOID_4448	macular degeneration		A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped.
http://purl.obolibrary.org/obo/DOID_0060864	patterned macular dystrophy 2	http://purl.obolibrary.org/obo/DOID_0060863	patterned macular dystrophy		A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31.
http://purl.obolibrary.org/obo/DOID_0060865	patterned macular dystrophy 3	http://purl.obolibrary.org/obo/DOID_0060863	patterned macular dystrophy		A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has_material_basis_in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21.
http://purl.obolibrary.org/obo/DOID_0060866	patterned macular dystrophy 1	http://purl.obolibrary.org/obo/DOID_0060863	patterned macular dystrophy		A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the PRPH2 gene on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0060867	macrocephaly-autism syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has_material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23.
http://purl.obolibrary.org/obo/DOID_0060868	leukoencephalopathy with vanishing white matter	http://purl.obolibrary.org/obo/DOID_10579	leukodystrophy		A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood.
http://purl.obolibrary.org/obo/DOID_0060869	late-onset retinal degeneration	http://purl.obolibrary.org/obo/DOID_8466	retinal degeneration		A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has_material_basis_in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23.
http://purl.obolibrary.org/obo/DOID_0060870	isolated growth hormone deficiency	http://purl.obolibrary.org/obo/DOID_9406	hypopituitarism		A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones.
http://purl.obolibrary.org/obo/DOID_0060871	autosomal dominant keratitis-ichthyosis-deafness syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q.
http://purl.obolibrary.org/obo/DOID_0060872	isolated growth hormone deficiency type II	http://purl.obolibrary.org/obo/DOID_0060870	isolated growth hormone deficiency		An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has_material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3.
http://purl.obolibrary.org/obo/DOID_0060873	isolated growth hormone deficiency type IA	http://purl.obolibrary.org/obo/DOID_0060870	isolated growth hormone deficiency		An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null mutations in the GH1 gene on chromosome 17q23.3.
http://purl.obolibrary.org/obo/DOID_0060874	isolated growth hormone deficiency type IB	http://purl.obolibrary.org/obo/DOID_0060870	isolated growth hormone deficiency		An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.
http://purl.obolibrary.org/obo/DOID_0060875	isolated growth hormone deficiency type III	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the BTK gene on chromosome Xq22.1.
http://purl.obolibrary.org/obo/DOID_0060877	bullous congenital ichthyosiform erythroderma	http://purl.obolibrary.org/obo/DOID_1697	ichthyosis		An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0060878	hypoparathyroidism-deafness-renal disease syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14.
http://purl.obolibrary.org/obo/DOID_0060879	primary hypomagnesemia	http://purl.obolibrary.org/obo/DOID_896	metal metabolism disorder		A metal metabolism disorder characterized by very low serum magnesium levels often with secondary hypocalcemia with onset typically in the first months of life.
http://purl.obolibrary.org/obo/DOID_0060880	renal hypomagnesemia 3	http://purl.obolibrary.org/obo/DOID_0060879	primary hypomagnesemia		A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28.
http://purl.obolibrary.org/obo/DOID_0060881	renal hypomagnesemia 5 with ocular involvement	http://purl.obolibrary.org/obo/DOID_0060879	primary hypomagnesemia		A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has_material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2.
http://purl.obolibrary.org/obo/DOID_0060882	renal hypomagnesemia 4	http://purl.obolibrary.org/obo/DOID_0060879	primary hypomagnesemia		A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that has_material_basis_in homozygous mutation in the EGF gene on chromosome 4q25.
http://purl.obolibrary.org/obo/DOID_0060883	intestinal hypomagnesemia 1	http://purl.obolibrary.org/obo/DOID_0060879	primary hypomagnesemia		A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorption and kidney excretion and secondary hypocalcemia that has_material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21.
http://purl.obolibrary.org/obo/DOID_0060884	renal hypomagnesemia 6	http://purl.obolibrary.org/obo/DOID_0060879	primary hypomagnesemia		A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that has_material_basis_in heterozygous mutation in the CNNM2 gene on chromosome 10q24.
http://purl.obolibrary.org/obo/DOID_0060885	renal hypomagnesemia 2	http://purl.obolibrary.org/obo/DOID_0060879	primary hypomagnesemia		A hypomagnesemia characterized by autosomal dominant inheritance of hypomagnesemia due to renal magnesium loss that has_material_basis_in heterozygous mutation in the FXYD2 gene on chromosome 11q23.
http://purl.obolibrary.org/obo/DOID_0070003	blastoma	http://purl.obolibrary.org/obo/DOID_0050687	cell type cancer		A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from precursor cells called blast cells.
http://purl.obolibrary.org/obo/DOID_0070004	myeloid neoplasm	http://purl.obolibrary.org/obo/DOID_4960	bone marrow cancer		A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages.
http://purl.obolibrary.org/obo/DOID_0080000	muscular disease	http://purl.obolibrary.org/obo/DOID_17	musculoskeletal system disease		A musculoskeletal system disease that affects the muscles.
http://purl.obolibrary.org/obo/DOID_0080001	bone disease	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.
http://purl.obolibrary.org/obo/DOID_0080005	bone remodeling disease	http://purl.obolibrary.org/obo/DOID_0080001	bone disease		A bone disease that results_in formation or resorption abnormalities located_in bone.
http://purl.obolibrary.org/obo/DOID_0080006	bone development disease	http://purl.obolibrary.org/obo/DOID_0080001	bone disease		A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage.
http://purl.obolibrary.org/obo/DOID_0080007	bone deterioration disease	http://purl.obolibrary.org/obo/DOID_0080010	bone structure disease		A bone structure disease that results_in change or damage of structure located_in bone.
http://purl.obolibrary.org/obo/DOID_0080008	ischemic bone disease	http://purl.obolibrary.org/obo/DOID_0080001	bone disease		A bone disease that results_in an interruption of blood supply located_in bone.
http://purl.obolibrary.org/obo/DOID_0080009	X-linked dominant disease	http://purl.obolibrary.org/obo/DOID_0050735	X-linked monogenic disease		A X-linked monogenic disease that has_material_basis_in dominant inheritance.
http://purl.obolibrary.org/obo/DOID_0080010	bone structure disease	http://purl.obolibrary.org/obo/DOID_0080001	bone disease		A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure.
http://purl.obolibrary.org/obo/DOID_0080011	bone resorption disease	http://purl.obolibrary.org/obo/DOID_0080005	bone remodeling disease		A bone remodeling disease that results in an abnormal decrease of bone density or mass.
http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease	http://purl.obolibrary.org/obo/DOID_0050735	X-linked monogenic disease		A X-linked monogenic disease that has_material_basis_in recessive inheritance.
http://purl.obolibrary.org/obo/DOID_0080014	chromosomal disease	http://purl.obolibrary.org/obo/DOID_630	genetic disease		A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.
http://purl.obolibrary.org/obo/DOID_0080015	physical disorder	http://purl.obolibrary.org/obo/DOID_4	disease		A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
http://purl.obolibrary.org/obo/DOID_0080016	spina bifida	http://purl.obolibrary.org/obo/DOID_0080074	neural tube defect		A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development.
http://purl.obolibrary.org/obo/DOID_0080018	dysbaric osteonecrosis	http://purl.obolibrary.org/obo/DOID_0080008	ischemic bone disease		An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone.
http://purl.obolibrary.org/obo/DOID_0080019	metaphyseal dysplasia	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that is characterized by abnormally broad ends of the arm and leg long bones resembling a boat oar or paddle due to enlargement of the spongy inner layer of bone.
http://purl.obolibrary.org/obo/DOID_0080020	Jansen's metaphyseal chondrodysplasia	http://purl.obolibrary.org/obo/DOID_0080019	metaphyseal dysplasia		A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism.
http://purl.obolibrary.org/obo/DOID_0080021	Schmid metaphyseal chondrodysplasia	http://purl.obolibrary.org/obo/DOID_0080019	metaphyseal dysplasia		A metaphyseal dysplasia that results_in dwarfism and bowed legs.
http://purl.obolibrary.org/obo/DOID_0080026	otospondylomegaepiphyseal dysplasia, autosomal recessive	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that results from mutations autosomal recessive inheritance of mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss.
http://purl.obolibrary.org/obo/DOID_0080027	spondyloepimetaphyseal dysplasia	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis.
http://purl.obolibrary.org/obo/DOID_0080028	spondyloepimetaphyseal dysplasia, Strudwick type	http://purl.obolibrary.org/obo/DOID_0080027	spondyloepimetaphyseal dysplasia		A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).
http://purl.obolibrary.org/obo/DOID_0080029	autosomal recessive spinocerebellar ataxia 16	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has_material_basis_in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13.
http://purl.obolibrary.org/obo/DOID_0080030	spondyloepimetaphyseal dysplasia, Missouri type	http://purl.obolibrary.org/obo/DOID_0080027	spondyloepimetaphyseal dysplasia		A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities.
http://purl.obolibrary.org/obo/DOID_0080031	fibrous dysplasia	http://purl.obolibrary.org/obo/DOID_0080005	bone remodeling disease		A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue.
http://purl.obolibrary.org/obo/DOID_0080032	craniodiaphyseal dysplasia	http://purl.obolibrary.org/obo/DOID_4254	osteosclerosis		An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal.
http://purl.obolibrary.org/obo/DOID_0080033	craniometaphyseal dysplasia	http://purl.obolibrary.org/obo/DOID_4254	osteosclerosis		An osteosclerosis that is characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses.
http://purl.obolibrary.org/obo/DOID_0080036	SOST-related sclerosing bone dysplasia	http://purl.obolibrary.org/obo/DOID_205	hyperostosis		A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull.
http://purl.obolibrary.org/obo/DOID_0080037	Worth syndrome	http://purl.obolibrary.org/obo/DOID_205	hyperostosis		A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate.
http://purl.obolibrary.org/obo/DOID_0080038	pycnodysostosis	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges.
http://purl.obolibrary.org/obo/DOID_0080039	axial osteomalacia	http://purl.obolibrary.org/obo/DOID_4254	osteosclerosis		An osteosclerosis that results_in coarsening located_in trabecular bone.
http://purl.obolibrary.org/obo/DOID_0080040	fibrogenesis imperfecta ossium	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures.
http://purl.obolibrary.org/obo/DOID_0080041	hypochondroplasia	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.
http://purl.obolibrary.org/obo/DOID_0080042	autosomal recessive spinocerebellar ataxia 18	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the GRID2 gene on chromosome 4q22.
http://purl.obolibrary.org/obo/DOID_0080043	achondrogenesis	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disproportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period.
http://purl.obolibrary.org/obo/DOID_0080044	hypochondrogenesis	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen.
http://purl.obolibrary.org/obo/DOID_0080045	Kniest dysplasia	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face.
http://purl.obolibrary.org/obo/DOID_0080046	Stickler syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems.
http://purl.obolibrary.org/obo/DOID_0080047	pseudoachondroplasia	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism.
http://purl.obolibrary.org/obo/DOID_0080049	acromesomelic dysplasia	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that is characterized by mesomelia and acromelia, which results_in short limb dwarfism.
http://purl.obolibrary.org/obo/DOID_0080050	acromesomelic dysplasia, Maroteaux type	http://purl.obolibrary.org/obo/DOID_0080049	acromesomelic dysplasia		An acromesomelic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the NPR2 gene, which encodes natriuretic peptide receptor B, on chromosome 9p13.
http://purl.obolibrary.org/obo/DOID_0080051	acromesomelic dysplasia, Hunter-Thompson type	http://purl.obolibrary.org/obo/DOID_0080049	acromesomelic dysplasia		An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot.
http://purl.obolibrary.org/obo/DOID_0080052	acromesomelic dysplasia, Grebe type	http://purl.obolibrary.org/obo/DOID_0080049	acromesomelic dysplasia		An acromesomelic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDMP1 gene on chromosome 20q11.
http://purl.obolibrary.org/obo/DOID_0080053	pseudohypoparathyroidism type 1A	http://purl.obolibrary.org/obo/DOID_4184	pseudohypoparathyroidism		A pseudohypoparathyroidism that characterized by shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, rounded face, and lack of responsiveness to parathyroid hormone that has_material_basis_in a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene on the maternal allele. This results in expression of the Gs-alpha protein only from the paternal allele.
http://purl.obolibrary.org/obo/DOID_0080054	achondrogenesis type IA	http://purl.obolibrary.org/obo/DOID_0080043	achondrogenesis		An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine.
http://purl.obolibrary.org/obo/DOID_0080055	achondrogenesis type IB	http://purl.obolibrary.org/obo/DOID_0080043	achondrogenesis		An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen.
http://purl.obolibrary.org/obo/DOID_0080056	achondrogenesis type II	http://purl.obolibrary.org/obo/DOID_0080043	achondrogenesis		An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis.
http://purl.obolibrary.org/obo/DOID_0080057	autosomal recessive spinocerebellar ataxia 15	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the RUBCN gene on chromosome 3q29.
http://purl.obolibrary.org/obo/DOID_0080058	autosomal recessive spinocerebellar ataxia 14	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has_material_basis_in homozygous mutation in the SPTBN2 gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0080059	autosomal recessive spinocerebellar ataxia 7	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the TPP1 gene on chromosome 11p15.
http://purl.obolibrary.org/obo/DOID_0080060	autosomal recessive spinocerebellar ataxia 12	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the WWOX gene on chromosome 16q23.
http://purl.obolibrary.org/obo/DOID_0080061	autosomal recessive spinocerebellar ataxia 2	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0080062	autosomal recessive spinocerebellar ataxia 13	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development beginning in infancy and that has_material_basis_in homozygous mutation in the GRM1 gene on chromosome 6q24.
http://purl.obolibrary.org/obo/DOID_0080063	autosomal recessive spinocerebellar ataxia 11	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the SYT14 gene on chromosome 1q32.
http://purl.obolibrary.org/obo/DOID_0080064	autosomal recessive spinocerebellar ataxia 17	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CWF19L1 gene on chromosome 10q24.
http://purl.obolibrary.org/obo/DOID_0080065	autosomal recessive spinocerebellar ataxia 19	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia that is characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia and that has_material_basis_in homozygous mutation in the SLC9A1 gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0080066	autosomal recessive spinocerebellar ataxia 20	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14.
http://purl.obolibrary.org/obo/DOID_0080067	Charcot-Marie-Tooth disease type 5	http://purl.obolibrary.org/obo/DOID_10595	Charcot-Marie-Tooth disease		A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait.
http://purl.obolibrary.org/obo/DOID_0080068	Charcot-Marie-Tooth disease type 6	http://purl.obolibrary.org/obo/DOID_10595	Charcot-Marie-Tooth disease		A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity.
http://purl.obolibrary.org/obo/DOID_0080069	Charcot-Marie-Tooth disease type 7	http://purl.obolibrary.org/obo/DOID_10595	Charcot-Marie-Tooth disease		A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa.
http://purl.obolibrary.org/obo/DOID_0080070	mucolipidosis II alpha/beta	http://purl.obolibrary.org/obo/DOID_0080488	mucolipidosis		A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene.
http://purl.obolibrary.org/obo/DOID_0080071	mucolipidosis III alpha/beta	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase.
http://purl.obolibrary.org/obo/DOID_0080072	intestinal pseudo-obstruction	http://purl.obolibrary.org/obo/DOID_5353	colonic disease		A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract.
http://purl.obolibrary.org/obo/DOID_0080073	spina bifida occulta	http://purl.obolibrary.org/obo/DOID_0080016	spina bifida		A spina bifida that is characterized by minor splits in the vertebrae where the outer part of some of the vertebrae is not completely closed.
http://purl.obolibrary.org/obo/DOID_0080074	neural tube defect	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		A physical disorder characterized by incomplete closure of the neural tube.
http://purl.obolibrary.org/obo/DOID_0080075	Neu-Laxova syndrome 2	http://purl.obolibrary.org/obo/DOID_0050721	serine deficiency		A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PSAT1 gene on chromosome 9q21.1, causing issues producing the amino acid serine.
http://purl.obolibrary.org/obo/DOID_0080076	Neu-Laxova syndrome 1	http://purl.obolibrary.org/obo/DOID_0050721	serine deficiency		A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PHGDH gene on chromosome 1p12, causing issues producing the amino acid serine.
http://purl.obolibrary.org/obo/DOID_0080077	hypophosphatemic nephrolithiasis/osteoporosis 1	http://purl.obolibrary.org/obo/DOID_0080655	hypophosphatemic nephrolithiasis/osteoporosis		A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC34A1 gene on chromosome 5q35.
http://purl.obolibrary.org/obo/DOID_0080078	hypophosphatemic nephrolithiasis/osteoporosis 2	http://purl.obolibrary.org/obo/DOID_0080655	hypophosphatemic nephrolithiasis/osteoporosis		A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC9A3R1 gene on chromosome 17q25.1.
http://purl.obolibrary.org/obo/DOID_0080079	nonsyndromic congenital nail disorder 1	http://purl.obolibrary.org/obo/DOID_0080683	nonsyndromic congenital nail disorder		A nonsyndromic congenital nail disorder that is characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough, sand paper-like appearance.
http://purl.obolibrary.org/obo/DOID_0080080	nonsyndromic congenital nail disorder 2	http://purl.obolibrary.org/obo/DOID_0080683	nonsyndromic congenital nail disorder		A nonsyndromic congenital nail disorder that is characterized by nails that are abnormally thin and concave from side to side, with turned up edges.
http://purl.obolibrary.org/obo/DOID_0080081	nonsyndromic congenital nail disorder 3	http://purl.obolibrary.org/obo/DOID_0080683	nonsyndromic congenital nail disorder		A nonsyndromic congenital nail disorder that is characterized by white discoloration of the nails.
http://purl.obolibrary.org/obo/DOID_0080082	nonsyndromic congenital nail disorder 4	http://purl.obolibrary.org/obo/DOID_0080683	nonsyndromic congenital nail disorder		A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13.
http://purl.obolibrary.org/obo/DOID_0080083	nonsyndromic congenital nail disorder 5	http://purl.obolibrary.org/obo/DOID_0080683	nonsyndromic congenital nail disorder		A nonsyndromic congenital nail disorder that is characterized by a decreased growth rate, thick and hard nails, and a straight or concave proximal edge of detachment.
http://purl.obolibrary.org/obo/DOID_0080084	nonsyndromic congenital nail disorder 6	http://purl.obolibrary.org/obo/DOID_0080683	nonsyndromic congenital nail disorder		A nonsyndromic congenital nail disorder that is characterized by partial absences of nails.
http://purl.obolibrary.org/obo/DOID_0080085	nonsyndromic congenital nail disorder 7	http://purl.obolibrary.org/obo/DOID_0080683	nonsyndromic congenital nail disorder		A nonsyndromic congenital nail disorder that is characterized by nails with longi- tudinal streaks, thinning of the nail plate, poorly developed or absent lunulae, along with variously disturbed formation of the nail plate leading to increased vulnerability of the free nail margins.
http://purl.obolibrary.org/obo/DOID_0080086	nonsyndromic congenital nail disorder 8	http://purl.obolibrary.org/obo/DOID_0080683	nonsyndromic congenital nail disorder		A nonsyndromic congenital nail disorder that is characterized by dystrophy of the toenails only.
http://purl.obolibrary.org/obo/DOID_0080087	nonsyndromic congenital nail disorder 9	http://purl.obolibrary.org/obo/DOID_0080683	nonsyndromic congenital nail disorder		A nonsyndromic congenital nail disorder that is characterized by normal nails at birth with dystrophic changes developing within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails.
http://purl.obolibrary.org/obo/DOID_0080089	tubular aggregate myopathy 1	http://purl.obolibrary.org/obo/DOID_423	myopathy		A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the STIM1 gene on chromosome 11p15.
http://purl.obolibrary.org/obo/DOID_0080090	reducing body myopathy 1A	http://purl.obolibrary.org/obo/DOID_423	myopathy		A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with infantile or early childhood onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26.
http://purl.obolibrary.org/obo/DOID_0080092	myofibrillar myopathy 1	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35.
http://purl.obolibrary.org/obo/DOID_0080093	adult-onset myofibrillar myopathy 2A	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23.
http://purl.obolibrary.org/obo/DOID_0080094	myofibrillar myopathy 3	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31.
http://purl.obolibrary.org/obo/DOID_0080095	myofibrillar myopathy 4	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the ZASP gene on chromosome 10.
http://purl.obolibrary.org/obo/DOID_0080096	myofibrillar myopathy 5	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32.
http://purl.obolibrary.org/obo/DOID_0080097	myofibrillar myopathy 6	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A myofibrillar myopathy that is characterized by onset in the first decade of progressive generalized and proximal muscle weakness, respiratory insufficiency, cardiomyopathy, and skeletal deformities related to muscle weakness and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26.
http://purl.obolibrary.org/obo/DOID_0080098	myofibrillar myopathy 7	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A myofibrillar myopathy that has_material_basis_in homozygous mutation in the KY gene on chromosome 3q22.
http://purl.obolibrary.org/obo/DOID_0080099	myopathy, lactic acidosis, and sideroblastic anemia	http://purl.obolibrary.org/obo/DOID_699	mitochondrial myopathy		A mitochondrial myopathy that is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.
http://purl.obolibrary.org/obo/DOID_0080101	Compton-North congenital myopathy	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy that has_material_basis_in homozygous mutation in the CNTN1 gene on chromosome 12q12 and that is characterized antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels.
http://purl.obolibrary.org/obo/DOID_0080102	congenital myopathy 4A	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs.
http://purl.obolibrary.org/obo/DOID_0080103	cylindrical spirals myopathy	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy that is characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions.
http://purl.obolibrary.org/obo/DOID_0080105	microcephaly and chorioretinopathy 1	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene.
http://purl.obolibrary.org/obo/DOID_0080106	microcephaly and chorioretinopathy 2	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has_material_basis_in homozygous mutation in the PLK4 gene.
http://purl.obolibrary.org/obo/DOID_0080107	microcephaly and chorioretinopathy 3	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has_material_basis_in compound heterozygous mutation in the TUBGCP4 gene.
http://purl.obolibrary.org/obo/DOID_0080108	myoglobinuria	http://purl.obolibrary.org/obo/DOID_423	myopathy		A myopathy that is characterized by an increased urinary excretion of myoglobin.
http://purl.obolibrary.org/obo/DOID_0080109	infantile myofibromatosis	http://purl.obolibrary.org/obo/DOID_0060123	connective tissue benign neoplasm		A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs.
http://purl.obolibrary.org/obo/DOID_0080110	contractures, pterygia, and spondylocarpotarsal fusion syndrome	http://purl.obolibrary.org/obo/DOID_37	skin disease		A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits.
http://purl.obolibrary.org/obo/DOID_0080111	mitochondrial complex III deficiency nuclear type 1	http://purl.obolibrary.org/obo/DOID_0111139	mitochondrial complex III deficiency		A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded BCS1L gene on chromosome 2q35.
http://purl.obolibrary.org/obo/DOID_0080112	mitochondrial complex III deficiency nuclear type 3	http://purl.obolibrary.org/obo/DOID_0111139	mitochondrial complex III deficiency		A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRB gene on chromosome 8q22.
http://purl.obolibrary.org/obo/DOID_0080113	mitochondrial complex III deficiency nuclear type 4	http://purl.obolibrary.org/obo/DOID_0111139	mitochondrial complex III deficiency		A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRQ gene on chromosome 5q31.
http://purl.obolibrary.org/obo/DOID_0080114	mitochondrial complex III deficiency nuclear type 5	http://purl.obolibrary.org/obo/DOID_0111139	mitochondrial complex III deficiency		A mitochondrial complex III deficiency characterized by neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia and that has_material_basis_in homozygous mutation in the UQCRC2 gene on chromosome 16p12.
http://purl.obolibrary.org/obo/DOID_0080115	mitochondrial complex III deficiency nuclear type 6	http://purl.obolibrary.org/obo/DOID_0111139	mitochondrial complex III deficiency		A mitochondrial complex III deficiency characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection and that has_material_basis_in homozygous mutation in the CYC1 gene on chromosome 8q24.
http://purl.obolibrary.org/obo/DOID_0080116	mitochondrial complex III deficiency nuclear type 7	http://purl.obolibrary.org/obo/DOID_0111139	mitochondrial complex III deficiency		A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC2 gene on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0080117	mitochondrial complex III deficiency nuclear type 8	http://purl.obolibrary.org/obo/DOID_0111139	mitochondrial complex III deficiency		A mitochondrial complex III deficiency characterized by childhood onset of progressive neurodegeneration that has_material_basis_in homozygous mutation in the LYRM7 gene on chromosome 5q23.
http://purl.obolibrary.org/obo/DOID_0080118	mitochondrial complex III deficiency nuclear type 9	http://purl.obolibrary.org/obo/DOID_0111139	mitochondrial complex III deficiency		A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC3 gene on chromosome 11q12.
http://purl.obolibrary.org/obo/DOID_0080119	mitochondrial DNA depletion syndrome 1	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene (TYMP) on chromosome 22q13.
http://purl.obolibrary.org/obo/DOID_0080120	mitochondrial DNA depletion syndrome 2	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene on chromosome 16q21.
http://purl.obolibrary.org/obo/DOID_0080121	mitochondrial DNA depletion syndrome 3	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13.
http://purl.obolibrary.org/obo/DOID_0080122	Alpers-Huttenlocher syndrome	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma (POLG) on chromosome 15q26.
http://purl.obolibrary.org/obo/DOID_0080123	mitochondrial DNA depletion syndrome 4b	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene (POLG) on chromosome 15q26.
http://purl.obolibrary.org/obo/DOID_0080124	mitochondrial DNA depletion syndrome 5	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the beta subunit of the succinate-CoA ligase gene on chromosome 13q14.
http://purl.obolibrary.org/obo/DOID_0080125	mitochondrial DNA depletion syndrome 6	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A mitochondrial DNA depletion syndrome that is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial inner membrane protein MPV17 gene on chromosome 2p23.
http://purl.obolibrary.org/obo/DOID_0080126	mitochondrial DNA depletion syndrome 7	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24.
http://purl.obolibrary.org/obo/DOID_0080127	mitochondrial DNA depletion syndrome 8a	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene on chromosome 8q22.
http://purl.obolibrary.org/obo/DOID_0080128	mitochondrial DNA depletion syndrome 9	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11.
http://purl.obolibrary.org/obo/DOID_0080129	mitochondrial DNA depletion syndrome 11	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial genome maintenance exonuclease 1 gene on chromosome 20p11.
http://purl.obolibrary.org/obo/DOID_0080130	mitochondrial DNA depletion syndrome 12a	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35.
http://purl.obolibrary.org/obo/DOID_0080131	mitochondrial DNA depletion syndrome 13	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A mitochondrial DNA depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the F-box and leucine-rich repeat protein 4 gene on chromosome 6q16.
http://purl.obolibrary.org/obo/DOID_0080132	Sengers syndrome	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34.
http://purl.obolibrary.org/obo/DOID_0080133	multiple mitochondrial dysfunctions syndrome 1	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13.
http://purl.obolibrary.org/obo/DOID_0080134	multiple mitochondrial dysfunctions syndrome 2	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the bolA family member 3 gene on chromosome 2p13.
http://purl.obolibrary.org/obo/DOID_0080135	multiple mitochondrial dysfunctions syndrome 3	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42.
http://purl.obolibrary.org/obo/DOID_0080136	multiple mitochondrial dysfunctions syndrome 4	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A multiple mitochondrial dysfunctions syndrome that is characterized by normal development for the first months of life, followed by progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus, resulting in death in early childhood, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the iron-sulfur cluster assembly 2 gene on chromosome 14q24.
http://purl.obolibrary.org/obo/DOID_0080137	multiple endocrine neoplasia type 4	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A multiple endocrine neoplasia that is characterized by hyperparathyroidism and multiple endocrine tumors and that has_material_basis_in mutations in the CDKN1B gene on chromosome 12p13 resulting in a reduction in the amount of functional p27 tumor suppressor protein which allows cells to grow and divide unchecked.
http://purl.obolibrary.org/obo/DOID_0080138	multiple congenital anomalies-hypotonia-seizures syndrome 1	http://purl.obolibrary.org/obo/DOID_0080503	multiple congenital anomalies-hypotonia-seizures syndrome		A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and has_material_basis_in homozygous mutation in the PIGN gene on chromosome 18q21.
http://purl.obolibrary.org/obo/DOID_0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2	http://purl.obolibrary.org/obo/DOID_0080503	multiple congenital anomalies-hypotonia-seizures syndrome		A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22.
http://purl.obolibrary.org/obo/DOID_0080140	multiple congenital anomalies-hypotonia-seizures syndrome 3	http://purl.obolibrary.org/obo/DOID_0080503	multiple congenital anomalies-hypotonia-seizures syndrome		A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and that has_material_basis_in homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13.
http://purl.obolibrary.org/obo/DOID_0080141	mosaic variegated aneuploidy syndrome 1	http://purl.obolibrary.org/obo/DOID_0080688	mosaic variegated aneuploidy syndrome		A mosaic variegated aneuploidy syndrome that is characterized by slow growth before and after birth, shorter than average height, unusually small head size, and an increased risk of developing cancer in childhood, and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1B gene on chromosome 15q15.
http://purl.obolibrary.org/obo/DOID_0080142	mosaic variegated aneuploidy syndrome 2	http://purl.obolibrary.org/obo/DOID_0080688	mosaic variegated aneuploidy syndrome		A mosaic variegated aneuploidy syndrome that is characterized by slowly before and after birth and typically normal head size and that has_material_basis_in homozygous or compound heterozygous mutation in the CEP57 gene on chromosome 11q21.
http://purl.obolibrary.org/obo/DOID_0080143	congenital fibrosis of the extraocular muscles	http://purl.obolibrary.org/obo/DOID_1279	ocular motility disease		An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position.
http://purl.obolibrary.org/obo/DOID_0080144	childhood acute lymphocytic leukemia	http://purl.obolibrary.org/obo/DOID_9952	acute lymphoblastic leukemia		An acute lymphocytic leukemia occurring during childhood.
http://purl.obolibrary.org/obo/DOID_0080145	childhood T-cell acute lymphoblastic leukemia	http://purl.obolibrary.org/obo/DOID_0080144	childhood acute lymphocytic leukemia		A childhood acute lymphoblastic leukemia that has_material_basis_in T-cells.
http://purl.obolibrary.org/obo/DOID_0080146	childhood B-cell acute lymphoblastic leukemia	http://purl.obolibrary.org/obo/DOID_0080144	childhood acute lymphocytic leukemia		A childhood acute lymphoblastic leukemia that has_material_basis_in B-cells.
http://purl.obolibrary.org/obo/DOID_0080147	lymphoblastic lymphoma	http://purl.obolibrary.org/obo/DOID_0060058	lymphoma		A lymphoma that has_material_basis_in immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage and located_in primarily lymph nodes or located_in extranodal sites.
http://purl.obolibrary.org/obo/DOID_0080148	T-cell childhood lymphoblastic lymphoma	http://purl.obolibrary.org/obo/DOID_0080147	lymphoblastic lymphoma		A lymphoblastic lymphoma that has_material_basis_in T-cells and that occurs during childhood.
http://purl.obolibrary.org/obo/DOID_0080149	adult acute monocytic leukemia	http://purl.obolibrary.org/obo/DOID_8864	acute monocytic leukemia		An acute monocytic leukemia occurring in adults.
http://purl.obolibrary.org/obo/DOID_0080150	adrenocorticotropic hormone deficiency	http://purl.obolibrary.org/obo/DOID_9406	hypopituitarism		A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland.
http://purl.obolibrary.org/obo/DOID_0080153	medium chain acyl-CoA dehydrogenase deficiency	http://purl.obolibrary.org/obo/DOID_3146	lipid metabolism disorder		A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting.
http://purl.obolibrary.org/obo/DOID_0080154	short chain acyl-CoA dehydrogenase deficiency	http://purl.obolibrary.org/obo/DOID_3146	lipid metabolism disorder		A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids.
http://purl.obolibrary.org/obo/DOID_0080155	very long chain acyl-CoA dehydrogenase deficiency	http://purl.obolibrary.org/obo/DOID_3146	lipid metabolism disorder		A lipid metabolism disorder that is characterized by deficiency of the enzyme very long chain acyl-CoA dehydrogenase that results in the inability to convert very long chain fatty acids.
http://purl.obolibrary.org/obo/DOID_0080156	X-linked adrenal hypoplasia congenita	http://purl.obolibrary.org/obo/DOID_10493	adrenal cortical hypofunction		An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor NR0B1 (DAX1) gene.
http://purl.obolibrary.org/obo/DOID_0080158	herpes simplex virus keratitis	http://purl.obolibrary.org/obo/DOID_4677	keratitis		A keratitis that has_material_basis_in herpes simplex type infection.
http://purl.obolibrary.org/obo/DOID_0080159	Cryptococcal meningitis	http://purl.obolibrary.org/obo/DOID_11608	fungal meningitis		A fungal meningitis that has_material_basis_in Crypococcus fungal infection.
http://purl.obolibrary.org/obo/DOID_0080160	Cytomegalovirus retinitis	http://purl.obolibrary.org/obo/DOID_3612	retinitis		A retinitis that has_material_basis_in Cytomegalovirus.
http://purl.obolibrary.org/obo/DOID_0080161	cutaneous candidiasis	http://purl.obolibrary.org/obo/DOID_37	skin disease		A candidiasis that is characterized by Candida infection located_in the skin.
http://purl.obolibrary.org/obo/DOID_0080162	lupus nephritis	http://purl.obolibrary.org/obo/DOID_2921	glomerulonephritis		A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.
http://purl.obolibrary.org/obo/DOID_0080163	autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome	http://purl.obolibrary.org/obo/DOID_0061170	autoinflammation, panniculitis, and dermatosis syndrome		An autoinflammation, panniculitis, and dermatosis syndrome characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in homozygous or compound heterozygous loss-of-function mutation in the OTULIN gene on chromosome 5p15.
http://purl.obolibrary.org/obo/DOID_0080164	myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1	http://purl.obolibrary.org/obo/DOID_0070004	myeloid neoplasm		A myeloid neoplasm that is characterized by the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases.
http://purl.obolibrary.org/obo/DOID_0080165	myeloid and lymphoid neoplasms associated with PDGFRA rearrangement	http://purl.obolibrary.org/obo/DOID_0080164	myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1		A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts.
http://purl.obolibrary.org/obo/DOID_0080166	myeloid and lymphoid neoplasms associated with PDGFRB rearrangement	http://purl.obolibrary.org/obo/DOID_0080164	myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1		A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts.
http://purl.obolibrary.org/obo/DOID_0080167	myeloid and lymphoid neoplasms associated with FGFR1 abnormalities	http://purl.obolibrary.org/obo/DOID_0080164	myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1		A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint.
http://purl.obolibrary.org/obo/DOID_0080169	tricuspid atresia	http://purl.obolibrary.org/obo/DOID_0050826	tricuspid valve disease		A tricuspid valve disease characterized by a missing or abnormally developed tricuspid heart value at birth.
http://purl.obolibrary.org/obo/DOID_0080170	normophosphatemic familial tumoral calcinosis	http://purl.obolibrary.org/obo/DOID_182	calcinosis		A calcinosis that is characterized by massive periarticular, and seldom visceral, deposition of calcified tumors.
http://purl.obolibrary.org/obo/DOID_0080171	esophageal atresia/tracheoesophageal fistula	http://purl.obolibrary.org/obo/DOID_77	gastrointestinal system disease		A gastrointestinal system disease that is characterized by abnormal development of the esophagus and trachea where the upper esophagus does not connect (atresia) to the lower esophagus and stomach and may also include tracheoesophageal fistula where the esophagus and the trachea are abnormally connected which allows fluids from the esophagus to get into the airways and interfere with breathing.
http://purl.obolibrary.org/obo/DOID_0080172	poor metabolism of thiopurines	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines.
http://purl.obolibrary.org/obo/DOID_0110000	3-methylglutaconic aciduria type 5	http://purl.obolibrary.org/obo/DOID_0060336	3-methylglutaconic aciduria		A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the DNAJC19 gene on chromosome 3q26.
http://purl.obolibrary.org/obo/DOID_0110001	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	http://purl.obolibrary.org/obo/DOID_0060336	3-methylglutaconic aciduria		A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25.
http://purl.obolibrary.org/obo/DOID_0110002	3-methylglutaconic aciduria type 1	http://purl.obolibrary.org/obo/DOID_0060336	3-methylglutaconic aciduria		A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22.
http://purl.obolibrary.org/obo/DOID_0110003	3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia	http://purl.obolibrary.org/obo/DOID_0060336	3-methylglutaconic aciduria		A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0110004	3-methylglutaconic aciduria type 3	http://purl.obolibrary.org/obo/DOID_0060336	3-methylglutaconic aciduria		A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene.
http://purl.obolibrary.org/obo/DOID_0110005	Leber congenital amaurosis 9	http://purl.obolibrary.org/obo/DOID_14791	Leber congenital amaurosis		A Leber congenital amaurosis that has_material_basis_in mutation in the NMNAT1 gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0110006	3-methylglutaconic aciduria type 4	http://purl.obolibrary.org/obo/DOID_0060336	3-methylglutaconic aciduria		A 3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid.
http://purl.obolibrary.org/obo/DOID_0110007	achromatopsia 2	http://purl.obolibrary.org/obo/DOID_13911	achromatopsia		An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11.
http://purl.obolibrary.org/obo/DOID_0110008	achromatopsia 3	http://purl.obolibrary.org/obo/DOID_13911	achromatopsia		An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2.
http://purl.obolibrary.org/obo/DOID_0110009	achromatopsia 7	http://purl.obolibrary.org/obo/DOID_13911	achromatopsia		An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23.
http://purl.obolibrary.org/obo/DOID_0110010	achromatopsia 4	http://purl.obolibrary.org/obo/DOID_13911	achromatopsia		An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the GNAT2 gene on chromosome 1p13.
http://purl.obolibrary.org/obo/DOID_0110011	advanced sleep phase syndrome 1	http://purl.obolibrary.org/obo/DOID_0050628	advanced sleep phase syndrome		An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER2 gene on chromosome 2q37.
http://purl.obolibrary.org/obo/DOID_0110012	advanced sleep phase syndrome 2	http://purl.obolibrary.org/obo/DOID_0050628	advanced sleep phase syndrome		An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the CSNK1D gene on chromosome 17q25.
http://purl.obolibrary.org/obo/DOID_0110013	advanced sleep phase syndrome 3	http://purl.obolibrary.org/obo/DOID_0050628	advanced sleep phase syndrome		An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER3 gene on chromosome 1p36.23.
http://purl.obolibrary.org/obo/DOID_0110014	age related macular degeneration 1	http://purl.obolibrary.org/obo/DOID_10871	age related macular degeneration		An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1.
http://purl.obolibrary.org/obo/DOID_0110015	age related macular degeneration 2	http://purl.obolibrary.org/obo/DOID_10871	age related macular degeneration		An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22.
http://purl.obolibrary.org/obo/DOID_0110016	Leber congenital amaurosis 2	http://purl.obolibrary.org/obo/DOID_14791	Leber congenital amaurosis		A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the RPE65 gene on chromosome 1.
http://purl.obolibrary.org/obo/DOID_0110017	age related macular degeneration 4	http://purl.obolibrary.org/obo/DOID_10871	age related macular degeneration		An age related macular degeneration conferred by variation in the CFH gene on chromosome 1q31.
http://purl.obolibrary.org/obo/DOID_0110018	age related macular degeneration 6	http://purl.obolibrary.org/obo/DOID_10871	age related macular degeneration		An age related macular degeneration conferred by heterozygous mutation in the RAXL1 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0110019	age related macular degeneration 7	http://purl.obolibrary.org/obo/DOID_10871	age related macular degeneration		An age related macular degeneration conferred by variation in the HTRA1 gene on chromosome 10q26.
http://purl.obolibrary.org/obo/DOID_0110020	age related macular degeneration 8	http://purl.obolibrary.org/obo/DOID_10871	age related macular degeneration		An age related macular degeneration that has_material_basis_in mutation in the ARMS2 gene, originally designated LOC387715, on chromosome 10q26.
http://purl.obolibrary.org/obo/DOID_0110021	age related macular degeneration 9	http://purl.obolibrary.org/obo/DOID_10871	age related macular degeneration		An age related macular degeneration conferred by variation in the C3 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0110022	age related macular degeneration 10	http://purl.obolibrary.org/obo/DOID_10871	age related macular degeneration		An age related macular degeneration associated with variation in the genomic region 9:112,100,000-127,500,000 (GRCh38). TLR4 has been put forth as a candidate gene.
http://purl.obolibrary.org/obo/DOID_0110023	age related macular degeneration 11	http://purl.obolibrary.org/obo/DOID_10871	age related macular degeneration		An age related macular degeneration conferred by variation in the CST3 gene on chromosome 20p11.
http://purl.obolibrary.org/obo/DOID_0110024	age related macular degeneration 12	http://purl.obolibrary.org/obo/DOID_10871	age related macular degeneration		An age related macular degeneration conferred by mutation in the CX3CR1 gene on chromosome 3p22.
http://purl.obolibrary.org/obo/DOID_0110025	age related macular degeneration 13	http://purl.obolibrary.org/obo/DOID_10871	age related macular degeneration		An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25.
http://purl.obolibrary.org/obo/DOID_0110026	age related macular degeneration 14	http://purl.obolibrary.org/obo/DOID_10871	age related macular degeneration		An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0110027	age related macular degeneration 15	http://purl.obolibrary.org/obo/DOID_10871	age related macular degeneration		An age related macular degeneration conferred by variation in the C9 gene on chromosome 5p13.
http://purl.obolibrary.org/obo/DOID_0110028	age related macular degeneration 5	http://purl.obolibrary.org/obo/DOID_10871	age related macular degeneration		An age related macular degeneration onferred by heterozygous mutation in the ERCC6 gene on chromosome 10q11.
http://purl.obolibrary.org/obo/DOID_0110029	alpha thalassemia-intellectual disability syndrome type 1	http://purl.obolibrary.org/obo/DOID_1099	alpha thalassemia		An alpha thalassemia that has_material_basis_in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others.
http://purl.obolibrary.org/obo/DOID_0110030	alpha thalassemia-X-linked intellectual disability syndrome	http://purl.obolibrary.org/obo/DOID_1099	alpha thalassemia		An alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21.
http://purl.obolibrary.org/obo/DOID_0110031	hemoglobin H disease	http://purl.obolibrary.org/obo/DOID_1099	alpha thalassemia		An alpha thalassemia that has_material_basis_in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other.
http://purl.obolibrary.org/obo/DOID_0110032	Alport syndrome 3A	http://purl.obolibrary.org/obo/DOID_10983	Alport syndrome		An Alport syndrome that has_material_basis_in heterozygous mutation in the COL4A3 gene.
http://purl.obolibrary.org/obo/DOID_0110033	Alport syndrome 2	http://purl.obolibrary.org/obo/DOID_10983	Alport syndrome		An Alport syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q.
http://purl.obolibrary.org/obo/DOID_0110034	X-linked Alport syndrome	http://purl.obolibrary.org/obo/DOID_10983	Alport syndrome		An Alport syndrome that has_material_basis_in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5).
http://purl.obolibrary.org/obo/DOID_0110035	Alzheimer's disease 2	http://purl.obolibrary.org/obo/DOID_10652	Alzheimer's disease		An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele.
http://purl.obolibrary.org/obo/DOID_0110036	Alzheimer's disease 16	http://purl.obolibrary.org/obo/DOID_10652	Alzheimer's disease		An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3.
http://purl.obolibrary.org/obo/DOID_0110037	Alzheimer's disease 5	http://purl.obolibrary.org/obo/DOID_10652	Alzheimer's disease		An Alzheimer's disease that is characterized by an associated with variation in the region 12p11.23-q13.12.
http://purl.obolibrary.org/obo/DOID_0110038	Alzheimer's disease 6	http://purl.obolibrary.org/obo/DOID_10652	Alzheimer's disease		An Alzheimer's disease that is characterized by an associated with variation in the region 10q24.
http://purl.obolibrary.org/obo/DOID_0110039	Alzheimer's disease 7	http://purl.obolibrary.org/obo/DOID_10652	Alzheimer's disease		An Alzheimer's disease that is characterized by an associated with variation in the region 10p13.
http://purl.obolibrary.org/obo/DOID_0110040	Alzheimer's disease 4	http://purl.obolibrary.org/obo/DOID_10652	Alzheimer's disease		An Alzheimer's disease that has_material_basis_in a mutation in the presenilin-2 gene (PSEN2) on chromosome 1q42.
http://purl.obolibrary.org/obo/DOID_0110041	Alzheimer's disease 8	http://purl.obolibrary.org/obo/DOID_10652	Alzheimer's disease		An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21.
http://purl.obolibrary.org/obo/DOID_0110042	Alzheimer's disease 3	http://purl.obolibrary.org/obo/DOID_10652	Alzheimer's disease		An Alzheimer's disease that has_material_basis_in mutation in the presenilin-1 gene (PSEN1) on chromosome 14q24.
http://purl.obolibrary.org/obo/DOID_0110043	Alzheimer's disease 10	http://purl.obolibrary.org/obo/DOID_10652	Alzheimer's disease		An Alzheimer's disease that is characterized by an associated with variation in the region 7q36.
http://purl.obolibrary.org/obo/DOID_0110044	Alzheimer's disease 11	http://purl.obolibrary.org/obo/DOID_10652	Alzheimer's disease		An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1.
http://purl.obolibrary.org/obo/DOID_0110045	Alzheimer's disease 12	http://purl.obolibrary.org/obo/DOID_10652	Alzheimer's disease		An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22.
http://purl.obolibrary.org/obo/DOID_0110046	Alzheimer's disease 13	http://purl.obolibrary.org/obo/DOID_10652	Alzheimer's disease		An Alzheimer's disease that is characterized by an associated with variation in the region 1q21.
http://purl.obolibrary.org/obo/DOID_0110047	Alzheimer's disease 14	http://purl.obolibrary.org/obo/DOID_10652	Alzheimer's disease		An Alzheimer's disease that is characterized by an associated with variation in the region 1q25.
http://purl.obolibrary.org/obo/DOID_0110048	Alzheimer's disease 15	http://purl.obolibrary.org/obo/DOID_10652	Alzheimer's disease		An Alzheimer's disease that is characterized by an associated with variations in the region 3q22-q24.
http://purl.obolibrary.org/obo/DOID_0110049	Alzheimer's disease 17	http://purl.obolibrary.org/obo/DOID_10652	Alzheimer's disease		An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2.
http://purl.obolibrary.org/obo/DOID_0110050	Alzheimer's disease 18	http://purl.obolibrary.org/obo/DOID_10652	Alzheimer's disease		An Alzheimer's disease that has_material_basis_in a mutation in the ADAM10 gene on chromosome 15q21.
http://purl.obolibrary.org/obo/DOID_0110051	Alzheimer's disease 19	http://purl.obolibrary.org/obo/DOID_10652	Alzheimer's disease		An Alzheimer's disease that is characterized by associated variants of the gene PLD3.
http://purl.obolibrary.org/obo/DOID_0110052	amelogenesis imperfecta type 1B	http://purl.obolibrary.org/obo/DOID_2187	amelogenesis imperfecta		An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13.
http://purl.obolibrary.org/obo/DOID_0110053	amelogenesis imperfecta type 4	http://purl.obolibrary.org/obo/DOID_2187	amelogenesis imperfecta		An amelogenesis imperfecta which can has_material_basis_in mutation in the DLX3 gene.
http://purl.obolibrary.org/obo/DOID_0110054	amelogenesis imperfecta type 1A	http://purl.obolibrary.org/obo/DOID_2187	amelogenesis imperfecta		An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32.
http://purl.obolibrary.org/obo/DOID_0110055	amelogenesis imperfecta type 3A	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An amelogenesis imperfecta type 3 that has_material_basis_in heterozygous mutation in the FAM83H gene on chromosome 8q24.
http://purl.obolibrary.org/obo/DOID_0110056	amelogenesis imperfecta type 1C	http://purl.obolibrary.org/obo/DOID_2187	amelogenesis imperfecta		An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the enamelin gene (ENAM).
http://purl.obolibrary.org/obo/DOID_0110057	amelogenesis imperfecta type 2A1	http://purl.obolibrary.org/obo/DOID_2187	amelogenesis imperfecta		An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0110058	amelogenesis imperfecta type 1E	http://purl.obolibrary.org/obo/DOID_2187	amelogenesis imperfecta		An amelogenesis imperfecta that has_material_basis_in X-linked dominant mutation in the gene encoding amelogenin (AMELX).
http://purl.obolibrary.org/obo/DOID_0110059	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2	http://purl.obolibrary.org/obo/DOID_2187	amelogenesis imperfecta		An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region.
http://purl.obolibrary.org/obo/DOID_0110060	amelogenesis imperfecta hypomaturation type 2A2	http://purl.obolibrary.org/obo/DOID_2187	amelogenesis imperfecta		An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20).
http://purl.obolibrary.org/obo/DOID_0110061	amelogenesis imperfecta hypomaturation type 2A3	http://purl.obolibrary.org/obo/DOID_2187	amelogenesis imperfecta		An amelogenesis imperfecta caused by homozygous mutation in the WDR72 gene.
http://purl.obolibrary.org/obo/DOID_0110062	amelogenesis imperfecta hypomaturation type 2A4	http://purl.obolibrary.org/obo/DOID_2187	amelogenesis imperfecta		An amelogenesis imperfecta caused by homozygous mutation in the C4ORF26 gene on chromosome 4q21.
http://purl.obolibrary.org/obo/DOID_0110063	amelogenesis imperfecta hypomaturation type 2A5	http://purl.obolibrary.org/obo/DOID_2187	amelogenesis imperfecta		An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the SLC24A4 gene on chromosome 14q32.
http://purl.obolibrary.org/obo/DOID_0110064	amelogenesis imperfecta type 1H	http://purl.obolibrary.org/obo/DOID_2187	amelogenesis imperfecta		An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24.
http://purl.obolibrary.org/obo/DOID_0110065	amelogenesis imperfecta type 1F	http://purl.obolibrary.org/obo/DOID_2187	amelogenesis imperfecta		An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ameloblastin gene (AMBN) on chromosome 4q13.
http://purl.obolibrary.org/obo/DOID_0110066	amelogenesis imperfecta type 1G	http://purl.obolibrary.org/obo/DOID_2187	amelogenesis imperfecta		An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24.
http://purl.obolibrary.org/obo/DOID_0110067	juvenile amyotrophic lateral sclerosis with dementia	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia.
http://purl.obolibrary.org/obo/DOID_0110068	frontotemporal dementia and/or amyotrophic lateral sclerosis 3	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SQSTM1 gene on chromosome 5q35.
http://purl.obolibrary.org/obo/DOID_0110069	frontotemporal dementia and/or amyotrophic lateral sclerosis 4	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TBK1 gene on chromosome 12q14.
http://purl.obolibrary.org/obo/DOID_0110070	arrhythmogenic right ventricular dysplasia 1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24.
http://purl.obolibrary.org/obo/DOID_0110072	arrhythmogenic right ventricular dysplasia 3	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22.
http://purl.obolibrary.org/obo/DOID_0110073	arrhythmogenic right ventricular dysplasia 4	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3.
http://purl.obolibrary.org/obo/DOID_0110074	arrhythmogenic right ventricular dysplasia 5	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25.
http://purl.obolibrary.org/obo/DOID_0110075	arrhythmogenic right ventricular dysplasia 6	http://purl.obolibrary.org/obo/DOID_0050431	arrhythmogenic right ventricular cardiomyopathy		An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12.
http://purl.obolibrary.org/obo/DOID_0110076	arrhythmogenic right ventricular dysplasia 8	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding desmoplakin (DSP) on chromosome 6p24.
http://purl.obolibrary.org/obo/DOID_0110077	arrhythmogenic right ventricular dysplasia 9	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutations in the PKP2 gene on chromosome 12p11.
http://purl.obolibrary.org/obo/DOID_0110078	Leber congenital amaurosis 1	http://purl.obolibrary.org/obo/DOID_14791	Leber congenital amaurosis		A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0110079	Leber congenital amaurosis 8	http://purl.obolibrary.org/obo/DOID_14791	Leber congenital amaurosis		A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the CRB1 gene on chromosome 1q31-q32.
http://purl.obolibrary.org/obo/DOID_0110080	Leber congenital amaurosis 12	http://purl.obolibrary.org/obo/DOID_14791	Leber congenital amaurosis		A Leber congenital amaurosis that has_material_basis_in mutation in the RD3 gene on chromosome 1q32.
http://purl.obolibrary.org/obo/DOID_0110081	arrhythmogenic right ventricular dysplasia 10	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmoglein-2 gene (DSG2) on chromosome 18q12.
http://purl.obolibrary.org/obo/DOID_0110082	arrhythmogenic right ventricular dysplasia 11	http://purl.obolibrary.org/obo/DOID_0050431	arrhythmogenic right ventricular cardiomyopathy		An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmocollin-2 gene (DSC2) on chromosome 18q.
http://purl.obolibrary.org/obo/DOID_0110083	arrhythmogenic right ventricular dysplasia 12	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding junction plakoglobin (JUP) on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0110084	arrhythmogenic right ventricular dysplasia 13	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the CTNNA3 gene on chromosome 10q21.
http://purl.obolibrary.org/obo/DOID_0110085	asphyxiating thoracic dystrophy 1	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An asphyxiating thoracic dystrophy associated with variation in the region 15q13.
http://purl.obolibrary.org/obo/DOID_0110086	asphyxiating thoracic dystrophy 2	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25.
http://purl.obolibrary.org/obo/DOID_0110087	asphyxiating thoracic dystrophy 3	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.
http://purl.obolibrary.org/obo/DOID_0110088	asphyxiating thoracic dystrophy 4	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.
http://purl.obolibrary.org/obo/DOID_0110089	asphyxiating thoracic dystrophy 5	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14.
http://purl.obolibrary.org/obo/DOID_0110090	short-rib thoracic dysplasia 7 with or without polydactyly	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.
http://purl.obolibrary.org/obo/DOID_0110091	short-rib thoracic dysplasia 10 with or without polydactyly	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.
http://purl.obolibrary.org/obo/DOID_0110092	short-rib thoracic dysplasia 6 with or without polydactyly	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33.
http://purl.obolibrary.org/obo/DOID_0110093	short-rib thoracic dysplasia 13 with or without polydactyly	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23.
http://purl.obolibrary.org/obo/DOID_0110094	short-rib thoracic dysplasia 8 with or without polydactyly	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.
http://purl.obolibrary.org/obo/DOID_0110095	short-rib thoracic dysplasia 11 with or without polydactyly	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0110096	short-rib thoracic dysplasia 14 with polydactyly	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the KIAA0586 gene on chromosome 14q23.
http://purl.obolibrary.org/obo/DOID_0110097	short-rib thoracic dysplasia 9 with or without polydactyly	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.
http://purl.obolibrary.org/obo/DOID_0110098	atopic dermatitis 2	http://purl.obolibrary.org/obo/DOID_3310	atopic dermatitis		An atopic dermatitis conferred by variation in the FLG gene on chromosome 1q21.
http://purl.obolibrary.org/obo/DOID_0110099	atopic dermatitis 3	http://purl.obolibrary.org/obo/DOID_3310	atopic dermatitis		An atopic dermatitis associated with variation in the region 20p.
http://purl.obolibrary.org/obo/DOID_0110100	atopic dermatitis 4	http://purl.obolibrary.org/obo/DOID_3310	atopic dermatitis		An atopic dermatitis associated with variation in the region 17q25.3.
http://purl.obolibrary.org/obo/DOID_0110101	atopic dermatitis 5	http://purl.obolibrary.org/obo/DOID_3310	atopic dermatitis		An atopic dermatitis associated with variation in the region 13q12-q14.
http://purl.obolibrary.org/obo/DOID_0110102	atopic dermatitis 6	http://purl.obolibrary.org/obo/DOID_3310	atopic dermatitis		An atopic dermatitis associated with variation in the region 5q31-q33.
http://purl.obolibrary.org/obo/DOID_0110103	atopic dermatitis 7	http://purl.obolibrary.org/obo/DOID_3310	atopic dermatitis		An atopic dermatitis associated with variation in the region 11q13.5.
http://purl.obolibrary.org/obo/DOID_0110104	atopic dermatitis 8	http://purl.obolibrary.org/obo/DOID_3310	atopic dermatitis		An atopic dermatitis associated with variation in the region 4q22.1.
http://purl.obolibrary.org/obo/DOID_0110105	atopic dermatitis 9	http://purl.obolibrary.org/obo/DOID_3310	atopic dermatitis		An atopic dermatitis associated with variation in the region 3p24.
http://purl.obolibrary.org/obo/DOID_0110106	atrial heart septal defect 1	http://purl.obolibrary.org/obo/DOID_1882	atrial heart septal defect		An atrial heart septal defect type 1 associated with variation in the region 5p.
http://purl.obolibrary.org/obo/DOID_0110107	atrial heart septal defect 2	http://purl.obolibrary.org/obo/DOID_1882	atrial heart septal defect		An atrial heart septal defect type 2 that has_material_basis_in heterozygous mutation in the GATA4 gene on chromosome 8p23.
http://purl.obolibrary.org/obo/DOID_0110108	atrial heart septal defect 3	http://purl.obolibrary.org/obo/DOID_1882	atrial heart septal defect		An atrial heart septal defect type 3 that has_material_basis_in heterozygous mutation in the myosin heavy chain-6 gene (MYH6) on chromosome 14q12.
http://purl.obolibrary.org/obo/DOID_0110109	atrial heart septal defect 4	http://purl.obolibrary.org/obo/DOID_1882	atrial heart septal defect		An atrial heart septal defect type 4 that has_material_basis_in mutation in the TBX20 gene.
http://purl.obolibrary.org/obo/DOID_0110110	atrial heart septal defect 5	http://purl.obolibrary.org/obo/DOID_1882	atrial heart septal defect		An atrial heart septal defect type 5 that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14.
http://purl.obolibrary.org/obo/DOID_0110111	atrial heart septal defect 6	http://purl.obolibrary.org/obo/DOID_1882	atrial heart septal defect		An atrial heart septal defect type 6 that has_material_basis_in heterozygous mutation in the TLL1 gene on chromosome 4q32.
http://purl.obolibrary.org/obo/DOID_0110112	atrial heart septal defect 7	http://purl.obolibrary.org/obo/DOID_1882	atrial heart septal defect		An atrial heart septal defect that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35.
http://purl.obolibrary.org/obo/DOID_0110113	atrial heart septal defect 8	http://purl.obolibrary.org/obo/DOID_1882	atrial heart septal defect		An atrial heart septal defect that has_material_basis_in heterozygous mutation in the CITED2 gene on chromosome 6q23.3.
http://purl.obolibrary.org/obo/DOID_0110114	atrial heart septal defect 9	http://purl.obolibrary.org/obo/DOID_1882	atrial heart septal defect		An atrial heart septal defect that has_material_basis_in heterozygous mutation in the GATA6 gene on chromosome 18q11.
http://purl.obolibrary.org/obo/DOID_0110115	autoimmune lymphoproliferative syndrome type 2A	http://purl.obolibrary.org/obo/DOID_6688	autoimmune lymphoproliferative syndrome		An autoimmune lymphoproliferative syndrome that has_material_basis_in mutation in the CASP10 gene.
http://purl.obolibrary.org/obo/DOID_0110116	autoimmune lymphoproliferative syndrome type 2B	http://purl.obolibrary.org/obo/DOID_6688	autoimmune lymphoproliferative syndrome		An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the CASP8 gene on chromosome 2q33.
http://purl.obolibrary.org/obo/DOID_0110117	autoimmune lymphoproliferative syndrome type 4	http://purl.obolibrary.org/obo/DOID_6688	autoimmune lymphoproliferative syndrome		An autoimmune lymphoproliferative syndrome that has_material_basis_in somatic mutation in the NRAS gene or the KRAS gene on chromosome 12p12.
http://purl.obolibrary.org/obo/DOID_0110118	Leber congenital amaurosis 16	http://purl.obolibrary.org/obo/DOID_14791	Leber congenital amaurosis		A Leber congenital amaurosis that has_material_basis_in mutation in the KCNJ13 gene on chromosome 2q37.
http://purl.obolibrary.org/obo/DOID_0110119	autoimmune lymphoproliferative syndrome type 3	http://purl.obolibrary.org/obo/DOID_6688	autoimmune lymphoproliferative syndrome		An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the PRKCD gene on chromosome 3p21.
http://purl.obolibrary.org/obo/DOID_0110120	Axenfeld-Rieger syndrome type 1	http://purl.obolibrary.org/obo/DOID_14686	Axenfeld-Rieger syndrome		An Axenfeld-Rieger syndrome characterized by abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25.
http://purl.obolibrary.org/obo/DOID_0110121	Axenfeld-Rieger syndrome type 2	http://purl.obolibrary.org/obo/DOID_14686	Axenfeld-Rieger syndrome		An Axenfeld-Rieger syndrome characterized by bnormal development of the anterior segment of the eye, which results in blindness from glaucoma in approximately 50% of affected individuals that has_material_basis_in deletions in the region 13q14.
http://purl.obolibrary.org/obo/DOID_0110122	Axenfeld-Rieger syndrome type 3	http://purl.obolibrary.org/obo/DOID_14686	Axenfeld-Rieger syndrome		An Axenfeld-Rieger characterized by an anteriorly displaced Schwalbe line, the presence of another ocular anomaly (hypoplasia of iris stroma, corectopia, or iridocorneal adhesions), and nonocular anomalies including maxillary hypoplasia, hypodontia, microdontia, protuberant periumbilical skin, sensorineural hearing loss, and congenital cardiac or renal anomalies syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25.
http://purl.obolibrary.org/obo/DOID_0110123	Bardet-Biedl syndrome 1	http://purl.obolibrary.org/obo/DOID_1935	Bardet-Biedl syndrome		A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS1 gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0110124	Bardet-Biedl syndrome 2	http://purl.obolibrary.org/obo/DOID_1935	Bardet-Biedl syndrome		A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the BBS2 gene on chromosome 16q13.
http://purl.obolibrary.org/obo/DOID_0110125	Bardet-Biedl syndrome 3	http://purl.obolibrary.org/obo/DOID_1935	Bardet-Biedl syndrome		A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the ARL6 gene on chromosome 3q11.
http://purl.obolibrary.org/obo/DOID_0110126	Bardet-Biedl syndrome 4	http://purl.obolibrary.org/obo/DOID_1935	Bardet-Biedl syndrome		A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS4 gene on chromosome 15q24.
http://purl.obolibrary.org/obo/DOID_0110127	Bardet-Biedl syndrome 5	http://purl.obolibrary.org/obo/DOID_1935	Bardet-Biedl syndrome		A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS5 gene on chromosome 2q31.
http://purl.obolibrary.org/obo/DOID_0110128	Bardet-Biedl syndrome 6	http://purl.obolibrary.org/obo/DOID_1935	Bardet-Biedl syndrome		A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKKS gene on chromosome 20p12.
http://purl.obolibrary.org/obo/DOID_0110129	Bardet-Biedl syndrome 7	http://purl.obolibrary.org/obo/DOID_1935	Bardet-Biedl syndrome		A Bardet-Biedl syndrome characterized by retinitis pigmentosa, postaxial polydactyly, impaired intellectual development, obesity, renal anomalies, and hypogenitalism that has_material_basis_in homozygous mutation in the BBS7 gene on chromosome 4q27.
http://purl.obolibrary.org/obo/DOID_0110130	Bardet-Biedl syndrome 8	http://purl.obolibrary.org/obo/DOID_1935	Bardet-Biedl syndrome		A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the TTC8 gene on chromosome 14q31.
http://purl.obolibrary.org/obo/DOID_0110131	Bardet-Biedl syndrome 9	http://purl.obolibrary.org/obo/DOID_1935	Bardet-Biedl syndrome		A Bardet-Biedl syndrome that has_material_basis_in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14.
http://purl.obolibrary.org/obo/DOID_0110132	Bardet-Biedl syndrome 10	http://purl.obolibrary.org/obo/DOID_1935	Bardet-Biedl syndrome		A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS10 gene on chromosome 12q21.
http://purl.obolibrary.org/obo/DOID_0110133	Bardet-Biedl syndrome 11	http://purl.obolibrary.org/obo/DOID_1935	Bardet-Biedl syndrome		A Bardet-Biedl syndrome that has_material_basis_in mutation in the TRIM32 gene on chromosome 9q33.
http://purl.obolibrary.org/obo/DOID_0110134	Bardet-Biedl syndrome 12	http://purl.obolibrary.org/obo/DOID_1935	Bardet-Biedl syndrome		A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS12 gene on chromosome 4q27.
http://purl.obolibrary.org/obo/DOID_0110135	Bardet-Biedl syndrome 13	http://purl.obolibrary.org/obo/DOID_1935	Bardet-Biedl syndrome		A Bardet-Biedl syndrome that has_material_basis_in compound heterozygous mutation in the MKS1 gene on chromosome 17q22.
http://purl.obolibrary.org/obo/DOID_0110136	Bardet-Biedl syndrome 14	http://purl.obolibrary.org/obo/DOID_1935	Bardet-Biedl syndrome		A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the CEP290 gene on chromosome 12q21.
http://purl.obolibrary.org/obo/DOID_0110137	Bardet-Biedl syndrome 15	http://purl.obolibrary.org/obo/DOID_1935	Bardet-Biedl syndrome		A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the WDPCP gene on chromosome 2p15.
http://purl.obolibrary.org/obo/DOID_0110138	Bardet-Biedl syndrome 16	http://purl.obolibrary.org/obo/DOID_1935	Bardet-Biedl syndrome		A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the SDCCAG8 gene on chromosome 1q43.
http://purl.obolibrary.org/obo/DOID_0110139	Bardet-Biedl syndrome 17	http://purl.obolibrary.org/obo/DOID_1935	Bardet-Biedl syndrome		A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LZTFL1 gene on chromosome 3p21.
http://purl.obolibrary.org/obo/DOID_0110140	Bardet-Biedl syndrome 18	http://purl.obolibrary.org/obo/DOID_1935	Bardet-Biedl syndrome		A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBIP1 gene on chromosome 10q25.
http://purl.obolibrary.org/obo/DOID_0110141	Bardet-Biedl syndrome 19	http://purl.obolibrary.org/obo/DOID_1935	Bardet-Biedl syndrome		A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the IFT27 gene on chromosome 22q12.
http://purl.obolibrary.org/obo/DOID_0110142	Bartter disease type 1	http://purl.obolibrary.org/obo/DOID_445	Bartter disease		A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21.
http://purl.obolibrary.org/obo/DOID_0110143	Bartter disease type 2	http://purl.obolibrary.org/obo/DOID_445	Bartter disease		A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24.
http://purl.obolibrary.org/obo/DOID_0110144	Bartter disease type 3	http://purl.obolibrary.org/obo/DOID_445	Bartter disease		A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0110145	Bartter disease type 4a	http://purl.obolibrary.org/obo/DOID_445	Bartter disease		A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32.
http://purl.obolibrary.org/obo/DOID_0110146	Bartter disease type 4b	http://purl.obolibrary.org/obo/DOID_445	Bartter disease		A Bartter disease that has_material_basis_in simultaneous mutation in both the CLCNKA and CLCNKB genes.
http://purl.obolibrary.org/obo/DOID_0110147	Bartter disease type 5	http://purl.obolibrary.org/obo/DOID_445	Bartter disease		A Bartter disease that has_material_basis_in mutation in the MAGED2 gene on chromosome Xp11.
http://purl.obolibrary.org/obo/DOID_0110148	Charcot-Marie-Tooth disease type 1A	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22).
http://purl.obolibrary.org/obo/DOID_0110149	Charcot-Marie-Tooth disease type 1F	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene.
http://purl.obolibrary.org/obo/DOID_0110150	Charcot-Marie-Tooth disease type 1D	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2).
http://purl.obolibrary.org/obo/DOID_0110151	Charcot-Marie-Tooth disease type 1C	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13.
http://purl.obolibrary.org/obo/DOID_0110152	Charcot-Marie-Tooth disease type 1B	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ).
http://purl.obolibrary.org/obo/DOID_0110153	Charcot-Marie-Tooth disease type 1E	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22).
http://purl.obolibrary.org/obo/DOID_0110154	Charcot-Marie-Tooth disease type 2A1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0110155	Charcot-Marie-Tooth disease type 2A2A	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22.
http://purl.obolibrary.org/obo/DOID_0110156	Charcot-Marie-Tooth disease type 2B1	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22.
http://purl.obolibrary.org/obo/DOID_0110157	Charcot-Marie-Tooth disease type 2J	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.
http://purl.obolibrary.org/obo/DOID_0110158	Charcot-Marie-Tooth disease type 2I	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.
http://purl.obolibrary.org/obo/DOID_0110159	Charcot-Marie-Tooth disease type 2B	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21.
http://purl.obolibrary.org/obo/DOID_0110160	Charcot-Marie-Tooth disease axonal type 2T	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.
http://purl.obolibrary.org/obo/DOID_0110161	Charcot-Marie-Tooth disease type 2R	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q.
http://purl.obolibrary.org/obo/DOID_0110162	Charcot-Marie-Tooth disease, axonal type 2W	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the HARS gene on chromosome 5q31.
http://purl.obolibrary.org/obo/DOID_0110163	Charcot-Marie-Tooth disease axonal type 2F	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1).
http://purl.obolibrary.org/obo/DOID_0110164	Charcot-Marie-Tooth disease type 2D	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the GARS1 gene.
http://purl.obolibrary.org/obo/DOID_0110165	Charcot-Marie-Tooth disease type 2E	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21.
http://purl.obolibrary.org/obo/DOID_0110166	Charcot-Marie-Tooth disease axonal type 2H	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23.
http://purl.obolibrary.org/obo/DOID_0110167	Charcot-Marie-Tooth disease axonal type 2K	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q.
http://purl.obolibrary.org/obo/DOID_0110168	Charcot-Marie-Tooth disease type 2Y	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the VCP gene on chromosome 9p13.
http://purl.obolibrary.org/obo/DOID_0110169	Charcot-Marie-Tooth disease axonal type 2P	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33.
http://purl.obolibrary.org/obo/DOID_0110170	Charcot-Marie-Tooth disease axonal type 2Q	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14.
http://purl.obolibrary.org/obo/DOID_0110171	Charcot-Marie-Tooth disease axonal type 2S	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0110173	Charcot-Marie-Tooth disease axonal type 2U	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0110174	Charcot-Marie-Tooth disease axonal type 2L	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene.
http://purl.obolibrary.org/obo/DOID_0110175	Charcot-Marie-Tooth disease axonal type 2O	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.
http://purl.obolibrary.org/obo/DOID_0110176	Charcot-Marie-Tooth disease axonal type 2X	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21.
http://purl.obolibrary.org/obo/DOID_0110177	Charcot-Marie-Tooth disease axonal type 2N	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21.
http://purl.obolibrary.org/obo/DOID_0110178	Charcot-Marie-Tooth disease axonal type 2V	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0110179	Charcot-Marie-Tooth disease type 2B2	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene.
http://purl.obolibrary.org/obo/DOID_0110180	Charcot-Marie-Tooth disease axonal type 2CC	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12.
http://purl.obolibrary.org/obo/DOID_0110181	Charcot-Marie-Tooth disease axonal type 2Z	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MORC2 gene on chromosome 22q12.
http://purl.obolibrary.org/obo/DOID_0110182	Charcot-Marie-Tooth disease axonal type 2C	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.
http://purl.obolibrary.org/obo/DOID_0110183	Charcot-Marie-Tooth disease type 4C	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene.
http://purl.obolibrary.org/obo/DOID_0110184	Charcot-Marie-Tooth disease type 4J	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21.
http://purl.obolibrary.org/obo/DOID_0110185	Charcot-Marie-Tooth disease type 4A	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21.
http://purl.obolibrary.org/obo/DOID_0110186	Charcot-Marie-Tooth disease type 4D	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24.
http://purl.obolibrary.org/obo/DOID_0110187	Charcot-Marie-Tooth disease type 4K	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0110188	Leber congenital amaurosis 14	http://purl.obolibrary.org/obo/DOID_14791	Leber congenital amaurosis		A Leber congenital amaurosis that has_material_basis_in mutation in the LRAT gene on chromosome 4q31.
http://purl.obolibrary.org/obo/DOID_0110189	Leber congenital amaurosis 15	http://purl.obolibrary.org/obo/DOID_14791	Leber congenital amaurosis		A Leber congenital amaurosis that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21.3.
http://purl.obolibrary.org/obo/DOID_0110190	Charcot-Marie-Tooth disease type 4B2	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene.
http://purl.obolibrary.org/obo/DOID_0110191	Charcot-Marie-Tooth disease type 4B1	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2).
http://purl.obolibrary.org/obo/DOID_0110192	Charcot-Marie-Tooth disease type 4H	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4).
http://purl.obolibrary.org/obo/DOID_0110193	Charcot-Marie-Tooth disease type 4F	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the periaxin gene (PRX) on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0110194	Charcot-Marie-Tooth disease type 4B3	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q.
http://purl.obolibrary.org/obo/DOID_0110195	congenital hypomyelinating neuropathy 1	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital hypomyelinating neuropathy that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21.
http://purl.obolibrary.org/obo/DOID_0110196	Charcot-Marie-Tooth disease type 4G	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22.
http://purl.obolibrary.org/obo/DOID_0110197	Charcot-Marie-Tooth disease dominant intermediate B	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2).
http://purl.obolibrary.org/obo/DOID_0110198	Charcot-Marie-Tooth disease recessive intermediate C	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0110199	Charcot-Marie-Tooth disease dominant intermediate C	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35.
http://purl.obolibrary.org/obo/DOID_0110200	Charcot-Marie-Tooth disease dominant intermediate D	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.
http://purl.obolibrary.org/obo/DOID_0110201	Charcot-Marie-Tooth disease recessive intermediate A	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21.
http://purl.obolibrary.org/obo/DOID_0110202	Charcot-Marie-Tooth disease dominant intermediate A	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in variation in the region 10q24.1-q25.1.
http://purl.obolibrary.org/obo/DOID_0110203	Charcot-Marie-Tooth disease recessive intermediate D	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24.
http://purl.obolibrary.org/obo/DOID_0110204	Charcot-Marie-Tooth disease recessive intermediate B	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23.
http://purl.obolibrary.org/obo/DOID_0110205	Charcot-Marie-Tooth disease dominant intermediate E	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32.
http://purl.obolibrary.org/obo/DOID_0110206	Charcot-Marie-Tooth disease dominant intermediate F	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28.
http://purl.obolibrary.org/obo/DOID_0110207	Charcot-Marie-Tooth disease X-linked dominant 6	http://purl.obolibrary.org/obo/DOID_0080009	X-linked dominant disease		A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the PDK3 gene on chromosome Xp22.
http://purl.obolibrary.org/obo/DOID_0110208	Charcot-Marie-Tooth disease X-linked recessive 2	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xp22.2.
http://purl.obolibrary.org/obo/DOID_0110209	Charcot-Marie-Tooth disease X-linked dominant 1	http://purl.obolibrary.org/obo/DOID_0080009	X-linked dominant disease		A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13.
http://purl.obolibrary.org/obo/DOID_0110210	Charcot-Marie-Tooth disease X-linked recessive 5	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22.
http://purl.obolibrary.org/obo/DOID_0110211	Charcot-Marie-Tooth disease X-linked recessive 3	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xq26.
http://purl.obolibrary.org/obo/DOID_0110212	Charcot-Marie-Tooth disease X-linked recessive 4	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26.
http://purl.obolibrary.org/obo/DOID_0110213	isolated cleft palate	http://purl.obolibrary.org/obo/DOID_674	cleft palate		A cleft palate seen as an isolated malformation, distinct from cleft lip with or without cleft palate.
http://purl.obolibrary.org/obo/DOID_0110214	cleft soft palate	http://purl.obolibrary.org/obo/DOID_674	cleft palate		A cleft palate that is characterized as a fissure type embryopathy that affects in varying degrees the soft palate.
http://purl.obolibrary.org/obo/DOID_0110215	Leber congenital amaurosis 5	http://purl.obolibrary.org/obo/DOID_14791	Leber congenital amaurosis		A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1.
http://purl.obolibrary.org/obo/DOID_0110216	Leber congenital amaurosis 11	http://purl.obolibrary.org/obo/DOID_14791	Leber congenital amaurosis		A Leber congenital amaurosis that has_material_basis_in mutation n the IMPDH1 gene on chromosome 7q31.3-q32.
http://purl.obolibrary.org/obo/DOID_0110217	Leber congenital amaurosis 17	http://purl.obolibrary.org/obo/DOID_14791	Leber congenital amaurosis		A Leber congenital amaurosis that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22.
http://purl.obolibrary.org/obo/DOID_0110218	Brugada syndrome 1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN5A gene on chromosome 3p22.
http://purl.obolibrary.org/obo/DOID_0110219	Brugada syndrome 2	http://purl.obolibrary.org/obo/DOID_0050451	Brugada syndrome		A Brugada syndrome that has_material_basis_in heterozygous mutation in the GPD1L gene on chromosome 3p22.
http://purl.obolibrary.org/obo/DOID_0110220	Brugada syndrome 3	http://purl.obolibrary.org/obo/DOID_0050451	Brugada syndrome		A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the alpha-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) on chromosome 12p13.
http://purl.obolibrary.org/obo/DOID_0110221	Brugada syndrome 4	http://purl.obolibrary.org/obo/DOID_0050451	Brugada syndrome		A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12.
http://purl.obolibrary.org/obo/DOID_0110222	Brugada syndrome 5	http://purl.obolibrary.org/obo/DOID_0050451	Brugada syndrome		A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN1B gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0110223	Brugada syndrome 6	http://purl.obolibrary.org/obo/DOID_0050451	Brugada syndrome		A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCNE3 gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0110224	Brugada syndrome 7	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN3B gene on chromosome 11q24.
http://purl.obolibrary.org/obo/DOID_0110225	Brugada syndrome 8	http://purl.obolibrary.org/obo/DOID_0050451	Brugada syndrome		A Brugada syndrome that has_material_basis_in heterozygous mutation in the HCN4 gene on chromosome 15q24.
http://purl.obolibrary.org/obo/DOID_0110226	Brugada syndrome 9	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCND3 gene on chromosome 1p13.
http://purl.obolibrary.org/obo/DOID_0110227	cataract 32 multiple types	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in mutation in the region 14q22-q23.
http://purl.obolibrary.org/obo/DOID_0110228	cataract 8 multiple types	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in variation in the region 1pter-p36.13.
http://purl.obolibrary.org/obo/DOID_0110229	cataract 6 multiple types	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in heterozygous mutation in the EPHA2 gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0110230	cataract 34 multiple types	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in variation in the region 1p34.3-p32.2.
http://purl.obolibrary.org/obo/DOID_0110231	cataract 1 multiple types	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21.
http://purl.obolibrary.org/obo/DOID_0110232	cataract 29	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in variation in the region 2pter-p24.
http://purl.obolibrary.org/obo/DOID_0110233	cataract 27	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in mutation in the region 2p12.
http://purl.obolibrary.org/obo/DOID_0110234	cataract 4 multiple types	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33.
http://purl.obolibrary.org/obo/DOID_0110235	cataract 2 multiple types	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in heterozygous mutation in the CRYGC gene on chromosome 2q33.
http://purl.obolibrary.org/obo/DOID_0110236	cataract 39 multiple types	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in heterozygous mutation in the CRYGB gene on chromosome 2q34.
http://purl.obolibrary.org/obo/DOID_0110237	cataract 42	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35.
http://purl.obolibrary.org/obo/DOID_0110238	cataract 18	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in homozygous mutation in the FYCO1 gene on chromosome 3p21.3.
http://purl.obolibrary.org/obo/DOID_0110239	cataract 12 multiple types	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22.
http://purl.obolibrary.org/obo/DOID_0110240	cataract 20 multiple types	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in heterozygous mutation in the CRYGS gene on chromosome 3q27.
http://purl.obolibrary.org/obo/DOID_0110241	cataract 41	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in heterozygous mutation in the WFS1 gene on chromosome 4p16.
http://purl.obolibrary.org/obo/DOID_0110242	cataract 13 with adult i phenotype	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24.
http://purl.obolibrary.org/obo/DOID_0110243	cataract 46 juvenile-onset	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in homozygous mutation in the LEMD2 gene on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0110244	cataract 28	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in variation in the region 6p12-q12.
http://purl.obolibrary.org/obo/DOID_0110245	cataract 38	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in homozygous mutation in the AGK gene on chromosome 7q34.
http://purl.obolibrary.org/obo/DOID_0110246	cataract 26 multiple types	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in variation in the region 9q13-q22.
http://purl.obolibrary.org/obo/DOID_0110247	cataract 36	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in homozygous mutation in the TDRD7 gene on chromosome 9q22.33.
http://purl.obolibrary.org/obo/DOID_0110248	cataract 30	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in heterozygous mutation in the VIM gene on chromosome 10p13.
http://purl.obolibrary.org/obo/DOID_0110249	cataract 11 multiple types	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24.
http://purl.obolibrary.org/obo/DOID_0110250	cataract 16 multiple types	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q.
http://purl.obolibrary.org/obo/DOID_0110251	cataract 15 multiple types	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in heterozygous mutation in the MIP gene on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0110252	cataract 37	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in variation in the region 12q24.2-q24.3.
http://purl.obolibrary.org/obo/DOID_0110253	cataract 14 multiple types	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in heterozygous mutation in the gene encoding gap junction protein alpha-3 (GJA3) on chromosome 13q12.
http://purl.obolibrary.org/obo/DOID_0110254	cataract 25	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in variation in the region 15q21-q22.
http://purl.obolibrary.org/obo/DOID_0110255	cataract 5 multiple types	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (HSF4) on chromosome 16q22.
http://purl.obolibrary.org/obo/DOID_0110256	cataract 21 multiple types	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in heterozygous mutation in the MAF gene on chromosome 16q23.
http://purl.obolibrary.org/obo/DOID_0110257	cataract 24	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in variation in the region 17p13.
http://purl.obolibrary.org/obo/DOID_0110258	cataract 10 multiple types	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in heterozygous mutation in the CRYBA1 gene on chromosome 17q11.
http://purl.obolibrary.org/obo/DOID_0110259	cataract 43	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in heterozygous mutation in the UNC45B gene on chromosome 17q12.
http://purl.obolibrary.org/obo/DOID_0110260	cataract 7	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in variation in the region 17q24.
http://purl.obolibrary.org/obo/DOID_0110261	cataract 35	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in variation in the region 19q13.
http://purl.obolibrary.org/obo/DOID_0110262	cataract 45	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in homozygous mutation in the SIPA1L3 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0110263	cataract 19 multiple types	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in homozygous mutation in the LIM2 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0110264	cataract 33	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in homozygous mutation in the beaded filament structural protein-1 gene (BFSP1) on chromosome 20p12.
http://purl.obolibrary.org/obo/DOID_0110265	cataract 31 multiple types	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in heterozygous mutation in the CHMP4B gene on chromosome 20q11.
http://purl.obolibrary.org/obo/DOID_0110266	cataract 9 multiple types	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22.
http://purl.obolibrary.org/obo/DOID_0110267	cataract 44	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in homozygous mutation in the LSS gene on chromosome 21q22.
http://purl.obolibrary.org/obo/DOID_0110268	cataract 22 multiple types	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11.
http://purl.obolibrary.org/obo/DOID_0110269	cataract 3 multiple types	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in heterozygous mutation in the beta-B2-crystallin gene (CRYBB2) on chromosome 22q11.
http://purl.obolibrary.org/obo/DOID_0110270	cataract 17 multiple types	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12.
http://purl.obolibrary.org/obo/DOID_0110271	cataract 23	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in heterozygous mutation in the crystallin beta-A4 gene (CRYBA4) on chromosome 22q12.
http://purl.obolibrary.org/obo/DOID_0110272	cataract 40	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in mutation in the NHS gene on chromosome Xp22.
http://purl.obolibrary.org/obo/DOID_0110273	autosomal dominant limb-girdle muscular dystrophy	http://purl.obolibrary.org/obo/DOID_11724	limb-girdle muscular dystrophy		A limb-girdle muscular dystrophy that has_material_basis_in autosomal dominant inheritance.
http://purl.obolibrary.org/obo/DOID_0110274	autosomal recessive limb-girdle muscular dystrophy	http://purl.obolibrary.org/obo/DOID_11724	limb-girdle muscular dystrophy		A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance.
http://purl.obolibrary.org/obo/DOID_0110275	autosomal recessive limb-girdle muscular dystrophy type 2A	http://purl.obolibrary.org/obo/DOID_0110274	autosomal recessive limb-girdle muscular dystrophy		An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15.
http://purl.obolibrary.org/obo/DOID_0110276	autosomal recessive limb-girdle muscular dystrophy type 2B	http://purl.obolibrary.org/obo/DOID_0110274	autosomal recessive limb-girdle muscular dystrophy		An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13.
http://purl.obolibrary.org/obo/DOID_0110277	autosomal recessive limb-girdle muscular dystrophy type 2C	http://purl.obolibrary.org/obo/DOID_0110274	autosomal recessive limb-girdle muscular dystrophy		An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12.
http://purl.obolibrary.org/obo/DOID_0110278	autosomal recessive limb-girdle muscular dystrophy type 2D	http://purl.obolibrary.org/obo/DOID_0110274	autosomal recessive limb-girdle muscular dystrophy		An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA) on chromosome 17q.
http://purl.obolibrary.org/obo/DOID_0110279	autosomal recessive limb-girdle muscular dystrophy type 2E	http://purl.obolibrary.org/obo/DOID_0110274	autosomal recessive limb-girdle muscular dystrophy		An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12.
http://purl.obolibrary.org/obo/DOID_0110280	autosomal recessive limb-girdle muscular dystrophy type 2F	http://purl.obolibrary.org/obo/DOID_0110274	autosomal recessive limb-girdle muscular dystrophy		An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the sarcoglycan-delta gene (SGCD).
http://purl.obolibrary.org/obo/DOID_0110281	autosomal recessive limb-girdle muscular dystrophy type 2G	http://purl.obolibrary.org/obo/DOID_0110274	autosomal recessive limb-girdle muscular dystrophy		An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP).
http://purl.obolibrary.org/obo/DOID_0110282	autosomal recessive limb-girdle muscular dystrophy type 2H	http://purl.obolibrary.org/obo/DOID_0110274	autosomal recessive limb-girdle muscular dystrophy		An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q.
http://purl.obolibrary.org/obo/DOID_0110283	autosomal recessive limb-girdle muscular dystrophy type 2J	http://purl.obolibrary.org/obo/DOID_0110274	autosomal recessive limb-girdle muscular dystrophy		An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN).
http://purl.obolibrary.org/obo/DOID_0110284	autosomal recessive limb-girdle muscular dystrophy type 2L	http://purl.obolibrary.org/obo/DOID_0110274	autosomal recessive limb-girdle muscular dystrophy		An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14.
http://purl.obolibrary.org/obo/DOID_0110285	autosomal recessive limb-girdle muscular dystrophy type 2Q	http://purl.obolibrary.org/obo/DOID_0110274	autosomal recessive limb-girdle muscular dystrophy		An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene.
http://purl.obolibrary.org/obo/DOID_0110287	autosomal recessive limb-girdle muscular dystrophy type 2S	http://purl.obolibrary.org/obo/DOID_0110274	autosomal recessive limb-girdle muscular dystrophy		An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35.
http://purl.obolibrary.org/obo/DOID_0110288	autosomal recessive limb-girdle muscular dystrophy type 2W	http://purl.obolibrary.org/obo/DOID_0110274	autosomal recessive limb-girdle muscular dystrophy		An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in compound heterozygous mutation in the LIM zinc finger domain containing 2 gene (LIMS2) on chromosome 2q14.
http://purl.obolibrary.org/obo/DOID_0110289	autosomal recessive limb-girdle muscular dystrophy type 2Y	http://purl.obolibrary.org/obo/DOID_0110274	autosomal recessive limb-girdle muscular dystrophy		An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24.
http://purl.obolibrary.org/obo/DOID_0110290	autosomal recessive limb-girdle muscular dystrophy type 2X	http://purl.obolibrary.org/obo/DOID_0110274	autosomal recessive limb-girdle muscular dystrophy		An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21.
http://purl.obolibrary.org/obo/DOID_0110291	Leber congenital amaurosis 10	http://purl.obolibrary.org/obo/DOID_14791	Leber congenital amaurosis		A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32.
http://purl.obolibrary.org/obo/DOID_0110292	autosomal recessive limb-girdle muscular dystrophy type 2O	http://purl.obolibrary.org/obo/DOID_0110274	autosomal recessive limb-girdle muscular dystrophy		An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34.
http://purl.obolibrary.org/obo/DOID_0110293	autosomal recessive limb-girdle muscular dystrophy type 2P	http://purl.obolibrary.org/obo/DOID_0110274	autosomal recessive limb-girdle muscular dystrophy		An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21.
http://purl.obolibrary.org/obo/DOID_0110294	autosomal recessive limb-girdle muscular dystrophy type 2T	http://purl.obolibrary.org/obo/DOID_0110274	autosomal recessive limb-girdle muscular dystrophy		An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21.
http://purl.obolibrary.org/obo/DOID_0110295	autosomal recessive limb-girdle muscular dystrophy type 2U	http://purl.obolibrary.org/obo/DOID_0110274	autosomal recessive limb-girdle muscular dystrophy		An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21.
http://purl.obolibrary.org/obo/DOID_0110296	autosomal recessive limb-girdle muscular dystrophy type 2M	http://purl.obolibrary.org/obo/DOID_0110274	autosomal recessive limb-girdle muscular dystrophy		An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31.
http://purl.obolibrary.org/obo/DOID_0110297	autosomal recessive limb-girdle muscular dystrophy type 2K	http://purl.obolibrary.org/obo/DOID_0110274	autosomal recessive limb-girdle muscular dystrophy		An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1).
http://purl.obolibrary.org/obo/DOID_0110298	autosomal recessive limb-girdle muscular dystrophy type 2N	http://purl.obolibrary.org/obo/DOID_0110274	autosomal recessive limb-girdle muscular dystrophy		An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3.
http://purl.obolibrary.org/obo/DOID_0110299	autosomal recessive limb-girdle muscular dystrophy type 2I	http://purl.obolibrary.org/obo/DOID_0110274	autosomal recessive limb-girdle muscular dystrophy		An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3.
http://purl.obolibrary.org/obo/DOID_0110303	autosomal dominant limb-girdle muscular dystrophy type 1H	http://purl.obolibrary.org/obo/DOID_0110273	autosomal dominant limb-girdle muscular dystrophy		An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in variation in the region 3p25.1-p23.
http://purl.obolibrary.org/obo/DOID_0110304	autosomal dominant limb-girdle muscular dystrophy type 2	http://purl.obolibrary.org/obo/DOID_0110273	autosomal dominant limb-girdle muscular dystrophy		An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32.
http://purl.obolibrary.org/obo/DOID_0110305	autosomal dominant limb-girdle muscular dystrophy type 1	http://purl.obolibrary.org/obo/DOID_0110273	autosomal dominant limb-girdle muscular dystrophy		An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36.
http://purl.obolibrary.org/obo/DOID_0110306	autosomal dominant limb-girdle muscular dystrophy type 3	http://purl.obolibrary.org/obo/DOID_0110273	autosomal dominant limb-girdle muscular dystrophy		An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the HNRNPDL gene on chromosome 4q21.
http://purl.obolibrary.org/obo/DOID_0110307	hypertrophic cardiomyopathy 1	http://purl.obolibrary.org/obo/DOID_0080326	familial hypertrophic cardiomyopathy		A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12.
http://purl.obolibrary.org/obo/DOID_0110308	hypertrophic cardiomyopathy 2	http://purl.obolibrary.org/obo/DOID_0080326	familial hypertrophic cardiomyopathy		A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the cardiac troponin-T2 gene (TNNT2).
http://purl.obolibrary.org/obo/DOID_0110309	hypertrophic cardiomyopathy 3	http://purl.obolibrary.org/obo/DOID_0080326	familial hypertrophic cardiomyopathy		A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the alpha-tropomyosin gene (TPM1) on chromosome 15q22.
http://purl.obolibrary.org/obo/DOID_0110310	hypertrophic cardiomyopathy 4	http://purl.obolibrary.org/obo/DOID_0080326	familial hypertrophic cardiomyopathy		A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11.
http://purl.obolibrary.org/obo/DOID_0110311	hypertrophic cardiomyopathy 21	http://purl.obolibrary.org/obo/DOID_0080326	familial hypertrophic cardiomyopathy		A familial hypertrophic cardiomyopathy associated that has_material_basis_in region 7p12.1-q21 variation.
http://purl.obolibrary.org/obo/DOID_0110312	hypertrophic cardiomyopathy 6	http://purl.obolibrary.org/obo/DOID_0080326	familial hypertrophic cardiomyopathy		A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2).
http://purl.obolibrary.org/obo/DOID_0110313	hypertrophic cardiomyopathy 7	http://purl.obolibrary.org/obo/DOID_0080326	familial hypertrophic cardiomyopathy		A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.4.
http://purl.obolibrary.org/obo/DOID_0110314	hypertrophic cardiomyopathy 8	http://purl.obolibrary.org/obo/DOID_0080326	familial hypertrophic cardiomyopathy		A familial hypertrophic cardiomyopathy that has_material_basis_in homozygous or heterozygous mutation in the MYL3 gene.
http://purl.obolibrary.org/obo/DOID_0110315	hypertrophic cardiomyopathy 9	http://purl.obolibrary.org/obo/DOID_0080326	familial hypertrophic cardiomyopathy		A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31.
http://purl.obolibrary.org/obo/DOID_0110316	hypertrophic cardiomyopathy 10	http://purl.obolibrary.org/obo/DOID_0080326	familial hypertrophic cardiomyopathy		A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYL2 gene.
http://purl.obolibrary.org/obo/DOID_0110317	hypertrophic cardiomyopathy 11	http://purl.obolibrary.org/obo/DOID_0080326	familial hypertrophic cardiomyopathy		A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14.
http://purl.obolibrary.org/obo/DOID_0110318	hypertrophic cardiomyopathy 12	http://purl.obolibrary.org/obo/DOID_0080326	familial hypertrophic cardiomyopathy		A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the CSRP3 gene on chromosome 11p15.
http://purl.obolibrary.org/obo/DOID_0110319	hypertrophic cardiomyopathy 13	http://purl.obolibrary.org/obo/DOID_0080326	familial hypertrophic cardiomyopathy		A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNC1 gene on chromosome 3p21.
http://purl.obolibrary.org/obo/DOID_0110320	hypertrophic cardiomyopathy 14	http://purl.obolibrary.org/obo/DOID_0080326	familial hypertrophic cardiomyopathy		A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYH6 gene.
http://purl.obolibrary.org/obo/DOID_0110321	hypertrophic cardiomyopathy 15	http://purl.obolibrary.org/obo/DOID_0080326	familial hypertrophic cardiomyopathy		A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the vinculin gene (VCL) on chromosome 10q22.
http://purl.obolibrary.org/obo/DOID_0110322	hypertrophic cardiomyopathy 16	http://purl.obolibrary.org/obo/DOID_0080326	familial hypertrophic cardiomyopathy		A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYOZ2 gene on chromosome 4q26.
http://purl.obolibrary.org/obo/DOID_0110323	hypertrophic cardiomyopathy 17	http://purl.obolibrary.org/obo/DOID_0080326	familial hypertrophic cardiomyopathy		A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12.
http://purl.obolibrary.org/obo/DOID_0110324	hypertrophic cardiomyopathy 18	http://purl.obolibrary.org/obo/DOID_0080326	familial hypertrophic cardiomyopathy		A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding phospholamban (PLN) on chromosome 6q22.1.
http://purl.obolibrary.org/obo/DOID_0110326	hypertrophic cardiomyopathy 20	http://purl.obolibrary.org/obo/DOID_0080326	familial hypertrophic cardiomyopathy		A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the NEXN gene on chromosome 1p31.1.
http://purl.obolibrary.org/obo/DOID_0110327	hypertrophic cardiomyopathy 26	http://purl.obolibrary.org/obo/DOID_0080326	familial hypertrophic cardiomyopathy		A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32.
http://purl.obolibrary.org/obo/DOID_0110328	hypertrophic cardiomyopathy 25	http://purl.obolibrary.org/obo/DOID_0080326	familial hypertrophic cardiomyopathy		A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TCAP gene on chromosome 17q12.
http://purl.obolibrary.org/obo/DOID_0110329	Leber congenital amaurosis 6	http://purl.obolibrary.org/obo/DOID_14791	Leber congenital amaurosis		A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.
http://purl.obolibrary.org/obo/DOID_0110330	Leber congenital amaurosis 13	http://purl.obolibrary.org/obo/DOID_14791	Leber congenital amaurosis		A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3.
http://purl.obolibrary.org/obo/DOID_0110331	Leber congenital amaurosis 3	http://purl.obolibrary.org/obo/DOID_14791	Leber congenital amaurosis		A Leber congenital amaurosis that has_material_basis_in mutation in the SPATA7 gene on chromosome 14q31.
http://purl.obolibrary.org/obo/DOID_0110332	Leber congenital amaurosis 4	http://purl.obolibrary.org/obo/DOID_14791	Leber congenital amaurosis		A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0110333	Leber congenital amaurosis 7	http://purl.obolibrary.org/obo/DOID_14791	Leber congenital amaurosis		A Leber congenital amaurosis that has_material_basis_in mutation in the CRX gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0110334	osteogenesis imperfecta type 1	http://purl.obolibrary.org/obo/DOID_12347	osteogenesis imperfecta		An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.
http://purl.obolibrary.org/obo/DOID_0110335	osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures	http://purl.obolibrary.org/obo/DOID_12347	osteogenesis imperfecta		An osteogenesis imperfecta found in a single South African family.
http://purl.obolibrary.org/obo/DOID_0110336	osteogenesis imperfecta type 8	http://purl.obolibrary.org/obo/DOID_12347	osteogenesis imperfecta		An osteogenesis imperfecta that has_material_basis_in mutation in the P3H1 gene on chromosome 1p34.2.
http://purl.obolibrary.org/obo/DOID_0110337	osteogenesis imperfecta type 7	http://purl.obolibrary.org/obo/DOID_12347	osteogenesis imperfecta		An osteogenesis imperfecta that has_material_basis_in mutation in the CRTAP gene on chromosome 3p22.
http://purl.obolibrary.org/obo/DOID_0110338	osteogenesis imperfecta type 17	http://purl.obolibrary.org/obo/DOID_12347	osteogenesis imperfecta		An osteogenesis imperfecta that has_material_basis_in mutation in the SPARC gene on chromosome 5q33.
http://purl.obolibrary.org/obo/DOID_0110339	osteogenesis imperfecta type 3	http://purl.obolibrary.org/obo/DOID_12347	osteogenesis imperfecta		An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.
http://purl.obolibrary.org/obo/DOID_0110340	osteogenesis imperfecta type 4	http://purl.obolibrary.org/obo/DOID_12347	osteogenesis imperfecta		An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.
http://purl.obolibrary.org/obo/DOID_0110341	osteogenesis imperfecta type 2	http://purl.obolibrary.org/obo/DOID_12347	osteogenesis imperfecta		An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.
http://purl.obolibrary.org/obo/DOID_0110342	osteogenesis imperfecta type 13	http://purl.obolibrary.org/obo/DOID_12347	osteogenesis imperfecta		An osteogenesis imperfecta that has_material_basis_in mutation in the BMP1 gene on chromosome 8p21.
http://purl.obolibrary.org/obo/DOID_0110343	osteogenesis imperfecta type 14	http://purl.obolibrary.org/obo/DOID_12347	osteogenesis imperfecta		An osteogenesis imperfecta that has_material_basis_in mutation in the TMEM38B gene on chromosome 9q31.
http://purl.obolibrary.org/obo/DOID_0110344	osteogenesis imperfecta type 5	http://purl.obolibrary.org/obo/DOID_12347	osteogenesis imperfecta		An osteogenesis imperfecta that has_material_basis_in mutation in the IFITM5 gene on chromosome 11p15.
http://purl.obolibrary.org/obo/DOID_0110345	osteogenesis imperfecta type 16	http://purl.obolibrary.org/obo/DOID_12347	osteogenesis imperfecta		An osteogenesis imperfecta that has_material_basis_in contiguous gene deletion on chromosome 11p11.
http://purl.obolibrary.org/obo/DOID_0110346	osteogenesis imperfecta type 10	http://purl.obolibrary.org/obo/DOID_12347	osteogenesis imperfecta		An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINH gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0110347	osteogenesis imperfecta type 15	http://purl.obolibrary.org/obo/DOID_12347	osteogenesis imperfecta		An osteogenesis imperfecta that has_material_basis_in mutation in the WNT1 gene on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0110348	osteogenesis imperfecta type 12	http://purl.obolibrary.org/obo/DOID_12347	osteogenesis imperfecta		An osteogenesis imperfecta that has_material_basis_in mutation in the SP7 gene on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0110349	osteogenesis imperfecta type 9	http://purl.obolibrary.org/obo/DOID_12347	osteogenesis imperfecta		An osteogenesis imperfecta that has_material_basis_in mutation in the PPIB gene on chromosome 15q22.
http://purl.obolibrary.org/obo/DOID_0110350	osteogenesis imperfecta type 6	http://purl.obolibrary.org/obo/DOID_12347	osteogenesis imperfecta		An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINF1 gene on chromosome 17p13.3.
http://purl.obolibrary.org/obo/DOID_0110351	osteogenesis imperfecta type 11	http://purl.obolibrary.org/obo/DOID_12347	osteogenesis imperfecta		An osteogenesis imperfecta that has_material_basis_in mutation in the FKBP10 gene on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0110352	retinitis pigmentosa 59	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the DHDDS gene on chromosome 1p36.11.
http://purl.obolibrary.org/obo/DOID_0110353	retinitis pigmentosa 20	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the RPE65 gene on chromosome 1p31.
http://purl.obolibrary.org/obo/DOID_0110354	retinitis pigmentosa 19	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the ABCA4 gene on chromosome 1p22.
http://purl.obolibrary.org/obo/DOID_0110355	retinitis pigmentosa 32	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_inhomozygous mutation in the CLCC1 gene on chromosome 1p13.
http://purl.obolibrary.org/obo/DOID_0110356	retinitis pigmentosa 18	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the PRPF3 gene on chromosome 1q21.
http://purl.obolibrary.org/obo/DOID_0110357	retinitis pigmentosa 35	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the SEMA4A gene on chromosome 1q22.
http://purl.obolibrary.org/obo/DOID_0110358	retinitis pigmentosa 12	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the CRB1 gene on chromosome 1q31.3.
http://purl.obolibrary.org/obo/DOID_0110359	retinitis pigmentosa 67	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the NEK2 gene on chromosome 1q32.
http://purl.obolibrary.org/obo/DOID_0110360	retinitis pigmentosa 39	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the USH2A gene on chromosome 1q41.
http://purl.obolibrary.org/obo/DOID_0110361	retinitis pigmentosa 75	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the AGBL5 gene on chromosome 2p23.
http://purl.obolibrary.org/obo/DOID_0110362	retinitis pigmentosa 58	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the ZNF513 gene on chromosome 2p23.
http://purl.obolibrary.org/obo/DOID_0110363	retinitis pigmentosa 71	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the IFT172 gene on chromosome 2p23.
http://purl.obolibrary.org/obo/DOID_0110364	retinitis pigmentosa 54	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the C2ORF71 gene on chromosome 2p23.
http://purl.obolibrary.org/obo/DOID_0110365	retinitis pigmentosa 28	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the FAM161A gene on chromosome 2p15.
http://purl.obolibrary.org/obo/DOID_0110366	retinitis pigmentosa 33	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the SNRNP200 gene on chromosome 2q11.
http://purl.obolibrary.org/obo/DOID_0110367	retinitis pigmentosa 38	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the MERTK gene on chromosome 2q13.
http://purl.obolibrary.org/obo/DOID_0110368	retinitis pigmentosa 26	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the CERKL gene on chromosome 2q31.
http://purl.obolibrary.org/obo/DOID_0110369	retinitis pigmentosa 47	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the SAG gene on chromosome 2q37.
http://purl.obolibrary.org/obo/DOID_0110370	retinitis pigmentosa 55	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the ARL6 gene on chromosome 3q11.2.
http://purl.obolibrary.org/obo/DOID_0110371	retinitis pigmentosa 56	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the IMPG2 gene on chromosome 3q12.3.
http://purl.obolibrary.org/obo/DOID_0110372	retinitis pigmentosa 4	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the RHO gene on chromosome 3q22.
http://purl.obolibrary.org/obo/DOID_0110373	retinitis pigmentosa 61	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the CLRN1 gene on chromosome 3q25.
http://purl.obolibrary.org/obo/DOID_0110374	retinitis pigmentosa 68	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the SLC7A14 gene on chromosome 3q26.
http://purl.obolibrary.org/obo/DOID_0110375	retinitis pigmentosa 40	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the PDE6B gene on chromosome 4p16.
http://purl.obolibrary.org/obo/DOID_0110376	retinitis pigmentosa 41	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the PROM1 gene on chromosome 4p15.
http://purl.obolibrary.org/obo/DOID_0110377	retinitis pigmentosa 49	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the CNGA1 gene on chromosome 4p12.
http://purl.obolibrary.org/obo/DOID_0110378	retinitis pigmentosa 29	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 4q32-q34.
http://purl.obolibrary.org/obo/DOID_0110379	retinitis pigmentosa 43	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the PDE6A gene on chromosome 5q31-q33.
http://purl.obolibrary.org/obo/DOID_0110380	retinitis pigmentosa 62	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the MAK gene on chromosome 6p24.2.
http://purl.obolibrary.org/obo/DOID_0110381	retinitis pigmentosa 14	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0110382	retinitis pigmentosa 48	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the GUCA1B gene on chromosome 6p21.1.
http://purl.obolibrary.org/obo/DOID_0110383	retinitis pigmentosa 7	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the PRPH2 gene on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0110384	retinitis pigmentosa 25	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the EYS gene on chromosome 6q12.
http://purl.obolibrary.org/obo/DOID_0110385	retinitis pigmentosa 63	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 6q23.
http://purl.obolibrary.org/obo/DOID_0110386	retinitis pigmentosa 42	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the KLHL7 gene on chromosome 7p15.3.
http://purl.obolibrary.org/obo/DOID_0110387	retinitis pigmentosa 9	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the RP9 gene on chromosome 7p14.
http://purl.obolibrary.org/obo/DOID_0110388	retinitis pigmentosa 10	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the IMPDH1 gene on chromosome 7q32.
http://purl.obolibrary.org/obo/DOID_0110389	retinitis pigmentosa 73	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the HGSNAT gene on chromosome 8p11.
http://purl.obolibrary.org/obo/DOID_0110390	retinitis pigmentosa 1	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the RP1 gene on chromosome 8q12.
http://purl.obolibrary.org/obo/DOID_0110391	retinitis pigmentosa 31	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the TOPORS gene on chromosome 9p21.
http://purl.obolibrary.org/obo/DOID_0110392	retinitis pigmentosa 70	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the PRPF4 gene on chromosome 9q32.
http://purl.obolibrary.org/obo/DOID_0110393	retinitis pigmentosa 66	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the RBP3 gene on chromosome 10q11.
http://purl.obolibrary.org/obo/DOID_0110394	retinitis pigmentosa 44	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the RGR gene on chromosome 10q23.
http://purl.obolibrary.org/obo/DOID_0110395	retinitis pigmentosa 72	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the ZNF408 gene on chromosome 11p11.
http://purl.obolibrary.org/obo/DOID_0110396	retinitis pigmentosa 50	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the BEST1 gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0110397	retinitis pigmentosa 27	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the NRL gene on chromosome 14q11.
http://purl.obolibrary.org/obo/DOID_0110398	retinitis pigmentosa 51	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the TTC8 gene on chromosome 14q31.
http://purl.obolibrary.org/obo/DOID_0110399	retinitis pigmentosa 37	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the NR2E3 gene on chromosome 15q23.
http://purl.obolibrary.org/obo/DOID_0110400	retinitis pigmentosa 22	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 16p12.3-p12.1.
http://purl.obolibrary.org/obo/DOID_0110401	retinitis pigmentosa 74	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the BBS2 gene on chromosome 16q13.
http://purl.obolibrary.org/obo/DOID_0110402	retinitis pigmentosa 45	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the CNGB1 gene on chromosome 16q13.
http://purl.obolibrary.org/obo/DOID_0110403	retinitis pigmentosa 13	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutations in the PRPF8 gene on chromosome 17p13.3.
http://purl.obolibrary.org/obo/DOID_0110404	retinitis pigmentosa 17	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa characterized by relatively mild disease, with decreased visual acuity, visual field constriction, nyctalopia, and slow progression that has_material_basis_in duplication or triplication in the chromosome 17q22-q23 region that results in disruption of topologically associated domains (TADs) and increased retinal expression of GDPD1.
http://purl.obolibrary.org/obo/DOID_0110405	retinitis pigmentosa 36	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the PRCD gene on chromosome 17q25.
http://purl.obolibrary.org/obo/DOID_0110406	retinitis pigmentosa 30	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the FSCN2 gene on chromosome 17q25.
http://purl.obolibrary.org/obo/DOID_0110407	retinitis pigmentosa 57	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the PDE6G gene on chromosome 17q25.3.
http://purl.obolibrary.org/obo/DOID_0110408	retinitis pigmentosa 11	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the PRPF31 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0110409	retinitis pigmentosa 46	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the IDH3B gene on chromosome 20p13.
http://purl.obolibrary.org/obo/DOID_0110410	retinitis pigmentosa 69	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the KIZ gene on chromosome 20p11.
http://purl.obolibrary.org/obo/DOID_0110411	retinitis pigmentosa 60	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the PRPF6 gene on chromosome 20q13.33.
http://purl.obolibrary.org/obo/DOID_0110412	retinitis pigmentosa 23	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22.
http://purl.obolibrary.org/obo/DOID_0110413	retinitis pigmentosa 6	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xp21.3-p21.2.
http://purl.obolibrary.org/obo/DOID_0110414	retinitis pigmentosa 3	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.
http://purl.obolibrary.org/obo/DOID_0110415	retinitis pigmentosa 2	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the RP2 gene on chromosome Xp11.3.
http://purl.obolibrary.org/obo/DOID_0110416	retinitis pigmentosa 24	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq26-q27.
http://purl.obolibrary.org/obo/DOID_0110417	retinitis pigmentosa 34	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq28.
http://purl.obolibrary.org/obo/DOID_0110418	retinitis pigmentosa Y-linked	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in variation on the Y chromosome.
http://purl.obolibrary.org/obo/DOID_0110419	retinitis pigmentosa with or without situs inversus	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the ARL2BP gene on chromosome 16q13.
http://purl.obolibrary.org/obo/DOID_0110420	dominant pericentral pigmentary retinopathy	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life.
http://purl.obolibrary.org/obo/DOID_0110421	late-adult onset retinitis pigmentosa	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life.
http://purl.obolibrary.org/obo/DOID_0110422	autosomal recessive pericentral pigmentary retinopathy	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy.
http://purl.obolibrary.org/obo/DOID_0110423	dilated cardiomyopathy 1C	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the LDB3 gene on chromosome 10q23.2.
http://purl.obolibrary.org/obo/DOID_0110424	dilated cardiomyopathy 1CC	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the NEXN gene on chromosome 1p31.1.
http://purl.obolibrary.org/obo/DOID_0110425	dilated cardiomyopathy 1A	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.
http://purl.obolibrary.org/obo/DOID_0110426	dilated cardiomyopathy 1D	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the TNNT2 gene on chromosome 1q32.
http://purl.obolibrary.org/obo/DOID_0110427	dilated cardiomyopathy 1V	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN2 gene on chromosome 1q31-q42.
http://purl.obolibrary.org/obo/DOID_0110428	dilated cardiomyopathy 1AA	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the ACTN2 gene on chromosome 1q43.
http://purl.obolibrary.org/obo/DOID_0110429	dilated cardiomyopathy 1H	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22.
http://purl.obolibrary.org/obo/DOID_0110430	dilated cardiomyopathy 1G	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the TTN gene on chromosome 2q31.
http://purl.obolibrary.org/obo/DOID_0110431	dilated cardiomyopathy 1I	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the DES gene on chromosome 2q35.
http://purl.obolibrary.org/obo/DOID_0110432	dilated cardiomyopathy 1NN	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the RAF1 gene on chromosome 3p25.
http://purl.obolibrary.org/obo/DOID_0110433	dilated cardiomyopathy 1E	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the SCN5A gene on chromosome 3p22.2.
http://purl.obolibrary.org/obo/DOID_0110434	dilated cardiomyopathy 1Z	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the TNNC1 gene on chromosome 3p.
http://purl.obolibrary.org/obo/DOID_0110435	dilated cardiomyopathy 1GG	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the SDHA gene on chromosome 5p15.33.
http://purl.obolibrary.org/obo/DOID_0110436	dilated cardiomyopathy 1L	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutations in the SGCD gene on chromosome 5q33.2-q33.3.
http://purl.obolibrary.org/obo/DOID_0110437	dilated cardiomyopathy 1K	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 6q12-q16.
http://purl.obolibrary.org/obo/DOID_0110438	dilated cardiomyopathy 1JJ	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the LAMA4 gene on chromosome 6q21.
http://purl.obolibrary.org/obo/DOID_0110439	dilated cardiomyopathy 1P	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the PLN gene on chromosome 6q22.
http://purl.obolibrary.org/obo/DOID_0110440	dilated cardiomyopathy 1J	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.2.
http://purl.obolibrary.org/obo/DOID_0110441	dilated cardiomyopathy 2B	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the GATAD1 gene on chromosome 7q21.
http://purl.obolibrary.org/obo/DOID_0110442	dilated cardiomyopathy 1Q	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 7q22.3-q31.1.
http://purl.obolibrary.org/obo/DOID_0110443	dilated cardiomyopathy 1B	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 9q13.
http://purl.obolibrary.org/obo/DOID_0110444	dilated cardiomyopathy 1X	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31.
http://purl.obolibrary.org/obo/DOID_0110445	dilated cardiomyopathy 1KK	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the MYPN gene on chromosome 10q21.
http://purl.obolibrary.org/obo/DOID_0110446	dilated cardiomyopathy 1W	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the VCL gene on chromosome 10q22.2.
http://purl.obolibrary.org/obo/DOID_0110447	dilated cardiomyopathy 1DD	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the RBM20 gene on chromosome 10q25.
http://purl.obolibrary.org/obo/DOID_0110448	dilated cardiomyopathy 1HH	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the BAG3 gene on chromosome 10q26.11.
http://purl.obolibrary.org/obo/DOID_0110449	dilated cardiomyopathy 1M	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the CSRP3 gene on chromosome 11p15.
http://purl.obolibrary.org/obo/DOID_0110450	dilated cardiomyopathy 1II	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the CRYAB gene on chromosome 11q23.
http://purl.obolibrary.org/obo/DOID_0110451	dilated cardiomyopathy 1O	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1.
http://purl.obolibrary.org/obo/DOID_0110452	dilated cardiomyopathy 1T	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the TMPO gene on chromosome 12q22.
http://purl.obolibrary.org/obo/DOID_0110453	dilated cardiomyopathy 1EE	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the MYH6 gene on chromosome 14q11.2.
http://purl.obolibrary.org/obo/DOID_0110454	dilated cardiomyopathy 1S	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12.
http://purl.obolibrary.org/obo/DOID_0110455	dilated cardiomyopathy 1U	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN1 gene on chromosome 14q24.3.
http://purl.obolibrary.org/obo/DOID_0110456	dilated cardiomyopathy 1R	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the ACTC1 gene on chromosome 15q14.
http://purl.obolibrary.org/obo/DOID_0110457	dilated cardiomyopathy 1Y	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the TPM1 gene on chromosome 15q22.1.
http://purl.obolibrary.org/obo/DOID_0110458	dilated cardiomyopathy 1BB	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation the DSG2 gene on chromosome 18q12.1.
http://purl.obolibrary.org/obo/DOID_0110459	dilated cardiomyopathy 1FF	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.42.
http://purl.obolibrary.org/obo/DOID_0110460	dilated cardiomyopathy 2A	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0110461	dilated cardiomyopathy 3B	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation in the dystrophin (DMD) gene encoding dystrophin on chromosome Xp21.
http://purl.obolibrary.org/obo/DOID_0110462	autosomal recessive nonsyndromic deafness 101	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GRXCR2 gene on chromosome 5q32.
http://purl.obolibrary.org/obo/DOID_0110463	autosomal recessive nonsyndromic deafness 102	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the EPS8 gene on chromosome 12p12.
http://purl.obolibrary.org/obo/DOID_0110464	autosomal recessive nonsyndromic deafness 103	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CLIC5 gene on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0110465	autosomal recessive nonsyndromic deafness 104	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the FAM65B gene on chromosome 6p22.
http://purl.obolibrary.org/obo/DOID_0110467	autosomal recessive nonsyndromic deafness 12	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CDH23 gene on chromosome 10q22.
http://purl.obolibrary.org/obo/DOID_0110468	autosomal recessive nonsyndromic deafness 13	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 7q34-q36.
http://purl.obolibrary.org/obo/DOID_0110469	autosomal recessive nonsyndromic deafness 14	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S554 and D7S2459 in the chromosome region 7q31.
http://purl.obolibrary.org/obo/DOID_0110470	autosomal recessive nonsyndromic deafness 15	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GIPC3 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0110471	autosomal recessive nonsyndromic deafness 16	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the STRC gene on chromosome 15q15.
http://purl.obolibrary.org/obo/DOID_0110472	autosomal recessive nonsyndromic deafness 17	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S2453 and D7S525 in the chromosome region 7q31.
http://purl.obolibrary.org/obo/DOID_0110473	autosomal recessive nonsyndromic deafness 18A	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the USH1C gene on chromosome 11p15.
http://purl.obolibrary.org/obo/DOID_0110474	autosomal recessive nonsyndromic deafness 18B	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOG gene on chromosome 11p15.
http://purl.obolibrary.org/obo/DOID_0110475	autosomal recessive nonsyndromic deafness 1A	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12.
http://purl.obolibrary.org/obo/DOID_0110476	autosomal recessive nonsyndromic deafness 1B	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB6 gene on chromosome 13q12.
http://purl.obolibrary.org/obo/DOID_0110477	autosomal recessive nonsyndromic deafness 2	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MYO7A gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0110478	autosomal recessive nonsyndromic deafness 20	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11q25-qter.
http://purl.obolibrary.org/obo/DOID_0110479	autosomal recessive nonsyndromic deafness 21	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23.3.
http://purl.obolibrary.org/obo/DOID_0110480	autosomal recessive nonsyndromic deafness 22	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOA gene on chromosome 16p12.
http://purl.obolibrary.org/obo/DOID_0110481	autosomal recessive nonsyndromic deafness 23	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the PCDH15 gene on chromosome 10q21.
http://purl.obolibrary.org/obo/DOID_0110482	autosomal recessive nonsyndromic deafness 24	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the RDX gene on chromosome 11q22.
http://purl.obolibrary.org/obo/DOID_0110483	autosomal recessive nonsyndromic deafness 25	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the GRXCR1 gene on chromosome 4p13.
http://purl.obolibrary.org/obo/DOID_0110484	autosomal recessive nonsyndromic deafness 26	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the GAB1 gene on chromosome 4q31.
http://purl.obolibrary.org/obo/DOID_0110485	autosomal recessive nonsyndromic deafness 27	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q31.
http://purl.obolibrary.org/obo/DOID_0110486	autosomal recessive nonsyndromic deafness 28	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TRIOBP gene on chromosome 22q13.
http://purl.obolibrary.org/obo/DOID_0110487	autosomal recessive nonsyndromic deafness 29	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CLDN14 gene on chromosome 21q22.
http://purl.obolibrary.org/obo/DOID_0110488	autosomal recessive nonsyndromic deafness 3	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the MYO15A gene on chromosome 17p11.
http://purl.obolibrary.org/obo/DOID_0110489	autosomal recessive nonsyndromic deafness 30	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutations in the MYO3A gene on chromosome 10p12.1.
http://purl.obolibrary.org/obo/DOID_0110490	autosomal recessive nonsyndromic deafness 31	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the WHRN gene on chromosome 9q32.
http://purl.obolibrary.org/obo/DOID_0110491	autosomal recessive nonsyndromic deafness 32	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and male infertility in some affected men that has_material_basis_in mutation in the CDC14A gene on chromosome 1p21.2.
http://purl.obolibrary.org/obo/DOID_0110492	autosomal recessive nonsyndromic deafness 33	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 10p11.23-q21.1.
http://purl.obolibrary.org/obo/DOID_0110493	autosomal recessive nonsyndromic deafness 35	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized severe to profound hearing loss and has_material_basis_in mutation in the ESRRB gene on chromosome 14q24.
http://purl.obolibrary.org/obo/DOID_0110494	autosomal recessive nonsyndromic deafness 36	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the ESPN gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0110495	autosomal recessive nonsyndromic deafness 37	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14.
http://purl.obolibrary.org/obo/DOID_0110496	autosomal recessive nonsyndromic deafness 38	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6q26-q27.
http://purl.obolibrary.org/obo/DOID_0110497	autosomal recessive nonsyndromic deafness 39	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, downsloping hearing loss and has_material_basis_in mutation in the HGF gene on chromosome 7q21.
http://purl.obolibrary.org/obo/DOID_0110498	autosomal recessive nonsyndromic deafness 4	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22.
http://purl.obolibrary.org/obo/DOID_0110499	autosomal recessive nonsyndromic deafness 40	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 22q11.21-q12.1.
http://purl.obolibrary.org/obo/DOID_0110500	autosomal recessive nonsyndromic deafness 42	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ILDR1 gene on chromosome 3q13.
http://purl.obolibrary.org/obo/DOID_0110501	autosomal recessive nonsyndromic deafness 44	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ADCY1 gene on chromosome 7p12.
http://purl.obolibrary.org/obo/DOID_0110502	autosomal recessive nonsyndromic deafness 45	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1q43-q44.
http://purl.obolibrary.org/obo/DOID_0110503	autosomal recessive nonsyndromic deafness 46	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 18p11.32-p11.31.
http://purl.obolibrary.org/obo/DOID_0110504	autosomal recessive nonsyndromic deafness 47	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p25.1-p24.3.
http://purl.obolibrary.org/obo/DOID_0110505	autosomal recessive nonsyndromic deafness 48	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CIB2 gene on chromosome 15q25.
http://purl.obolibrary.org/obo/DOID_0110506	autosomal recessive nonsyndromic deafness 49	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has_material_basis_in mutation in the MARVELD2 gene on chromosome 5q13.
http://purl.obolibrary.org/obo/DOID_0110507	autosomal recessive nonsyndromic deafness 5	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q12.
http://purl.obolibrary.org/obo/DOID_0110508	autosomal recessive nonsyndromic deafness 51	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p13-p12.
http://purl.obolibrary.org/obo/DOID_0110509	autosomal recessive nonsyndromic deafness 53	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0110510	autosomal recessive nonsyndromic deafness 55	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.2.
http://purl.obolibrary.org/obo/DOID_0110511	autosomal recessive nonsyndromic deafness 59	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the DFNB59 gene on chromosome 2q31.
http://purl.obolibrary.org/obo/DOID_0110512	autosomal recessive nonsyndromic deafness 6	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMIE gene on chromosome 3p21.
http://purl.obolibrary.org/obo/DOID_0110513	autosomal recessive nonsyndromic deafness 61	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by early childhood-onset moderate to severe sensorineural hearing loss and has_material_basis_in mutation in the SLC26A5 gene on chromosome 7q22.
http://purl.obolibrary.org/obo/DOID_0110514	autosomal recessive nonsyndromic deafness 62	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 12p13.2-p11.23.
http://purl.obolibrary.org/obo/DOID_0110515	autosomal recessive nonsyndromic deafness 63	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LRTOMT gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0110516	autosomal recessive nonsyndromic deafness 65	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 20q13.2-q13.3.
http://purl.obolibrary.org/obo/DOID_0110517	autosomal recessive nonsyndromic deafness 66	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the DCDC2 gene on chromosome 6p22.
http://purl.obolibrary.org/obo/DOID_0110518	autosomal recessive nonsyndromic deafness 67	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LHFPL5 gene on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0110519	autosomal recessive nonsyndromic deafness 68	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the S1PR2 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0110520	autosomal recessive nonsyndromic deafness 7	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21.
http://purl.obolibrary.org/obo/DOID_0110521	autosomal recessive nonsyndromic deafness 70	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the PNPT1 gene on chromosome 2p16.
http://purl.obolibrary.org/obo/DOID_0110522	autosomal recessive nonsyndromic deafness 71	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 8p22-p21.3.
http://purl.obolibrary.org/obo/DOID_0110523	autosomal recessive nonsyndromic deafness 74	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MSRB3 gene on chromosome 12q14.
http://purl.obolibrary.org/obo/DOID_0110524	autosomal recessive nonsyndromic deafness 76	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with high frequency, progressive hearing loss and has_material_basis_in mutation in the SYNE4 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0110525	autosomal recessive nonsyndromic deafness 77	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by postlingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the LOXHD1 gene on chromosome 18q21.
http://purl.obolibrary.org/obo/DOID_0110526	autosomal recessive nonsyndromic deafness 79	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TPRN gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0110527	autosomal recessive nonsyndromic deafness 8	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TMPRSS3 gene on chromosome 21q22.
http://purl.obolibrary.org/obo/DOID_0110528	autosomal recessive nonsyndromic deafness 83	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p23-p21.2.
http://purl.obolibrary.org/obo/DOID_0110529	autosomal recessive nonsyndromic deafness 84A	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21.
http://purl.obolibrary.org/obo/DOID_0110530	autosomal recessive nonsyndromic deafness 84B	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOGL gene on chromosome 12q21.
http://purl.obolibrary.org/obo/DOID_0110531	autosomal recessive nonsyndromic deafness 85	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 17p12-q11.2.
http://purl.obolibrary.org/obo/DOID_0110532	autosomal recessive nonsyndromic deafness 86	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13.
http://purl.obolibrary.org/obo/DOID_0110533	autosomal recessive nonsyndromic deafness 88	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ELMOD3 gene on chromosome 2p11.
http://purl.obolibrary.org/obo/DOID_0110534	autosomal recessive nonsyndromic deafness 89	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the KARS gene on chromosome 16q23.
http://purl.obolibrary.org/obo/DOID_0110535	autosomal recessive nonsyndromic deafness 9	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOF gene on chromosome 2p23.
http://purl.obolibrary.org/obo/DOID_0110536	autosomal recessive nonsyndromic deafness 91	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SERPINB6 gene on chromosome 6p25.
http://purl.obolibrary.org/obo/DOID_0110537	autosomal recessive nonsyndromic deafness 93	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CABP2 gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0110538	autosomal recessive nonsyndromic deafness 96	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1p36.31-p36.13.
http://purl.obolibrary.org/obo/DOID_0110539	autosomal recessive nonsyndromic deafness 97	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MET gene on chromosome 7q31.
http://purl.obolibrary.org/obo/DOID_0110540	autosomal recessive nonsyndromic deafness 98	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TSPEAR gene on chromosome 21q22.
http://purl.obolibrary.org/obo/DOID_0110541	autosomal dominant nonsyndromic deafness 1	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31.
http://purl.obolibrary.org/obo/DOID_0110542	autosomal dominant nonsyndromic deafness 10	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the third or forth decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.
http://purl.obolibrary.org/obo/DOID_0110543	autosomal dominant nonsyndromic deafness 11	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the MYO7A gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0110544	autosomal dominant nonsyndromic deafness 12	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23.
http://purl.obolibrary.org/obo/DOID_0110545	autosomal dominant nonsyndromic deafness 13	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade of life with mid-frequency hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0110546	autosomal dominant nonsyndromic deafness 15	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the POU4F3 gene on chromosome 5q32.
http://purl.obolibrary.org/obo/DOID_0110547	autosomal dominant nonsyndromic deafness 16	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q24.3.
http://purl.obolibrary.org/obo/DOID_0110548	autosomal dominant nonsyndromic deafness 17	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYH9 gene on chromosome 22q12.
http://purl.obolibrary.org/obo/DOID_0110549	autosomal dominant nonsyndromic deafness 18	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 3q22.
http://purl.obolibrary.org/obo/DOID_0110550	autosomal dominant nonsyndromic deafness 20	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25.
http://purl.obolibrary.org/obo/DOID_0110551	autosomal dominant nonsyndromic deafness 21	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p24.1-p22.3.
http://purl.obolibrary.org/obo/DOID_0110552	autosomal dominant nonsyndromic deafness 22	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14.
http://purl.obolibrary.org/obo/DOID_0110553	autosomal dominant nonsyndromic deafness 23	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the SIX1 gene on chromosome 14q23.
http://purl.obolibrary.org/obo/DOID_0110554	autosomal dominant nonsyndromic deafness 24	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q35-qter.
http://purl.obolibrary.org/obo/DOID_0110555	autosomal dominant nonsyndromic deafness 25	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss and has_material_basis_in mutation in the SLC17A8 gene on chromosome 12q23.
http://purl.obolibrary.org/obo/DOID_0110556	autosomal dominant nonsyndromic deafness 27	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.1.
http://purl.obolibrary.org/obo/DOID_0110557	autosomal dominant nonsyndromic deafness 28	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the GRHL2 gene on chromosome 8q22.
http://purl.obolibrary.org/obo/DOID_0110558	autosomal dominant nonsyndromic deafness 2A	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that is characterized by high frequency progressive hearing loss and has_material_basis_in mutation in the KCNQ4 gene on chromosome 1p34.2.
http://purl.obolibrary.org/obo/DOID_0110559	autosomal dominant nonsyndromic deafness 2B	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the fourth decade of life with by high frequency progressive hearing loss and has_material_basis_in mutation in the GJB3 gene on chromosome 1p34.3.
http://purl.obolibrary.org/obo/DOID_0110560	autosomal dominant nonsyndromic deafness 30	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 15q25-q26.
http://purl.obolibrary.org/obo/DOID_0110561	autosomal dominant nonsyndromic deafness 31	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p21.3.
http://purl.obolibrary.org/obo/DOID_0110562	autosomal dominant nonsyndromic deafness 33	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 13q34.
http://purl.obolibrary.org/obo/DOID_0110563	autosomal dominant nonsyndromic deafness 36	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21.
http://purl.obolibrary.org/obo/DOID_0110564	autosomal dominant nonsyndromic deafness 3A	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that is characterized by prelingual, high frequency hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12.
http://purl.obolibrary.org/obo/DOID_0110565	autosomal dominant nonsyndromic deafness 3B	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the GJB6 gene on chromosome 13q12.
http://purl.obolibrary.org/obo/DOID_0110566	autosomal dominant nonsyndromic deafness 40	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CRYM gene on chromosome 16p12.
http://purl.obolibrary.org/obo/DOID_0110567	autosomal dominant nonsyndromic deafness 41	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat progressive hearing loss and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the purinergic receptor P2X 2 gene (P2RX2) on chromosome 12q24.
http://purl.obolibrary.org/obo/DOID_0110568	autosomal dominant nonsyndromic deafness 43	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p12.
http://purl.obolibrary.org/obo/DOID_0110569	autosomal dominant nonsyndromic deafness 44	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that is characterized postlingual onset with low to mild frequency progressive hearing loss and has_material_basis_in mutation in the CCDC50 gene on chromosome 3q28.
http://purl.obolibrary.org/obo/DOID_0110570	autosomal dominant nonsyndromic deafness 47	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p22-p21.
http://purl.obolibrary.org/obo/DOID_0110571	autosomal dominant nonsyndromic deafness 48	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with progressive hearing loss and has_material_basis_in variation in the chromosome region 12q13-q14.
http://purl.obolibrary.org/obo/DOID_0110572	autosomal dominant nonsyndromic deafness 49	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has_material_basis_in variation in the chromosome region 1q21-q23.
http://purl.obolibrary.org/obo/DOID_0110573	autosomal dominant nonsyndromic deafness 4A	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently sloping hearing audioprofiles and has_material_basis_in mutation in the MYH14 gene on chromosome 19q13.33.
http://purl.obolibrary.org/obo/DOID_0110574	autosomal dominant nonsyndromic deafness 4B	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CEACAM16 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0110575	autosomal dominant nonsyndromic deafness 5	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has_material_basis_in heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15.
http://purl.obolibrary.org/obo/DOID_0110576	autosomal dominant nonsyndromic deafness 50	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has_material_basis_in mutation in the MIRN96 gene on chromosome 7q32.
http://purl.obolibrary.org/obo/DOID_0110577	autosomal dominant nonsyndromic deafness 51	http://purl.obolibrary.org/obo/DOID_0060429	chromosomal duplication syndrome		An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes.
http://purl.obolibrary.org/obo/DOID_0110579	autosomal dominant nonsyndromic deafness 53	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q11.2-q12.
http://purl.obolibrary.org/obo/DOID_0110580	autosomal dominant nonsyndromic deafness 54	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31.
http://purl.obolibrary.org/obo/DOID_0110581	autosomal dominant nonsyndromic deafness 56	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TNC gene on chromosome 9q33.
http://purl.obolibrary.org/obo/DOID_0110582	autosomal dominant nonsyndromic deafness 58	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p21-p12.
http://purl.obolibrary.org/obo/DOID_0110583	autosomal dominant nonsyndromic deafness 59	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p14.2-q12.3.
http://purl.obolibrary.org/obo/DOID_0110584	autosomal dominant nonsyndromic deafness 6	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and has_material_basis_in mutation in the WFS1 gene on chromosome 4p16.
http://purl.obolibrary.org/obo/DOID_0110585	autosomal dominant nonsyndromic deafness 64	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the DIABLO gene on chromosome 12q24.
http://purl.obolibrary.org/obo/DOID_0110586	autosomal dominant nonsyndromic deafness 65	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13.
http://purl.obolibrary.org/obo/DOID_0110587	autosomal dominant nonsyndromic deafness 66	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CD164 gene on chromosome 6q21.
http://purl.obolibrary.org/obo/DOID_0110588	autosomal dominant nonsyndromic deafness 67	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the OSBPL2 gene on chromosome 20q13.
http://purl.obolibrary.org/obo/DOID_0110589	autosomal dominant nonsyndromic deafness 68	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the HOMER2 gene on chromosome 15q25.
http://purl.obolibrary.org/obo/DOID_0110590	autosomal dominant nonsyndromic deafness 69	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the KITLG gene on chromosome 12q21.
http://purl.obolibrary.org/obo/DOID_0110591	autosomal dominant nonsyndromic deafness 7	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has_material_basis_in variation in the chromosome region 1q21-q23.
http://purl.obolibrary.org/obo/DOID_0110592	autosomal dominant nonsyndromic deafness 70	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the MCM2 gene on chromosome 3q21.
http://purl.obolibrary.org/obo/DOID_0110593	autosomal dominant nonsyndromic deafness 9	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and has_material_basis_in mutation in the COCH gene on chromosome 14q12.
http://purl.obolibrary.org/obo/DOID_0110594	primary ciliary dyskinesia 1	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13.
http://purl.obolibrary.org/obo/DOID_0110595	Stromme syndrome	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41.
http://purl.obolibrary.org/obo/DOID_0110596	primary ciliary dyskinesia 21	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23.
http://purl.obolibrary.org/obo/DOID_0110597	primary ciliary dyskinesia 22	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, and has_material_basis_in homozygous or compound heterozygous mutation in the ZMYND10 gene on chromosome 3p21.
http://purl.obolibrary.org/obo/DOID_0110598	primary ciliary dyskinesia 14	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26.
http://purl.obolibrary.org/obo/DOID_0110599	primary ciliary dyskinesia 3	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15.
http://purl.obolibrary.org/obo/DOID_0110600	primary ciliary dyskinesia 29	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15.
http://purl.obolibrary.org/obo/DOID_0110601	primary ciliary dyskinesia 12	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and has_material_basis_in homozygous mutation in the RSPH9 gene on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0110602	primary ciliary dyskinesia 11	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low weight, and short stature, and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH4A gene on chromosome 6q22.
http://purl.obolibrary.org/obo/DOID_0110603	primary ciliary dyskinesia 32	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25.
http://purl.obolibrary.org/obo/DOID_0110604	primary ciliary dyskinesia 18	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22.
http://purl.obolibrary.org/obo/DOID_0110605	primary ciliary dyskinesia 7	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with chronic respiratory infections, chronic sinusitis, recurrent bronchitis, and pneumonia beginning in infancy or early childhood and has_material_basis_in mutation in the DNAH11 gene on chromosome 7p21.
http://purl.obolibrary.org/obo/DOID_0110606	primary ciliary dyskinesia 6	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by partial outer dynein arm defect and has_material_basis_in mutation in the TXNDC3 gene on the chromosome 7p14.1.
http://purl.obolibrary.org/obo/DOID_0110607	primary ciliary dyskinesia 28	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22.
http://purl.obolibrary.org/obo/DOID_0110608	primary ciliary dyskinesia 19	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and has_material_basis_in homozygous mutation in the LRRC6 gene on chromosome 8q24.
http://purl.obolibrary.org/obo/DOID_0110609	primary ciliary dyskinesia 23	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p.
http://purl.obolibrary.org/obo/DOID_0110610	primary ciliary dyskinesia 34	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has_material_basis_in homozygous mutation in the DNAJB13 gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0110611	primary ciliary dyskinesia 27	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0110612	primary ciliary dyskinesia 10	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the KTU gene on chromosome 14q21.
http://purl.obolibrary.org/obo/DOID_0110613	primary ciliary dyskinesia 16	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the DNAL1 gene on chromosome 14q24.3.
http://purl.obolibrary.org/obo/DOID_0110614	primary ciliary dyskinesia 4	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has_material_basis_in variation in the chromosome region 15q13.1-q15.1.
http://purl.obolibrary.org/obo/DOID_0110615	primary ciliary dyskinesia 25	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the DYX1C1 gene on chromosome 15q21.
http://purl.obolibrary.org/obo/DOID_0110616	primary ciliary dyskinesia 8	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that has_material_basis_in variation in the chromosome region 15q24-q25.
http://purl.obolibrary.org/obo/DOID_0110617	primary ciliary dyskinesia 5	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the HYDIN gene on chromosome 16q22.
http://purl.obolibrary.org/obo/DOID_0110618	primary ciliary dyskinesia 13	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24.
http://purl.obolibrary.org/obo/DOID_0110619	primary ciliary dyskinesia 33	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the GAS8 gene on chromosome 16q24.
http://purl.obolibrary.org/obo/DOID_0110620	primary ciliary dyskinesia 35	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absent outer dynein arms, immotile cilia, variable occurence of laterality defects and recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the TTC25 gene on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0110621	primary ciliary dyskinesia 17	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0110622	primary ciliary dyskinesia 9	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25.
http://purl.obolibrary.org/obo/DOID_0110623	primary ciliary dyskinesia 15	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25.
http://purl.obolibrary.org/obo/DOID_0110624	primary ciliary dyskinesia 30	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0110625	primary ciliary dyskinesia 20	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0110626	primary ciliary dyskinesia 2	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0110627	primary ciliary dyskinesia 26	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22.
http://purl.obolibrary.org/obo/DOID_0110628	primary ciliary dyskinesia 24	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22.
http://purl.obolibrary.org/obo/DOID_0110629	Wolfram syndrome 1	http://purl.obolibrary.org/obo/DOID_10632	Wolfram syndrome		An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1.
http://purl.obolibrary.org/obo/DOID_0110630	Wolfram syndrome 2	http://purl.obolibrary.org/obo/DOID_10632	Wolfram syndrome		An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24.
http://purl.obolibrary.org/obo/DOID_0110632	megaconial type congenital muscular dystrophy	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13.
http://purl.obolibrary.org/obo/DOID_0110633	rigid spine muscular dystrophy 1	http://purl.obolibrary.org/obo/DOID_0060564	spinal disease		A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0110634	congenital muscular dystrophy 1B	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42.
http://purl.obolibrary.org/obo/DOID_0110635	muscular dystrophy-dystroglycanopathy type B5	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.
http://purl.obolibrary.org/obo/DOID_0110636	congenital merosin-deficient muscular dystrophy 1A	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22.
http://purl.obolibrary.org/obo/DOID_0110637	muscular dystrophy-dystroglycanopathy type B6	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.
http://purl.obolibrary.org/obo/DOID_0110639	congenital muscular dystrophy due to integrin alpha-7 deficiency	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0110640	congenital muscular dystrophy due to LMNA mutation	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.
http://purl.obolibrary.org/obo/DOID_0110644	long QT syndrome 1	http://purl.obolibrary.org/obo/DOID_2843	long QT syndrome		A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4.
http://purl.obolibrary.org/obo/DOID_0110645	long QT syndrome 2	http://purl.obolibrary.org/obo/DOID_2843	long QT syndrome		A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1.
http://purl.obolibrary.org/obo/DOID_0110646	long QT syndrome 3	http://purl.obolibrary.org/obo/DOID_2843	long QT syndrome		A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN5A gene on chromosome 3p22.2.
http://purl.obolibrary.org/obo/DOID_0110647	long QT syndrome 5	http://purl.obolibrary.org/obo/DOID_2843	long QT syndrome		A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE1 gene on chromosome 21q22.12.
http://purl.obolibrary.org/obo/DOID_0110648	long QT syndrome 6	http://purl.obolibrary.org/obo/DOID_2843	long QT syndrome		A long QT interval syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE2 gene on chromosome 21q22.11.
http://purl.obolibrary.org/obo/DOID_0110649	long QT syndrome 8	http://purl.obolibrary.org/obo/DOID_2843	long QT syndrome		A long QT syndrome characterized by a prolonged QT interval and polymorphic ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33.
http://purl.obolibrary.org/obo/DOID_0110650	long QT syndrome 9	http://purl.obolibrary.org/obo/DOID_2843	long QT syndrome		A long QT syndrome that has_material_basis_in mutation of the CAV3 gene on chromosome 3p25.3.
http://purl.obolibrary.org/obo/DOID_0110651	long QT syndrome 10	http://purl.obolibrary.org/obo/DOID_2843	long QT syndrome		A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN4B gene on chromosome 11q23.3.
http://purl.obolibrary.org/obo/DOID_0110652	long QT syndrome 11	http://purl.obolibrary.org/obo/DOID_2843	long QT syndrome		A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the AKAP9 gene on chromosome 7q21.2.
http://purl.obolibrary.org/obo/DOID_0110653	long QT syndrome 12	http://purl.obolibrary.org/obo/DOID_2843	long QT syndrome		A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SNTA1 gene on chromosome 20q11.21.
http://purl.obolibrary.org/obo/DOID_0110654	long QT syndrome 13	http://purl.obolibrary.org/obo/DOID_2843	long QT syndrome		A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNJ5 gene on chromosome 11q24.3.
http://purl.obolibrary.org/obo/DOID_0110655	long QT syndrome 14	http://purl.obolibrary.org/obo/DOID_2843	long QT syndrome		A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM1 gene on chromosome 14q32.11.
http://purl.obolibrary.org/obo/DOID_0110656	long QT syndrome 15	http://purl.obolibrary.org/obo/DOID_2843	long QT syndrome		A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM2 gene on chromosome 2p21.
http://purl.obolibrary.org/obo/DOID_0110716	Warburg micro syndrome 1	http://purl.obolibrary.org/obo/DOID_0060237	Warburg micro syndrome		A Warburg micro syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severely impaired intellectual development, spastic diplegia, and hypogonadism that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP1 gene on chromosome 2q21.
http://purl.obolibrary.org/obo/DOID_0110717	Warburg micro syndrome 2	http://purl.obolibrary.org/obo/DOID_0060237	Warburg micro syndrome		A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41.
http://purl.obolibrary.org/obo/DOID_0110718	Warburg micro syndrome 3	http://purl.obolibrary.org/obo/DOID_0060237	Warburg micro syndrome		A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB18 gene on chromosome 10p12.
http://purl.obolibrary.org/obo/DOID_0110719	Warburg micro syndrome 4	http://purl.obolibrary.org/obo/DOID_0060237	Warburg micro syndrome		A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TBC1D20 gene on chromosome 20p13.
http://purl.obolibrary.org/obo/DOID_0110720	neuronal ceroid lipofuscinosis 4	http://purl.obolibrary.org/obo/DOID_14503	neuronal ceroid lipofuscinosis		A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inheritance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene on chromosome 20q13.
http://purl.obolibrary.org/obo/DOID_0110721	neuronal ceroid lipofuscinosis 1	http://purl.obolibrary.org/obo/DOID_14503	neuronal ceroid lipofuscinosis		A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34.
http://purl.obolibrary.org/obo/DOID_0110722	neuronal ceroid lipofuscinosis 7	http://purl.obolibrary.org/obo/DOID_14503	neuronal ceroid lipofuscinosis		A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28.
http://purl.obolibrary.org/obo/DOID_0110723	neuronal ceroid lipofuscinosis 8	http://purl.obolibrary.org/obo/DOID_14503	neuronal ceroid lipofuscinosis		A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23.
http://purl.obolibrary.org/obo/DOID_0110724	neuronal ceroid lipofuscinosis 8 northern epilepsy variant	http://purl.obolibrary.org/obo/DOID_14503	neuronal ceroid lipofuscinosis		A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23.
http://purl.obolibrary.org/obo/DOID_0110725	neuronal ceroid lipofuscinosis 10	http://purl.obolibrary.org/obo/DOID_14503	neuronal ceroid lipofuscinosis		A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15.
http://purl.obolibrary.org/obo/DOID_0110726	neuronal ceroid lipofuscinosis 2	http://purl.obolibrary.org/obo/DOID_14503	neuronal ceroid lipofuscinosis		A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15.
http://purl.obolibrary.org/obo/DOID_0110727	neuronal ceroid lipofuscinosis 13	http://purl.obolibrary.org/obo/DOID_14503	neuronal ceroid lipofuscinosis		A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0110728	neuronal ceroid lipofuscinosis 5	http://purl.obolibrary.org/obo/DOID_14503	neuronal ceroid lipofuscinosis		A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22.
http://purl.obolibrary.org/obo/DOID_0110729	neuronal ceroid lipofuscinosis 6A	http://purl.obolibrary.org/obo/DOID_14503	neuronal ceroid lipofuscinosis		A neuronal ceroid lipofuscinosis that is characterized by progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23.
http://purl.obolibrary.org/obo/DOID_0110730	neuronal ceroid lipofuscinosis 6B	http://purl.obolibrary.org/obo/DOID_14503	neuronal ceroid lipofuscinosis		A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23.
http://purl.obolibrary.org/obo/DOID_0110731	neuronal ceroid lipofuscinosis 3	http://purl.obolibrary.org/obo/DOID_14503	neuronal ceroid lipofuscinosis		A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11.
http://purl.obolibrary.org/obo/DOID_0110732	neuronal ceroid lipofuscinosis 11	http://purl.obolibrary.org/obo/DOID_14503	neuronal ceroid lipofuscinosis		A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q.
http://purl.obolibrary.org/obo/DOID_0110733	neuronal ceroid lipofuscinosis 9	http://purl.obolibrary.org/obo/DOID_14503	neuronal ceroid lipofuscinosis		A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive vision loss, progressive ataxia and seizures.
http://purl.obolibrary.org/obo/DOID_0110734	neurodegeneration with brain iron accumulation	http://purl.obolibrary.org/obo/DOID_1289	neurodegenerative disease		A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia.
http://purl.obolibrary.org/obo/DOID_0110735	neurodegeneration with brain iron accumulation 2a	http://purl.obolibrary.org/obo/DOID_0110734	neurodegeneration with brain iron accumulation		A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life.
http://purl.obolibrary.org/obo/DOID_0110736	neurodegeneration with brain iron accumulation 2b	http://purl.obolibrary.org/obo/DOID_0110734	neurodegeneration with brain iron accumulation		A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1.
http://purl.obolibrary.org/obo/DOID_0110737	neurodegeneration with brain iron accumulation 3	http://purl.obolibrary.org/obo/DOID_0110734	neurodegeneration with brain iron accumulation		A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33.
http://purl.obolibrary.org/obo/DOID_0110738	neurodegeneration with brain iron accumulation 4	http://purl.obolibrary.org/obo/DOID_0110734	neurodegeneration with brain iron accumulation		A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12.
http://purl.obolibrary.org/obo/DOID_0110739	neurodegeneration with brain iron accumulation 5	http://purl.obolibrary.org/obo/DOID_0110734	neurodegeneration with brain iron accumulation		A neurodegeneration with brain iron accumulation that has_material_basis_in X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23.
http://purl.obolibrary.org/obo/DOID_0110740	neurodegeneration with brain iron accumulation 6	http://purl.obolibrary.org/obo/DOID_0110734	neurodegeneration with brain iron accumulation		A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2.
http://purl.obolibrary.org/obo/DOID_0110741	type 1 diabetes mellitus 2	http://purl.obolibrary.org/obo/DOID_9744	type 1 diabetes mellitus		A type 1 diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutation of the INS gene on chromosome 11p15.5.
http://purl.obolibrary.org/obo/DOID_0110742	type 1 diabetes mellitus 3	http://purl.obolibrary.org/obo/DOID_9744	type 1 diabetes mellitus		A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 15q26.
http://purl.obolibrary.org/obo/DOID_0110743	type 1 diabetes mellitus 4	http://purl.obolibrary.org/obo/DOID_9744	type 1 diabetes mellitus		A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0110744	type 1 diabetes mellitus 5	http://purl.obolibrary.org/obo/DOID_9744	type 1 diabetes mellitus		A type 1 diabetes mellitus that has_material_basis_in mutation of the SUMO4 gene on chromosome 6q25.1.
http://purl.obolibrary.org/obo/DOID_0110745	type 1 diabetes mellitus 6	http://purl.obolibrary.org/obo/DOID_9744	type 1 diabetes mellitus		A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 18q21.
http://purl.obolibrary.org/obo/DOID_0110746	type 1 diabetes mellitus 7	http://purl.obolibrary.org/obo/DOID_9744	type 1 diabetes mellitus		A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q31.
http://purl.obolibrary.org/obo/DOID_0110747	type 1 diabetes mellitus 8	http://purl.obolibrary.org/obo/DOID_9744	type 1 diabetes mellitus		A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 6q25-q27.
http://purl.obolibrary.org/obo/DOID_0110749	type 1 diabetes mellitus 10	http://purl.obolibrary.org/obo/DOID_9744	type 1 diabetes mellitus		A type 1 diabetes mellitus that has_material_basis_in mutation of the IL2RA gene on chromosome 10p15.1.
http://purl.obolibrary.org/obo/DOID_0110750	type 1 diabetes mellitus 11	http://purl.obolibrary.org/obo/DOID_9744	type 1 diabetes mellitus		A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 14q24.3-q31.
http://purl.obolibrary.org/obo/DOID_0110751	type 1 diabetes mellitus 12	http://purl.obolibrary.org/obo/DOID_9744	type 1 diabetes mellitus		A type 1 diabetes mellitus that has_material_basis_in mutation of the CTLA4 gene on chromosome 2q33.2.
http://purl.obolibrary.org/obo/DOID_0110752	type 1 diabetes mellitus 13	http://purl.obolibrary.org/obo/DOID_9744	type 1 diabetes mellitus		A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 2q34.
http://purl.obolibrary.org/obo/DOID_0110753	type 1 diabetes mellitus 15	http://purl.obolibrary.org/obo/DOID_9744	type 1 diabetes mellitus		A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q21.
http://purl.obolibrary.org/obo/DOID_0110754	type 1 diabetes mellitus 17	http://purl.obolibrary.org/obo/DOID_9744	type 1 diabetes mellitus		A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q25.
http://purl.obolibrary.org/obo/DOID_0110755	type 1 diabetes mellitus 18	http://purl.obolibrary.org/obo/DOID_9744	type 1 diabetes mellitus		A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 5q31.1-q33.1.
http://purl.obolibrary.org/obo/DOID_0110756	type 1 diabetes mellitus 19	http://purl.obolibrary.org/obo/DOID_9744	type 1 diabetes mellitus		A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q24.3.
http://purl.obolibrary.org/obo/DOID_0110757	type 1 diabetes mellitus 20	http://purl.obolibrary.org/obo/DOID_9744	type 1 diabetes mellitus		A type 1 diabetes mellitus that has_material_basis_in mutation of the HNF1A gene on chromosome 12q24.31.
http://purl.obolibrary.org/obo/DOID_0110758	type 1 diabetes mellitus 21	http://purl.obolibrary.org/obo/DOID_9744	type 1 diabetes mellitus		A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q25.
http://purl.obolibrary.org/obo/DOID_0110759	type 1 diabetes mellitus 22	http://purl.obolibrary.org/obo/DOID_9744	type 1 diabetes mellitus		A type 1 diabetes mellitus that has_material_basis_in mutation of the CCR5 gene on chromosome 3p21.31.
http://purl.obolibrary.org/obo/DOID_0110760	type 1 diabetes mellitus 23	http://purl.obolibrary.org/obo/DOID_9744	type 1 diabetes mellitus		A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 4q27.
http://purl.obolibrary.org/obo/DOID_0110761	type 1 diabetes mellitus 24	http://purl.obolibrary.org/obo/DOID_9744	type 1 diabetes mellitus		A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q23.31.
http://purl.obolibrary.org/obo/DOID_0110763	hereditary spastic paraplegia 10	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF5A gene on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0110764	hereditary spastic paraplegia 11	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21.
http://purl.obolibrary.org/obo/DOID_0110765	hereditary spastic paraplegia 12	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the RTN2 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0110766	hereditary spastic paraplegia 13	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has_material_basis_in mutation in the HSPD1 gene on chromosome 2q33.
http://purl.obolibrary.org/obo/DOID_0110767	hereditary spastic paraplegia 14	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 3q27-q28.
http://purl.obolibrary.org/obo/DOID_0110768	hereditary spastic paraplegia 15	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE26 gene on chromosome 14q24.1.
http://purl.obolibrary.org/obo/DOID_0110769	hereditary spastic paraplegia 16	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq11.2.
http://purl.obolibrary.org/obo/DOID_0110770	hereditary spastic paraplegia 17	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.
http://purl.obolibrary.org/obo/DOID_0110771	hereditary spastic paraplegia 18	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11.
http://purl.obolibrary.org/obo/DOID_0110772	hereditary spastic paraplegia 19	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 9q.
http://purl.obolibrary.org/obo/DOID_0110773	hereditary spastic paraplegia 2	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.2.
http://purl.obolibrary.org/obo/DOID_0110774	hereditary spastic paraplegia 23	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32.
http://purl.obolibrary.org/obo/DOID_0110775	hereditary spastic paraplegia 24	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 13q14.
http://purl.obolibrary.org/obo/DOID_0110776	hereditary spastic paraplegia 25	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 6q23-q24.1.
http://purl.obolibrary.org/obo/DOID_0110777	hereditary spastic paraplegia 26	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0110778	hereditary spastic paraplegia 27	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 10q22.1-q24.1.
http://purl.obolibrary.org/obo/DOID_0110779	hereditary spastic paraplegia 28	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD1 gene on chromosome 14q22.
http://purl.obolibrary.org/obo/DOID_0110780	hereditary spastic paraplegia 29	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1p31.1-p21.1.
http://purl.obolibrary.org/obo/DOID_0110781	hereditary spastic paraplegia 30	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37.
http://purl.obolibrary.org/obo/DOID_0110782	hereditary spastic paraplegia 31	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP1 gene on chromosome 2p11.
http://purl.obolibrary.org/obo/DOID_0110783	hereditary spastic paraplegia 32	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 14q12-q21.
http://purl.obolibrary.org/obo/DOID_0110784	hereditary spastic paraplegia 33	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE27 gene on chromosome 10q24.
http://purl.obolibrary.org/obo/DOID_0110785	hereditary spastic paraplegia 34	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq24-q25.
http://purl.obolibrary.org/obo/DOID_0110786	hereditary spastic paraplegia 35	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the FA2H gene on chromosome 16q23.1.
http://purl.obolibrary.org/obo/DOID_0110787	hereditary spastic paraplegia 36	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 12q23-q24.
http://purl.obolibrary.org/obo/DOID_0110788	hereditary spastic paraplegia 37	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 8p21.1-q13.3.
http://purl.obolibrary.org/obo/DOID_0110789	hereditary spastic paraplegia 38	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 4p16-p15.
http://purl.obolibrary.org/obo/DOID_0110790	hereditary spastic paraplegia 39	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0110791	hereditary spastic paraplegia 3A	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that is characterized by lower limb weakness and spasticity that is generally non-progressive or extremely slow and has_material_basis_in mutation in the ATL1 gene on chromosome 14q22.
http://purl.obolibrary.org/obo/DOID_0110792	hereditary spastic paraplegia 4	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22.
http://purl.obolibrary.org/obo/DOID_0110793	hereditary spastic paraplegia 41	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 11p14.1-p11.2.
http://purl.obolibrary.org/obo/DOID_0110794	hereditary spastic paraplegia 42	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the SLC33A1 gene on chromosome 3q25.31.
http://purl.obolibrary.org/obo/DOID_0110795	hereditary spastic paraplegia 43	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the C19ORF12 gene on chromosome 19q12.
http://purl.obolibrary.org/obo/DOID_0110796	hereditary spastic paraplegia 44	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42.
http://purl.obolibrary.org/obo/DOID_0110797	hereditary spastic paraplegia 45	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the NT5C2 gene on chromosome 10q24.
http://purl.obolibrary.org/obo/DOID_0110798	hereditary spastic paraplegia 46	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the GBA2 gene on chromosome 9p.
http://purl.obolibrary.org/obo/DOID_0110799	hereditary spastic paraplegia 47	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13.
http://purl.obolibrary.org/obo/DOID_0110800	hereditary spastic paraplegia 48	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1.
http://purl.obolibrary.org/obo/DOID_0110801	hereditary sensory and autonomic neuropathy type 9	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A hereditary sensory and autonomic neuropathy characterized by global developmental delay, intellectual disability, hypotonia, dysarthria, abnormal gait, hyporeflexia, and central hypoventilation or apnea that has_material_basis_in homozygous or compound heterozygous mutation in the TECPR2 gene on chromosome 14q32. Additional symptoms due to peripheral neuropathy or autonomic dysfunction are more variable.
http://purl.obolibrary.org/obo/DOID_0110802	hereditary spastic paraplegia 50	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1.
http://purl.obolibrary.org/obo/DOID_0110803	hereditary spastic paraplegia 51	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21.
http://purl.obolibrary.org/obo/DOID_0110804	hereditary spastic paraplegia 52	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12.
http://purl.obolibrary.org/obo/DOID_0110805	hereditary spastic paraplegia 53	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the VPS37A gene on chromosome 8p22.
http://purl.obolibrary.org/obo/DOID_0110806	hereditary spastic paraplegia 54	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11.
http://purl.obolibrary.org/obo/DOID_0110807	hereditary spastic paraplegia 55	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the C12ORF65 gene on chromosome 12q24.
http://purl.obolibrary.org/obo/DOID_0110808	hereditary spastic paraplegia 56	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25.
http://purl.obolibrary.org/obo/DOID_0110809	hereditary spastic paraplegia 57	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the TFG gene on chromosome 3q12.
http://purl.obolibrary.org/obo/DOID_0110810	hereditary spastic paraplegia 5A	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12.
http://purl.obolibrary.org/obo/DOID_0110811	hereditary spastic paraplegia 6	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2.
http://purl.obolibrary.org/obo/DOID_0110812	hereditary spastic paraplegia 61	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the ARL6IP1 gene on chromosome 16p12.
http://purl.obolibrary.org/obo/DOID_0110813	hereditary spastic paraplegia 62	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN1 gene on chromosome 10q24.
http://purl.obolibrary.org/obo/DOID_0110814	hereditary spastic paraplegia 63	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the AMPD2 gene on chromosome 1p13.
http://purl.obolibrary.org/obo/DOID_0110815	hereditary spastic paraplegia 64	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the ENTPD1 gene on chromosome 10q24.
http://purl.obolibrary.org/obo/DOID_0110816	hereditary spastic paraplegia 7	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has_material_basis_in mutation in the SPG7 gene on chromosome 16q24.
http://purl.obolibrary.org/obo/DOID_0110817	hereditary spastic paraplegia 72A	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in a heterozygous mutation in the REEP2 gene on chromosome 5q31.2.
http://purl.obolibrary.org/obo/DOID_0110818	hereditary spastic paraplegia 73	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the CPT1C gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0110819	hereditary spastic paraplegia 74	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the IBA57 gene on chromosome 1q42.
http://purl.obolibrary.org/obo/DOID_0110820	hereditary spastic paraplegia 75	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the MAG gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0110821	hereditary spastic paraplegia 76	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the CAPN1 gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0110822	hereditary spastic paraplegia 77	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the FARS2 gene on chromosome 6p25.
http://purl.obolibrary.org/obo/DOID_0110823	hereditary spastic paraplegia 8	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in mutation in the KIAA0196 gene on chromosome 8q24.
http://purl.obolibrary.org/obo/DOID_0110824	hereditary spastic paraplegia 9A	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.
http://purl.obolibrary.org/obo/DOID_0110825	hereditary spastic paraplegia 9B	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.
http://purl.obolibrary.org/obo/DOID_0110826	Usher syndrome type 1	http://purl.obolibrary.org/obo/DOID_0050439	Usher syndrome		An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa.
http://purl.obolibrary.org/obo/DOID_0110827	Usher syndrome type 2	http://purl.obolibrary.org/obo/DOID_0050439	Usher syndrome		An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa.
http://purl.obolibrary.org/obo/DOID_0110828	Usher syndrome type 3	http://purl.obolibrary.org/obo/DOID_0050439	Usher syndrome		An Usher syndrome characterized by progressive hearing loss typically beginning in late childhood, variable vestibular dysfunction and onset of retinitis pigmentosa by the second decade of life.
http://purl.obolibrary.org/obo/DOID_0110829	retinitis pigmentosa-deafness syndrome	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome.
http://purl.obolibrary.org/obo/DOID_0110830	Usher syndrome type 1C	http://purl.obolibrary.org/obo/DOID_0110826	Usher syndrome type 1		An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the USH1C gene on chromosome 11p15.
http://purl.obolibrary.org/obo/DOID_0110831	Usher syndrome type 1D	http://purl.obolibrary.org/obo/DOID_0110826	Usher syndrome type 1		An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22.
http://purl.obolibrary.org/obo/DOID_0110832	Usher syndrome type 1F	http://purl.obolibrary.org/obo/DOID_0110826	Usher syndrome type 1		An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the PCDH15 gene on chromosome 10q.
http://purl.obolibrary.org/obo/DOID_0110833	Usher syndrome type 1E	http://purl.obolibrary.org/obo/DOID_0110826	Usher syndrome type 1		An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 21q21.
http://purl.obolibrary.org/obo/DOID_0110834	Usher syndrome type 1G	http://purl.obolibrary.org/obo/DOID_0110826	Usher syndrome type 1		An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the USH1G gene on chromosome 17q25.
http://purl.obolibrary.org/obo/DOID_0110835	Usher syndrome type 1H	http://purl.obolibrary.org/obo/DOID_0110826	Usher syndrome type 1		An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 15q22-q23.
http://purl.obolibrary.org/obo/DOID_0110837	Usher syndrome type 1K	http://purl.obolibrary.org/obo/DOID_0110826	Usher syndrome type 1		An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 10p11.21-q21.1.
http://purl.obolibrary.org/obo/DOID_0110838	Usher syndrome type 2A	http://purl.obolibrary.org/obo/DOID_0110827	Usher syndrome type 2		An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41.
http://purl.obolibrary.org/obo/DOID_0110839	Usher syndrome type 2C	http://purl.obolibrary.org/obo/DOID_0110827	Usher syndrome type 2		An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14.
http://purl.obolibrary.org/obo/DOID_0110840	Usher syndrome type 2D	http://purl.obolibrary.org/obo/DOID_0110827	Usher syndrome type 2		An Usher syndrome type 2 that has_material_basis_in by homozygous or compound heterozygous mutation in the WHRN gene on chromosome 9q32.
http://purl.obolibrary.org/obo/DOID_0110841	Usher syndrome type 3A	http://purl.obolibrary.org/obo/DOID_0110828	Usher syndrome type 3		An Usher syndrome type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the CLRN1 gene on chromosome 3q25.
http://purl.obolibrary.org/obo/DOID_0110842	Usher syndrome type 3B	http://purl.obolibrary.org/obo/DOID_0110828	Usher syndrome type 3		An Usher syndrome type 3 that has_material_basis_in homozygous mutation in the HARS gene on chromosome 5q31.
http://purl.obolibrary.org/obo/DOID_0110843	xeroderma pigmentosum group A	http://purl.obolibrary.org/obo/DOID_0050427	xeroderma pigmentosum		A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22.
http://purl.obolibrary.org/obo/DOID_0110844	xeroderma pigmentosum group C	http://purl.obolibrary.org/obo/DOID_0050427	xeroderma pigmentosum		A xeroderma pigmentosum characterized by increased propensity to develop malignant melanoma that has_material_basis_in mutation in the XPC gene on chromosome 3p25.
http://purl.obolibrary.org/obo/DOID_0110845	xeroderma pigmentosum group D	http://purl.obolibrary.org/obo/DOID_0050427	xeroderma pigmentosum		A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0110846	xeroderma pigmentosum group E	http://purl.obolibrary.org/obo/DOID_0050427	xeroderma pigmentosum		A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11.
http://purl.obolibrary.org/obo/DOID_0110847	xeroderma pigmentosum variant type	http://purl.obolibrary.org/obo/DOID_0050427	xeroderma pigmentosum		A xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that has_material_basis_in mutations in the POLH gene on chromosome 6p21.1.
http://purl.obolibrary.org/obo/DOID_0110848	xeroderma pigmentosum group F	http://purl.obolibrary.org/obo/DOID_0050427	xeroderma pigmentosum		A xeroderma pigmentosum characterized by milder symptoms and later onset of skin cancer that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC4 gene on chromosome 16p13.
http://purl.obolibrary.org/obo/DOID_0110849	xeroderma pigmentosum group G	http://purl.obolibrary.org/obo/DOID_0050427	xeroderma pigmentosum		A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC5 gene on chromosome 13q33.
http://purl.obolibrary.org/obo/DOID_0110850	xeroderma pigmentosum group B	http://purl.obolibrary.org/obo/DOID_0050427	xeroderma pigmentosum		A xeroderma pigmentosum characterized by that has_material_basis_in mutation in the ERCC3 gene on chromosome 2q14.
http://purl.obolibrary.org/obo/DOID_0110851	rhizomelic chondrodysplasia punctata type 1	http://purl.obolibrary.org/obo/DOID_2580	rhizomelic chondrodysplasia punctata		A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3.
http://purl.obolibrary.org/obo/DOID_0110852	rhizomelic chondrodysplasia punctata type 2	http://purl.obolibrary.org/obo/DOID_2580	rhizomelic chondrodysplasia punctata		A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2.
http://purl.obolibrary.org/obo/DOID_0110853	rhizomelic chondrodysplasia punctata type 3	http://purl.obolibrary.org/obo/DOID_2580	rhizomelic chondrodysplasia punctata		A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2.
http://purl.obolibrary.org/obo/DOID_0110854	rhizomelic chondrodysplasia punctata type 5	http://purl.obolibrary.org/obo/DOID_2580	rhizomelic chondrodysplasia punctata		A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31.
http://purl.obolibrary.org/obo/DOID_0110855	posterior polymorphous corneal dystrophy 1	http://purl.obolibrary.org/obo/DOID_0060457	posterior polymorphous corneal dystrophy		A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.
http://purl.obolibrary.org/obo/DOID_0110856	posterior polymorphous corneal dystrophy 2	http://purl.obolibrary.org/obo/DOID_0060457	posterior polymorphous corneal dystrophy		A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the COL8A2 gene on chromosome 1p34.3.
http://purl.obolibrary.org/obo/DOID_0110857	posterior polymorphous corneal dystrophy 3	http://purl.obolibrary.org/obo/DOID_0060457	posterior polymorphous corneal dystrophy		A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the ZEB1 gene on chromosome 10p11.22.
http://purl.obolibrary.org/obo/DOID_0110858	polycystic kidney disease 1	http://purl.obolibrary.org/obo/DOID_898	autosomal dominant polycystic kidney disease		A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3.
http://purl.obolibrary.org/obo/DOID_0110859	polycystic kidney disease 2	http://purl.obolibrary.org/obo/DOID_898	autosomal dominant polycystic kidney disease		A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD2 gene on chromosome 4q22.1.
http://purl.obolibrary.org/obo/DOID_0110860	polycystic kidney disease 3	http://purl.obolibrary.org/obo/DOID_898	autosomal dominant polycystic kidney disease		A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the GANAB gene on chromosome 11q12.3.
http://purl.obolibrary.org/obo/DOID_0110861	autosomal recessive polycystic kidney disease	http://purl.obolibrary.org/obo/DOID_0080322	polycystic kidney disease		A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.
http://purl.obolibrary.org/obo/DOID_100	intestinal infectious disease	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		An intestinal disease that involves intestinal infection that has_material_basis_in viruses, bacteria, fungi and parasites.
http://purl.obolibrary.org/obo/DOID_10003	sensorineural hearing loss	http://purl.obolibrary.org/obo/DOID_2952	inner ear disease		An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.
http://purl.obolibrary.org/obo/DOID_10011	thyroid lymphoma	http://purl.obolibrary.org/obo/DOID_1781	thyroid cancer		A thyroid gland cancer that has_material_basis_in lymphocytes.
http://purl.obolibrary.org/obo/DOID_10016	multiple endocrine neoplasia type 2B	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A multiple endocrine neoplasia characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities.
http://purl.obolibrary.org/obo/DOID_10017	multiple endocrine neoplasia type 1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A multiple endocrine neoplasia that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas.
http://purl.obolibrary.org/obo/DOID_1002	endometritis	http://purl.obolibrary.org/obo/DOID_1005	endometrial disease		An endometrial disease that is characterized by inflammation of the endometrium.
http://purl.obolibrary.org/obo/DOID_10020	ampulla of Vater cancer	http://purl.obolibrary.org/obo/DOID_4606	bile duct cancer		A duodenum cancer that is located_in the ampulla of Vater.
http://purl.obolibrary.org/obo/DOID_10021	duodenum cancer	http://purl.obolibrary.org/obo/DOID_10154	small intestine cancer		A small intestine cancer that is located_in the beginning section of the small intestine.
http://purl.obolibrary.org/obo/DOID_10022	ampulla of Vater benign neoplasm	http://purl.obolibrary.org/obo/DOID_4138	bile duct disease		A duodenal benign neoplasm that is located_in the ampulla of Vater.
http://purl.obolibrary.org/obo/DOID_10024	migraine with aura	http://purl.obolibrary.org/obo/DOID_6364	migraine		A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon.
http://purl.obolibrary.org/obo/DOID_10027	tabes dorsalis	http://purl.obolibrary.org/obo/DOID_9988	tertiary neurosyphilis		A tertiary neurosyphilis that results in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has symptom intense, stabbing pain in the back and legs that recurs irregularly, has symptom gait ataxia, has symptom hyperesthesia, has symptom paresthesia, has symptom loss of bladder sensation leading to urine retention, has symptom erectile dysfunction.
http://purl.obolibrary.org/obo/DOID_1003	pelvic inflammatory disease	http://purl.obolibrary.org/obo/DOID_229	female reproductive system disease		A female reproductive system disease that is characterized by an infection of the female reproductive organs.
http://purl.obolibrary.org/obo/DOID_10030	pulmonary interstitial emphysema	http://purl.obolibrary.org/obo/DOID_9675	pulmonary emphysema		A pulmonary emphysema that is characterized by the abnormal location of gas within the pulmonary interstitium and lymphatics usually due to positive pressure ventilation.
http://purl.obolibrary.org/obo/DOID_10031	compensatory emphysema	http://purl.obolibrary.org/obo/DOID_9675	pulmonary emphysema		A pulmonary emphysema that is characterized by overinflation of part of a lung in response to either removal by surgery of another part of the lung or deceased size of another part of the lung.
http://purl.obolibrary.org/obo/DOID_10032	hyperlucent lung	http://purl.obolibrary.org/obo/DOID_850	lung disease		A lung disease that is characterized by increased lucency compared to the other lung on a chest radiograph or CT.
http://purl.obolibrary.org/obo/DOID_10033	cycloplegia	http://purl.obolibrary.org/obo/DOID_10034	eye accommodation disease		An eye accommodation disease that is characterized by paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation.
http://purl.obolibrary.org/obo/DOID_10034	eye accommodation disease	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye disease that is characterized by decreased ability to change the optical power of the eye to maintain a clear image.
http://purl.obolibrary.org/obo/DOID_10035	asymptomatic neurosyphilis	http://purl.obolibrary.org/obo/DOID_9988	tertiary neurosyphilis		A tertiary neurosyphilis that results_in mild meningitis.
http://purl.obolibrary.org/obo/DOID_10039	late congenital syphilis	http://purl.obolibrary.org/obo/DOID_9856	congenital syphilis		A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities.
http://purl.obolibrary.org/obo/DOID_10040	malignant eyelid melanoma	http://purl.obolibrary.org/obo/DOID_8923	skin melanoma		A skin melanoma that arises from the upper or lower eyelid.
http://purl.obolibrary.org/obo/DOID_10041	dysplastic nevus syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by the presence of multiple dysplastic nevi (atypical moles) and a history of melanoma in two family members.
http://purl.obolibrary.org/obo/DOID_10044	balloon cell malignant melanoma	http://purl.obolibrary.org/obo/DOID_8923	skin melanoma		A skin melanoma that is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm.
http://purl.obolibrary.org/obo/DOID_10047	nodular malignant melanoma	http://purl.obolibrary.org/obo/DOID_8923	skin melanoma		A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule.
http://purl.obolibrary.org/obo/DOID_1005	endometrial disease	http://purl.obolibrary.org/obo/DOID_345	uterine disease		A uterine disease that is located_in the endometrium.
http://purl.obolibrary.org/obo/DOID_10054	skin amelanotic melanoma	http://purl.obolibrary.org/obo/DOID_8923	skin melanoma		A skin melanoma that is characterized by a lack of melanin pigment in most of the melanoma tumor cells.
http://purl.obolibrary.org/obo/DOID_10069	subglottis benign neoplasm	http://purl.obolibrary.org/obo/DOID_2598	laryngeal benign neoplasm		A laryngeal benign neoplasm that is located_in the subglottic area of the larynx.
http://purl.obolibrary.org/obo/DOID_10070	larynx leiomyoma	http://purl.obolibrary.org/obo/DOID_2598	laryngeal benign neoplasm		A laryngeal benign neoplasm that derives_from smooth muscle cells.
http://purl.obolibrary.org/obo/DOID_10071	larynx squamous papilloma	http://purl.obolibrary.org/obo/DOID_2598	laryngeal benign neoplasm		A laryngeal benign neoplasm that is characterized by the presence of a connective tissue core covered by stratified squamous epithelium and that has_symptom hoarseness.
http://purl.obolibrary.org/obo/DOID_10073	syphilitic meningitis	http://purl.obolibrary.org/obo/DOID_9470	bacterial meningitis		A bacterial meningitis that is characterized by inflammation of the tissues covering the brain and spinal cord.
http://purl.obolibrary.org/obo/DOID_10074	hymenolepiasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness.
http://purl.obolibrary.org/obo/DOID_10075	diphyllobothriasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia.
http://purl.obolibrary.org/obo/DOID_10079	cysticercosis	http://purl.obolibrary.org/obo/DOID_5614	eye disease		A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions.
http://purl.obolibrary.org/obo/DOID_10080	sparganosis	http://purl.obolibrary.org/obo/DOID_936	brain disease		A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected.
http://purl.obolibrary.org/obo/DOID_10081	syphilitic encephalitis	http://purl.obolibrary.org/obo/DOID_9588	encephalitis		An encephalitis that has_material_basis_in central neural system infection by Treponema pallidum.
http://purl.obolibrary.org/obo/DOID_10087	gastric leiomyoma	http://purl.obolibrary.org/obo/DOID_0050624	gastrointestinal system benign neoplasm		A gastrointestinal system benign neoplasm that is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
http://purl.obolibrary.org/obo/DOID_10095	intracranial abscess	http://purl.obolibrary.org/obo/DOID_331	central nervous system disease		A central nervous system disease that is located_in the skull and is characterized by a collection of pus (infected material) inside the skull.
http://purl.obolibrary.org/obo/DOID_10112	sleeping sickness	http://purl.obolibrary.org/obo/DOID_10113	trypanosomiasis		A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances.
http://purl.obolibrary.org/obo/DOID_10113	trypanosomiasis	http://purl.obolibrary.org/obo/DOID_2789	parasitic protozoa infectious disease		A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans.
http://purl.obolibrary.org/obo/DOID_10122	hyperpigmentation of eyelid	http://purl.obolibrary.org/obo/DOID_530	eyelid disease		An eyelid disease that is characterized by dark eyelids.
http://purl.obolibrary.org/obo/DOID_10123	pigmentation disease	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease that is characterized by discoloration of the skin.
http://purl.obolibrary.org/obo/DOID_10124	corneal disease	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye disease that affects the cornea, which is the transparent surface of the eye that assists in light refraction.
http://purl.obolibrary.org/obo/DOID_10125	acute hydrops keratoconus	http://purl.obolibrary.org/obo/DOID_10126	keratoconus		A keratoconus that is characterized by stromal edema due to leakage of aqueous humor through a tear in Descemet's membrane.
http://purl.obolibrary.org/obo/DOID_10126	keratoconus	http://purl.obolibrary.org/obo/DOID_10124	corneal disease		A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.
http://purl.obolibrary.org/obo/DOID_10127	cerebral artery occlusion	http://purl.obolibrary.org/obo/DOID_6713	cerebrovascular disease		A cerebrovascular disease that is characterized by blockage in one or more of the cerebral arteries.
http://purl.obolibrary.org/obo/DOID_10128	venous insufficiency	http://purl.obolibrary.org/obo/DOID_866	vein disease		A vein disease that is characterized by impaired flow of blood through the veins.
http://purl.obolibrary.org/obo/DOID_10131	psychologic vaginismus	http://purl.obolibrary.org/obo/DOID_10132	psychosexual disorder		A psychosexual disorder that is characterized by involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause.
http://purl.obolibrary.org/obo/DOID_10132	psychosexual disorder	http://purl.obolibrary.org/obo/DOID_0060043	sexual health disorder		A sexual disorder that is characterized as a sexual problem that is psychological, rather than physiological in origin.
http://purl.obolibrary.org/obo/DOID_10138	xerophthalmia	http://purl.obolibrary.org/obo/DOID_10140	dry eye syndrome		A dry eye syndrome that is characterized by conjunctival and corneal xerosis, Bitot's spots, keratomalacia, nyctalopia, and retinopathy resulting from vitamin A deficiency.
http://purl.obolibrary.org/obo/DOID_10140	dry eye syndrome	http://purl.obolibrary.org/obo/DOID_1400	lacrimal apparatus disease		A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.
http://purl.obolibrary.org/obo/DOID_10146	thymus lymphoma	http://purl.obolibrary.org/obo/DOID_3277	thymus cancer		A thymus cancer that arises from the thymus.
http://purl.obolibrary.org/obo/DOID_10149	long bones of lower limb cancer	http://purl.obolibrary.org/obo/DOID_184	bone cancer		A bone cancer that is manifested in the long bones of the lower limb.
http://purl.obolibrary.org/obo/DOID_10151	malignant neoplasm of short bones of lower limb	http://purl.obolibrary.org/obo/DOID_184	bone cancer		A bone cancer that is located in the short bones of lower limbs.
http://purl.obolibrary.org/obo/DOID_10152	Meckel's diverticulum cancer	http://purl.obolibrary.org/obo/DOID_10153	ileum cancer		An ileum cancer originating from Meckel's diverticulum.
http://purl.obolibrary.org/obo/DOID_10153	ileum cancer	http://purl.obolibrary.org/obo/DOID_10154	small intestine cancer		A small intestine cancer that is located_in the ileum.
http://purl.obolibrary.org/obo/DOID_10154	small intestine cancer	http://purl.obolibrary.org/obo/DOID_10155	intestinal cancer		An intestinal cancer that is located_in the small intestine.
http://purl.obolibrary.org/obo/DOID_10155	intestinal cancer	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		A gastrointestinal system cancer that is located_in the intestine.
http://purl.obolibrary.org/obo/DOID_10156	benign ileal neoplasm	http://purl.obolibrary.org/obo/DOID_7505	small intestine benign neoplasm		A small intestine benign neoplasm that affects the wall of the ileum.
http://purl.obolibrary.org/obo/DOID_10159	osteonecrosis	http://purl.obolibrary.org/obo/DOID_0080008	ischemic bone disease		An ischemic bone disease that results_in necrosis located_in bone.
http://purl.obolibrary.org/obo/DOID_10175	optic papillitis	http://purl.obolibrary.org/obo/DOID_1210	optic neuritis		An optic neuritis that is characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins resulting in swelling around the optic disc.
http://purl.obolibrary.org/obo/DOID_10176	neuroretinitis	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye disease that is characterized by inflammation of the retina.
http://purl.obolibrary.org/obo/DOID_10183	endobronchial lipoma	http://purl.obolibrary.org/obo/DOID_3906	bronchial benign neoplasm		A lipoma that is located within the lumen of a bronchus.
http://purl.obolibrary.org/obo/DOID_10184	spindle cell lipoma	http://purl.obolibrary.org/obo/DOID_3315	lipoma		A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men.
http://purl.obolibrary.org/obo/DOID_10187	esophageal lipoma	http://purl.obolibrary.org/obo/DOID_6050	esophageal disease		A lipoma located in the esophagus.
http://purl.obolibrary.org/obo/DOID_10188	skin lipoma	http://purl.obolibrary.org/obo/DOID_3315	lipoma		A skin benign neoplasm that derives_from fat cells.
http://purl.obolibrary.org/obo/DOID_1019	osteomyelitis	http://purl.obolibrary.org/obo/DOID_3342	bone inflammation disease		A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow.
http://purl.obolibrary.org/obo/DOID_10190	liver lipoma	http://purl.obolibrary.org/obo/DOID_916	liver benign neoplasm		A lipoma located in the liver.
http://purl.obolibrary.org/obo/DOID_10192	pleomorphic lipoma	http://purl.obolibrary.org/obo/DOID_3315	lipoma		A lipoma that is characterized by floret giant cells with overlapping nuclei.
http://purl.obolibrary.org/obo/DOID_10193	conventional lipoma	http://purl.obolibrary.org/obo/DOID_3315	lipoma		A lipoma that is characterized as a benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones.
http://purl.obolibrary.org/obo/DOID_10194	kidney lipoma	http://purl.obolibrary.org/obo/DOID_3315	lipoma		A lipoma that is located in the kidney.
http://purl.obolibrary.org/obo/DOID_10195	pleural lipoma	http://purl.obolibrary.org/obo/DOID_3315	lipoma		A respiratory system benign neoplasm that derives_from fat cells and is located_in the pleura.
http://purl.obolibrary.org/obo/DOID_10199	breast lipoma	http://purl.obolibrary.org/obo/DOID_3315	lipoma		A breast benign neoplasm that is composed of lipocytes.
http://purl.obolibrary.org/obo/DOID_10200	chest wall lipoma	http://purl.obolibrary.org/obo/DOID_3315	lipoma		A thoracic benign neoplasm that derives_from fat cells and is located_in the chest wall.
http://purl.obolibrary.org/obo/DOID_10201	gallbladder lipoma	http://purl.obolibrary.org/obo/DOID_3315	lipoma		A gallbladder benign neoplasm that is located_in the gallbladder and derives_from fat cells.
http://purl.obolibrary.org/obo/DOID_10203	external ear lipoma	http://purl.obolibrary.org/obo/DOID_3315	lipoma		An auditory system benign neoplasm that is located in the external ear.
http://purl.obolibrary.org/obo/DOID_10205	axillary lipoma	http://purl.obolibrary.org/obo/DOID_3315	lipoma		An thoracic benign neoplasm that is located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue.
http://purl.obolibrary.org/obo/DOID_10206	lipoma of spermatic cord	http://purl.obolibrary.org/obo/DOID_10207	paratesticular lipoma		A paratesticular lipoma that is located_in the spermatic cord and derives_from fat cells.
http://purl.obolibrary.org/obo/DOID_10207	paratesticular lipoma	http://purl.obolibrary.org/obo/DOID_3315	lipoma		A reproductive organ benign neoplasm that derives_from fat cells located_in the paratesticular region.
http://purl.obolibrary.org/obo/DOID_10208	chondroid lipoma	http://purl.obolibrary.org/obo/DOID_3315	lipoma		A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women.
http://purl.obolibrary.org/obo/DOID_10209	extrahepatic bile duct lipoma	http://purl.obolibrary.org/obo/DOID_4138	bile duct disease		A biliary tract benign neoplasm that is located_in the extrahepatic bile duct and derives_from fat cells.
http://purl.obolibrary.org/obo/DOID_1022	pinta disease	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Treponema carateum, which is transmitted_by contact with skin and mucous membrane of an infected person. The infection has_symptom pruritic plaque, which slowly enlarges and becomes pigmented and hyperkeratotic.
http://purl.obolibrary.org/obo/DOID_10223	dermatomyositis	http://purl.obolibrary.org/obo/DOID_633	myositis		A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction.
http://purl.obolibrary.org/obo/DOID_1023	borderline leprosy	http://purl.obolibrary.org/obo/DOID_1024	leprosy		A leprosy that results in small numerous red irregularly shaped plaques.
http://purl.obolibrary.org/obo/DOID_10230	aortic atherosclerosis	http://purl.obolibrary.org/obo/DOID_1936	atherosclerosis		An atherosclerosis of the aorta.
http://purl.obolibrary.org/obo/DOID_10235	Brown's tendon sheath syndrome	http://purl.obolibrary.org/obo/DOID_9306	mechanical strabismus		A mechanical strabismus that is characterized by impairment of eye movements.
http://purl.obolibrary.org/obo/DOID_10236	exhibitionism	http://purl.obolibrary.org/obo/DOID_0060044	paraphilia disorder		A paraphilia disorder that is characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger.
http://purl.obolibrary.org/obo/DOID_1024	leprosy	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage.
http://purl.obolibrary.org/obo/DOID_10241	thalassemia	http://purl.obolibrary.org/obo/DOID_11252	microcytic anemia		A microcytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains.
http://purl.obolibrary.org/obo/DOID_10242	ehrlichiosis	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that results in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone star tick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash.
http://purl.obolibrary.org/obo/DOID_10247	pleurisy	http://purl.obolibrary.org/obo/DOID_1532	pleural disease		A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs.
http://purl.obolibrary.org/obo/DOID_1025	tuberculoid leprosy	http://purl.obolibrary.org/obo/DOID_1024	leprosy		A leprosy that results in one erythematous large plaque with well-defined borders that are elevated and that slope down into an atrophic center.
http://purl.obolibrary.org/obo/DOID_10250	louping ill	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results in infection in sheep and rarely humans, has_material_basis_in Louping ill virus (Orthoflavivirus loupingi), which is transmitted by sheep tick, Ixodes ricinus. The infection has symptom lethargy, has symptom muscle pains, has symptom fever, and has symptom focal neurological signs.
http://purl.obolibrary.org/obo/DOID_10261	otorrhea	http://purl.obolibrary.org/obo/DOID_2742	auditory system disease		An auditory system disease that is characterized by the discharge or drainage of fluid from the ear.
http://purl.obolibrary.org/obo/DOID_10264	mumps	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results in inflammation located in salivary gland, has_material_basis_in Mumps rubulavirus (Orthorubulavirus parotitidis), which is transmitted by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted by contaminated fomites. The infection has symptom fever, has symptom headache, has symptom muscle aches, has symptom tiredness, has symptom loss of appetite, has symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face.
http://purl.obolibrary.org/obo/DOID_10273	heart conduction disease	http://purl.obolibrary.org/obo/DOID_114	heart disease		A cardiovascular system disease that involves the heart's electrical conduction system.
http://purl.obolibrary.org/obo/DOID_10283	prostate cancer	http://purl.obolibrary.org/obo/DOID_47	prostate disease		A male reproductive organ cancer that is located_in the prostate.
http://purl.obolibrary.org/obo/DOID_10286	prostate carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
http://purl.obolibrary.org/obo/DOID_10287	prostate squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A squamous cell carcinoma that is located_in the prostate.
http://purl.obolibrary.org/obo/DOID_10289	prostate malignant phyllodes tumor	http://purl.obolibrary.org/obo/DOID_10283	prostate cancer		A prostate cancer that is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia and that arises from the prostate gland.
http://purl.obolibrary.org/obo/DOID_1029	familial periodic paralysis	http://purl.obolibrary.org/obo/DOID_896	metal metabolism disorder		A metal metabolism disorder that is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells.
http://purl.obolibrary.org/obo/DOID_10290	prostate lymphoma	http://purl.obolibrary.org/obo/DOID_10283	prostate cancer		A prostate cancer that affects lymphocytes and arises from the prostate gland.
http://purl.obolibrary.org/obo/DOID_10293	monocular esotropia	http://purl.obolibrary.org/obo/DOID_9840	esotropia		An esotropia that is characterized by an excessive convergence of the visual axes, resulting in a cross-eye appearance.
http://purl.obolibrary.org/obo/DOID_10300	Raynaud disease	http://purl.obolibrary.org/obo/DOID_341	peripheral vascular disease		A peripheral vascular disease that is characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or cyanosis in response to cold exposure or stress.
http://purl.obolibrary.org/obo/DOID_10301	parotitis	http://purl.obolibrary.org/obo/DOID_10302	parotid disease		A parotid disease characterized by the inflammation of one or both parotid glands.
http://purl.obolibrary.org/obo/DOID_10302	parotid disease	http://purl.obolibrary.org/obo/DOID_10854	salivary gland disease		A salivary gland disease that is located in the parotid gland.
http://purl.obolibrary.org/obo/DOID_10303	sialadenitis	http://purl.obolibrary.org/obo/DOID_10854	salivary gland disease		A salivary gland disease that is characterized as an infection of the salivary glands.
http://purl.obolibrary.org/obo/DOID_10310	viral meningitis	http://purl.obolibrary.org/obo/DOID_9471	meningitis		A meningitis that has_material_basis_in a viral infection.
http://purl.obolibrary.org/obo/DOID_10314	endocarditis	http://purl.obolibrary.org/obo/DOID_0050825	endocardium disease		A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves.
http://purl.obolibrary.org/obo/DOID_10316	pneumoconiosis	http://purl.obolibrary.org/obo/DOID_3082	interstitial lung disease		An interstitial lung disease that is caused by the inhalation of dust.
http://purl.obolibrary.org/obo/DOID_10319	mixed mineral dust pneumoconiosis	http://purl.obolibrary.org/obo/DOID_10316	pneumoconiosis		A pneumoconiosis caused by the inhalation of mixed mineral dust particles.
http://purl.obolibrary.org/obo/DOID_10320	asbestosis	http://purl.obolibrary.org/obo/DOID_10316	pneumoconiosis		A pneumoconiosis caused by inhalation and retention of asbestos fibers.
http://purl.obolibrary.org/obo/DOID_10321	baritosis	http://purl.obolibrary.org/obo/DOID_10316	pneumoconiosis		A pneumoconiosis that is characterized by the formation of fine dense lesions in the lung parenchyma, caused by long standing exposure to barium dust. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops.
http://purl.obolibrary.org/obo/DOID_10322	berylliosis	http://purl.obolibrary.org/obo/DOID_10316	pneumoconiosis		A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds.
http://purl.obolibrary.org/obo/DOID_10323	byssinosis	http://purl.obolibrary.org/obo/DOID_10316	pneumoconiosis		A pneumoconiosis that is characterized by hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp, and has symptoms of chest tightness, cough and wheezing.
http://purl.obolibrary.org/obo/DOID_10324	anthracosilicosis	http://purl.obolibrary.org/obo/DOID_10316	pneumoconiosis		A pneumoconiosis that is characterized by fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath and induces fibrous nodule formation in the lung.
http://purl.obolibrary.org/obo/DOID_10325	silicosis	http://purl.obolibrary.org/obo/DOID_10316	pneumoconiosis		A pneumoconiosis that is an inflammation and scarring of the upper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.
http://purl.obolibrary.org/obo/DOID_10326	Caplan's syndrome	http://purl.obolibrary.org/obo/DOID_10316	pneumoconiosis		A pneumoconiosis that results_in humans that also have rheumatoid arthritis.
http://purl.obolibrary.org/obo/DOID_10327	anthracosis	http://purl.obolibrary.org/obo/DOID_10316	pneumoconiosis		A pneumoconiosis that is characterized by deposition of carbon or coal dust in the lung parenchyma leading to the formation of black nodules and emphysema.
http://purl.obolibrary.org/obo/DOID_10328	siderosis	http://purl.obolibrary.org/obo/DOID_10316	pneumoconiosis		A pneumoconiosis that is characterized by the deposition of excess iron in body tissue resulting from inhalation of iron in the mining dust or welding fumes.
http://purl.obolibrary.org/obo/DOID_10329	pulmonary talcosis	http://purl.obolibrary.org/obo/DOID_10316	pneumoconiosis		A pneumoconiosis that is characterized by fibrosis and granulomatous changes in the lung parenchyma and resulting from exposure to talc.
http://purl.obolibrary.org/obo/DOID_10330	slate pneumoconiosis	http://purl.obolibrary.org/obo/DOID_10316	pneumoconiosis		A pneumoconiosis that is caused by exposure to slate dust.
http://purl.obolibrary.org/obo/DOID_10331	kaolin pneumoconiosis	http://purl.obolibrary.org/obo/DOID_10316	pneumoconiosis		A pneumoconiosis that is caused by inhalation of kaolin dust.
http://purl.obolibrary.org/obo/DOID_10337	glaucomatous atrophy of optic disc	http://purl.obolibrary.org/obo/DOID_5723	optic atrophy		An optic atrophy that is characterized by optic nerve damage with increased optic cup to disc ratio secondary to glaucoma, which is an eye disease related to abnormal aqueous fluid outflow that inappropriately raises intraocular pressure and results in optic nerve atrophy with progressive visual field loss. Glaucomatous atrophy of optic disc can be caused by any form of glaucoma.
http://purl.obolibrary.org/obo/DOID_10348	blepharophimosis	http://purl.obolibrary.org/obo/DOID_530	eyelid disease		An eyelid disease that is characterized by abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids.
http://purl.obolibrary.org/obo/DOID_10349	solitary cyst of breast	http://purl.obolibrary.org/obo/DOID_10350	breast cyst		A breast cyst that is characterized by single, fluid-filled cyst in the breast parenchyma.
http://purl.obolibrary.org/obo/DOID_1035	aggressive NK-cell leukemia	http://purl.obolibrary.org/obo/DOID_1240	leukemia		A leukemia that is characterized by the systemic proliferation of NK cells closely associated with Epstein-Barr virus and that is located_in the peripheral blood, bone marrow, liver, and spleen.
http://purl.obolibrary.org/obo/DOID_10350	breast cyst	http://purl.obolibrary.org/obo/DOID_0060082	breast benign neoplasm		A breast benign neoplasm that is characterized by a fluid-filled sac.
http://purl.obolibrary.org/obo/DOID_10352	breast fibroadenosis	http://purl.obolibrary.org/obo/DOID_0060082	breast benign neoplasm		A breast benign neoplasm that has_material_basis_in fibrous tissue and epithelial tissue in which tumor cells form glands or glandlike structures.
http://purl.obolibrary.org/obo/DOID_10353	fibrosclerosis of breast	http://purl.obolibrary.org/obo/DOID_5997	non-proliferative fibrocystic change of the breast		A non-proliferative fibrocystic change of the breast that contains scar tissue.
http://purl.obolibrary.org/obo/DOID_10354	breast fibrocystic disease	http://purl.obolibrary.org/obo/DOID_0060082	breast benign neoplasm		A breast benign neoplasm that has_material_basis_in fibrous tissue and is characterized by the development of cystic spaces.
http://purl.obolibrary.org/obo/DOID_1036	chronic leukemia	http://purl.obolibrary.org/obo/DOID_1240	leukemia		A leukemia that develops slowly.
http://purl.obolibrary.org/obo/DOID_10361	eosinophilic meningitis	http://purl.obolibrary.org/obo/DOID_10341	chronic meningitis		A chronic meningitis that is characterized by the presence of 10 or more eosinophils/microL in the cerebrospinal fluid (CSF) or a CSF eosinophilia of at least 10 percent. Symptoms of this condition range from mild headache to severe, throbbing headache, dizziness, nausea, vomiting, fever, neck stiffness, paresthesia, and stabbing pain in the trunk and limbs aggravated by touch.
http://purl.obolibrary.org/obo/DOID_10366	epididymis cancer	http://purl.obolibrary.org/obo/DOID_0080373	epididymis disease		A male reproductive organ cancer that is located in the epididymis.
http://purl.obolibrary.org/obo/DOID_10368	epididymis adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		An epididymis cancer that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_1037	lymphoid leukemia	http://purl.obolibrary.org/obo/DOID_1240	leukemia		A leukemia that has_material_basis_in a B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood.
http://purl.obolibrary.org/obo/DOID_10371	yaws	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that results in infection located in skin, located in joint or located in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted by direct skin contact with an infected person. The infection has symptom skin lesions.
http://purl.obolibrary.org/obo/DOID_10375	strabismic amblyopia	http://purl.obolibrary.org/obo/DOID_10376	amblyopia		An amblyopia that is characterized by strabismus or eye misalignment. The brain begins to ignore the eye that is not straight and the vision subsequently drops in that eye.
http://purl.obolibrary.org/obo/DOID_10376	amblyopia	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye disease that is characterized by poor vision in one eye resulting from the brain failing to process inputs from one eye and over time favors the other eye. The weaker or lazy eye often wanders inward or outward.
http://purl.obolibrary.org/obo/DOID_10377	refractive amblyopia	http://purl.obolibrary.org/obo/DOID_10376	amblyopia		An amblyopia that is characterized by refractive error in one or both eyes that is not corrected early in childhood resulting in poor development of the visual function in the affected eye(s).
http://purl.obolibrary.org/obo/DOID_10378	deprivation amblyopia	http://purl.obolibrary.org/obo/DOID_10376	amblyopia		An amblyopia that is characterized by a structural anomaly that impairs vision like a droopy eyelid or an opacity in the eye, such as a cataract or corneal scar.
http://purl.obolibrary.org/obo/DOID_10383	amyotrophic neuralgia	http://purl.obolibrary.org/obo/DOID_3690	brachial plexus neuropathy		A brachial plexus neuropathy that is characterized by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm, and that has_material_basis_in heterozygous mutation in the SEPT9 gene on chromosome 17q25.
http://purl.obolibrary.org/obo/DOID_1039	prolymphocytic leukemia	http://purl.obolibrary.org/obo/DOID_1040	chronic lymphocytic leukemia		A chronic lymphocytic leukemia that is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen.
http://purl.obolibrary.org/obo/DOID_10398	pneumonic plague	http://purl.obolibrary.org/obo/DOID_850	lung disease		A plague that results_in infection located_in lung, which results from direct inhalation of the bacillus and has_symptom fever, has_symptom chills, has_symptom cough and has_symptom difficulty breathing.
http://purl.obolibrary.org/obo/DOID_104	bacterial infectious disease	http://purl.obolibrary.org/obo/DOID_0050117	disease by infectious agent		A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.
http://purl.obolibrary.org/obo/DOID_1040	chronic lymphocytic leukemia	http://purl.obolibrary.org/obo/DOID_1037	lymphoid leukemia		A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood.
http://purl.obolibrary.org/obo/DOID_10426	Klippel-Feil syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra.
http://purl.obolibrary.org/obo/DOID_10435	purulent acute otitis media	http://purl.obolibrary.org/obo/DOID_11506	suppurative otitis media		A suppurative otitis media with sudden onset and a short course.
http://purl.obolibrary.org/obo/DOID_10439	Mooren's ulcer	http://purl.obolibrary.org/obo/DOID_8463	corneal ulcer		A corneal ulcer that is characterized by painful peripheral corneal ulceration, sterile limbal inflammation, and episcleral and conjunctival edema.
http://purl.obolibrary.org/obo/DOID_10440	mycotic corneal ulcer	http://purl.obolibrary.org/obo/DOID_8463	corneal ulcer		A corneal ulcer that is characterized by ulceration of the cornea secondary to fungal infection and is caused by minor trauma and subsequent infection by mycotic organisms, such as candida, aspergillus, fusarium, and rhizopus.
http://purl.obolibrary.org/obo/DOID_10441	marginal corneal ulcer	http://purl.obolibrary.org/obo/DOID_8463	corneal ulcer		A corneal ulcer that is characterized by infiltrate formation in the marginal zone that is parallel but separated from the limbus.
http://purl.obolibrary.org/obo/CL_0000623	natural killer cell	http://purl.obolibrary.org/obo/CL_0001067	group 1 innate lymphoid cell		
http://purl.obolibrary.org/obo/CL_0000630	supporting cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0000988	hematopoietic cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0001035	bone cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0002174	follicular cell of ovary	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0002242	nucleate cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0002319	neural cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0002320	connective tissue cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0002321	embryonic cell (metazoa)	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0007001	skeletogenic cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_2000004	pituitary gland cell	http://purl.obolibrary.org/obo/CL_0002319	neural cell		
http://purl.obolibrary.org/obo/CL_0000675	female gamete	http://purl.obolibrary.org/obo/CL_0000300	gamete		
http://purl.obolibrary.org/obo/CL_0000723	somatic stem cell	http://purl.obolibrary.org/obo/CL_0000034	stem cell		
http://purl.obolibrary.org/obo/CL_0000646	basal cell	http://purl.obolibrary.org/obo/CL_0000036	epithelial fate stem cell		
http://purl.obolibrary.org/obo/CL_0000586	germ cell	http://purl.obolibrary.org/obo/CL_0000039	germ line cell		
http://purl.obolibrary.org/obo/CL_0000670	primordial germ cell	http://purl.obolibrary.org/obo/CL_0000219	motile cell		
http://purl.obolibrary.org/obo/CL_0000500	follicular epithelial cell	http://purl.obolibrary.org/obo/CL_0000066	epithelial cell		
http://purl.obolibrary.org/obo/CL_0002076	endo-epithelial cell	http://purl.obolibrary.org/obo/CL_0000066	epithelial cell		
http://purl.obolibrary.org/obo/CL_0002077	ecto-epithelial cell	http://purl.obolibrary.org/obo/CL_0000066	epithelial cell		
http://purl.obolibrary.org/obo/CL_0002078	meso-epithelial cell	http://purl.obolibrary.org/obo/CL_0000066	epithelial cell		
http://purl.obolibrary.org/obo/CL_0002257	epithelial cell of thyroid gland	http://purl.obolibrary.org/obo/CL_0002076	endo-epithelial cell		
http://purl.obolibrary.org/obo/CL_0002260	epithelial cell of parathyroid gland	http://purl.obolibrary.org/obo/CL_0002076	endo-epithelial cell		
http://purl.obolibrary.org/obo/CL_0002625	seminiferous tubule epithelial cell	http://purl.obolibrary.org/obo/CL_0000077	mesothelial cell		
http://purl.obolibrary.org/obo/CL_1001433	epithelial cell of exocrine pancreas	http://purl.obolibrary.org/obo/CL_0000083	epithelial cell of pancreas		
http://purl.obolibrary.org/obo/CL_0000710	neurecto-epithelial cell	http://purl.obolibrary.org/obo/CL_0002077	ecto-epithelial cell		
http://purl.obolibrary.org/obo/CL_0000446	chief cell of parathyroid gland	http://purl.obolibrary.org/obo/CL_1001593	parathyroid glandular cell		
http://purl.obolibrary.org/obo/CL_0000767	basophil	http://purl.obolibrary.org/obo/CL_0000094	granulocyte		
http://purl.obolibrary.org/obo/CL_0000771	eosinophil	http://purl.obolibrary.org/obo/CL_0000094	granulocyte		
http://purl.obolibrary.org/obo/CL_0000451	dendritic cell	http://purl.obolibrary.org/obo/CL_0000738	leukocyte		
http://purl.obolibrary.org/obo/CL_0002573	Schwann cell	http://purl.obolibrary.org/obo/CL_0000125	glial cell		
http://purl.obolibrary.org/obo/CL_0000785	mature B cell	http://purl.obolibrary.org/obo/CL_0001201	B cell, CD19-positive		
http://purl.obolibrary.org/obo/CL_0000622	acinar cell	http://purl.obolibrary.org/obo/CL_0000154	protein secreting cell		
http://purl.obolibrary.org/obo/CL_0000637	chromophil cell of anterior pituitary gland	http://purl.obolibrary.org/obo/CL_2000004	pituitary gland cell		
http://purl.obolibrary.org/obo/CL_1001593	parathyroid glandular cell	http://purl.obolibrary.org/obo/CL_0002260	epithelial cell of parathyroid gland		
http://purl.obolibrary.org/obo/CL_1001599	pancreas exocrine glandular cell	http://purl.obolibrary.org/obo/CL_1001433	epithelial cell of exocrine pancreas		
http://purl.obolibrary.org/obo/CL_0000443	calcitonin secreting cell	http://purl.obolibrary.org/obo/CL_0000167	peptide hormone secreting cell		
http://purl.obolibrary.org/obo/CL_0000447	carbohydrate secreting cell	http://purl.obolibrary.org/obo/CL_0000151	secretory cell		
http://purl.obolibrary.org/obo/CL_0000457	biogenic amine secreting cell	http://purl.obolibrary.org/obo/CL_0000151	secretory cell		
http://purl.obolibrary.org/obo/CL_0000458	serotonin secreting cell	http://purl.obolibrary.org/obo/CL_0000457	biogenic amine secreting cell		
http://purl.obolibrary.org/obo/CL_0000467	adrenocorticotropic hormone secreting cell	http://purl.obolibrary.org/obo/CL_0000167	peptide hormone secreting cell		
http://purl.obolibrary.org/obo/CL_0002274	histamine secreting cell	http://purl.obolibrary.org/obo/CL_0000457	biogenic amine secreting cell		
http://purl.obolibrary.org/obo/CL_0000511	androgen binding protein secreting cell	http://purl.obolibrary.org/obo/CL_0000154	protein secreting cell		
http://purl.obolibrary.org/obo/CL_0000570	parafollicular cell	http://purl.obolibrary.org/obo/CL_0002257	epithelial cell of thyroid gland		
http://purl.obolibrary.org/obo/CL_0000641	chromophobe cell	http://purl.obolibrary.org/obo/CL_0000163	endocrine cell		
http://purl.obolibrary.org/obo/CL_0000568	amine precursor uptake and decarboxylation cell	http://purl.obolibrary.org/obo/CL_0000165	neuroendocrine cell		
http://purl.obolibrary.org/obo/CL_0000501	granulosa cell	http://purl.obolibrary.org/obo/CL_0002174	follicular cell of ovary		
http://purl.obolibrary.org/obo/CL_0000669	pericyte	http://purl.obolibrary.org/obo/CL_0008034	mural cell		
http://purl.obolibrary.org/obo/CL_0008000	non-striated muscle cell	http://purl.obolibrary.org/obo/CL_0000187	muscle cell		
http://purl.obolibrary.org/obo/CL_0008007	visceral muscle cell	http://purl.obolibrary.org/obo/CL_0000187	muscle cell		
http://purl.obolibrary.org/obo/CL_0000738	leukocyte	http://purl.obolibrary.org/obo/CL_0002242	nucleate cell		
http://purl.obolibrary.org/obo/CL_0002418	hemangioblast	http://purl.obolibrary.org/obo/CL_0000222	mesodermal cell		
http://purl.obolibrary.org/obo/CL_0000842	mononuclear leukocyte	http://purl.obolibrary.org/obo/CL_0000738	leukocyte		
http://purl.obolibrary.org/obo/CL_0000518	phagocyte (sensu Vertebrata)	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0002150	epithelioid macrophage	http://purl.obolibrary.org/obo/CL_0000235	macrophage		
http://purl.obolibrary.org/obo/CL_0002190	squamous cell of epidermis	http://purl.obolibrary.org/obo/CL_4052061	epidermal keratinocyte		
http://purl.obolibrary.org/obo/CL_0000763	myeloid cell	http://purl.obolibrary.org/obo/CL_0000988	hematopoietic cell		
http://purl.obolibrary.org/obo/CL_0000667	collagen secreting cell	http://purl.obolibrary.org/obo/CL_0000327	extracellular matrix secreting cell		
http://purl.obolibrary.org/obo/CL_0000540	neuron	http://purl.obolibrary.org/obo/CL_0002319	neural cell		
http://purl.obolibrary.org/obo/CL_0000442	follicular dendritic cell	http://purl.obolibrary.org/obo/CL_0000451	dendritic cell		
http://purl.obolibrary.org/obo/CL_0000990	conventional dendritic cell	http://purl.obolibrary.org/obo/CL_0000451	dendritic cell		
http://purl.obolibrary.org/obo/CL_0002309	corticotroph	http://purl.obolibrary.org/obo/CL_0000639	basophil cell of pars distalis of adenohypophysis		
http://purl.obolibrary.org/obo/CL_0002132	stromal cell of ovary	http://purl.obolibrary.org/obo/CL_0000499	stromal cell		
http://purl.obolibrary.org/obo/CL_0002303	pigmented ciliary epithelial cell	http://purl.obolibrary.org/obo/CL_0000529	pigmented epithelial cell		
http://purl.obolibrary.org/obo/CL_0000527	efferent neuron	http://purl.obolibrary.org/obo/CL_0000540	neuron		
http://purl.obolibrary.org/obo/CL_0012001	neuron of the forebrain	http://purl.obolibrary.org/obo/CL_2000029	central nervous system neuron		
http://purl.obolibrary.org/obo/CL_0000945	lymphocyte of B lineage	http://purl.obolibrary.org/obo/CL_0000542	lymphocyte		
http://purl.obolibrary.org/obo/CL_0002064	pancreatic acinar cell	http://purl.obolibrary.org/obo/CL_1001599	pancreas exocrine glandular cell		
http://purl.obolibrary.org/obo/CL_0000639	basophil cell of pars distalis of adenohypophysis	http://purl.obolibrary.org/obo/CL_0000637	chromophil cell of anterior pituitary gland		
http://purl.obolibrary.org/obo/CL_0000529	pigmented epithelial cell	http://purl.obolibrary.org/obo/CL_0000710	neurecto-epithelial cell		
http://purl.obolibrary.org/obo/CL_0000542	lymphocyte	http://purl.obolibrary.org/obo/CL_0000842	mononuclear leukocyte		
http://purl.obolibrary.org/obo/CL_0000766	myeloid leukocyte	http://purl.obolibrary.org/obo/CL_0000763	myeloid cell		
http://purl.obolibrary.org/obo/CL_0000764	erythroid lineage cell	http://purl.obolibrary.org/obo/CL_0000763	myeloid cell		
http://purl.obolibrary.org/obo/CL_0000453	Langerhans cell	http://purl.obolibrary.org/obo/CL_0000990	conventional dendritic cell		
http://purl.obolibrary.org/obo/CL_0000845	marginal zone B cell of spleen	http://purl.obolibrary.org/obo/CL_2000074	splenocyte		
http://purl.obolibrary.org/obo/CL_0000946	antibody secreting cell	http://purl.obolibrary.org/obo/CL_0000945	lymphocyte of B lineage		
http://purl.obolibrary.org/obo/CL_0000786	plasma cell	http://purl.obolibrary.org/obo/CL_0000946	antibody secreting cell		
http://purl.obolibrary.org/obo/CL_0002157	endosteal cell	http://purl.obolibrary.org/obo/CL_0002078	meso-epithelial cell		
http://purl.obolibrary.org/obo/CL_0002159	general ecto-epithelial cell	http://purl.obolibrary.org/obo/CL_0002077	ecto-epithelial cell		
http://purl.obolibrary.org/obo/CL_0000503	theca cell	http://purl.obolibrary.org/obo/CL_0002174	follicular cell of ovary		
http://purl.obolibrary.org/obo/CL_0009004	retinal cell	http://purl.obolibrary.org/obo/CL_0002319	neural cell		
http://purl.obolibrary.org/obo/CL_0000499	stromal cell	http://purl.obolibrary.org/obo/CL_0002320	connective tissue cell		
http://purl.obolibrary.org/obo/DOID_10211	cholelithiasis	http://purl.obolibrary.org/obo/DOID_0060262	gallbladder disease		
http://purl.obolibrary.org/obo/DOID_10254	strawberry gallbladder	http://purl.obolibrary.org/obo/DOID_0060262	gallbladder disease		
http://purl.obolibrary.org/obo/DOID_10428	stable condition keratoconus	http://purl.obolibrary.org/obo/DOID_10126	keratoconus		
http://purl.obolibrary.org/obo/DOID_10272	left bundle branch hemiblock	http://purl.obolibrary.org/obo/DOID_10273	heart conduction disease		
http://purl.obolibrary.org/obo/DOID_10399	seminal vesicle chronic gonorrhea	http://purl.obolibrary.org/obo/DOID_10400	gonococcal seminal vesiculitis		
http://purl.obolibrary.org/obo/DOID_10442	hypopyon ulcer	http://purl.obolibrary.org/obo/DOID_10443	hypopyon		
http://purl.obolibrary.org/obo/DOID_10177	malignant hypertensive renal disease	http://purl.obolibrary.org/obo/DOID_1073	renal hypertension		
http://purl.obolibrary.org/obo/DOID_10174	lacrimal passage granuloma	http://purl.obolibrary.org/obo/DOID_1400	lacrimal apparatus disease		
http://purl.obolibrary.org/obo/DOID_10234	histoplasmosis pericarditis	http://purl.obolibrary.org/obo/DOID_1787	pericarditis		
http://purl.obolibrary.org/obo/DOID_10393	secondary hypertrophic osteoarthropathy	http://purl.obolibrary.org/obo/DOID_381	arthropathy		
http://purl.obolibrary.org/obo/DOID_10139	conjunctival degeneration	http://purl.obolibrary.org/obo/DOID_9799	eye degenerative disease		
http://purl.obolibrary.org/obo/DOID_10400	gonococcal seminal vesiculitis	http://purl.obolibrary.org/obo/DOID_9365	vesiculitis		
http://purl.obolibrary.org/obo/DOID_10423	acute pericementitis	http://purl.obolibrary.org/obo/DOID_824	periodontitis		
http://purl.obolibrary.org/obo/DOID_10443	hypopyon	http://purl.obolibrary.org/obo/DOID_9383	iridocyclitis		
http://purl.obolibrary.org/obo/DOID_10266	subendocardial infarction acute myocardial infarction	http://purl.obolibrary.org/obo/DOID_9408	acute myocardial infarction		
http://purl.obolibrary.org/obo/DOID_10341	chronic meningitis	http://purl.obolibrary.org/obo/DOID_9471	meningitis		
http://purl.obolibrary.org/obo/DOID_0081062	obsolete diabetes				A glucose metabolism disease that is characterized by high blood glucose.
http://purl.obolibrary.org/obo/DOID_0080546	obsolete non-alcoholic fatty liver				A metabolic dysfunction-associated steatotic liver disease characterized by the absence of inflammation and hepatocyte injury in the form of hepatocyte ballooning.
http://purl.obolibrary.org/obo/DOID_1758	obsolete Histoplasma capsulatum pneumonia				An American histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain.
http://purl.obolibrary.org/obo/DOID_1804	obsolete coxsackie pericarditis				A coxsackie carditis that results_in inflammation located_in pericardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom acute chest pain, has_symptom disturbance of heart rate, and has_symptom dyspnea.
http://purl.obolibrary.org/obo/DOID_1805	obsolete coxsackie carditis				An Enterovirus infectious disease that results_in inflammation located_in heart, has_material_basis_in Human enterovirus B, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions.
http://purl.obolibrary.org/obo/DOID_1806	obsolete coxsackie endocarditis				A coxsackie carditis that results_in inflammation located_in endocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions.
http://purl.obolibrary.org/obo/DOID_1845	obsolete Strongylida infectious disease				A Rhabditida infectious disease that involves parasitic infection of gastrointestinal tracts of ruminants, horses, cats, dogs, swine and humans by nematodes belonging to the suborder Strongylida.
http://purl.obolibrary.org/obo/DOID_1886	obsolete Flaviviridae infectious disease				A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Flaviviridae viruses, which are transmitted_by arthropod vectors.
http://purl.obolibrary.org/obo/DOID_1982	obsolete Rhabdoviridae infectious disease				A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Rhabdoviridae viruses.
http://purl.obolibrary.org/obo/DOID_1983	obsolete Mononegavirales infectious disease				A (-)ssRNA virus infectious disease that results_in infection in humans, has_material_basis_in Mononegavirales viruses.
http://purl.obolibrary.org/obo/DOID_2005	obsolete tracheal tuberculosis				A pulmonary tuberculosis involving inflammation that causes extensive thickening of the walls of the trachea with luminal narrowing.
http://purl.obolibrary.org/obo/DOID_2089	obsolete constipation				A bowel dysfunction that is characterized by infrequent or difficult evacuation of feces.
http://purl.obolibrary.org/obo/DOID_2108	obsolete transplant-related disease				An immune system disease that is related to the transplantation of cells, tissues and/or whole organs from one individual to another.
http://purl.obolibrary.org/obo/DOID_2271	obsolete oropharyngeal candidiasis				A candidiasis that involves fungal infection of the oropharynx in immunocompromised patients caused by Candida species resulting in formation of white plaques on the buccal mucosa, tongue, gums, palate, or pharynx. The symptoms include burning or dryness of the mouth, loss of taste, and pain on swallowing.
http://purl.obolibrary.org/obo/DOID_2324	obsolete coxsackie meningitis				An Enterovirus infectious disease that results_in inflammation located_in meningeal cluster, has_material_basis_in Human enterovirus B, which is transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, and has_symptom neck pain.
http://purl.obolibrary.org/obo/DOID_2328	obsolete astrovirus gastroenteritis				A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human astrovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom watery diarrhea, has_symptom nausea, has_symptom abdominal pain, has_symptom vomiting, and has_symptom fever.
http://purl.obolibrary.org/obo/DOID_2329	obsolete Rotavirus gastroenteritis				A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain.
http://purl.obolibrary.org/obo/DOID_2334	obsolete metastatic carcinoma				A carcinoma that is able to grow at sites distant from the primary site of origin.
http://purl.obolibrary.org/obo/DOID_2381	obsolete Vibrio cholerae O1 biovar El Tor cholera				A cholera that involves infection of the intestine caused by Vibrio cholerae serogroup O1 biovar El Tor.
http://purl.obolibrary.org/obo/DOID_2503	obsolete AIDS-related vulvovaginal candidiasis				A vulvovaginal candidiasis that involves fungal infection of the vaginal mucous membranes by Candida albicans in AIDS patients.
http://purl.obolibrary.org/obo/DOID_2528	obsolete myeloid metaplasia				A myeloma and spenic disease that is located_in the bone marrow that results_in the marrow being replaced by fibrous (scar) tissue and has_symptom abdominal fullness related to an enlarged spleen, has_symptom bone pain, has_symptom bruising, has_symptom easy bleeding, has_symptom fatigue, has_symptom increased susceptibility to infection, has_symptom pallor, has_symtom shortness of breath while doing physical work.
http://purl.obolibrary.org/obo/DOID_2678	obsolete adult mesoblastic nephroma				A mixed neoplasm that is seen mostly in early infancy and that consists of classic and cellular (atypical) variants.
http://purl.obolibrary.org/obo/DOID_2788	obsolete Ciliophora infectious disease				An Alveolata infectious disease that involves infection caused by the members of the phylum Ciliophora, which are characterized by the presence of hair-like organelles called cilia.
http://purl.obolibrary.org/obo/DOID_2791	obsolete hookworm infectious disease				A Strongylida infectious disease that involves infection of the small intestine of mammals, cats and dogs by the parasitic nematodes of genus Ancylostoma, Necator and Uncinaria.
http://purl.obolibrary.org/obo/DOID_2880	obsolete Hantavirus infectious disease				A viral infectious disease that results_in infection, located_in lungs or located_in kidney, has_material_basis_in Hantavirus, which is transmitted_by rodents. The infection has_symptom renal failure, has_symptom hemorrhagic manifestations, and has_symptom pulmonary edema.
http://purl.obolibrary.org/obo/DOID_2906	obsolete Rhabditida infectious disease				A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Rhabditida, characterized by oral aperture with 2, 3 or 6 lips.
http://purl.obolibrary.org/obo/DOID_2918	obsolete paraproteinemia				A hypersensitivity reaction type IV disease that results from the presence of excessive amounts of a single monoclonal gammaglobulin in the blood.
http://purl.obolibrary.org/obo/DOID_2930	obsolete Avulavirus infectious disease				A Paramyxoviridae infectious disease that results_in infection in birds and rarely humans, has_material_basis_in Avulavirus, which is transmitted_by direct contact with droppings and secretions from the nose, mouth, and eyes.
http://purl.obolibrary.org/obo/DOID_2936	obsolete Parvoviridae infectious disease				A ssDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Parvoviridae viruses.
http://purl.obolibrary.org/obo/DOID_2937	obsolete Human herpesvirus 8 infectious disease				A Herpesviridae infectious disease that results_in infection, has_material_basis_in Human herpesvirus 8.
http://purl.obolibrary.org/obo/DOID_2939	obsolete Herpesviridae infectious disease				A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Herpesviridae viruses.
http://purl.obolibrary.org/obo/DOID_2943	obsolete Poxviridae infectious disease				A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Poxviridae viruses.
http://purl.obolibrary.org/obo/DOID_2946	obsolete coronavirus infectious disease				A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in coronaviruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food.
http://purl.obolibrary.org/obo/DOID_2947	obsolete Yellow fever virus infectious disease				A Flavivirus infectious disease that results_in infection, has_material_basis_in Yellow fever virus, which is transmitted_by mosquito bites. The infection has_symptom fever, has_symptom severe headache, has_symptom back pain, has_symptom muscle ache, has_symptom nausea, and has_symptom weakness.
http://purl.obolibrary.org/obo/DOID_2948	obsolete Coronaviridae infectious disease				A Nidovirales infectious disease that results_in infection in animals and humans, has_material_basis_in Coronaviridae viruses, which is transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food.
http://purl.obolibrary.org/obo/DOID_2949	obsolete Nidovirales infectious disease				A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Nidovirales viruses.
http://purl.obolibrary.org/obo/DOID_2950	obsolete Orbivirus infectious disease				A Reoviridae infectious disease that results_in infection in vertebrates, has_material_basis_in Orbivirus, which is transmitted_by mosquitoes, transmitted_by midges, transmitted_by gnats, transmitted_by sandflies, and transmitted_by ticks.
http://purl.obolibrary.org/obo/DOID_2961	obsolete DNA repair deficiency				A monogenic disease that results from a reduced functionality of DNA repair.
http://purl.obolibrary.org/obo/DOID_3	obsolete disease by environmental exposure				A disease that has an etiology of chemical exposure or exposure to other environmental factors excluding infectious agents.
http://purl.obolibrary.org/obo/DOID_3056	obsolete Paramyxoviridae infectious disease				A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Paramyxoviridae viruses.
http://purl.obolibrary.org/obo/DOID_3106	obsolete Nematoda infectious disease				A parasitic helminthiasis infectious disease that involves infection by parasitic roundworms including ascarids, filarids, hookworms, pinworms, and whipworms.
http://purl.obolibrary.org/obo/DOID_3163	obsolete spindle cell cancer				A sarcoma that is located_in the skin or located_in tissues that line or cover internal organs and that contains long spindle-shaped cells.
http://purl.obolibrary.org/obo/DOID_3215	obsolete infectious bovine rhinotracheitis				A Varicellovirus infectious disease that results_in infection in cattle, located_in upper respiratory tract, and located_in genital tract, has_material_basis_in Bovine herpesvirus 1, has_symptom nasal discharge, has_symptom fever, has_symptom abortion, and has_symptom conjunctivitis.
http://purl.obolibrary.org/obo/DOID_323	obsolete Human T-lymphotropic virus 1 infectious disease				A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder.
http://purl.obolibrary.org/obo/DOID_3293	obsolete lumpy skin disease				A viral infectious disease that results_in infection located_in skin and located_in mucous membrane of cattle, has_material_basis_in Lumpy skin disease virus, which results_in_formation_of nodules on the skin particularly on the head, neck, udder, genitalia, perineum and legs, has_symptom fever, and has_symptom lymphadenopathy.
http://purl.obolibrary.org/obo/DOID_3295	obsolete fowlpox				A viral infectious disease results_in infection located_in skin, or located_in mucous membranes of the mouth, oesophagus, larynx or trachea of birds, has_material_basis_in Fowlpox virus, has_symptom lesions on the skin, has_symptom diphtheritic lesions in the upper parts of the digestive and respiratory tracts.
http://purl.obolibrary.org/obo/DOID_3296	obsolete infectious ectromelia				A viral infectious disease that results_in infection located in skin of mice, has_material_basis_in Ectromelia virus. The infection has_symptom swelling of the feet, has_symptom gangrene, and has_symptom lesions on the skin.
http://purl.obolibrary.org/obo/DOID_3297	obsolete infectious myxomatosis				A viral infectious disease that results_in infection located_in eyes or located_in upper respiratory tract of domestic rabbits, has_material_basis_in Myxoma virus, which is transmitted_by mosquitos, transmitted_by biting flies or transmitted_by direct contact. The infection has_symptom conjunctivitis with a milky discharge from the inflamed eye and has_symptom breathing difficulties.
http://purl.obolibrary.org/obo/DOID_3412	obsolete infectious canine hepatitis				A viral infectious disease that involves necrosis of the liver caused by Canine adenovirus 1 in dogs, wolves, coyotes and bears. The symptoms include fever, leukopenia, apathy, anorexia, conjunctivitis, serous discharge from the eyes and nose, petechiae of the oral mucosa, subcutaneous edema of the head, neck and trunk, hematomas in the mouth, jaundice, and hepatic encephalopathy.
http://purl.obolibrary.org/obo/DOID_344	obsolete disease of biological process				A disease that involves any biological process (GO:0008150) specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms.
http://purl.obolibrary.org/obo/DOID_3485	obsolete Oxyurida infectious disease				A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Oxyurida.
http://purl.obolibrary.org/obo/DOID_3521	obsolete childhood soft tissue sarcoma				A sarcoma that affects children and is located_in the soft tissues of the body.
http://purl.obolibrary.org/obo/DOID_3532	obsolete peste des petits ruminants infectious disease				A viral infectious disease that results_in infection in ruminants, has_material_basis_in Peste-des-petits-ruminants virus, which is transmitted_by contact with oronasal and ocular secretions, urine, and feces. The infection results_in_formation_of lesions on the gums, lips and palate.
http://purl.obolibrary.org/obo/DOID_3533	obsolete Morbillivirus infectious disease				A Paramyxoviridae infectious disease that results_in infection in dogs, seals, cattle and humans, has_material_basis_in Morbillivirus.
http://purl.obolibrary.org/obo/DOID_3568	obsolete viral hemorrhagic septicemia				A viral infectious disease that results_in infection in fish, has_material_basis_in Viral hemorrhagic septicemia virus, which is transmitted_by contact with the contaminated water, or transmitted_by direct contact. The infection has_symptom hemorrhages in the internal organs, skin, and muscle, has_symptom bulging eyes, and has_symptom bloated abdomens.
http://purl.obolibrary.org/obo/DOID_3667	obsolete Cardiovirus infectious disease				A Picornaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Cardiovirus.
http://purl.obolibrary.org/obo/DOID_3668	obsolete Picornaviridae infectious disease				A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Picornaviridae viruses.
http://purl.obolibrary.org/obo/DOID_3715	obsolete non-suppurative otitis media and eustachian tube disorder				A non-suppurative otitis media which involves obstruction of the collecting lymphatic tubules of the middle ear and eustachian tube as they drain to the retropharyngeal lymphatics. Retraction of the tympanic membrane is also observed.
http://purl.obolibrary.org/obo/DOID_3718	obsolete Arterivirus infectious disease				A Arteriviridae infectious disease that results_in infection in animals, has_material_basis_in Arterivirus.
http://purl.obolibrary.org/obo/DOID_3729	obsolete Respirovirus infectious disease				A Paramyxoviridae infectious disease that results_in infection, has_material_basis_in Respirovirus, which is transmitted_by contact with the respiratory secretions of an infected person.
http://purl.obolibrary.org/obo/DOID_3730	obsolete pneumonic pasteurellosis				A Pasteurella infectious disease that involves infection by the bacterium Mannheimia haemolytica and less frequently by Pasteurella multocida and Histophilus somni. After stress or viral infection, the replication rate of M. haemolytica in the upper respiratory tract increases rapidly, followed by inhalation and colonization of the lungs due to suppression of the host's defense mechanism. The bacterium produces exotoxin called leukotxin which interacts with the host's defense mechanism resulting in tissue damage with charactersistic necrosis, thrombosis, and exudation and the development of pneumonia.
http://purl.obolibrary.org/obo/DOID_3732	obsolete bovine respiratory disease complex				A pneumonia which has a multifactorial etiology and develops as a result of complex interactions between environmental factors, host factors, and pathogens leading to pulmonary lesions caused by various micro organisms ( essentially viruses and bacteria). Environmental factors (eg, weaning, transport, commingling, crowding, and inadequate ventilation) serve as stressors that adversely affect the immune and nonimmune defense mechanisms of the host. In addition, certain environmental factors (eg, crowding and inadequate ventilation) can enhance the transmission of infectious agents among animals.
http://purl.obolibrary.org/obo/DOID_3739	obsolete human papillomavirus related squamous cell carcinoma				A human papillomavirus related carcinoma that results_in infection, has_material_basis_in human papillomavirus (types 16, or 18), which cause malignant tumors in squamous epithelium in genital and periungual areas.
http://purl.obolibrary.org/obo/DOID_3799	obsolete feline panleukopenia				A viral infectious disease that results_in ulceration located_in intestinal epithelium of cats, which has_material_basis_in Feline panleukopenia virus, transmitted_by contact with an infected cat's bodily fluids, feces, or fleas. The infection has_symptom bloody diarrhea, has_symptom dehydration, has_symptom anemia, and has_symptom vomiting.
http://purl.obolibrary.org/obo/DOID_3800	obsolete avian leukosis				A viral infectious disease that results_in infection in birds, has_material_basis_in Avian leukosis virus, which causes wide range of tumors.
http://purl.obolibrary.org/obo/DOID_3902	obsolete pseudorabies				A Varicellovirus infectious disease that results_in infection located_in peripheral nervous system in swine, cattle, sheep, dogs and raccoons, has_material_basis_in Suid herpesvirus 1 and has_symptom abortion, has_symptom coughing, has_symptom sneezing, has_symptom fever, has_symptom constipation, has_symptom depression, has_symptom seizures, has_symptom ataxia, has_symptom circling, has_symptom excess salivation in piglets, and has_symptom intense itching in cattle.
http://purl.obolibrary.org/obo/DOID_3984	obsolete Strongylus equinus infectious disease				A parasitic helminthiasis infectious disease that involves infection of the intestine in horses by the nematode Strongylus equinus.
http://purl.obolibrary.org/obo/DOID_4036	obsolete Helicobacter pylori gastritis				A commensal Helicobacter infectious disease that involves inflammation of the stomach lining caused by Helicobacter pylori, which contributes to ulcer formation by increasing acid production, interfering with the normal defenses against stomach acid, and producing toxins. The symptoms include indigestion and pain or discomfort in the upper abdomen.
http://purl.obolibrary.org/obo/DOID_4086	obsolete testicular germ cell tumor non-seminomatous				A testicular germ cell cancer characterized by the absence of a seminomatous component.
http://purl.obolibrary.org/obo/DOID_4088	obsolete Torovirus infectious disease				A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Torovirus, which is transmitted_by ingestion of food contaminated with feces.
http://purl.obolibrary.org/obo/DOID_4091	obsolete Caliciviridae infectious disease				A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Caliciviridae viruses.
http://purl.obolibrary.org/obo/DOID_4092	obsolete vesicular exanthema of swine				A viral infectious disease that results_in_formation_of vesicles located_in epithelium of the snout, lips, nostrils, tongue, feet and mammary glands of swine, has_material_basis_in Vesicular exanthema of swine virus, which is transmitted_by direct contact.
http://purl.obolibrary.org/obo/DOID_4104	obsolete rinderpest				A viral infectious disease that results_in infection in cattle, has_material_basis_in Rinderpest virus, which is transmitted_by direct contact with an infected animal, or transmitted_by ingestion of contaminated water. The infection has_symptom fever, has_symptom nasal and eye discharge, and results_in_formation_of erosions in the mouth, the lining of the nose and the genital tract.
http://purl.obolibrary.org/obo/DOID_4105	obsolete canine distemper				A viral infectious disease that results_in infection located_in respiratory system, located_in gastrointestinal system, and located_in nervous system of dogs, foxes, wolves, coyotes, raccoons, skunks, and ferrets, has_material_basis_in Canine distemper virus, which is transmitted_by droplet spread of respiratory secretions from an infected animal. The infection has_symptom fever, has_symptom nasal discharge, has_symptom coughing, has_symptom vomiting, has_symptom diarrhea, has_symptom seizures, and has_symptom twitching.
http://purl.obolibrary.org/obo/DOID_4121	obsolete West Nile virus infectious disease				A Flavivirus infectious disease that results_in infection in animals and humans, has_material_basis_in West Nile virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom nausea, has_symptom vomiting, has_symptom swollen lymph glands, or has_symptom skin rash on the chest, stomach and back.
http://purl.obolibrary.org/obo/DOID_413	obsolete avian tuberculosis				A tuberculosis that is a chronic and progressive wasting and weakness caused by infection of companion, captive exotic, wild and domestic birds with Mycobacterium avium complex (serotypes 1, 2 and 3) and M. genavense.
http://purl.obolibrary.org/obo/DOID_4224	obsolete adult soft tissue sarcoma				A sarcoma that affects adults and is located_in the muscle, located_in fat, located_in fibrous tissue, located_in blood vessels, or located_in other supporting tissue of the body.
http://purl.obolibrary.org/obo/DOID_4273	obsolete bovine hemorrhagic syndrome				A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine viral diarrhea virus 2, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom low grade fever, has_symptom bloody diarrhea, and has_symptom bleeding in the eyes.
http://purl.obolibrary.org/obo/DOID_4274	obsolete Pestivirus infectious disease				A viral infectious disease that results_in infection in mammals, has_material_basis_in Pestivirus, which is transmitted_by contact with nasal secretions of an infected animal. The infection has_symptom diarrhea, has_symptom respiratory problems, and has_symptom bleeding disorder.
http://purl.obolibrary.org/obo/DOID_4318	obsolete visna				A viral infectious disease that results_in infection located_in brain in sheep and goats, has_material_basis_in Visna/Maedi virus, which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated water, milk or colostrum. The infection has_symptom hindlimb weakness, has_symptom head tilt, has_symptom ataxia, has_symptom incoordination, has_symptom muscle tremors, has_symptom paresis, and has_symptom paraplegia.
http://purl.obolibrary.org/obo/DOID_4326	obsolete Filoviridae infectious disease				A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Filoviridae viruses.
http://purl.obolibrary.org/obo/DOID_4393	obsolete Henipavirus infectious disease				A Paramyxoviridae infectious disease that results_in infection in domestic animals and humans, has_material_basis_in Henipavirus, which is transmitted_by direct contact with the urine, feces, and nasal secretions of an infected animal.
http://purl.obolibrary.org/obo/DOID_4412	obsolete Astroviridae infectious disease				A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Astroviridae viruses.
http://purl.obolibrary.org/obo/DOID_4493	obsolete Orthomyxoviridae infectious disease				A (-)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Orthomyxoviridae family viruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by contaminated fomites.
http://purl.obolibrary.org/obo/DOID_457	obsolete Ascaridida infectious disease				A Chromadorea infectious disease that involves infection of humans and domestic animals by parasitic roundworms with three lips on the anteriour end.
http://purl.obolibrary.org/obo/DOID_4616	obsolete bovine atypical interstitial pneumonia				A bovine respiratory disease complex defined as an acute, noncontagious respiratory distress caused 5-10days after change to a better, often lush, pasture. Metabolites of the naturally occurring amino acid L-tryptophan probably are responsible for the disease. Severely affected cattle show extensive respiratory distress with mouth breathing, extension of the tongue, and drooling. There is extensive edema and emphysema, often with the formation of large air-filled bullae in interlobular and subpleural regions of the lung.
http://purl.obolibrary.org/obo/DOID_462	obsolete cancer by anatomical entity				A cancer that affects an anatomical entity.
http://purl.obolibrary.org/obo/DOID_4629	obsolete porcine reproductive and respiratory syndrome				A viral infectious disease that results_in infection causing reproductive failure of sows and respiratory problems of piglets and growing pigs, has_material_basis_in Porcine reproductive and respiratory syndrome virus, which is transmitted_by contact with feces, urine and semen of infected pigs, and transmitted_by fomites. The infection has_symptom stillborn piglets, has_symptom mummified fetuses, has_symptom premature farrowings, has_symptom weak-born pigs, and has_symptom pneumonia.
http://purl.obolibrary.org/obo/DOID_4754	obsolete Dictyocaulus infectious disease				A trichostrongyloidiasis that involves parasitic infection of the bronchial tree of horses, sheep, goats, deer, and cattle by nematodes of the genus Dictyocaulus.
http://purl.obolibrary.org/obo/DOID_4760	obsolete malignant catarrh				A viral infectious disease that results_in infection in cattle and other ruminants, has_material_basis_in Macavirus and has_symptom fever, has_symptom bilateral corneal opacity, and has_symptom oculonasal discharge.
http://purl.obolibrary.org/obo/DOID_4772	obsolete mesoblastic nephroma				A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life.
http://purl.obolibrary.org/obo/DOID_4775	obsolete feline acquired immunodeficiency syndrome				A viral infectious disease that results_in infection in domesticated housecats, has_material_basis_in Feline immunodeficiency virus, which is transmitted_by contact with the infected cat's saliva during deep bite wounds, and transmitted_by congenital method. The virus attacks the immune system infecting CD4+ and CD8+ T lymphocytes, B lymphocytes, and macrophages. Some of the symptoms are loss of weight, malaise, pyrexia, anemia, gastroenteritis, gingivitis, stomatitis, diarrhea, infections of the skin, eyes, urinary tract, respiratory tract, and diseases of the nervous system.
http://purl.obolibrary.org/obo/DOID_4804	obsolete border disease				A viral infectious disease that results_in infection in sheep and goats, has_material_basis_in Border disease virus, which is transmitted_by congenital method. The infection has_symptom abortion, has_symptom stillbirth, has_symptom hairy fleece in lambs, and has_symptom abnormal body conformation.
http://purl.obolibrary.org/obo/DOID_4807	obsolete swine vesicular disease				An Enterovirus infectious disease that results_in infection, has_material_basis_in Swine vesicular disease virus, which is transmitted_by ingestion of contaminated food, or transmitted_by contact with an infected animal. The infection results_in_formation_of vesicles in the mouth, snout and feet, and has_symptom lameness.
http://purl.obolibrary.org/obo/DOID_4808	obsolete Enterovirus infectious disease				A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Enterovirus, which is transmitted_by direct contact with secretions from an infected person, transmitted_by fomites, transmitted_by droplet spread of oronasal secretions from an infected person, or transmitted_by ingestion of contaminated food.
http://purl.obolibrary.org/obo/DOID_4809	obsolete enzootic porcine encephalomyelitis				A viral infectious disease that results_in inflammation located_in brain and located_in spinal cord of pigs, has_material_basis_in Porcine teschovirus, which is transmitted_by ingestion of contaminated food, and transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom anorexia, has_symptom depression, has_symptom incoordination, has_symptom paralysis, has_symptom muscle tremors, has_symptom stiffness, has_symptom nystagmus, has_symptom seizures, and has_symptom loss of the voice.
http://purl.obolibrary.org/obo/DOID_4864	obsolete Rubella virus infectious disease				A viral infectious disease that results_in infection, has_material_basis_in Rubella virus, which is transmitted_by direct contact with the infected person through coughing and sneezing, and transmitted_by congenital method.
http://purl.obolibrary.org/obo/DOID_4865	obsolete Togaviridae infectious disease				A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Togaviridae viruses.
http://purl.obolibrary.org/obo/DOID_4887	obsolete Rotavirus infectious disease				A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain.
http://purl.obolibrary.org/obo/DOID_4924	obsolete human papillomavirus related adenocarcinoma				A human papillomavirus related carcinoma that results_in infection, has_material_basis_in human papillomaviruses (types 16, 18, 31, 39 or 45), which cause lesions that progress to cancers.
http://purl.obolibrary.org/obo/DOID_4925	obsolete human papillomavirus related carcinoma				A papillomavirus infectious disease that results_in infection, has_material_basis_in human papillomavirus (types 16, 18, 31, 32 or 33), which cause intraepithelial lesions that may progress to carcinomas.
http://purl.obolibrary.org/obo/DOID_4958	obsolete central nervous system hemangiopericytoma				A hemangiopericytoma which is manifested in the central nervous system.
http://purl.obolibrary.org/obo/DOID_5002	obsolete equine infectious anemia				A viral infectious disease that results_in breakdown of red blood cells in horses, has_material_basis_in Equine infectious anemia virus, which is transmitted_by horse fly bite, transmitted_by deer fly bite, transmitted_by contact with saliva, milk, and body secretions, and transmitted_by contaminated needles and surgical equipment. The infection has_symptom anemia, has_symptom weakness, has_symptom swelling of the lower abdomen and legs, has_symptom weak pulse, and has_symptom irregular heartbeat.
http://purl.obolibrary.org/obo/DOID_5029	obsolete Alphavirus infectious disease				A Togaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Alphavirus, which is transmitted_by mosquito bite.
http://purl.obolibrary.org/obo/DOID_5085	obsolete transmissible gastroenteritis of swine				A viral infectious disease that results_in inflammation located_in stomach and located_in intestine in pigs, has_material_basis_in Transmissible gastroenteritis virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom vomiting, has_symptom watery yellow diarrhea, has_symptom weight loss, and has_symptom dehydration.
http://purl.obolibrary.org/obo/DOID_5086	obsolete transmissible enteritis of turkeys				A viral infectious disease that results_in inflammation located_in intestine of turkeys, has_material_basis_in Turkey coronavirus, which is transmitted_by ingestion of food contaminated with feces, or transmitted_by fomites contaminated with feces. The infection has_symptom diarrhea, has_symptom anorexia, has_symptom decreased weight, and has_symptom depression.
http://purl.obolibrary.org/obo/DOID_5087	obsolete feline infectious peritonitis				A viral infectious disease that results_in infection in cats, located_in peritoneum, has_material_basis_in Feline infectious peritonitis virus, which is transmitted_by contact with the infected cat, and transmitted_by congenital method. The infection has_symptom sneezing, has_symptom watery eyes, has_symptom nasal discharge, and has_symptom accumulation of fluid in the abdomen.
http://purl.obolibrary.org/obo/DOID_5115	obsolete bovine virus diarrhea-mucosal disease				A viral infectious disease that results_in infection in cattle, located_in intestine, has_material_basis_in Bovine viral diarrhea virus 1, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom lesions in the mucosa of digestive tract, has_symptom necrosis of lymphoid tissue, has_symptom hoof inflammation and dermatitis, and has_symptom diarrhea.
http://purl.obolibrary.org/obo/DOID_5120	obsolete Roseolovirus infectious disease				A Herpesviridae infectious disease that results_in infection in children, has_material_basis_in Human herpesvirus 6 and has_material_basis_in Human herpesvirus 7.
http://purl.obolibrary.org/obo/DOID_5184	obsolete recurrent nephroblastoma				A nephroblastoma that recurs over time.
http://purl.obolibrary.org/obo/DOID_5185	obsolete anaplastic renal Wilms' tumor				A nephroblastoma that results_in an unfavorable appearance under the microscope. They are characterized by a cell nuclei that tends to be very large and distorted.
http://purl.obolibrary.org/obo/DOID_5209	obsolete benign struma ovarii				An ovarian benign neoplasm struma ovarii that is not cancerous and that is composed either exclusively or predominantly of thyroid tissue.
http://purl.obolibrary.org/obo/DOID_5215	obsolete ephemeral fever				A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine ephemeral fever virus, which is transmitted_by Culex, transmitted_by Anopheles, and transmitted_by Culicoides arthropods. The infection has_symptom fever, has_symptom stiffness, has_symptom lameness, has_symptom nasal discharge, has_symptom ocular discharge, has_symptom depression, has_symptom cessation of rumination, and has_symptom constipation.
http://purl.obolibrary.org/obo/DOID_524	obsolete central nervous system AIDS arteritis				A Human immunodeficiency virus infectious disease that results_in inflammation located_in wall of artery of the central nervous system, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2.
http://purl.obolibrary.org/obo/DOID_5314	obsolete alveolar soft part sarcoma recurrent				An alveolar soft part sarcoma that recurs over time.
http://purl.obolibrary.org/obo/DOID_5316	obsolete alveolar soft part sarcoma nonmetastatic				An alveolar soft part sarcoma that has not spread to other parts of the body.
http://purl.obolibrary.org/obo/DOID_5317	obsolete alveolar soft part sarcoma metastatic				An alveolar soft part sarcoma that has spread to other parts of the body.
http://purl.obolibrary.org/obo/DOID_5369	obsolete ovine progressive interstitial pneumonia				A viral infectious disease that results_in inflammation located_in lungs, has_material_basis_in Ovine progressive pneumonia virus, which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated milk or colostrum. The infection has_symptom coughing, has_symptom bronchial exudate, has_symptom depression, and has_symptom fever.
http://purl.obolibrary.org/obo/DOID_5399	obsolete ovine pulmonary adenomatosis				A viral infectious disease that results_in bronchioloalveolar carcinoma in ovine, located_in lung, has_material_basis_in Jaagsiekte sheep retrovirus, characterized by proliferation of the pulmonary alveolar epithelium and occlusion of the alveoli and terminal bronchioles, presenting as a collection of benign growths of grandular origin.
http://purl.obolibrary.org/obo/DOID_5460	obsolete contagious pleuropneumonia				A mycoplasmal pneumonia that is a highly contagious infection usually associated with pleurisy of cattle, goats, and sheep, which is caused by bacteria of the genus Mycoplasma (especially M. mycoides).
http://purl.obolibrary.org/obo/DOID_5462	obsolete African swine fever				A viral infectious disease that results_in infection in pigs, has_material_basis_in African swine fever virus, which is transmitted_by contact with sick animals or transmitted_by ingestion of contaminated food containing infected meat, or transmitted_by ticks of the genus Ornithodoros. The infection has_symptom fever, has_symptom reddening of the skin, has_symptom leukopenia, and has_symptom thrombocytopenia.
http://purl.obolibrary.org/obo/DOID_5489	obsolete adult synovial sarcoma				An adult sarcoma of soft tissue and synovial sarcoma that affects non-epithelial, extraskeletal tissue of the body, including the muscle, fat, fibrous tissue, vessels and peripheral nervous system.
http://purl.obolibrary.org/obo/DOID_5497	obsolete Hepadnaviridae infectious disease				A dsDNA-RT virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepadnaviridae viruses.
http://purl.obolibrary.org/obo/DOID_5532	obsolete ovarian squamous cell neoplasm				An ovary epithelial cancer that has_material_basis_in squamous cells.
http://purl.obolibrary.org/obo/DOID_5573	obsolete classical swine fever				A viral infectious disease that results_in infection in swine, has_material_basis_in Classical swine fever virus, which is transmitted_by direct contact with oronasal secretions of the infected pig, transmitted_by ingestion of contaminated food, and transmitted_by fomites. The infection has_symptom high fever, has_symptom huddling, has_symptom weakness, has_symptom drowsiness, has_symptom anorexia, has_symptom conjunctivitis, has_symptom diarrhea, and has_symptom hemorrhages in the skin.
http://purl.obolibrary.org/obo/DOID_5651	obsolete anaplastic carcinoma				A carcinoma that results from uncontrolled proliferation of transformed cells of epithelial origin, which has no epithelial structural differentiation.
http://purl.obolibrary.org/obo/DOID_5659	obsolete invasive carcinoma				A carcinoma that results_in a lesion that breaks through the boundary located_in the duct or located_in the lobule.
http://purl.obolibrary.org/obo/DOID_587	obsolete tuberculous lung cavity				A pulmonary tuberculosis characterized by tubercles formation which coalesce into consolidated areas. Caseation and softening of these areas, with involvement of the interstitial tissue, lead to the formation of a cavity. The symptoms include fever, increased cough and sputum.
http://purl.obolibrary.org/obo/DOID_5979	obsolete human papilloma virus related vulvar squamous cell carcinoma				A human papillomavirus related squamous cell carcinoma that results_in infection located_in vulva, has_material_basis_in human papillomavirus (type16 and 18), which cause malignant tumors in squamous epithelium of the vulva.
http://purl.obolibrary.org/obo/DOID_6045	obsolete AIDS retinopathy				A Human immunodeficiency virus infectious disease that results_in microvascular changes located_in retina, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cotton-wool spots, has_symptom retinal hemorrhages, and has_symptom microaneurysms.
http://purl.obolibrary.org/obo/DOID_6122	obsolete AIDS-related anal cancer				An anal carcinoma that represents a group of cancers that are frequently diagnosed in people with HIV/AIDS.
http://purl.obolibrary.org/obo/DOID_616	obsolete Deltaretrovirus infectious disease				A Retroviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Deltaretrovirus, which is transmitted_by congenital method, and transmitted_by sexual contact.
http://purl.obolibrary.org/obo/DOID_617	obsolete Retroviridae infectious disease				A ssRNA-RT virus infectious disease that results_in infection in animals and humans, has_material_basis_in Retroviridae viruses.
http://purl.obolibrary.org/obo/DOID_6180	obsolete Cytomegalovirus gastritis				A Cytomegalovirus infectious disease that results_in inflammation located_in stomach lining, has_material_basis_in Human herpesvirus 5, has_symptom dyspepsia, and has_symptom nausea and vomiting.
http://purl.obolibrary.org/obo/DOID_621	obsolete simian acquired immunodeficiency syndrome				A viral infectious disease that results_in infection in primates and monkeys, has_material_basis_in Simian immunodeficiency virus, which is transmitted_by sexual contact, and transmitted_by ingestion of virus-infected milk. The infection The virus attacks the immune system leading to severe depletion of CD4+ T cells.
http://purl.obolibrary.org/obo/DOID_622	obsolete Lentivirus infectious disease				A Retroviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Lentivirus, which is transmitted_by sexual contact, transmitted_by breast feeding, and transmitted_by contact of infected blood with any open wound.
http://purl.obolibrary.org/obo/DOID_6250	obsolete Epstein-Barr virus related carcinoma				An Epstein-Barr virus infectious disease and is_a carcinoma that derives_from epithelial cells, has_material_basis_in Human herpesvirus 4, which causes a growth activation of the epithelial cells that it infects.
http://purl.obolibrary.org/obo/DOID_6296	obsolete Herpes simplex virus esophagitis				A Simplexvirus infectious disease that results_in inflammation located_in esophagus, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom difficulty swallowing, has_symptom fever, has_symptom herpetic lesions and has_symptom painful swallowing.
http://purl.obolibrary.org/obo/DOID_647	obsolete Polyomavirus infectious disease				A Polyomaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomavirus, which cause respiratory symptoms, cystitis or skin cancer.
http://purl.obolibrary.org/obo/DOID_6495	obsolete adult myxoid chondrosarcoma				An adult sarcoma of soft tissue and myxoid chondrosarcoma that is composed_of multiple lobules of chondroblast-like cells, arranged in cords and strands, embedded in a myxoid stroma, and separated by fibrous septa.
http://purl.obolibrary.org/obo/DOID_6496	obsolete extraskeletal myxoid chondrosarcoma				An extraosseous chondrosarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage and is characterized by a marked abundance of extracellular mucoid (myxoid) matrix.
http://purl.obolibrary.org/obo/DOID_6801	obsolete recurrent hematologic cancer				A hematoloic cancer that is located_in the blood or bone marrow that has come back in a patient.
http://purl.obolibrary.org/obo/DOID_6803	obsolete recurrent adult acute lymphocytic leukemia				A recurrent hematologic cancer that is located_in bone marrow and is characterized by the production of too many lymphocytes.
http://purl.obolibrary.org/obo/DOID_6809	obsolete vaginal tubular adenoma				A vaginal adenoma that resembles the colorectal tubular adenoma.
http://purl.obolibrary.org/obo/DOID_6849	obsolete testicular intratubular germ cell neoplasia of the unclassified type				A stage 0 cancer of the testis consisting of the uniform precursor of testicular germ cell tumors (GCTs). ITGCNU can be found in testicular tissue adjacent to GCTs in approximately 90 percent of adult cases and is found in all groups at risk for testicular cancer, including men with cryptorchid testes, prior testicular cancer, and individuals with abnormal sexual differentiation.
http://purl.obolibrary.org/obo/DOID_6895	obsolete AIDS-related Kaposi's sarcoma				A Kaposi's sarcoma and AIDS-related malignancy that results_in the occurence of Kaposi's sarcoma in people that have progressed to AIDS.
http://purl.obolibrary.org/obo/DOID_6899	obsolete malignant ovarian mixed epithelial neoplasm				A mixed epithelial tumor of ovary that is cancerous.
http://purl.obolibrary.org/obo/DOID_6905	obsolete AIDS-related herpes zoster				A herpes zoster that is complicated_by AIDS.
http://purl.obolibrary.org/obo/DOID_6954	obsolete Epstein-Barr virus related lymphoma				An Epstein-Barr virus infectious disease and is_a lymphoma that derives_from lymphocytes, has_material_basis_in Human herpesvirus 4, which causes a growth activation of the lymphocytes that it infects.
http://purl.obolibrary.org/obo/DOID_7061	obsolete precursor B lymphoblastic lymphoma/leukemia				A precursor lymphoblastic lymphoma/leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow.
http://purl.obolibrary.org/obo/DOID_716	obsolete Human T-lymphotropic virus 2 infectious disease				A viral infectious disease that affects CD8 lymphocytes, has_material_basis_in Human T-lymphotropic virus 2, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-2 develop neurologic diseases resembling tropical spastic paraparesis.
http://purl.obolibrary.org/obo/DOID_7238	obsolete AIDS-related gastric Kaposi's sarcoma				An AIDS-related Kaposi's sarcoma and gastric Kaposi's sarcoma that is located_in the stomach.
http://purl.obolibrary.org/obo/DOID_7498	obsolete AIDS-related Human papillomavirus infectious disease				A papillomavirus infectious disease and complicated_by acquired immunodeficiency syndrome that results_in infection, has_material_basis_in human papillomavirus, in patients with AIDS.
http://purl.obolibrary.org/obo/DOID_7555	obsolete HIV leukoencephalopathy				A HIV encephalopathy that results_in inflammation located_in white matter of neuraxis, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom weakness, has_symptom paralysis, has_symptom vision loss, has_symptom impaired speech, and has_symptom cognitive deterioration.
http://purl.obolibrary.org/obo/DOID_7702	obsolete AIDS-related oropharyngeal candidiasis				An oropharyngeal candidiasis that involves fungal infection of the oropharynx by Candida species in AIDS patients.
http://purl.obolibrary.org/obo/DOID_7704	obsolete human papilloma virus related endocervical adenocarcinoma				A human papillomavirus related adenocarcinoma that results_in infection, located_in endocervix, has_material_basis_in human papillomaviruses (types 16, 18, 31, 39 or 45), which cause lesions that progress to cancers.
http://purl.obolibrary.org/obo/DOID_7706	obsolete Cytomegalovirus esophagitis				A Cytomegalovirus infectious disease that results_in infection located_in esophagus, has_material_basis_in Human herpesvirus 5 and has_symptom odynophagia, has_symptom nausea and vomiting, has_symptom fever, has_symptom diarrhea, and has_symptom hemoptysis.
http://purl.obolibrary.org/obo/DOID_7712	obsolete recurrent adult soft tissue sarcoma				An adult sarcoma of soft tissue that derives_form the soft tissues of the body.
http://purl.obolibrary.org/obo/DOID_7739	obsolete human papilloma virus related penile squamous cell carcinoma				A human papillomavirus related squamous cell carcinoma that results_in infection located_in penis, has_material_basis_in human papillomavirus (types 16 and 18), which cause malignant tumors in squamous epithelium of the penis.
http://purl.obolibrary.org/obo/DOID_7793	obsolete recurrent uterine sarcoma				A uterine Corpus sarcoma that has recurred after it has been treated.
http://purl.obolibrary.org/obo/DOID_7810	obsolete AIDS-related Cytomegalovirus enterocolitis				An intestinal infectious disease and is_a Cytomegalovirus infectious disease that is complicated_by acquired immunodeficiency syndrome which results_in inflammation located_in colon and located_in small intestine, has_material_basis_in Cytomegalovirus in AIDS patients.
http://purl.obolibrary.org/obo/DOID_7812	obsolete Enterovirus gastroenteritis				An Enterovirus infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human echovirus 11, which is transmitted_by contaminated drinking water. The infection has_symptom diarrhea.
http://purl.obolibrary.org/obo/DOID_7814	obsolete Cytomegalovirus colitis				A Cytomegalovirus infectious disease that results_in infection, located_in colon, has_material_basis_in Human herpesvirus 5, which results_in_formation_of ulcer, has_symptom watery or bloody diarrhea, has_symptom abdominal pain, has_symptom fever, and has_symptom weight loss.
http://purl.obolibrary.org/obo/DOID_7833	obsolete cervical papillary squamous cell carcinoma				A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause papillae in squamous epithelium of cervix.
http://purl.obolibrary.org/obo/DOID_7834	obsolete human papilloma virus related cervical squamous cell carcinoma				A human papillomavirus related squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of cervix.
http://purl.obolibrary.org/obo/DOID_7956	obsolete EBV-related posttransplantation lymphoproliferative disease				An Epstein-Barr virus related lymphoma and is_a posttransplantation lymphoproliferative disorder that derives_from lymphocytes after organ transplant, has_material_basis_in Human herpesvirus 4.
http://purl.obolibrary.org/obo/DOID_8055	obsolete recurrent urethral cancer				A cancer of urethra that has recurred after it has been treated. The cancer may come back in the urethra or in other parts of the body.
http://purl.obolibrary.org/obo/DOID_8084	obsolete cervical squamotransitional carcinoma				A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause papillary tumors with a transitional differentiation.
http://purl.obolibrary.org/obo/DOID_8094	obsolete cervical condylomatous squamous cell carcinoma				A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause warty malignant tumors in squamous epithelium of cervix.
http://purl.obolibrary.org/obo/DOID_810	obsolete HIV-associated lipodystrophy syndrome				A lipodystrophy and is_a Human immunodeficiency virus infectious disease that is characterized by loss of subcutaneous fat, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. Anti-retroviral medications are also associated with the disease. The infection has_symptom fat loss in face, buttocks, arms, legs.
http://purl.obolibrary.org/obo/DOID_8160	obsolete adult desmoplastic small round cell tumor				A desmoplastic small round-cell tumor that primarily is located_in the abdomen.
http://purl.obolibrary.org/obo/DOID_8535	obsolete ophthalmic herpes zoster				A Varicellovirus infectious disease that results_in infection located_in eye, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection.
http://purl.obolibrary.org/obo/DOID_8625	obsolete postherpetic trigeminal neuralgia				A viral infectious disease that results_in pain located_in trigeminal nerve, has_material_basis_in Human herpesvirus 3, which reactivates after the initial infection. The infection has_symptom facial pain.
http://purl.obolibrary.org/obo/DOID_8662	obsolete carcinoma in situ of digestive organ				A carcinoma in situ that is characterized by the spread of cancer in the digestive organ and the lack of invasion of surrounding tissues.
http://purl.obolibrary.org/obo/DOID_8675	obsolete ymphosarcoma				A sarcoma that has_material_basis_in lymphatic tissue.
http://purl.obolibrary.org/obo/DOID_8703	obsolete penis herpetic infectious disease				A genital herpes that results_in infection located_in skin of penis, has_material_basis_in Human herpesvirus 1 and Human herpesvirus 2 and has_symptom lesions, and has_symptom swollen glands in the groin area.
http://purl.obolibrary.org/obo/DOID_8718	obsolete carcinoma in situ of respiratory system				A carcinoma in situ that is characterized by the spread of cancer in the respiratory system and the lack of invasion of surrounding tissues.
http://purl.obolibrary.org/obo/DOID_8752	obsolete tuberculous pneumonia				A pulmonary tuberculosis in which dissemination of the infection by Mycobacterium tuberculosis has occurred to parts of the same lung or the opposite lung through rupture of a caseous lymph node into a bronchus.
http://purl.obolibrary.org/obo/DOID_8762	obsolete Herpes simplex virus otitis externa				A Simplexvirus infectious disease that results_in inflammation located_in external ear, has_material_basis_in Human herpesvirus 1 or has-agent Human herpesvirus 2 and has_symptom vesicles in the ear canal.
http://purl.obolibrary.org/obo/DOID_8765	obsolete Herpes simplex virus septicemia				A Simplexvirus infectious disease that results in inflammatory response by the immune system of the body to Human herpesvirus 1 or Human herpesvirus 2 in the blood, urine, lungs, skin, or other tissues. The symptoms include fever, chills, rapid breathing, and rapid heart rate.
http://purl.obolibrary.org/obo/DOID_8785	obsolete postherpetic polyneuropathy				A Varicellovirus infectious disease that results_in pain located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after the primary infection, has_symptom severe pain, has_symptom sensitivity to light touch, has_symptom muscle weakness, has_symptom paralysis, and has_symptom itching.
http://purl.obolibrary.org/obo/DOID_8812	obsolete Measles virus otitis media				A Measles virus infectious disease that results_in inflammation located_in middle ear, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom pain in the ear.
http://purl.obolibrary.org/obo/DOID_8839	obsolete herpes zoster keratoconjunctivitis				An ophthalmic herpes zoster that results_in inflammation located_in cornea and located_in conjunctiva, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection and has_symptom red eye, has_symptom irritation, and has_symptom pain.
http://purl.obolibrary.org/obo/DOID_887	obsolete Trematoda infectious disease				A parasitic helminthiasis infectious disease that involves infection by parasitic worms known as flukes, which are carried to various organs through blood stream.
http://purl.obolibrary.org/obo/DOID_8876	obsolete herpetic vulvovaginitis				A genital herpes that results_in infection located_in vulva and located_in vagina, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2 and has_symptom fever, has_symptom lymphadenopathy, and has_symptom lesions.
http://purl.obolibrary.org/obo/DOID_8906	obsolete herpes zoster otitis externa				A Varicellovirus infectious disease that results_in inflammation located_in external ear canal, has_material_basis_in Human herpesvirus 3, has_symptom pain in the outer ear, and has_symptom ear discharge.
http://purl.obolibrary.org/obo/DOID_8915	obsolete herpes zoster meningitis				A Varicellovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human herpesvirus 3, which reactivates after the primary infection. The infection has_symptom fever, has_symptom headache, has_symptom cervical rigidity, has_symptom seizure, has_symptom ataxia, and has_symptom skin lesions.
http://purl.obolibrary.org/obo/DOID_8932	obsolete herpes zoster iridocyclitis				An ophthalmic herpes zoster that results_in inflammation located_in iris and located_in ciliary body, has_material_basis_in Human herpesvirus 3,which reactivates from the trigeminal ganglion after the primary infection and has_symptom photophobia, has_symptom redness, has_symptom lacrimation, and blurres vision.
http://purl.obolibrary.org/obo/DOID_8962	obsolete Measles virus keratoconjunctivitis				A Measles virus infectious disease that results_in inflammation located_in cornea and located_in conjunctiva, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom mucopurulent discharge from the eye, has_symptom pain in the eye, and has_symptom redness.
http://purl.obolibrary.org/obo/DOID_9051	obsolete Herpes simplex virus meningitis				A Simplexvirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom fever, and has_symptom meningism.
http://purl.obolibrary.org/obo/DOID_9059	obsolete Herpes simplex virus gingivostomatitis				A Simplexvirus infectious disease that results_in inflammation located_in mucosa of mouth, has_material_basis_in Human herpesvirus 1, and has_symptom cold sores, has_symptom bad breath, and has_symptom fever.
http://purl.obolibrary.org/obo/DOID_9114	obsolete Varicella-zoster virus pneumonia				A Varicellovirus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human herpesvirus 3, has_symptom rash, has_symptom tachypnea, has_symptom chest tightness, has_symptom cough, has_symptom dyspnea, has_symptom fever, has_symptom pleuretic chest pain, and has_symptom hemoptysis.
http://purl.obolibrary.org/obo/DOID_9115	obsolete Rubella virus arthritis				A Rubella virus infectious disease that results_in infection located_in joint, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom joint pains.
http://purl.obolibrary.org/obo/DOID_9141	obsolete Herpes simplex virus meningoencephalitis				A Simplexvirus infectious disease that results_in inflammation located_in brain and located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom lesions in the brain, and has_symptom cerebral hemorrhage.
http://purl.obolibrary.org/obo/DOID_9180	obsolete amebic colitis				An amebiasis that involves infection of the intestine with the protozoan parasite Entamoeba histolytica trophozoites resulting in intermittent nondysenteric diarrhea with abdominal pain, mucus, flatulence, and weight loss. Chronic infection manifests as tender, palpable masses or annular lesions (amebomas) in the cecum and ascending colon.
http://purl.obolibrary.org/obo/DOID_9195	obsolete Herpes simplex virus keratitis				A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness.
http://purl.obolibrary.org/obo/DOID_9214	obsolete Herpes simplex virus iridocyclitis				A Simplexvirus infectious disease that results_in inflammation located_in iris and located_in ciliary body of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom redness, has_symptom photophobia, has_symptom lacrimation, and has_symptom blurred vision.
http://purl.obolibrary.org/obo/DOID_9217	obsolete herpes zoster eyelid dermatitis				A Varicellovirus infectious disease that results_in infection located_in skin of eyelid, has_material_basis_in Human herpesvirus 3 and has_symptom rash after the reactivation of latent virus years after the primary infection.
http://purl.obolibrary.org/obo/DOID_9228	obsolete congenital rubella				A rubella that results_in infection has_material_basis_in Rubella virus, which is transmitted_by congenital method to the developing fetus of a pregnant woman who has contracted rubella during her first trimester.
http://purl.obolibrary.org/obo/DOID_933	obsolete Cestoda infectious disease				A parasitic helminthiasis infectious disease that involves infection by parasitic flatworms known as tapeworms living in the vertebrate digestive tract.
http://purl.obolibrary.org/obo/DOID_937	obsolete DNA virus infectious disease				A viral infectious disease that results_in infection, has_material_basis_in DNA viruses, which have DNA as their genetic material and replicate using a DNA-dependent DNA polymerase.
http://purl.obolibrary.org/obo/DOID_9370	obsolete exophthalmos				An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit.
http://purl.obolibrary.org/obo/DOID_9426	obsolete tuberculous bronchiectasis				A pulmonary tuberculosis characterized by bronchial compression and obstruction as a result of enlarged lymph nodes of the primary complex or by infiltration of the wall of the bronchi by caseous lymph nodes.
http://purl.obolibrary.org/obo/DOID_9535	obsolete Arenavirus hemorrhagic fever				A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus.
http://purl.obolibrary.org/obo/DOID_9585	obsolete equine encephalitis				An Alphavirus infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, has_material_basis_in Venezuelan equine encephalitis virus, or has_material_basis_in Western equine encephalomyelitis virus, which are transmitted_by moquito bite. The infection has_symptom fever, has_symptom headache, and has_symptom malaise.
http://purl.obolibrary.org/obo/DOID_9804	obsolete pneumococcal peritonitis				A pneumococcal infectious disease that involves inflammation of the peritoneum caused by streptococcal infection. The symptoms include diarrhea, fever, fasciitis and influenza-like syndrome.
http://purl.obolibrary.org/obo/DOID_993	obsolete Flavivirus infectious disease				A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Flavivirus, which causes encephalitis or hemorrhagic fever in humans and transmitted_by arthropod vectors or transmitted_by contact with infected animal carcasses.
http://purl.obolibrary.org/obo/DOID_0050007	obsolete cutaneous strongyloidiasis				A strongyloidiasis that involves parasitic infection by the filariform larvae of Strongyloides stercoralis, which penetrate the human skin causing urticarial rashes in the buttocks and waist areas.
http://purl.obolibrary.org/obo/DOID_0050009	obsolete intestinal strongyloidiasis				A strongyloidiasis that involves infection of intestine with Strongyloides stercoralis, which results in abdominal pain, diarrhea, ileus, massive gastrointestinal bleeding, severe malabsorption, and peritonitis.
http://purl.obolibrary.org/obo/DOID_0050010	obsolete Mansonella perstans infectious disease				A mansonelliasis that involves parasitic infection by the nematode Mansonella perstans, which resides in body cavities and the surrounding tissues causing angioedema, pruritus, fever, headaches, arthralgias, and neurologic manifestations. Midges transmit the disease.
http://purl.obolibrary.org/obo/DOID_0050011	obsolete Mansonella streptocerca infectious disease				A mansonelliasis that involves parasitic infection by the nematode Mansonella streptocerca, which resides in the dermis and subcutaneous tissue causing pruritus, papular eruptions and pigmentation changes. Midges transmit the disease.
http://purl.obolibrary.org/obo/DOID_0050013	obsolete carbohydrate metabolism disease				An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism.
http://purl.obolibrary.org/obo/DOID_0050014	obsolete epizootic hemorrhagic disease				A viral infectious disease that results_in infection in deer, has_material_basis_in Epizootic hemorrhagic disease virus, which is transmitted_by Culicoides biting midges. The infection has_symptom hemorrhages in many tissues including the skin, heart, and gastrointestinal tract, and has_symptom ulcers of the tongue, dental pad, palate, rumen, and omasum.
http://purl.obolibrary.org/obo/DOID_0050015	obsolete Rocio virus encephalitis				A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Rocio virus, which is transmitted_by Psorophora ferox and transmitted_by Aedes species of mosquitoes. The infection has_symptom abdominal distension, has_symptom confusion, has_symptom motor impairment, has_symptom difficulty in walking and maintaining balance, has_symptom meningeal irritation, and has_symptom cerebellar syndrome.
http://purl.obolibrary.org/obo/DOID_0050068	obsolete pestis minor				A bubonic plague that results_in a benign form of bubonic plague, has_symptom fever, has_symptom lymphadenitis, has_symptom headache and has_symptom prostration.
http://purl.obolibrary.org/obo/DOID_0050074	obsolete tonsillar aspergillosis				An aspergillosis that involves fungal infection of the tonsils by Aspergillus species.
http://purl.obolibrary.org/obo/DOID_0050075	obsolete pulmonary blastomycosis				A primary systemic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom lung lesions, has_symptom pleural thickening and results_in_formation_of pulmonary nodules.
http://purl.obolibrary.org/obo/DOID_0050082	obsolete hepatic Torque teno virus infectious disease				A viral infectious disease that results_in infection located_in liver, has_material_basis_in Torque teno virus, which is transmitted_by blood transfusion.
http://purl.obolibrary.org/obo/DOID_0050084	obsolete rhinotracheitis				An upper respiratory tract disease involving inflammation of the nasal cavities and trachea caused by feline herpesvirus 1, of the family Herpesviridae in cats and especially young kittens that is characterized by sneezing, conjunctivitis with discharge, and nasal discharges.
http://purl.obolibrary.org/obo/DOID_0050085	obsolete entomophthoromycosis				A subcutaneous mycosis that involves fungal infection of the subcutaneous tissue caused by members of the order Entomophthorales.
http://purl.obolibrary.org/obo/DOID_0050086	obsolete cutaneous mucormycosis				An opportunistic mycosis that results_in fungal infection located_in cutaneous tissues or located_in subcutaneous tissues followed by a traumatic implantation of fungal elements through the skin, has_material_basis_in Mucorales molds and has_symptom necrotic lesions which progressively evolve from the epidermis into dermis and even muscle.
http://purl.obolibrary.org/obo/DOID_0050088	obsolete gastrointestinal mucormycosis				A opportunistic mycosis that results_in fungal infection located_in gastrointestinal tract, has_material_basis_in Mucorales molds in immunocompromised patients, results_in_formation_of intra-abdominal abscess and has_symptom abdominal pain, has_symptom distention, has_symptom nausea, and has_symptom vomiting.
http://purl.obolibrary.org/obo/DOID_0050089	obsolete pulmonary mucormycosis				An opportunistic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Mucorales molds and has_symptom hemoptysis and has_symptom necrosis.
http://purl.obolibrary.org/obo/DOID_0050090	obsolete rhinocerebral mucormycosis				An opportunistic mycosis that results_in fungal infection located_in nose, located_in sinuses, located_in eyes, and located_in brain of immunocompromised individuals and has_symptom orbital cellulitis, has_symptom proptosis, has_symptom pus discharge from the nose, and has_symptom seizures.
http://purl.obolibrary.org/obo/DOID_0050091	obsolete disseminated paracoccidioidomycosis				A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Paracoccidioides brasiliensis.
http://purl.obolibrary.org/obo/DOID_0050092	obsolete pulmonary paracoccidioidomycosis				A primary systemic mycosis that results_in inflammation located_in lungs, has_material_basis_in Paracoccidioides brasiliensis and has_symptom cough, has_symptom fever, has_symptom night sweats, has_symptom malaise, and has_symptom weight loss.
http://purl.obolibrary.org/obo/DOID_0050093	obsolete disseminated sporotrichosis				A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Sporothrix schenckii, a dimorphic fungus.
http://purl.obolibrary.org/obo/DOID_0050094	obsolete lymphocutaneous sporotrichosis				A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, and located_in lymphatic vessel through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions at the site of implantation and along the lymphangitic channels which soon become palpable and ulcerate.
http://purl.obolibrary.org/obo/DOID_0050095	obsolete pulmonary sporotrichosis				A primary systemic mycosis that results_in fungal infection located_in lung, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which is transmitted_by airborne spores and has_symptom productive cough, has_symptom nodules and cavitations of the lungs, has_symptom fibrosis, and has_symptom swollen hilar lymph nodes.
http://purl.obolibrary.org/obo/DOID_0050098	obsolete Microsporum audouinii tinea capitis				An ectothrix infectious disease that results_in non-inflammatory fungal infection located_in scalp and located_in skin, has_material_basis_in Microsporum audouinii.
http://purl.obolibrary.org/obo/DOID_0050099	obsolete Microsporum canis tinea capitis				An ectothrix infectious disease that results_in zoophilic fungal infection located_in hair, located_in skin, and located_in nail, has_material_basis_in Microsporum canis.
http://purl.obolibrary.org/obo/DOID_0050100	obsolete Microsporum distortum tinea capitis				An ectothrix infectious disease that results_in zoophilic fungal infection located_in skin, and located_in hair, has_material_basis_in Microsporum distortum, which causes infections in cats, dogs and other animals.
http://purl.obolibrary.org/obo/DOID_0050101	obsolete Microsporum ferrugineum tinea capitis				An ectothrix infectious disease that results_in anthropophilic fungal infection located_in skin and located_in hair, has_material_basis_in Microsporum ferrugineum.
http://purl.obolibrary.org/obo/DOID_0050102	obsolete Microsporum gypseum tinea capitis				An ectothrix infectious disease that results_in geophilic fungal infection located_in glabrous skin, located_in scalp and located_in hair, has_material_basis_in Microsporum gypseum, which results_in_formation_of inflammatory lesions.
http://purl.obolibrary.org/obo/DOID_0050103	obsolete Microsporum nanum tinea capitis				An ectothrix infectious disease that results_in geophilic and zoophilic fungal infection located_in skin, located_in scalp and located_in hair, has_material_basis_in Microsporum nanum, which results_in_formation_of chronic non-inflammatory lesions in pigs and humans.
http://purl.obolibrary.org/obo/DOID_0050104	obsolete Trichophyton verrucosum tinea capitis				An ectothrix infectious disease that results_in zoophilic inflammatory fungal infection located_in skin, located_in beard, located_in scalp and located_in nail in cattle and humans, has-agent Trichophyton verrucosum.
http://purl.obolibrary.org/obo/DOID_0050106	obsolete Trichophyton soudanense tinea capitis				An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton soudanense.
http://purl.obolibrary.org/obo/DOID_0050107	obsolete Trichophyton tonsurans tinea capitis				An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail and located_in scalp, has_material_basis_in Trichophyton tonsurans and results_in_formation_of scaling lesions.
http://purl.obolibrary.org/obo/DOID_0050108	obsolete Trichophyton violaceum tinea capitis				An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail, located_in beard, and located_in scalp, has_material_basis_in Trichophyton violaceum and results_in_formation_of scaling lesions. The hairs become notably fragile and break easily at the level of the scalp. The rest of the infected follicle looks like black dots.
http://purl.obolibrary.org/obo/DOID_0050110	obsolete Trichophyton schoenleinii tinea capitis				A tinea favosa that results_in anthropophilic fungal infection located_in scalp, has_material_basis_in Trichophyton schoenleinii. It is a chronic, scarring form of tinea capitis, which results_in_formation_of scutula and has_symptom permanent hair loss.
http://purl.obolibrary.org/obo/DOID_0050111	obsolete Microsporum fulvum tinea capitis				An ectothrix infectious disease that results_in geophilic fungal infection located_in scalp and located_in hair in humans and animals, has_material_basis_in Microsporum fulvum.
http://purl.obolibrary.org/obo/DOID_0050112	obsolete Trichophyton megninii tinea capitis				An ectothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton megninii.
http://purl.obolibrary.org/obo/DOID_0050113	obsolete Trichophyton equinum tinea capitis				An ectothrix infectious disease that results_in zoophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton equinum.
http://purl.obolibrary.org/obo/DOID_0050115	obsolete Trichophyton yaoundei tinea capitis				An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton yaoundei, results_in_formation_of lesions.
http://purl.obolibrary.org/obo/DOID_0050119	obsolete West Nile virus neurological syndrome				A West Nile virus infectious disease that has_material_basis_in West Nile virus, which can cause meningitis, encephalitis, acute laccid paralysis, Parkingsonian-like conditions or movement disorder.
http://purl.obolibrary.org/obo/DOID_0050126	obsolete Tahyna virus encephalitis				A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Tahyna virus, which is transmitted_by Aedes, transmitted_by Culex, and transmitted_by Ochlerotatus mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures.
http://purl.obolibrary.org/obo/DOID_0050139	obsolete Opisthorchis felineus infectious disease				A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis felineus. The symptoms include fever, general malaise, skin rash, gastrointestinal disturbances, severe anemia and liver damage.
http://purl.obolibrary.org/obo/DOID_0050151	obsolete tracheobronchial tuberculosis				A pulmonary tuberculosis involving inflammation of trachea and bronchi. The symptoms include dry cough followed by dyspnea, localized wheezing, hemoptysis, hoarseness, anorexia, weight loss, chest pain and fever.
http://purl.obolibrary.org/obo/DOID_0050154	obsolete mycoplasmal pneumonia				A bacterial pneumonia caused by the genus Mycoplasma.
http://purl.obolibrary.org/obo/DOID_0050165	obsolete tuberculous mesenteric gland				A tuberculosis that involves infection of the mesenteric glands by tuberculosis causing mycobacteria. The symptoms include distended abdomen, persistent intestinal indigestion, diarrhea, flatulence, and abdominal pain.
http://purl.obolibrary.org/obo/DOID_0050170	obsolete Jamestown Canyon encephalitis				A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Jamestown Canyon virus, which is transmitted_by Culiseta, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom neck stiffness, has_symptom photophobia, has_symptom nausea, has_symptom vomiting, and has_symptom seizures.
http://purl.obolibrary.org/obo/DOID_0050171	obsolete snowshoe hare encephalitis				A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Snowshoe hare virus, which is transmitted_by Aedes mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures.
http://purl.obolibrary.org/obo/DOID_0050172	obsolete trivittatus encephalitis				A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Trivittatus virus, which is transmitted_by Ochlerotatus trivittatus mosquito. The infection has_symptom headache, has_symptom fever, has_symptom disorientation, has_symptom tremors, has_symptom convulsions, has_symptom paralysis, and has_symptom coma.
http://purl.obolibrary.org/obo/DOID_0050173	obsolete inkoo encephalitis				A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Inkoo virus, which is transmitted_by Ochlerotatus communis mosquito. The infection has_symptom stiff neck, has_symptom lethargy, has_symptom headache, has_symptom fever, and has_symptom seizures.
http://purl.obolibrary.org/obo/DOID_0050178	obsolete complex genetic disease				A genetic disease that require multiple abnormal alleles to manifest are complex. These diseases are termed multifactorial or polygenic. Expressivity or penetrance of the disease is complex and is associated with multiple genes in combination with lifestyle and environmental factors. Multifactoral genetic diseases include heart disease and diabetes, although a subset of diabetes may be classified as a monogenic disease (due to the presence of a single abnormal allele).
http://purl.obolibrary.org/obo/DOID_0050180	obsolete Colorado tick fever encephalitis				A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Colorado tick fever virus which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom stiff neck, has_symptom chills, has_symptom hallucinations, has_symptom disorientation, and has_symptom memory loss.
http://purl.obolibrary.org/obo/DOID_0050181	obsolete Herpes simplex virus encephalitis				A Simplexvirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom headache, has_symptom fever, has_symptom personality and behavioral changes, has_symptom seizures, has_symptom partial paralysis, and has_symptom hallucinations.
http://purl.obolibrary.org/obo/DOID_0050182	obsolete Varicella-zoster virus encephalitis				A Varicellovirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 3 and has_symptom lethargy, has_symptom rash, has_symptom confusion, has_symptom hallucinations, has_symptom weakness, has_symptom paralysis, has_symptom numbness, and has_symptom parasthesias.
http://purl.obolibrary.org/obo/DOID_0050183	obsolete Epstein-Barr virus encephalitis				An Epstein-Barr virus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 4 and has_symptom seizures, has_symptom altered consciousness, and has_symptom cerebellar ataxia.
http://purl.obolibrary.org/obo/DOID_0050184	obsolete Measles virus encephalitis				A Measles virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom headache, has_symptom irritability, has_symptom drowsiness, has_symptom abnormal reflexes, has_symptom involuntary movements, has_symptom hemiplagia, has_symptom ataxia, has_symptom nystagmus, and has_symptom dysphasia.
http://purl.obolibrary.org/obo/DOID_0050186	obsolete Cytomegalovirus encephalitis				A Cytomegalovirus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 5, has_symptom confusional syndrome, has_symptom seizures, has_symptom coma, has_symptom dysphasia, and has_symptom cranial nerve palsies.
http://purl.obolibrary.org/obo/DOID_0050187	obsolete Rubella virus encephalitis				A Rubella virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom confusion, has_symptom drowsiness, has_symptom delirium, has_symptom convulsions, has_symptom cranial nerve palsies, and has_symptom coma.
http://purl.obolibrary.org/obo/DOID_0050188	obsolete coxsackievirus encephalitis				An Enterovirus infectious disease that involves inflammation located_in brain, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom reduced level of consciousness, has_symptom confusion, has_symptom irritability, has_symptom seizures, and has_symptom coma.
http://purl.obolibrary.org/obo/DOID_0050189	obsolete polioencephalitis				An Enterovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in polioviruses, which are transmitted_by ingestion of food contaminated with feces. The infection has_symptom tremors, has_symptom nystagmus, has_symptom loss of conjugate eye movements, has_symptom muscle rigidity, has_symptom hemiparesis, and has_symptom coma.
http://purl.obolibrary.org/obo/DOID_0050190	obsolete adenovirus encephalitis				An adenovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in Human adenovirus 2 or has_material_basis_in Human adenovirus 4. The symptoms include fever, stupor, nuchal rigidity, loss of consciousness and seizures.
http://purl.obolibrary.org/obo/DOID_0050191	obsolete influenza virus encephalitis				A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Influenza A virus or has_material_basis_in Influenza B virus, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. The infection has_symptom fever, has_symptom reduced consciousness, and has_symptom ocular muscle palsies.
http://purl.obolibrary.org/obo/DOID_0050193	obsolete Lymphocytic choriomeningitis virus encephalitis				A lymphocytic choriomeningitis that results_in inflammation located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis.
http://purl.obolibrary.org/obo/DOID_0050203	obsolete Cytomegalovirus hepatitis				A Cytomegalovirus infectious disease that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 5, has_symptom nausea, has_symptom vomiting, has_symptom headache, has_symptom abdominal pain, has_symptom dark urine, and has_symptom jaundice. Clinical feature includes atypical lymphocytes in the blood.
http://purl.obolibrary.org/obo/DOID_0050205	obsolete Herpes simplex virus hepatitis				A Simplexvirus infectious disease that results_in inflammation located_in liver, has-agent Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom fever, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom herpetic lesions.
http://purl.obolibrary.org/obo/DOID_0050206	obsolete adenovirus hepatitis				An adenovirus infectious disease that involves inflammation of the liver caused by Human adenovirus 1, has_material_basis_in Human adenovirus 2, or has_material_basis_in Human adenovirus 5. The symptoms include fever, coagulopathy and gastrointestinal bleeding. Histopathological examination reveals widespread hepatic necrosis with hemorrhage.
http://purl.obolibrary.org/obo/DOID_0050207	obsolete Rubella virus hepatitis				A Rubella virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection results in hepatic necrosis.
http://purl.obolibrary.org/obo/DOID_0050208	obsolete yellow fever hepatitis				A Yellow fever virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Yellow fever virus. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom weakness, has_symptom nausea, has_symptom vomiting, has_symptom jaundice, and has_symptom hemorrhagic manifestations.
http://purl.obolibrary.org/obo/DOID_0050209	obsolete Measles virus hepatitis				A Measles virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection causes hepatic dysfunction and has_symptom jaundice.
http://purl.obolibrary.org/obo/DOID_0050210	obsolete Varicella-zoster virus hepatitis				A Varicellovirus infectious disease that results_in inflammation located_in liver, has_material_basis_in Human herpesvirus 3, has_symptom skin rash, has_symptom oral lesions, has_symptom severe abdominal and back pain, has_symptom fever, has_symptom chills, has_symptom malaise, and has_symptom fatigue.
http://purl.obolibrary.org/obo/DOID_0050212	obsolete Campylobacter jejuni gastroenteritis				A primary Campylobacter infectious disease that involves inflammation of the stomach and intestines caused by Campylobacter jejuni infection, which is characterized by diarrhea (may be bloody), abdominal pain, fever and vomiting.
http://purl.obolibrary.org/obo/DOID_0050213	obsolete Vibrio gastroenteritis				A Vibrio infectious disease that involves inflammation of the stomach and intestines caused by noncholera Vibrio species like Vibrio parahaemolyticus, Vibrio fluvialis and Vibrio vulnificus. Some species produce enterotoxins, which impair intestinal absorption, resulting in watery diarrhea. The symptoms include abdominal cramps, fever, vomiting, nausea and diarrhea.
http://purl.obolibrary.org/obo/DOID_0050215	obsolete Staphylococcus gastroenteritis				A staphylococcal infectious disease that is caused by ingestion of food containing enterotoxins, which are produced by staphylococcal species. The symptoms include abdominal cramps, diarrhea, headache and fever.
http://purl.obolibrary.org/obo/DOID_0050216	obsolete Bacillus cereus gastroenteritis				A primary Bacillaceae infectious disease that is caused by ingestion of food contaminated with Bacillus cereus, which produces enterotoxins in the intestine. The symptoms include vomiting, abdominal cramps, fever and diarrhea.
http://purl.obolibrary.org/obo/DOID_0050217	obsolete Sapovirus gastroenteritis				A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Sapovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom diarrhea.
http://purl.obolibrary.org/obo/DOID_0050219	obsolete Hepeviridae infectious disease				A (+)ssRNA virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepeviridae viruses.
http://purl.obolibrary.org/obo/DOID_0050220	obsolete Coxiella burnetii pneumonia				A Q fever that is a zoonotic infectious disease caused by Coxiella burnetii, a bacterium which affects both humans and animals. The symptoms include fever, headache, cough, pleuritic chest pain, myalgia and arthralgia. Infection of humans usually occurs by inhalation of these organisms from air that contains airborne barnyard dust contaminated by dried placental material, birth fluids, or excreta of infected herd animals, ingestion of contaminated milk, tick bites and human to human transmission.
http://purl.obolibrary.org/obo/DOID_0050221	obsolete Coxiella burnetii hepatitis				A Q fever that involves inflammation of the liver caused by Coxiella burnetti, which results in the formation of granulomas. The symptoms include fever, malaise, hepatomegaly with right upper abdominal pain, and jaundice.
http://purl.obolibrary.org/obo/DOID_0050223	obsolete candidal gastritis				A candidiasis that involves inflammation of the gastric mucosa caused by Candida albicans infection. The symptoms include dyspepsia, gastric ulcers, gastric perforations, nausea and vomiting.
http://purl.obolibrary.org/obo/DOID_0050224	obsolete Helicobacter heilmannii infectious disease				A primary Helicobacter infectious disease that involves inflammation of the stomach lining caused by Candidatus Helicobacter heilmannii, which is associated with peptic ulceration.
http://purl.obolibrary.org/obo/DOID_0050225	obsolete Histoplasma capsulatum gastritis				An American histoplasmosis that results_in inflammation, located_in stomach lining in immunocompromised patients, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of gastric mass with ulceration, and results_in_formation_of hypertrophic gastric folds.
http://purl.obolibrary.org/obo/DOID_0050226	obsolete Morganella morganii intestinal infectious disease				An opportunistic bacterial infectious disease that involves infection of the intestine caused by Morganella morganii.
http://purl.obolibrary.org/obo/DOID_0050227	obsolete Vibrio cholerae O139 cholera				A cholera that involves infection of the intestine caused by Vibrio cholerae O139 strain.
http://purl.obolibrary.org/obo/DOID_0050228	obsolete amebic dysentery				An amebiasis that involves infection of the intestine with Entamoeba histolytica trophozoites, which adhere to and kill colonic epithelial cells causing diarrhea with blood and mucus. The symptoms inlcude abdominal pain and fever.
http://purl.obolibrary.org/obo/DOID_0050229	obsolete Escherichia coli dysentery				An enteroinvasive Escherichia coli infectious disease that involves infection of the intestine caused by enteroinvasive Escherichia coli. The symptoms include fever, bloody diarrhea, and dehydration.
http://purl.obolibrary.org/obo/DOID_0050230	obsolete intestinal capillariasis				A capillariasis that involves infection of the intestine with Capillaria causing abdominal pain, weight loss, stomach growling, depressed levels of potassium and albumin in the blood, and diarrhea.
http://purl.obolibrary.org/obo/DOID_0050231	obsolete hepatic capillariasis				A capillariasis that involves infection of the liver with Capillaria, which manifests as an acute or subacute hepatitis with eosinophilia. The symptoms include abdominal pain, fever, chills, hepatitis, ascites, hepatolithiasis, and hepatomegaly.
http://purl.obolibrary.org/obo/DOID_0050232	obsolete pulmonary capillariasis				A capillariasis that involves infection of the lungs with Capillaria, resulting in fever, cough, asthma, and pneumonia.
http://purl.obolibrary.org/obo/DOID_0050233	obsolete Balamuthia mandrillaris infectious disease				A parasitic protozoa infectious disease that involves infection caused by a free-living ameba Balamuthia mandrillaris resulting in encephalitis and skin lesions in humans and animals.
http://purl.obolibrary.org/obo/DOID_0050234	obsolete Acanthamoeba infectious disease				A parasitic protozoa infectious disease that involves an infection in humans and animals caused by a parasitic protozoan of genus Acanthamoeba, which is an opportunistic pathogen occuring in patients with weakened immune system.
http://purl.obolibrary.org/obo/DOID_0050235	obsolete Alveolata infectious disease				A parasitic protozoa infectious disease that involves infection caused by alveolates, which are single-celled eukaryotes.
http://purl.obolibrary.org/obo/DOID_0050236	obsolete Heterolobosea infectious disease				A parasitic protozoa infectious disease that involves infection caused by the members of the class Heterolobosea, which move with eruptive bulges and show transformation to a temporary flagellate stage.
http://purl.obolibrary.org/obo/DOID_0050237	obsolete Euglenozoa infectious disease				A parasitic protozoa infectious disease that involves infection caused by euglenozoans, which are single-celled flagellates.
http://purl.obolibrary.org/obo/DOID_0050238	obsolete Parabasalia infectious disease				A parasitic protozoa infectious disease that involves infection caused by parabasalids, which are anaerobic flagellated protozoans.
http://purl.obolibrary.org/obo/DOID_0050239	obsolete Fornicata infectious disease				A parasitic protozoa infectious disease that involves infection caused by fornicates, which are unicellular flagellates with one or two karyomastigonts per cell.
http://purl.obolibrary.org/obo/DOID_0050240	obsolete Trichomonadida infectious disease				A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Trichomonadida. They typically have four to six flagella at the cell's apical pole.
http://purl.obolibrary.org/obo/DOID_0050241	obsolete Tritrichomonadida infectious disease				A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Tritrichomonadida, which are characterized by a single mastigont with four flagella, and both a comb-like structure and an infrakinetosomal body.
http://purl.obolibrary.org/obo/DOID_0050243	obsolete Apicomplexa infectious disease				An Alveolata infectious disease that involves infection caused by the members of the phylum Apicomplexa, which are unicellular, spore forming parasites of animals and humans.
http://purl.obolibrary.org/obo/DOID_0050244	obsolete Coccidia infectious disease				An Apicomplexa infectious disease that involves infection caused by the members of the class Coccidia, which are spore-forming, single-celled and obligate intracellular parasites of the intestinal tract of animals and humans.
http://purl.obolibrary.org/obo/DOID_0050245	obsolete Aconoidasida infectious disease				An Apicomplexa infectious disease that involves infection caused by the members of the class Aconoidasida.
http://purl.obolibrary.org/obo/DOID_0050247	obsolete parasitic stramenopiles infectious disease				A parasitic infectious disease that involves infection caused by parasitic members of the taxon stramenopiles, in which the flagellate cells possess two different shaped flagella. This taxon contains both unicellular and multicellular organisms.
http://purl.obolibrary.org/obo/DOID_0050249	obsolete Brugia timori filariasis				A filarial elephantiasis that involves parasitic infection by the nematode Brugia timori, which inhabits the lymphatics. The symptoms include fever and chronic lymphedema.
http://purl.obolibrary.org/obo/DOID_0050252	obsolete Dipylidium caninum infectious disease				A parasitic helminthiasis infectious disease that involves parasitic infection in dogs, cats and humans caused by cysticercoid larvae of Dipylidium caninum through ingestion of larvae contaminated flea, which results in diarrhea and restlessness.
http://purl.obolibrary.org/obo/DOID_0050255	obsolete Uncinaria stenocephala infectious disease				A parasitic helminthiasis infectious disease that involves infection of the small intestine in humans, cats, dogs and foxes by the nematode Uncinaria stenocephala. The symptoms include diarrhea and hypoproteinemia in heavier infections.
http://purl.obolibrary.org/obo/DOID_0050257	obsolete Angiostrongylus cantonensis infectious disease				An angiostrongyliasis that involves infection of the brain by the larvae of Angiostrongylus cantonensis causing eosinophilic meningitis. The symptoms include severe headache, nausea, vomiting, neck stiffness, seizures, and neurologic abnormalities. Ocular invasion by the larvae can occur.
http://purl.obolibrary.org/obo/DOID_0050258	obsolete Angiostrongylus costaricensis infectious disease				An angiostrongyliasis that involves infection of the intestine by Angiostrongylus costaricensis, which is characterized by the formation of granulomas with heavy eosinophilic infiltration in the abdominal cavity.
http://purl.obolibrary.org/obo/DOID_0050262	obsolete Acoelomata infectious disease				A parasitic helminthiasis infectious disease that involves infection caused by parasitic worms, which are bilaterian, unsegmented, soft-bodied invertebrate animals with no body cavity.
http://purl.obolibrary.org/obo/DOID_0050263	obsolete Pseudocoelomata infectious disease				A parasitic helminthiasis infectious disease that involves infection caused by parasitic invertebrates, which have a pseudocoel. Tissue derived from mesoderm only partly lines the fluid filled body cavity of these animals.
http://purl.obolibrary.org/obo/DOID_0050264	obsolete Acanthocephala infectious disease				A Pseudocoelomata infectious disease that involves infection by parasitic worms known as thorny-headed worms, characterized by the presence of an evertable proboscis, armed with spines, which is used to pierce and hold the gut wall of the host.
http://purl.obolibrary.org/obo/DOID_0050271	obsolete cutaneous ascomycota mycosis				A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Ascomycota phylum members.
http://purl.obolibrary.org/obo/DOID_0050272	obsolete cutaneous basidiomycota mycosis				A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Basidiomycota phylum members.
http://purl.obolibrary.org/obo/DOID_0050273	obsolete Neoscytalidium dimidiatum infectious disease				A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Neoscytalidium dimidiatum and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed.
http://purl.obolibrary.org/obo/DOID_0050274	obsolete Scopulariopsis infectious disease				An opportunistic mycosis that has_material_basis_in Scopulariopsis, which results_in a systemic infection in immunocompromised individuals.
http://purl.obolibrary.org/obo/DOID_0050275	obsolete onychomycosis				A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi which are not dermatophytes and has_symptom opaque nail, has_symptom yellow-brown nail, has_symptom crumbly nail that can separate from the nail bed.
http://purl.obolibrary.org/obo/DOID_0050276	obsolete subcutaneous ascomycota mycosis				A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Ascomycota phylum members.
http://purl.obolibrary.org/obo/DOID_0050277	obsolete subcutaneous fungi incertae sedis mycosis				A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Fungi incertae sedis taxon members.
http://purl.obolibrary.org/obo/DOID_0050280	obsolete superficial ascomycota mycosis				A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Ascomycota phylum members.
http://purl.obolibrary.org/obo/DOID_0050281	obsolete superficial basidiomycota mycosis				A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Basidiomycota phylum members.
http://purl.obolibrary.org/obo/DOID_0050282	obsolete primary systemic ascomycota mycosis				A primary systemic mycosis that results_in fungal infection located_in human body, has_material_basis_in Ascomycota phylum members.
http://purl.obolibrary.org/obo/DOID_0050283	obsolete Stachybotrys infectious disease				A primary systemic mycosis that results_in systemic fungal infection in animals and humans, has_material_basis_in Stachybotrys chartarum, transmitted_by airborne spores and transmitted_by vehicle-borne ingestion and the fungus produces trichothecene mycotoxins including satratoxins causing pulmonary hemorrhage in infants.
http://purl.obolibrary.org/obo/DOID_0050284	obsolete opportunistic ascomycota mycosis				An opportunistic mycosis that involves infection of the body by fungi belonging to the phylum Ascomycota.
http://purl.obolibrary.org/obo/DOID_0050285	obsolete opportunistic basidiomycota mycosis				An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Basidiomycota phylum members.
http://purl.obolibrary.org/obo/DOID_0050286	obsolete opportunistic fungi incertae sedis mycosis				An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Fungi incertae sedis taxon members.
http://purl.obolibrary.org/obo/DOID_0050287	obsolete opportunistic microsporidia mycosis				An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Microsporidia phylum members.
http://purl.obolibrary.org/obo/DOID_0050293	obsolete Scopulariopsis brevicaulis infectious disease				An opportunistic mycosis that results_in fungal infection located_in nail, has_material_basis_in Scopulariopsis brevicaulis and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed.
http://purl.obolibrary.org/obo/DOID_0050294	obsolete Scytalidium hyalinum infectious disease				A dermatomycosis that results_in fungal infection located_in hand, foot and nail of toe by Scytalidium hyalinum, resulting_in_formation_of lesions and has_symptom keratotic plantar surface.
http://purl.obolibrary.org/obo/DOID_0050295	obsolete cutaneous sporotrichosis				A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions evolving into either smooth or verrucose painless nodules that may ulcerate and drain.
http://purl.obolibrary.org/obo/DOID_0050296	obsolete Asfarviridae infectious disease				A dsDNA virus infectious disease that results_in infection in pigs, has_material_basis_in Asfarviridae viruses, which are transmitted_by soft tick bite.
http://purl.obolibrary.org/obo/DOID_0050298	obsolete adenovirus infectious disease				A viral infectious disease that results_in infection in cattle, dogs, horses, pigs, and humans, has_material_basis_in Adenoviridae viruses.
http://purl.obolibrary.org/obo/DOID_0050299	obsolete Simplexvirus infectious disease				A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Simplexvirus.
http://purl.obolibrary.org/obo/DOID_0050300	obsolete Deltavirus infectious disease				A (-)ssRNA virus infectious disease that results_in infection located_in liver in humans, has_material_basis_in Deltavirus.
http://purl.obolibrary.org/obo/DOID_0050301	obsolete Polyomaviridae infectious disease				A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomaviridae viruses.
http://purl.obolibrary.org/obo/DOID_0050302	obsolete Varicellovirus infectious disease				A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Varicellovirus.
http://purl.obolibrary.org/obo/DOID_0050303	obsolete Hepacivirus infectious disease				A Flaviviridae infectious disease that results_in infection, has_material_basis_in Hepacivirus, which is transmitted_by sexual contact, or transmitted_by blood transfusion.
http://purl.obolibrary.org/obo/DOID_0050305	obsolete Arteriviridae infectious disease				A Nidovirales infectious disease that results_in infection in animals, has_material_basis_in Arteriviridae viruses.
http://purl.obolibrary.org/obo/DOID_0050307	obsolete Bornaviridae infectious disease				A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Bornaviridae viruses.
http://purl.obolibrary.org/obo/DOID_0050309	obsolete Measles virus infectious disease				A viral infectious disease that results_in infection, has_material_basis_in Measles virus, which is transmitted_by droplet spread, or trasnmitted_by contact of oronasal secretions from an infected person.
http://purl.obolibrary.org/obo/DOID_0050324	obsolete physical disorder OBSOLETED TERM				A disorder that has an available objective mechanical test (such as chemical tests or brain scans), and are diagnosed only by behavioral syndrome (such as those in the Diagnostic and Statistical Manual of Mental Disorders (DSM).
http://purl.obolibrary.org/obo/DOID_0050325	obsolete genetic disorder				A medical disorder that is an illness caused by abnormalities in genes or chromosomes.
http://purl.obolibrary.org/obo/DOID_0050329	obsolete mental disorder				A disorder that is a psychological or behavioral pattern associated with distress or disability that occurs in an individual and is not a part of normal development or culture.
http://purl.obolibrary.org/obo/DOID_0050342	obsolete commensal Actinomycetales infectious disease				A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinomycetales bacteria, which are part of the normal human flora.
http://purl.obolibrary.org/obo/DOID_0050494	obsolete Papillomaviridae infectious disease				A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Papillomaviridae viruses.
http://purl.obolibrary.org/obo/DOID_0050496	obsolete Banna virus encephalitis				A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Banna virus, which is transmitted_by Culex, and transmitted_by Anopheles mosquitoes. The infection has_symptom fever, and has_symptom headache.
http://purl.obolibrary.org/obo/DOID_0050497	obsolete Anelloviridae infectious disease				A ssDNA virus infectious disease that results_in infection in humans, has_material_basis_in Anelloviridae viruses.
http://purl.obolibrary.org/obo/DOID_0050498	obsolete dsDNA virus infectious disease				A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA viruses, which possess double-stranded DNA.
http://purl.obolibrary.org/obo/DOID_0050499	obsolete ssDNA virus infectious disease				A DNA virus infectious disease that results_in infection, has_material_basis_in ssDNA viruses, which possess single-stranded DNA.
http://purl.obolibrary.org/obo/DOID_0050500	obsolete dsDNA-RT virus infectious disease				A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA retro-transcribing viruses, which possess double-stranded DNA genomes and replicate using reverse transcriptase.
http://purl.obolibrary.org/obo/DOID_0050501	obsolete dsRNA virus infectious disease				A RNA virus infectious disease that results_in infection, has_material_basis_in dsRNA viruses, which possess double-stranded RNA genomes.
http://purl.obolibrary.org/obo/DOID_0050502	obsolete (+)ssRNA virus infectious disease				A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA positive-strand viruses, no DNA stage, which possess positive-sense single-stranded RNA genomes.
http://purl.obolibrary.org/obo/DOID_0050503	obsolete (-)ssRNA virus infectious disease				A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA negative-strand viruses, which have negative-sense single-stranded RNA genomes.
http://purl.obolibrary.org/obo/DOID_0050504	obsolete ssRNA-RT virus infectious disease				A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA retro-transcribing viruses, which possess single-stranded RNA genomes and replicate using reverse transcriptase.
http://purl.obolibrary.org/obo/DOID_0050505	obsolete human papilloma virus related anal squamous cell carcinoma				A human papillomavirus related squamous cell carcinoma that results_in infection located_in anus, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of anus.
http://purl.obolibrary.org/obo/DOID_0050506	obsolete human papilloma virus related vaginal squamous cell carcinoma				A human papillomavirus related squamous cell carcinoma that results_in infection located_in vagina, has_material_basis_in human papillomavirus (type16), which cause malignant tumors in squamous epithelium of the vagina.
http://purl.obolibrary.org/obo/DOID_0050511	obsolete Human torovirus gastroenteritis				A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human torovirus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom bloody diarrhea.
http://purl.obolibrary.org/obo/DOID_0050512	obsolete Saffold virus gastroenteritis				A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Saffold virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom watery diarrhea, has_symptom fever, has_symptom nausea, and has_symptom vomiting.
http://purl.obolibrary.org/obo/DOID_0050519	obsolete Lymphocytic choriomeningitis virus meningitis				A lymphocytic choriomeningitis that results_in inflammation located_in meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, and has_symptom stiff neck.
http://purl.obolibrary.org/obo/DOID_0050520	obsolete Lymphocytic choriomeningitis virus meningoencephalitis				A lymphocytic choriomeningitis that results_in inflammation located_in meninges and located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, has_symptom stiff neck, has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis.
http://purl.obolibrary.org/obo/DOID_0050536	obsolete SC phocomelia syndrome				A syndrome that is characterized by severe prenatal growth retardation resulting in malformation of the bones in the skull, face and limbs, has_material_basis_in the mutation in the ESCO2 gene.
http://purl.obolibrary.org/obo/DOID_0050549	obsolete Saldino-Noonan syndrome				A syndrome characterized by congenital heart defects, failure to thrive, short stature, cognitive dysfunction, pectus excavatum, coagulation defects and craniofacial defects and that has_material_basis_in the mutation in the Ras/mitogen activated protein kinase.
http://purl.obolibrary.org/obo/DOID_0050556	obsolete infantile onset spinocerebellar ataxia				An autosomal recessive cerebellar ataxia that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment, has_material_basis_in mutation in the TWNK gene that affects mitochondrial function.
http://purl.obolibrary.org/obo/DOID_0050747	obsolete lymphoplasmacytic lymphoma				A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells.
http://purl.obolibrary.org/obo/DOID_0050780	obsolete Opitz-GBBB syndrome				A syndrome that is characterized by hypertelorism, hypospadias, and additional midline defects.
http://purl.obolibrary.org/obo/DOID_0050786	obsolete iridogoniodysgenesis syndrome				An iris disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene.
http://purl.obolibrary.org/obo/DOID_0050815	obsolete eye adnexa disease				An eye and adnexa disease that is located_in the adnexa of the eye.
http://purl.obolibrary.org/obo/DOID_0050819	obsolete Matthew-Wood syndrome				A syndrome that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect.
http://purl.obolibrary.org/obo/DOID_0050867	obsolete Jensen syndrome				A syndrome that is characterized by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia.
http://purl.obolibrary.org/obo/DOID_0050966	obsolete spinocerebellar ataxia type 16				An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia, dysarthria, nystagmus, peripheral neuropathy and limb spasticity, has_material_basis_in mutation in the STUB1 gene.
http://purl.obolibrary.org/obo/DOID_0060006	obsolete artemis deficiency				A severe combined immunodeficiency that is caused when the DCLREI1, DNA cross-link repair 1C gene contains mutations resulting in the inability to repair DNA.
http://purl.obolibrary.org/obo/DOID_0060015	obsolete interleukin-7 receptor alpha deficiency				A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus.
http://purl.obolibrary.org/obo/DOID_0060035	obsolete medical disorder				A disease that is present at birth due to a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
http://purl.obolibrary.org/obo/DOID_0060052	obsolete neurological disorder				A physical disorder that is the result of structural, biochemical or electrical abnormalities in the brain or spinal cord, or in the nerves leading to or from them, can result in symptoms such as paralysis, muscle weakness, poor coordination, loss of sensation, seizures, confusion, pain and altered levels of consciousness.
http://purl.obolibrary.org/obo/DOID_0060053	obsolete peripheral neuropathy				A neuropathy that is located_in nerves of the peripheral nervous system.
http://purl.obolibrary.org/obo/DOID_0060064	obsolete sideroblastic anemia with spinocerebellar ataxia				A sideoblastic anemia that is characterized by microcytic hypochromic anemia and ealy-onset, slowly progressive spinocerebellar ataxia, and has_material_basis_in X-linked inheritance of mutation in the ABCB7 gene that encodes a transporter protein that plays a role in heme production in the bone marrow and cerebellum.
http://purl.obolibrary.org/obo/DOID_0060101	obsolete benign glioma				A cell type benign neoplasm that has_material_basis_in glial cells.
http://purl.obolibrary.org/obo/DOID_0060208	obsolete amyotrophic lateral sclerosis type 17				An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHMP2B gene on chromosome 3.
http://purl.obolibrary.org/obo/DOID_0060561	obsolete DMD-related dilated cardiomyopathy				A dilated cardiomyopathy that has_material_basis_in mutations in the DMD gene.
http://purl.obolibrary.org/obo/DOID_0060605	obsolete anterior segment mesenchymal dysgenesis				An eye disease that is characterized by impaired development of the anterior segment of the eye.
http://purl.obolibrary.org/obo/DOID_0060771	obsolete dextro-looped transposition of the great arteries 1				A dextro-looped transposition of the great arteries that has_material_basis_in heterozygous missense mutation in the MED13L gene on chromosome 12q24.
http://purl.obolibrary.org/obo/DOID_0060829	obsolete Brooks-Wisniewski-Brown syndrome				A syndromic X-linked intellectual disability characterized by intellectual disability, distinct facial appearance and growth retardation that has_material_basis_in variation on the X chromosome.
http://purl.obolibrary.org/obo/DOID_0070001	obsolete neoplastic disease				A disease of cellular proliferation that results in an abnormal mass of tissue.
http://purl.obolibrary.org/obo/DOID_0080034	obsolete endosteal hyperostosis				A hyperostosis of endosteal bone.
http://purl.obolibrary.org/obo/DOID_0080091	obsolete spheroid body myopathy				A myofibrillar myopathy that is characterized by predominantly proximal muscle weakness associated with spheroid body inclusions and that has_material_basis_in heterozygous mutation in the myotilin gene on chromosome 5q31.
http://purl.obolibrary.org/obo/DOID_0080100	obsolete Batten Turner congenital myopathy				A myopathy that is characterized by the lack of muscle tone or floppiness at birth.
http://purl.obolibrary.org/obo/DOID_0110071	obsolete arrhythmogenic right ventricular dysplasia 2				An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the cardiac ryanodine receptor-2 gene (RYR2) on chromosome 1q43.
http://purl.obolibrary.org/obo/DOID_0110578	obsolete autosomal dominant nonsyndromic deafness 52				An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31.1-q32.
http://purl.obolibrary.org/obo/DOID_0110631	obsolete arthrogryposis due to muscular dystrophy				A congenital muscular dystrophy characterized by nonprogressive myopathy resulting in an arthrogryposis syndrome.
http://purl.obolibrary.org/obo/DOID_0110638	obsolete congenital muscular dystrophy merosin-positive				A congenital muscular dystrophy characterized by autosomal recessive inheritance of generalized muscle weakness and hypotonia without arthrogryposis or central nervous system involvement that has_material_basis_in mutation in the chromosome region 4p16.3.
http://purl.obolibrary.org/obo/DOID_0110836	obsolete Usher syndrome type 1J				An Usher syndrome type 1 that has_material_basis_in caused by homozygous mutation in the CIB2 gene on chromosome 15q24.
http://purl.obolibrary.org/obo/DOID_10007	obsolete respiratory syncytial virus bronchiolitis				A respiratory syncytial virus infectious disease that results_in inflammation located_in bronchiole, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. Infection is characterized by inflammation, edema, and necrosis of the small airway epithelium with associated bronchospasm and increased mucous production.
http://purl.obolibrary.org/obo/DOID_10049	obsolete desmoplastic melanoma				A skin malanoma that results_in nonpigmented lesions located_in sun-exposed areas of the body, most commonly on the head and neck.
http://purl.obolibrary.org/obo/DOID_10066	obsolete syphilitic acoustic neuritis				A tertiary neurosyphilis that is caused due to syphilis, which occurs suddenly and produces tinnitus and deafness when the cochlear branch is affected whereas vertigo, disturbances of equilibrium, spontaneous nystagmus and vomiting when the vestibular branch suffers. A combination of these symptoms are seen when both the branches are involved.
http://purl.obolibrary.org/obo/DOID_10114	obsolete Trypanosoma brucei rhodesiense infectious disease				A sleeping sickness that involves infection caused by Trypanosoma brucei rhodesiense, which is carried by the tsetse fly. The symptoms include fever, severe headache, irritability, extreme fatigue, swollen lymph nodes, aching muscles and joints, skin rash, progressive confusion, personality changes, and other neurologic problems.
http://purl.obolibrary.org/obo/DOID_10116	obsolete Trypanosoma brucei gambiense infectious disease				A sleeping sickness that involves infection caused by Trypanosoma brucei gambiense, which is carried by the tsetse fly. The symptoms include fever, rash, swelling of the face and hands, headaches, fatigue, aching muscles and joints, itching skin, swollen lymph nodes, progressive confusion, personality changes, daytime sleepiness with nighttime sleep disturbances, and other neurologic problems.
http://purl.obolibrary.org/obo/DOID_10150	obsolete lower limb cancer				A malignant neoplasm that is manifested in the lower limb.
http://purl.obolibrary.org/obo/DOID_10233	obsolete Histoplasma capsulatum pericarditis				An American histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough.
http://purl.obolibrary.org/obo/DOID_10237	obsolete pelvic cancer				A malignant neoplasm that is manifested in the pelvic region.
http://purl.obolibrary.org/obo/DOID_10263	obsolete Mumps virus hepatitis				A Mumps virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection causes swelling of parotid gland and has_symptom fever, has_symptom nausea, has_symptom anorexia, and has_symptom dark urine.
http://purl.obolibrary.org/obo/DOID_10277	obsolete Pseudomonas intestinal infectious disease				A Pseudomonas infectious disease that involves infection of the intestine caused by the bacterial genus Pseudomonas, which can result in diarrhea, necrotizing enterocolitis, typhlitis and rectal abscess.
http://purl.obolibrary.org/obo/DOID_10304	obsolete Mumps virus infectious disease				A viral infectious disease that results_in infection in humans, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person.
http://purl.obolibrary.org/obo/DOID_10305	obsolete Mumps virus orchitis				A Mumps virus infectious disease that results_in inflammation located_in testis, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom groin pain, has_symptom discharge from penis, has_symptom scrotal swelling, and has_symptom blood in the semen.
http://purl.obolibrary.org/obo/DOID_10307	obsolete Mumps virus polyneuritis				A Mumps virus infectious disease that results_in inflammation located_in peripheral nerves, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom pins-and-needles sensation, has_symptom weakness, and has_symptom numbness.
http://purl.obolibrary.org/obo/DOID_10309	obsolete Mumps virus meningitis				A Mumps virus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom severe headache, and has_symptom neck stiffness.
http://purl.obolibrary.org/obo/DOID_10311	obsolete Mumps virus encephalitis				A Mumps virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection has_symptom convulsions, has_symptom drowsiness, has_symptom rigidity of limbs, and has_symptom slurred speech.
http://purl.obolibrary.org/obo/DOID_10312	obsolete Mumps virus pancreatitis				A Mumps virus infectious disease that results_in inflammation located_in pancreas, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom abdominal pain, has_symptom chills, has_symptom fever, and has_symptom persistent vomiting.
http://purl.obolibrary.org/obo/DOID_0080378	obsolete Zellweger spectrum disorder				
http://purl.obolibrary.org/obo/DOID_0080423	obsolete early infantile epileptic encephalopathy 39				
http://purl.obolibrary.org/obo/DOID_0080466	obsolete multiple congenital anomalies-hypotonia-seizures syndrome 2				
http://purl.obolibrary.org/obo/DOID_0080469	obsolete congenital disorder of glycosylation type 2m				
http://purl.obolibrary.org/obo/DOID_1801	obsolete secondary malignant neoplasm to the pancreas				
http://purl.obolibrary.org/obo/DOID_1823	obsolete petit mal status				
http://purl.obolibrary.org/obo/DOID_1832	obsolete Mild hyperemesis gravidarum				
http://purl.obolibrary.org/obo/DOID_1873	obsolete abortion complicated by metabolic disorder				
http://purl.obolibrary.org/obo/DOID_1908	obsolete cutaneous fibrohistiocytic neoplasm				
http://purl.obolibrary.org/obo/DOID_1912	obsolete metastasis to vagina				
http://purl.obolibrary.org/obo/DOID_1913	obsolete alternating exotropia with A pattern				
http://purl.obolibrary.org/obo/DOID_1922	obsolete endocrine syndrome				
http://purl.obolibrary.org/obo/DOID_1938	obsolete primary Bacillaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_194	obsolete gonadal tissue neoplasm				
http://purl.obolibrary.org/obo/DOID_1941	obsolete intermittent alternating exotropia				
http://purl.obolibrary.org/obo/DOID_195	obsolete reproductive endocrine cancer				
http://purl.obolibrary.org/obo/DOID_1954	obsolete benign hypertensive heart disease				
http://purl.obolibrary.org/obo/DOID_196	obsolete acinar cell tumor				
http://purl.obolibrary.org/obo/DOID_1966	obsolete fallopian tube soft tissue neoplasm				
http://purl.obolibrary.org/obo/DOID_197	obsolete glandular cell epithelial neoplasm				
http://purl.obolibrary.org/obo/DOID_1977	obsolete lipoma of the mediastinum				
http://purl.obolibrary.org/obo/DOID_1978	obsolete juxtapapillary focal choroiditis and chorioretinitis				
http://purl.obolibrary.org/obo/DOID_198	obsolete mesonephric tumor				
http://purl.obolibrary.org/obo/DOID_1986	obsolete perinatal disease				
http://purl.obolibrary.org/obo/DOID_1987	obsolete fetal disease				
http://purl.obolibrary.org/obo/DOID_1990	obsolete metastasis to the rectum				
http://purl.obolibrary.org/obo/DOID_1991	obsolete metastases to large Intestine				
http://purl.obolibrary.org/obo/DOID_2010	obsolete impaired mobility of ear ossicles except malleus				
http://purl.obolibrary.org/obo/DOID_2014	obsolete perinatal digestive system disorder				
http://purl.obolibrary.org/obo/DOID_2022	obsolete metastatic neoplasm to the placenta				
http://purl.obolibrary.org/obo/DOID_2027	obsolete fetal or neonatal hemorrhage				
http://purl.obolibrary.org/obo/DOID_2038	obsolete urogenital abnormality				
http://purl.obolibrary.org/obo/DOID_2062	obsolete vulvar tumor of skin appendage origin				
http://purl.obolibrary.org/obo/DOID_2069	obsolete vulvar acquired melanocytic nevus				
http://purl.obolibrary.org/obo/DOID_2070	obsolete vulvar melanocytic neoplasm				
http://purl.obolibrary.org/obo/DOID_2077	obsolete vulvar congenital melanocytic nevus				
http://purl.obolibrary.org/obo/DOID_208	obsolete hereditary neoplastic syndrome				
http://purl.obolibrary.org/obo/DOID_2083	obsolete vulvar soft tissue tumor				
http://purl.obolibrary.org/obo/DOID_2085	obsolete vulvar blue nevus				
http://purl.obolibrary.org/obo/DOID_2086	obsolete blue nevus				
http://purl.obolibrary.org/obo/DOID_2088	obsolete outlet dysfunction constipation				
http://purl.obolibrary.org/obo/DOID_2094	obsolete vulvar sweat gland cancer				
http://purl.obolibrary.org/obo/DOID_2099	obsolete extramammary Paget's disease				
http://purl.obolibrary.org/obo/DOID_2100	obsolete vulvar metastasis				
http://purl.obolibrary.org/obo/DOID_211	obsolete Ankle or tarsus enthesopathy				
http://purl.obolibrary.org/obo/DOID_2124	obsolete intracranial neoplasm				
http://purl.obolibrary.org/obo/DOID_2128	obsolete intracranial germinoma				
http://purl.obolibrary.org/obo/DOID_2131	obsolete childhood malignant central nervous system neoplasm				
http://purl.obolibrary.org/obo/DOID_2147	obsolete ovary soft tissue neoplasm				
http://purl.obolibrary.org/obo/DOID_2158	obsolete lung metastasis				
http://purl.obolibrary.org/obo/DOID_2172	obsolete malignant eyelid tumor				
http://purl.obolibrary.org/obo/DOID_2177	obsolete complications mainly related to pregnancy				
http://purl.obolibrary.org/obo/DOID_2179	obsolete diabetes mellitus insulin dependent type, uncontrolled, with ophthalmic manifestations				
http://purl.obolibrary.org/obo/DOID_2180	obsolete diabetic oculopathy				
http://purl.obolibrary.org/obo/DOID_2186	obsolete macrocephaly				
http://purl.obolibrary.org/obo/DOID_2212	obsolete coagulation protein disease				
http://purl.obolibrary.org/obo/DOID_2225	obsolete megakaryocytic tumor				
http://purl.obolibrary.org/obo/DOID_2227	obsolete malignant neoplasm of lymphatic and hemopoietic tissue				
http://purl.obolibrary.org/obo/DOID_2230	obsolete hemophilia				
http://purl.obolibrary.org/obo/DOID_2232	obsolete coagulation factor deficiency				
http://purl.obolibrary.org/obo/DOID_2233	obsolete partial epilepsy with impairment of consciousness				
http://purl.obolibrary.org/obo/DOID_2242	obsolete mild recurrent major depression				
http://purl.obolibrary.org/obo/DOID_2255	obsolete short rib-polydactyly syndrome				
http://purl.obolibrary.org/obo/DOID_2257	obsolete primary Spirochaetales infectious disease				
http://purl.obolibrary.org/obo/DOID_2265	obsolete Treponema infectious disease				
http://purl.obolibrary.org/obo/DOID_2279	obsolete joint derangement				
http://purl.obolibrary.org/obo/DOID_2313	obsolete primary Actinomycetales infectious disease				
http://purl.obolibrary.org/obo/DOID_2321	obsolete dyspepsia				
http://purl.obolibrary.org/obo/DOID_2323	obsolete prostate non-neoplastic disease				
http://purl.obolibrary.org/obo/DOID_2325	obsolete enterovirus meningitis				
http://purl.obolibrary.org/obo/DOID_233	obsolete ocular tuberculosis				
http://purl.obolibrary.org/obo/DOID_2350	obsolete iron overload				
http://purl.obolibrary.org/obo/DOID_2369	obsolete diabetes mellitus insulin dependent type not stated as uncontrolled with renal manifestations				
http://purl.obolibrary.org/obo/DOID_237	obsolete adhesions and disruptions of iris and ciliary body				
http://purl.obolibrary.org/obo/DOID_2370	obsolete diabetic nephropathy				
http://purl.obolibrary.org/obo/DOID_2376	obsolete chronic progressive multiple sclerosis				
http://purl.obolibrary.org/obo/DOID_2385	obsolete thiamine deficiency				
http://purl.obolibrary.org/obo/DOID_2389	obsolete fibromuscular dysplasia				
http://purl.obolibrary.org/obo/DOID_239	obsolete iridodialysis				
http://purl.obolibrary.org/obo/DOID_2399	obsolete ovarian clear cell neoplasm				
http://purl.obolibrary.org/obo/DOID_2402	obsolete lymphangiectasis				
http://purl.obolibrary.org/obo/DOID_2412	obsolete skin tumor of neural origin				
http://purl.obolibrary.org/obo/DOID_2413	obsolete epithelioid and spindle cell nevus				
http://purl.obolibrary.org/obo/DOID_2415	obsolete benign skin melanocytic nevus				
http://purl.obolibrary.org/obo/DOID_2417	obsolete melanocytic nevus				
http://purl.obolibrary.org/obo/DOID_2421	obsolete skin fibrous tissue neoplasm				
http://purl.obolibrary.org/obo/DOID_2423	obsolete halo nevus				
http://purl.obolibrary.org/obo/DOID_2424	obsolete intradermal nevus				
http://purl.obolibrary.org/obo/DOID_2434	obsolete intraepidermal nevus				
http://purl.obolibrary.org/obo/DOID_2437	obsolete skin compound nevus				
http://purl.obolibrary.org/obo/DOID_2446	obsolete gigantism				
http://purl.obolibrary.org/obo/DOID_2467	obsolete reactive confusion				
http://purl.obolibrary.org/obo/DOID_2469	obsolete swine erysipelas				
http://purl.obolibrary.org/obo/DOID_2470	obsolete Erysipelothrix infectious disease				
http://purl.obolibrary.org/obo/DOID_2471	obsolete Erysipelothrix rhusiopathiae infectious disease				
http://purl.obolibrary.org/obo/DOID_2487	obsolete hypercholesterolemia				
http://purl.obolibrary.org/obo/DOID_2492	obsolete hereditary peripheral neuropathy				
http://purl.obolibrary.org/obo/DOID_250	obsolete chronic brain damage				
http://purl.obolibrary.org/obo/DOID_2514	obsolete meningococcal optic neuritis				
http://purl.obolibrary.org/obo/DOID_2515	obsolete meningococcal infectious disease				
http://purl.obolibrary.org/obo/DOID_2524	obsolete abnormal glucose tolerance in mother complicating pregnancy childbirth and/or puerperium				
http://purl.obolibrary.org/obo/DOID_2545	obsolete congenital epilepsy				
http://purl.obolibrary.org/obo/DOID_2546	obsolete atonic epilepsy				
http://purl.obolibrary.org/obo/DOID_2547	obsolete intractable epilepsy				
http://purl.obolibrary.org/obo/DOID_2549	obsolete aggravated epilepsy				
http://purl.obolibrary.org/obo/DOID_2551	obsolete anosognostic epilepsy				
http://purl.obolibrary.org/obo/DOID_2563	obsolete Serratia septicemia				
http://purl.obolibrary.org/obo/DOID_2567	obsolete primary Enterobacteriaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_2573	obsolete drug-induced delirium				
http://purl.obolibrary.org/obo/DOID_2574	obsolete diabetes mellitus insulin dependent type uncontrolled with renal manifestations				
http://purl.obolibrary.org/obo/DOID_2584	obsolete nephrotic syndrome with lesion of endothelial glomerulonephritis				
http://purl.obolibrary.org/obo/DOID_2585	obsolete nephrotic syndrome with lesion of segmental hyalinosis				
http://purl.obolibrary.org/obo/DOID_2586	obsolete nephrotic syndrome with lesion of hypocomplementemic glomerulonephritis				
http://purl.obolibrary.org/obo/DOID_2587	obsolete nephrotic syndrome with lesion of mesangiocapillary glomerulonephritis				
http://purl.obolibrary.org/obo/DOID_2588	obsolete nephrotic syndrome with lesion of persistent glomerulonephritis				
http://purl.obolibrary.org/obo/DOID_2589	obsolete nephrotic syndrome with lesion of membranous glomerulonephritis				
http://purl.obolibrary.org/obo/DOID_259	obsolete abortion complicated by embolism				
http://purl.obolibrary.org/obo/DOID_2591	obsolete nephrotic syndrome with lesion of lobular glomerulonephritis				
http://purl.obolibrary.org/obo/DOID_2592	obsolete nephrotic syndrome with lesion of focal glomerulosclerosis				
http://purl.obolibrary.org/obo/DOID_2620	obsolete ductal, lobular, and medullary neoplasm				
http://purl.obolibrary.org/obo/DOID_2622	obsolete neuroblastic tumor				
http://purl.obolibrary.org/obo/DOID_2623	obsolete neuronal and glio-neuronal neoplasm				
http://purl.obolibrary.org/obo/DOID_2629	obsolete papillary serous cystadenoma				
http://purl.obolibrary.org/obo/DOID_2630	obsolete papillary cystadenoma				
http://purl.obolibrary.org/obo/DOID_2631	obsolete serous cystadenoma				
http://purl.obolibrary.org/obo/DOID_2633	obsolete mucinous cystadenoma				
http://purl.obolibrary.org/obo/DOID_2635	obsolete mucinous neoplasm				
http://purl.obolibrary.org/obo/DOID_2642	obsolete lymphangiomyoma				
http://purl.obolibrary.org/obo/DOID_2651	obsolete intraductal papillomatosis				
http://purl.obolibrary.org/obo/DOID_2654	obsolete serous neoplasm				
http://purl.obolibrary.org/obo/DOID_266	obsolete malignant soft tissue neoplasm of the spleen				
http://purl.obolibrary.org/obo/DOID_2667	obsolete benign mesenchymoma				
http://purl.obolibrary.org/obo/DOID_2676	obsolete papillary pseudomucinous cystadenoma				
http://purl.obolibrary.org/obo/DOID_2680	obsolete pediatric central nervous system tumor				
http://purl.obolibrary.org/obo/DOID_2681	obsolete nevus				
http://purl.obolibrary.org/obo/DOID_2699	obsolete sinonasal papilloma				
http://purl.obolibrary.org/obo/DOID_2724	obsolete port-wine stain				
http://purl.obolibrary.org/obo/DOID_2726	obsolete acne nevus				
http://purl.obolibrary.org/obo/DOID_2728	obsolete Pilosebaceous hamartoma				
http://purl.obolibrary.org/obo/DOID_2737	obsolete Witkop-Von Sallmann disease				
http://purl.obolibrary.org/obo/DOID_2753	obsolete nervous system lysosomal storage disease				
http://purl.obolibrary.org/obo/DOID_2756	obsolete paratuberculosis				
http://purl.obolibrary.org/obo/DOID_2757	obsolete Mycobacterium infectious disease				
http://purl.obolibrary.org/obo/DOID_2770	obsolete diaper rash				
http://purl.obolibrary.org/obo/DOID_2771	obsolete atopic dermatitis and related conditions				
http://purl.obolibrary.org/obo/DOID_2777	obsolete malignant neoplasm of short bones of upper limb				
http://purl.obolibrary.org/obo/DOID_2778	obsolete tumors of body of uterus, with delivery				
http://purl.obolibrary.org/obo/DOID_2779	obsolete tumors of body of uterus complicating pregnancy, childbirth, or the puerperium				
http://purl.obolibrary.org/obo/DOID_280	obsolete ear tuberculosis				
http://purl.obolibrary.org/obo/DOID_2809	obsolete primary Bartonellaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_283	obsolete leukemic reticuloendotheliosis of intra-abdominal lymph nodes				
http://purl.obolibrary.org/obo/DOID_284	obsolete malignant neoplasm of abdomen				
http://purl.obolibrary.org/obo/DOID_2848	obsolete melancholia				
http://purl.obolibrary.org/obo/DOID_2853	obsolete atrophy of thyroid				
http://purl.obolibrary.org/obo/DOID_2857	obsolete abscess of thyroid				
http://purl.obolibrary.org/obo/DOID_287	obsolete vision disorder				
http://purl.obolibrary.org/obo/DOID_2873	obsolete metastatic tumor to the larynx				
http://purl.obolibrary.org/obo/DOID_2874	obsolete metastasis to the neck				
http://purl.obolibrary.org/obo/DOID_2878	obsolete throat carcinoma				
http://purl.obolibrary.org/obo/DOID_2882	obsolete Cysts of iris, ciliary body and anterior chamber				
http://purl.obolibrary.org/obo/DOID_2890	obsolete primary Klebsiella infectious disease				
http://purl.obolibrary.org/obo/DOID_2898	obsolete commensal streptococcal infectious disease				
http://purl.obolibrary.org/obo/DOID_2905	obsolete commensal Escherichia coli infectious disease				
http://purl.obolibrary.org/obo/DOID_2910	obsolete septic abortion				
http://purl.obolibrary.org/obo/DOID_2956	obsolete intra-abdominal lymphangioma				
http://purl.obolibrary.org/obo/DOID_2958	obsolete environmental illness				
http://purl.obolibrary.org/obo/DOID_2974	obsolete multicystic dysplastic kidney				
http://purl.obolibrary.org/obo/DOID_2976	obsolete glomerular vascular disorder				
http://purl.obolibrary.org/obo/DOID_2980	obsolete bone marrow tansplantation nephropathy				
http://purl.obolibrary.org/obo/DOID_2985	obsolete chronic rejection of renal transplant				
http://purl.obolibrary.org/obo/DOID_2989	obsolete Atypical small acinar proliferation of the prostate gland				
http://purl.obolibrary.org/obo/DOID_2990	obsolete tumor of specialized prostatic stroma				
http://purl.obolibrary.org/obo/DOID_2991	obsolete stromal neoplasm				
http://purl.obolibrary.org/obo/DOID_2995	obsolete ovarian mixed germ cell-sex cord neoplasm				
http://purl.obolibrary.org/obo/DOID_3015	obsolete breast papillary neoplasm				
http://purl.obolibrary.org/obo/DOID_3019	obsolete postpartum acute renal failure				
http://purl.obolibrary.org/obo/DOID_3020	obsolete Complication of labor and/or delivery				
http://purl.obolibrary.org/obo/DOID_3022	obsolete complication of the puerperium				
http://purl.obolibrary.org/obo/DOID_3026	obsolete metastatic prostatic adenocarcinoma				
http://purl.obolibrary.org/obo/DOID_3027	obsolete metastatic adenocarcinoma				
http://purl.obolibrary.org/obo/DOID_3028	obsolete intramucosal adenocarcinoma colon adenoma				
http://purl.obolibrary.org/obo/DOID_306	obsolete dyskinetic syndrome				
http://purl.obolibrary.org/obo/DOID_3067	obsolete taste disorder				
http://purl.obolibrary.org/obo/DOID_3072	obsolete secondary glioblastoma multiforme				
http://purl.obolibrary.org/obo/DOID_3077	obsolete anaplastic childhood astrocytoma				
http://purl.obolibrary.org/obo/DOID_3090	obsolete testicular non-neoplastic disease				
http://purl.obolibrary.org/obo/DOID_3092	obsolete opportunistic Moraxellaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_3094	obsolete neuroepithelial neoplasm				
http://purl.obolibrary.org/obo/DOID_3097	obsolete stenosis and insufficiency of lacrimal passage				
http://purl.obolibrary.org/obo/DOID_3100	obsolete Ureaplasma urealyticum urethritis				
http://purl.obolibrary.org/obo/DOID_3101	obsolete primary Mycoplasmatales infectious disease				
http://purl.obolibrary.org/obo/DOID_3102	obsolete cervical rib syndrome				
http://purl.obolibrary.org/obo/DOID_3115	obsolete urinary tract transitional cell cancer				
http://purl.obolibrary.org/obo/DOID_313	obsolete synovitis and tenosynovitis				
http://purl.obolibrary.org/obo/DOID_3137	obsolete multiple symmetrical lipomatosis				
http://purl.obolibrary.org/obo/DOID_3143	obsolete eczematous skin disease				
http://purl.obolibrary.org/obo/DOID_3157	obsolete congenital melanocytic nevus				
http://purl.obolibrary.org/obo/DOID_3164	obsolete Hair nevus				
http://purl.obolibrary.org/obo/DOID_3166	obsolete leukemoid reaction				
http://purl.obolibrary.org/obo/DOID_3169	obsolete papillary epithelial neoplasm				
http://purl.obolibrary.org/obo/DOID_3171	obsolete respiratory tract papilloma				
http://purl.obolibrary.org/obo/DOID_3208	obsolete sensation disorder				
http://purl.obolibrary.org/obo/DOID_3212	obsolete hereditary central nervous system demyelinating disease				
http://purl.obolibrary.org/obo/DOID_3217	obsolete small intestinal delta cell somatostatin producing tumor				
http://purl.obolibrary.org/obo/DOID_3231	obsolete occupational disease				
http://purl.obolibrary.org/obo/DOID_3239	obsolete pigmented spindle cell nevus				
http://purl.obolibrary.org/obo/DOID_3256	obsolete embryonal childhood rhabdomyosarcoma				
http://purl.obolibrary.org/obo/DOID_3257	obsolete pediatric rhabdomyosarcoma				
http://purl.obolibrary.org/obo/DOID_3276	obsolete thymus epithelial cancer				
http://purl.obolibrary.org/obo/DOID_3299	obsolete Yersinia pseudotuberculosis infectious disease				
http://purl.obolibrary.org/obo/DOID_3300	obsolete Yersinia infectious disease				
http://purl.obolibrary.org/obo/DOID_333	obsolete chronic factitious illness with physical symptoms				
http://purl.obolibrary.org/obo/DOID_3340	obsolete lymphangioendothelioma				
http://purl.obolibrary.org/obo/DOID_3349	obsolete osteogenic neoplasm				
http://purl.obolibrary.org/obo/DOID_3359	obsolete malignant extraskeletal cartilaginous and osseous tumor				
http://purl.obolibrary.org/obo/DOID_336	obsolete non-traumatic tendon rupture				
http://purl.obolibrary.org/obo/DOID_3365	obsolete recurrent osteosarcoma				
http://purl.obolibrary.org/obo/DOID_3378	obsolete conventional central osteosarcoma				
http://purl.obolibrary.org/obo/DOID_3384	obsolete metastatic osteosarcoma				
http://purl.obolibrary.org/obo/DOID_3402	obsolete ectopic hormone secretion syndrome associated with neoplasia				
http://purl.obolibrary.org/obo/DOID_3403	obsolete hypergammaglobulinemia				
http://purl.obolibrary.org/obo/DOID_3404	obsolete benign monoclonal gammopathy				
http://purl.obolibrary.org/obo/DOID_3414	obsolete mannosidase deficiency disease				
http://purl.obolibrary.org/obo/DOID_3420	obsolete neoplasm of visual pathway				
http://purl.obolibrary.org/obo/DOID_3461	obsolete breast hamartoma				
http://purl.obolibrary.org/obo/DOID_3464	obsolete hamartoma of skin appendage				
http://purl.obolibrary.org/obo/DOID_3465	obsolete congenital nevus of skin				
http://purl.obolibrary.org/obo/DOID_3466	obsolete cartilaginous hamartoma				
http://purl.obolibrary.org/obo/DOID_3467	obsolete mesenchymal hamartoma				
http://purl.obolibrary.org/obo/DOID_3470	obsolete hamartoma of central nervous system				
http://purl.obolibrary.org/obo/DOID_3472	obsolete hamartoma of lung				
http://purl.obolibrary.org/obo/DOID_3473	obsolete brain hamartoma				
http://purl.obolibrary.org/obo/DOID_3476	obsolete Lipomatous hamartoma				
http://purl.obolibrary.org/obo/DOID_3487	obsolete metabolic skin disease				
http://purl.obolibrary.org/obo/DOID_3519	obsolete non-metastatic fibrosarcoma				
http://purl.obolibrary.org/obo/DOID_3546	obsolete somatosensory disorder				
http://purl.obolibrary.org/obo/DOID_356	obsolete intrathoracic lymph node mast cell malignancy				
http://purl.obolibrary.org/obo/DOID_357	obsolete upper limb lymph node mast cell malignancy				
http://purl.obolibrary.org/obo/DOID_3580	obsolete testicular mixed germ cell-sex cord-stromal neoplasm				
http://purl.obolibrary.org/obo/DOID_3583	obsolete enterotoxemia				
http://purl.obolibrary.org/obo/DOID_3584	obsolete commensal Clostridium infectious disease				
http://purl.obolibrary.org/obo/DOID_3586	obsolete Puerperal pyrexia of unknown origin				
http://purl.obolibrary.org/obo/DOID_3589	obsolete Poor Prognosis metastatic Gestational Trophoblastic tumor				
http://purl.obolibrary.org/obo/DOID_3591	obsolete Nonmetastatic Gestational Trophoblastic tumor				
http://purl.obolibrary.org/obo/DOID_3597	obsolete Good Prognosis metastatic Gestational Trophoblastic tumor				
http://purl.obolibrary.org/obo/DOID_3621	obsolete central nervous system neuroepithelial neoplasm				
http://purl.obolibrary.org/obo/DOID_3636	obsolete commensal Desulfovibrionaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_364	obsolete spontaneous rupture of bladder				
http://purl.obolibrary.org/obo/DOID_3648	obsolete inborn errors pyruvate metabolism				
http://purl.obolibrary.org/obo/DOID_3653	obsolete laboratory infectious disease				
http://purl.obolibrary.org/obo/DOID_366	obsolete olfactory nerve neoplasm				
http://purl.obolibrary.org/obo/DOID_3680	obsolete malignant neoplasm of lip, oral cavity and pharynx				
http://purl.obolibrary.org/obo/DOID_3686	obsolete Helicobacter pylori infectious disease				
http://purl.obolibrary.org/obo/DOID_3694	obsolete adnexal mucinous adenocarcinoma				
http://purl.obolibrary.org/obo/DOID_3695	obsolete adnexa adenocarcinoma				
http://purl.obolibrary.org/obo/DOID_3726	obsolete puerperal disease				
http://purl.obolibrary.org/obo/DOID_373	obsolete infant nutrition disorder				
http://purl.obolibrary.org/obo/DOID_3731	obsolete primary Pasteurellaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_3758	obsolete Fusobacterium infectious disease				
http://purl.obolibrary.org/obo/DOID_3773	obsolete third ventricle chordoid glioma				
http://purl.obolibrary.org/obo/DOID_3810	obsolete chondrogenic neoplasm				
http://purl.obolibrary.org/obo/DOID_3812	obsolete mediastinum chondroma				
http://purl.obolibrary.org/obo/DOID_3820	obsolete primary Chlamydiaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_3836	obsolete posttransplantation lymphoproliferative disease				
http://purl.obolibrary.org/obo/DOID_3837	obsolete benign lymphoproliferative disease				
http://purl.obolibrary.org/obo/DOID_3838	obsolete skin lymphoproliferative disease				
http://purl.obolibrary.org/obo/DOID_3844	obsolete pediatric craniopharyngioma				
http://purl.obolibrary.org/obo/DOID_3845	obsolete childhood intracranial neoplasm				
http://purl.obolibrary.org/obo/DOID_3848	obsolete adult craniopharyngioma				
http://purl.obolibrary.org/obo/DOID_3849	obsolete adult intracranial neoplasm				
http://purl.obolibrary.org/obo/DOID_3859	obsolete relapsed medulloblastoma				
http://purl.obolibrary.org/obo/DOID_386	obsolete postpericardiotomy syndrome				
http://purl.obolibrary.org/obo/DOID_3862	obsolete FAP associated medulloblastoma				
http://purl.obolibrary.org/obo/DOID_3863	obsolete region 17p13 allelic loss associated medulloblastoma				
http://purl.obolibrary.org/obo/DOID_3866	obsolete desmoplastic medulloblastoma				
http://purl.obolibrary.org/obo/DOID_3867	obsolete nevoid basal cell carcinoma syndrome associated medulloblastoma				
http://purl.obolibrary.org/obo/DOID_3871	obsolete medulloblastoma with leptomeningeal spread				
http://purl.obolibrary.org/obo/DOID_3872	obsolete leptomeningeal metastases				
http://purl.obolibrary.org/obo/DOID_3878	obsolete intestinal pseudo-obstruction				
http://purl.obolibrary.org/obo/DOID_3881	obsolete Proteus infectious disease				
http://purl.obolibrary.org/obo/DOID_3898	obsolete skin appendage adenoma				
http://purl.obolibrary.org/obo/DOID_3899	obsolete skin appendage neoplasm				
http://purl.obolibrary.org/obo/DOID_390	obsolete venous problem				
http://purl.obolibrary.org/obo/DOID_3909	obsolete bronchogenic lung adenocarcinoma				
http://purl.obolibrary.org/obo/DOID_3914	obsolete serous cystadenoma of ovary				
http://purl.obolibrary.org/obo/DOID_3916	obsolete borderline malignancy serous cystadenoma				
http://purl.obolibrary.org/obo/DOID_3939	obsolete lipomatous cancer				
http://purl.obolibrary.org/obo/DOID_3968	obsolete papillary follicular thyroid adenocarcinoma				
http://purl.obolibrary.org/obo/DOID_3974	obsolete medullary carcinoma				
http://purl.obolibrary.org/obo/DOID_398	obsolete cutaneous tuberculosis				
http://purl.obolibrary.org/obo/DOID_3997	obsolete urinary tract infiltrating transitional cell carcinoma				
http://purl.obolibrary.org/obo/DOID_4009	obsolete renal pelvis and ureter transitional cell cancer				
http://purl.obolibrary.org/obo/DOID_4010	obsolete renal pelvis and ureter cancer				
http://purl.obolibrary.org/obo/DOID_4020	obsolete psychomotor disease				
http://purl.obolibrary.org/obo/DOID_4025	obsolete steatitis				
http://purl.obolibrary.org/obo/DOID_4026	obsolete vitamin E deficiency				
http://purl.obolibrary.org/obo/DOID_4027	obsolete fetal distress				
http://purl.obolibrary.org/obo/DOID_4039	obsolete Crohn's associated gastritis				
http://purl.obolibrary.org/obo/DOID_4052	obsolete rhabdomyosarcoma recurrent				
http://purl.obolibrary.org/obo/DOID_4056	obsolete adult rhabdomyosarcoma				
http://purl.obolibrary.org/obo/DOID_4076	obsolete pleomorphic adenoma of the breast				
http://purl.obolibrary.org/obo/DOID_4077	obsolete metastasizing mixed tumor of salivary gland				
http://purl.obolibrary.org/obo/DOID_4099	obsolete metastatic squamous cell carcinoma				
http://purl.obolibrary.org/obo/DOID_410	obsolete tuberculous ascites				
http://purl.obolibrary.org/obo/DOID_4102	obsolete secondary carcinoma				
http://purl.obolibrary.org/obo/DOID_4106	obsolete commensal Bacteroidaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_4107	obsolete primary Flavobacteriaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_411	obsolete bovine tuberculosis				
http://purl.obolibrary.org/obo/DOID_412	obsolete atypical Mycobacterium infectious disease				
http://purl.obolibrary.org/obo/DOID_414	obsolete cardiovascular tuberculosis				
http://purl.obolibrary.org/obo/DOID_4142	obsolete meningioma by site				
http://purl.obolibrary.org/obo/DOID_4144	obsolete herpes zoster dermatitis				
http://purl.obolibrary.org/obo/DOID_4161	obsolete relapsed neuroblastoma				
http://purl.obolibrary.org/obo/DOID_4165	obsolete regional neuroblastoma				
http://purl.obolibrary.org/obo/DOID_4170	obsolete localized resectable neuroblastoma				
http://purl.obolibrary.org/obo/DOID_4172	obsolete localized unresectable neuroblastoma				
http://purl.obolibrary.org/obo/DOID_4173	obsolete disseminated neuroblastoma				
http://purl.obolibrary.org/obo/DOID_4200	obsolete commensal Bifidobacteriales infectious disease				
http://purl.obolibrary.org/obo/DOID_4228	obsolete stromal sarcoma				
http://purl.obolibrary.org/obo/DOID_4238	obsolete malignant soft tissue neoplasm of central nervous system				
http://purl.obolibrary.org/obo/DOID_4240	obsolete malignant miscellaneous mesenchymal tumor				
http://purl.obolibrary.org/obo/DOID_4245	obsolete extraskeletal cartilaginous and osseous tumor				
http://purl.obolibrary.org/obo/DOID_4246	obsolete malignant mediastinal mesenchymal tumor				
http://purl.obolibrary.org/obo/DOID_425	obsolete certain conditions originating in the perinatal period				
http://purl.obolibrary.org/obo/DOID_4256	obsolete rheumatism				
http://purl.obolibrary.org/obo/DOID_4263	obsolete drug-induced akathisia				
http://purl.obolibrary.org/obo/DOID_4285	obsolete complications of pregnancy, childbirth and the puerperium				
http://purl.obolibrary.org/obo/DOID_4298	obsolete respiratory system abnormality				
http://purl.obolibrary.org/obo/DOID_433	obsolete Intraventricular hemorrhage from any perinatal cause				
http://purl.obolibrary.org/obo/DOID_4332	obsolete familial hypophosphatemia				
http://purl.obolibrary.org/obo/DOID_434	obsolete anterior mediastinum cancer				
http://purl.obolibrary.org/obo/DOID_4349	obsolete complications occurring mainly in the course of labor and delivery				
http://purl.obolibrary.org/obo/DOID_435	obsolete malignant neoplasm of thymus, heart and mediastinum				
http://purl.obolibrary.org/obo/DOID_4350	obsolete bovine anaplasmosis				
http://purl.obolibrary.org/obo/DOID_4351	obsolete primary Anaplasmataceae infectious disease				
http://purl.obolibrary.org/obo/DOID_4356	obsolete regressing malignant melanoma				
http://purl.obolibrary.org/obo/DOID_4357	obsolete experimental melanoma				
http://purl.obolibrary.org/obo/DOID_4358	obsolete metastatic melanoma				
http://purl.obolibrary.org/obo/DOID_4369	obsolete brain hypoxia-Ischemia				
http://purl.obolibrary.org/obo/DOID_4375	obsolete agricultural workers' disease				
http://purl.obolibrary.org/obo/DOID_4381	obsolete conventional alveolar rhabdomyosarcoma				
http://purl.obolibrary.org/obo/DOID_4383	obsolete solid alveolar rhabdomyosarcoma				
http://purl.obolibrary.org/obo/DOID_4387	obsolete recurrent peripheral primitive neuroectodermal tumor				
http://purl.obolibrary.org/obo/DOID_4403	obsolete cervical glandular tumor				
http://purl.obolibrary.org/obo/DOID_4410	obsolete contact dermatitis due to arnica				
http://purl.obolibrary.org/obo/DOID_4425	obsolete lipogranuloma				
http://purl.obolibrary.org/obo/DOID_4443	obsolete cervical soft tissue tumor				
http://purl.obolibrary.org/obo/DOID_4445	obsolete arachnoid cyst				
http://purl.obolibrary.org/obo/DOID_4446	obsolete central nervous system cyst				
http://purl.obolibrary.org/obo/DOID_4452	obsolete recurrent renal cell carcinoma				
http://purl.obolibrary.org/obo/DOID_4478	obsolete drug-Induced dyskinesia				
http://purl.obolibrary.org/obo/DOID_448	obsolete facial neoplasm				
http://purl.obolibrary.org/obo/DOID_449	obsolete head neoplasm				
http://purl.obolibrary.org/obo/DOID_4496	obsolete metastatic malignant neoplasm to the cervix				
http://purl.obolibrary.org/obo/DOID_4499	obsolete child nutrition disorder				
http://purl.obolibrary.org/obo/DOID_4502	obsolete relapsed angiosarcoma				
http://purl.obolibrary.org/obo/DOID_4509	obsolete angiosarcoma associated with lymphedema				
http://purl.obolibrary.org/obo/DOID_4539	obsolete labyrinthine disease				
http://purl.obolibrary.org/obo/DOID_4582	obsolete metastatic meningioma				
http://purl.obolibrary.org/obo/DOID_4583	obsolete deletion of short arm of chromosome 1 (1p) associated meningioma				
http://purl.obolibrary.org/obo/DOID_4585	obsolete relapsed meningioma				
http://purl.obolibrary.org/obo/DOID_4589	obsolete deletion of chromosome 22 associated meningioma				
http://purl.obolibrary.org/obo/DOID_4590	obsolete multiple meningiomas				
http://purl.obolibrary.org/obo/DOID_4595	obsolete adult meningioma				
http://purl.obolibrary.org/obo/DOID_4596	obsolete central nervous system adult tumor				
http://purl.obolibrary.org/obo/DOID_4598	obsolete deletion of chromosome 3p associated meningioma				
http://purl.obolibrary.org/obo/DOID_4615	obsolete carcinoma of unknown primary				
http://purl.obolibrary.org/obo/DOID_4625	obsolete enchondromatosis				
http://purl.obolibrary.org/obo/DOID_4631	obsolete inverted papilloma of paranasal sinus				
http://purl.obolibrary.org/obo/DOID_4641	obsolete Bacteroides infectious disease				
http://purl.obolibrary.org/obo/DOID_4655	obsolete relapsed retinoblastoma				
http://purl.obolibrary.org/obo/DOID_4665	obsolete superficial keratitis without conjunctivitis				
http://purl.obolibrary.org/obo/DOID_4684	obsolete skin appendage carcinoma				
http://purl.obolibrary.org/obo/DOID_4694	obsolete malignant peripheral nerve neoplasm				
http://purl.obolibrary.org/obo/DOID_4700	obsolete bathing trunk nevus				
http://purl.obolibrary.org/obo/DOID_4705	obsolete childhood brain tumor				
http://purl.obolibrary.org/obo/DOID_4711	obsolete krebs 2 carcinoma				
http://purl.obolibrary.org/obo/DOID_4712	obsolete gastric mesenchymal neoplasm				
http://purl.obolibrary.org/obo/DOID_4714	obsolete obstetrical pelvic hematoma				
http://purl.obolibrary.org/obo/DOID_4725	obsolete neck neoplasm				
http://purl.obolibrary.org/obo/DOID_4726	obsolete Anterior synechiae				
http://purl.obolibrary.org/obo/DOID_4727	obsolete adhesions of iris				
http://purl.obolibrary.org/obo/DOID_4738	obsolete Iris or ciliary body disorder				
http://purl.obolibrary.org/obo/DOID_4742	obsolete mixed embryonal carcinoma and teratoma of the testis				
http://purl.obolibrary.org/obo/DOID_4746	obsolete olfaction disorder				
http://purl.obolibrary.org/obo/DOID_4748	obsolete childhood supratentorial neoplasm				
http://purl.obolibrary.org/obo/DOID_4758	obsolete peripheral anterior synechiae				
http://purl.obolibrary.org/obo/DOID_478	obsolete breast vascular neoplasm				
http://purl.obolibrary.org/obo/DOID_4786	obsolete primitive neuroectodermal tumor with Leptomeningeal Spread				
http://purl.obolibrary.org/obo/DOID_4794	obsolete embryonal Tumor with Multilayered Rosettes, C19MC-Altered				
http://purl.obolibrary.org/obo/DOID_4799	obsolete AIDS-related idiopathic thrombocytopenic purpura				
http://purl.obolibrary.org/obo/DOID_4800	obsolete iris vascular disorder				
http://purl.obolibrary.org/obo/DOID_481	obsolete central nervous system hereditary degenerative disease				
http://purl.obolibrary.org/obo/DOID_4814	obsolete ganglioneuroma of the retroperitoneum				
http://purl.obolibrary.org/obo/DOID_4816	obsolete maturing ganglioneuroma				
http://purl.obolibrary.org/obo/DOID_4818	obsolete lung occult non-small cell carcinoma				
http://purl.obolibrary.org/obo/DOID_4819	obsolete lung occult carcinoma				
http://purl.obolibrary.org/obo/DOID_4828	obsolete metastatic lung carcinoma				
http://purl.obolibrary.org/obo/DOID_4831	obsolete spleen mast cell malignancy				
http://purl.obolibrary.org/obo/DOID_4832	obsolete non small cell lung cancer recurrent				
http://purl.obolibrary.org/obo/DOID_4833	obsolete recurrent lung carcinoma				
http://purl.obolibrary.org/obo/DOID_4841	obsolete malignant tumor of epidermal appendage				
http://purl.obolibrary.org/obo/DOID_4850	obsolete glioma of visual pathway				
http://purl.obolibrary.org/obo/DOID_488	obsolete malignant bone vascular tumor				
http://purl.obolibrary.org/obo/DOID_4882	obsolete pediatric soft part clear cell sarcoma				
http://purl.obolibrary.org/obo/DOID_4884	obsolete peritoneal neoplasm				
http://purl.obolibrary.org/obo/DOID_4898	obsolete adenocarcinoma in a polyp				
http://purl.obolibrary.org/obo/DOID_4900	obsolete mixed cell adenocarcinoma				
http://purl.obolibrary.org/obo/DOID_4904	obsolete intestinal type carcinoma				
http://purl.obolibrary.org/obo/DOID_4911	obsolete superficial spreading adenocarcinoma				
http://purl.obolibrary.org/obo/DOID_4912	obsolete disseminated adenocarcinoma				
http://purl.obolibrary.org/obo/DOID_4935	obsolete acidophil carcinoma				
http://purl.obolibrary.org/obo/DOID_4936	obsolete mixed eosinophil-basophil carcinoma				
http://purl.obolibrary.org/obo/DOID_4937	obsolete oxyphilic adenocarcinoma				
http://purl.obolibrary.org/obo/DOID_4942	obsolete combined hepatocellular carcinoma and cholangiocarcinoma				
http://purl.obolibrary.org/obo/DOID_4956	obsolete leptomeningeal neoplasm				
http://purl.obolibrary.org/obo/DOID_4966	obsolete adrenocortical hyperplasia				
http://purl.obolibrary.org/obo/DOID_4967	obsolete adrenal hyperplasia				
http://purl.obolibrary.org/obo/DOID_4975	obsolete Actinobacillus infectious disease				
http://purl.obolibrary.org/obo/DOID_4978	obsolete Ewing's family recurrent tumor				
http://purl.obolibrary.org/obo/DOID_4979	obsolete recurrent primitive neuroectodermal tumor				
http://purl.obolibrary.org/obo/DOID_4982	obsolete metastatic Ewing's sarcoma				
http://purl.obolibrary.org/obo/DOID_4983	obsolete metastatic Ewing's sarcoma/peripheral primitive neuroectodermal tumor				
http://purl.obolibrary.org/obo/DOID_4987	obsolete recurrent Ewing's sarcoma				
http://purl.obolibrary.org/obo/DOID_4999	obsolete syphilitic alopecia				
http://purl.obolibrary.org/obo/DOID_5000	obsolete cutaneous syphilis				
http://purl.obolibrary.org/obo/DOID_5006	obsolete adult primary liver cancer				
http://purl.obolibrary.org/obo/DOID_5007	obsolete resectable hepatocellular carcinoma				
http://purl.obolibrary.org/obo/DOID_5017	obsolete hepatitis virus related hepatocellular carcinoma				
http://purl.obolibrary.org/obo/DOID_5019	obsolete non-resectable hepatocellular carcinoma				
http://purl.obolibrary.org/obo/DOID_5027	obsolete recurrent hepatocellular carcinoma				
http://purl.obolibrary.org/obo/DOID_5028	obsolete recurrent cancer of Liver				
http://purl.obolibrary.org/obo/DOID_5053	obsolete primary Burkholderia infectious disease				
http://purl.obolibrary.org/obo/DOID_5055	obsolete neuronal and mixed neuronal-glial tumor of cerebellum				
http://purl.obolibrary.org/obo/DOID_5069	obsolete uterine corpus soft tissue neoplasm				
http://purl.obolibrary.org/obo/DOID_5070	obsolete neoplasm of body of uterus				
http://purl.obolibrary.org/obo/DOID_5071	obsolete central nervous system soft tissue neoplasm				
http://purl.obolibrary.org/obo/DOID_5072	obsolete meninges gliomatosis				
http://purl.obolibrary.org/obo/DOID_5073	obsolete malignant neoplasm of meninges				
http://purl.obolibrary.org/obo/DOID_5097	obsolete axillary cancer				
http://purl.obolibrary.org/obo/DOID_5107	obsolete achromic nevus				
http://purl.obolibrary.org/obo/DOID_5116	obsolete central nervous system dermoid cyst				
http://purl.obolibrary.org/obo/DOID_5133	obsolete skin tumor of smooth muscle origin				
http://purl.obolibrary.org/obo/DOID_5205	obsolete inborn errors fructose metabolism				
http://purl.obolibrary.org/obo/DOID_5226	obsolete vaginal blue nevus				
http://purl.obolibrary.org/obo/DOID_5227	obsolete cellular blue nevus				
http://purl.obolibrary.org/obo/DOID_5228	obsolete common blue nevus				
http://purl.obolibrary.org/obo/DOID_5231	obsolete peritoneal and retroperitoneal tumors				
http://purl.obolibrary.org/obo/DOID_5239	obsolete glomus tumor of uncertain malignant potential				
http://purl.obolibrary.org/obo/DOID_5242	obsolete resectable cholangiocellular carcinoma				
http://purl.obolibrary.org/obo/DOID_5244	obsolete visual alteration				
http://purl.obolibrary.org/obo/DOID_5245	obsolete recurrent cholangiocellular carcinoma				
http://purl.obolibrary.org/obo/DOID_5246	obsolete hilar cholangiocellular carcinoma				
http://purl.obolibrary.org/obo/DOID_5247	obsolete liver fluke-related cholangiocarcinoma				
http://purl.obolibrary.org/obo/DOID_5248	obsolete parasite-related carcinoma				
http://purl.obolibrary.org/obo/DOID_5250	obsolete non-resectable cholangiocellular carcinoma				
http://purl.obolibrary.org/obo/DOID_5252	obsolete leiomyosarcoma recurrent				
http://purl.obolibrary.org/obo/DOID_5255	obsolete leiomyosarcoma nonmetastatic				
http://purl.obolibrary.org/obo/DOID_5266	obsolete leiomyosarcoma metastatic				
http://purl.obolibrary.org/obo/DOID_5278	obsolete pediatric leiomyosarcoma				
http://purl.obolibrary.org/obo/DOID_5281	obsolete malignant mesenchymal neoplasm of the stomach				
http://purl.obolibrary.org/obo/DOID_5290	obsolete uterine corpus smooth muscle neoplasm				
http://purl.obolibrary.org/obo/DOID_5291	obsolete adult leiomyosarcoma				
http://purl.obolibrary.org/obo/DOID_5294	obsolete vessel leiomyosarcoma				
http://purl.obolibrary.org/obo/DOID_5305	obsolete malignant ovarian clear cell neoplasm				
http://purl.obolibrary.org/obo/DOID_5312	obsolete miscellaneous mesenchymal neoplasm				
http://purl.obolibrary.org/obo/DOID_5323	obsolete fallopian tube serous tumor				
http://purl.obolibrary.org/obo/DOID_5326	obsolete Partial recent retinal detachment with single defect				
http://purl.obolibrary.org/obo/DOID_5328	obsolete retinal detachment and defect				
http://purl.obolibrary.org/obo/DOID_5335	obsolete renal neoplasm with t(6;11)(p21;q12)				
http://purl.obolibrary.org/obo/DOID_534	obsolete persistent disorder of initiating or maintaining wakefulness				
http://purl.obolibrary.org/obo/DOID_5346	obsolete mediastinal endodermal sinus tumor				
http://purl.obolibrary.org/obo/DOID_5347	obsolete mediastinal non-seminomatous germ cell cancer				
http://purl.obolibrary.org/obo/DOID_5354	obsolete lung PAP-AD				
http://purl.obolibrary.org/obo/DOID_5355	obsolete mucinous bronchioloalveolar lung carcinoma				
http://purl.obolibrary.org/obo/DOID_5358	obsolete non-mucinous bronchioloalveolar lung carcinoma				
http://purl.obolibrary.org/obo/DOID_5359	obsolete pure BAC				
http://purl.obolibrary.org/obo/DOID_536	obsolete persistent disorder of initiating or maintaining sleep				
http://purl.obolibrary.org/obo/DOID_5360	obsolete AD-BAC				
http://purl.obolibrary.org/obo/DOID_5361	obsolete mixed mucinous and non-mucinous bronchioloalveolar lung carcinoma				
http://purl.obolibrary.org/obo/DOID_5380	obsolete lupus vulgaris				
http://purl.obolibrary.org/obo/DOID_5397	obsolete ductal adenoma				
http://purl.obolibrary.org/obo/DOID_5400	obsolete trabecular adenoma				
http://purl.obolibrary.org/obo/DOID_5404	obsolete atypical adenoma				
http://purl.obolibrary.org/obo/DOID_541	obsolete convergence insufficiency or palsy				
http://purl.obolibrary.org/obo/DOID_5416	obsolete recurrent small cell lung cancer				
http://purl.obolibrary.org/obo/DOID_5422	obsolete combined carcinoma of lung				
http://purl.obolibrary.org/obo/DOID_5423	obsolete central nervous system hemangioblastoma				
http://purl.obolibrary.org/obo/DOID_5430	obsolete intraurothelial neoplasia				
http://purl.obolibrary.org/obo/DOID_5455	obsolete pulmonary vascular disorder				
http://purl.obolibrary.org/obo/DOID_5456	obsolete spinal vascular disorder				
http://purl.obolibrary.org/obo/DOID_5461	obsolete primary Mycoplasma infectious disease				
http://purl.obolibrary.org/obo/DOID_5472	obsolete tumor of the thecoma fibroma group				
http://purl.obolibrary.org/obo/DOID_548	obsolete malignant hypertensive heart disease				
http://purl.obolibrary.org/obo/DOID_5486	obsolete metastatic synovial sarcoma				
http://purl.obolibrary.org/obo/DOID_5491	obsolete pediatric synovial sarcoma				
http://purl.obolibrary.org/obo/DOID_5493	obsolete recurrent synovial sarcoma				
http://purl.obolibrary.org/obo/DOID_5496	obsolete nonmetastatic synovial sarcoma				
http://purl.obolibrary.org/obo/DOID_5549	obsolete CNS choriocarcinoma				
http://purl.obolibrary.org/obo/DOID_5552	obsolete mediastinum choriocarcinoma				
http://purl.obolibrary.org/obo/DOID_5562	obsolete dermoid cyst with malignant transformation				
http://purl.obolibrary.org/obo/DOID_5575	obsolete delayed puberty				
http://purl.obolibrary.org/obo/DOID_5578	obsolete small intestinal gastrinoma				
http://purl.obolibrary.org/obo/DOID_558	obsolete acute pyelonephritis without lesion of renal medullary necrosis				
http://purl.obolibrary.org/obo/DOID_5594	obsolete intraductal papillary adenocarcinoma with invasion				
http://purl.obolibrary.org/obo/DOID_5599	obsolete precursor T-lymphoblastic lymphoma/leukemia				
http://purl.obolibrary.org/obo/DOID_5600	obsolete precursor lymphoblastic lymphoma/leukemia				
http://purl.obolibrary.org/obo/DOID_5601	obsolete T-cell neoplasm				
http://purl.obolibrary.org/obo/DOID_5609	obsolete congenital adrenal gland disorder				
http://purl.obolibrary.org/obo/DOID_5611	obsolete anaplastic intraspinal meningioma				
http://purl.obolibrary.org/obo/DOID_5613	obsolete anaplastic meningioma				
http://purl.obolibrary.org/obo/DOID_5616	obsolete intraepithelial neoplasm				
http://purl.obolibrary.org/obo/DOID_5622	obsolete Major puerperal infectious disease				
http://purl.obolibrary.org/obo/DOID_563	obsolete primary Fusobacteriaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_5633	obsolete visual pathway meningioma				
http://purl.obolibrary.org/obo/DOID_5649	obsolete solid carcinoma				
http://purl.obolibrary.org/obo/DOID_5652	obsolete metaplastic carcinoma				
http://purl.obolibrary.org/obo/DOID_5663	obsolete helicobacter pylori-related carcinoma				
http://purl.obolibrary.org/obo/DOID_5687	obsolete flat adenoma syndrome				
http://purl.obolibrary.org/obo/DOID_5707	obsolete liposarcoma nonmetastatic				
http://purl.obolibrary.org/obo/DOID_5708	obsolete liposarcoma metastatic				
http://purl.obolibrary.org/obo/DOID_5709	obsolete mixed-type liposarcoma				
http://purl.obolibrary.org/obo/DOID_5710	obsolete liposarcoma recurrent				
http://purl.obolibrary.org/obo/DOID_5717	obsolete recurrent pituitary tumor				
http://purl.obolibrary.org/obo/DOID_5720	obsolete neuroblastomas of the adrenal gland and sympathetic nervous system				
http://purl.obolibrary.org/obo/DOID_5738	obsolete secondary myelofibrosis				
http://purl.obolibrary.org/obo/DOID_5765	obsolete primary ectopic meningioma				
http://purl.obolibrary.org/obo/DOID_5770	obsolete Mycobacterium avium-intracellulare lymphadenitis				
http://purl.obolibrary.org/obo/DOID_5771	obsolete Mycobacterium avium complex lymphadenitis				
http://purl.obolibrary.org/obo/DOID_578	obsolete urination disorder				
http://purl.obolibrary.org/obo/DOID_5785	obsolete recurrent hepatoblastoma				
http://purl.obolibrary.org/obo/DOID_5786	obsolete recurrent childhood cancer of liver				
http://purl.obolibrary.org/obo/DOID_5790	obsolete resectable hepatoblastoma				
http://purl.obolibrary.org/obo/DOID_5792	obsolete hepatoblastoma with pure fetal epithelial differentiation				
http://purl.obolibrary.org/obo/DOID_5796	obsolete nonresectable hepatoblastoma				
http://purl.obolibrary.org/obo/DOID_5797	obsolete mixed hepatoblastoma with teratoid features				
http://purl.obolibrary.org/obo/DOID_5802	obsolete hepatoblastoma with combined fetal epithelial differentiation				
http://purl.obolibrary.org/obo/DOID_581	obsolete gouty nephropathy				
http://purl.obolibrary.org/obo/DOID_5818	obsolete ALPS-associated lymphoma				
http://purl.obolibrary.org/obo/DOID_5819	obsolete localized lymphoma				
http://purl.obolibrary.org/obo/DOID_5832	obsolete metastatic endometrioid carcinoma				
http://purl.obolibrary.org/obo/DOID_5857	obsolete secondary chondrosarcoma				
http://purl.obolibrary.org/obo/DOID_5863	obsolete recurrent chondrosarcoma				
http://purl.obolibrary.org/obo/DOID_5865	obsolete metastatic chondrosarcoma				
http://purl.obolibrary.org/obo/DOID_5872	obsolete placental necrosis				
http://purl.obolibrary.org/obo/DOID_5886	obsolete mixed embryonal carcinoma and teratoma with seminoma of the testis				
http://purl.obolibrary.org/obo/DOID_5888	obsolete congenital cystic kidney disease				
http://purl.obolibrary.org/obo/DOID_5918	obsolete localized unresectable adult primary liver cancer				
http://purl.obolibrary.org/obo/DOID_5919	obsolete localized unresectable adult primary hepatoma				
http://purl.obolibrary.org/obo/DOID_5920	obsolete malignant fibrous histiocytoma metastatic				
http://purl.obolibrary.org/obo/DOID_5924	obsolete recurrent extrahepatic bile duct cancer				
http://purl.obolibrary.org/obo/DOID_5928	obsolete autosomal recessive polycystic kidney				
http://purl.obolibrary.org/obo/DOID_5931	obsolete unresectable extrahepatic bile duct cancer				
http://purl.obolibrary.org/obo/DOID_5933	obsolete resectable bile duct cancer				
http://purl.obolibrary.org/obo/DOID_5934	obsolete localized extrahepatic bile duct cancer				
http://purl.obolibrary.org/obo/DOID_5937	obsolete autosomal dominant polycystic kidney				
http://purl.obolibrary.org/obo/DOID_5941	obsolete lung carcinoma metastatic to the brain				
http://purl.obolibrary.org/obo/DOID_5963	obsolete schistosoma hematobium-related bladder squamous cell carcinoma				
http://purl.obolibrary.org/obo/DOID_5980	obsolete hemispheric anaplastic astrocytoma				
http://purl.obolibrary.org/obo/DOID_5981	obsolete hamartoma of hypothalamus				
http://purl.obolibrary.org/obo/DOID_5989	obsolete clear cell myomelanocytic tumor of the Falciform Ligament/Ligamentum Teres				
http://purl.obolibrary.org/obo/DOID_5991	obsolete early onset breast ovarian cancer syndrome				
http://purl.obolibrary.org/obo/DOID_5996	obsolete blunt duct adenosis of breast				
http://purl.obolibrary.org/obo/DOID_6013	obsolete mediastinum embryonal carcinoma				
http://purl.obolibrary.org/obo/DOID_6014	obsolete mediastinal germ cell cancer				
http://purl.obolibrary.org/obo/DOID_6020	obsolete metastatic MPNST				
http://purl.obolibrary.org/obo/DOID_6021	obsolete malignant testicular Leydig cell tumor				
http://purl.obolibrary.org/obo/DOID_6022	obsolete central nervous system melanoma				
http://purl.obolibrary.org/obo/DOID_6023	obsolete metastasis to the parathyroid gland				
http://purl.obolibrary.org/obo/DOID_6031	obsolete disseminated squamous cell carcinoma				
http://purl.obolibrary.org/obo/DOID_6055	obsolete paranasal sinus Schneiderian papilloma				
http://purl.obolibrary.org/obo/DOID_6071	obsolete resectable duodenal carcinoma				
http://purl.obolibrary.org/obo/DOID_6077	obsolete localized malignant mesothelioma				
http://purl.obolibrary.org/obo/DOID_6078	obsolete secondary malignant neoplasm to the nervous system				
http://purl.obolibrary.org/obo/DOID_6079	obsolete drop secondary malignant neoplasm to the spinal cord				
http://purl.obolibrary.org/obo/DOID_6080	obsolete spinal cord secondary cancer				
http://purl.obolibrary.org/obo/DOID_6081	obsolete childhood testicular endodermal sinus neoplasm				
http://purl.obolibrary.org/obo/DOID_6087	obsolete predominant disturbance of emotions				
http://purl.obolibrary.org/obo/DOID_609	obsolete skin abnormality				
http://purl.obolibrary.org/obo/DOID_6091	obsolete ampulla of vater intestinal type adenocarcinoma				
http://purl.obolibrary.org/obo/DOID_6104	obsolete mixed embryonal carcinoma and teratoma of the mediastinum				
http://purl.obolibrary.org/obo/DOID_6105	obsolete mediastinum malignant teratoma				
http://purl.obolibrary.org/obo/DOID_6107	obsolete mediastinal mixed non-seminomatous germ cell tumor				
http://purl.obolibrary.org/obo/DOID_6108	obsolete mesenchymal hamartoma of the liver				
http://purl.obolibrary.org/obo/DOID_6109	obsolete hepatic and intrahepatic bile duct non-epithelial neoplasm				
http://purl.obolibrary.org/obo/DOID_611	obsolete leukocyte-adhesion deficiency syndrome				
http://purl.obolibrary.org/obo/DOID_6111	obsolete jugular foramen neoplasm				
http://purl.obolibrary.org/obo/DOID_613	obsolete T lymphocyte deficiency				
http://purl.obolibrary.org/obo/DOID_6174	obsolete sporadic conventional renal cell carcinoma				
http://purl.obolibrary.org/obo/DOID_6178	obsolete metastatic ovarian small cell carcinoma with hypercalcemia				
http://purl.obolibrary.org/obo/DOID_6184	obsolete squamous cell carcinoma of unknown primary				
http://purl.obolibrary.org/obo/DOID_619	obsolete lymphoproliferative disease				
http://purl.obolibrary.org/obo/DOID_6200	obsolete recurrent malignant pericardial mesothelioma				
http://purl.obolibrary.org/obo/DOID_6202	obsolete mesothelioma malignant recurrent				
http://purl.obolibrary.org/obo/DOID_6213	obsolete ovarian serous tumor				
http://purl.obolibrary.org/obo/DOID_6240	obsolete transitional cell intraepithelial neoplasm				
http://purl.obolibrary.org/obo/DOID_6246	obsolete oncocytic neoplasm				
http://purl.obolibrary.org/obo/DOID_6268	obsolete recurrent extraskeletal chondrosarcoma				
http://purl.obolibrary.org/obo/DOID_6273	obsolete metastasis to pituitary gland				
http://purl.obolibrary.org/obo/DOID_6277	obsolete ACTH-producing pituitary tumor				
http://purl.obolibrary.org/obo/DOID_6287	obsolete recurrent pediatric cerebellar astrocytoma				
http://purl.obolibrary.org/obo/DOID_6288	obsolete recurrent childhood brain tumor				
http://purl.obolibrary.org/obo/DOID_629	obsolete congenital disorder of natural immunity				
http://purl.obolibrary.org/obo/DOID_6292	obsolete intracranial lipoma				
http://purl.obolibrary.org/obo/DOID_6301	obsolete prostate basal cell carcinoma				
http://purl.obolibrary.org/obo/DOID_6308	obsolete metastatic transitional cell cancer of the renal pelvis and ureter				
http://purl.obolibrary.org/obo/DOID_6327	obsolete ovarian dermoid cyst with adenocarcinoma				
http://purl.obolibrary.org/obo/DOID_6328	obsolete ovarian dermoid cyst with secondary carcinoma				
http://purl.obolibrary.org/obo/DOID_6329	obsolete ovarian dermoid cyst with secondary tumor				
http://purl.obolibrary.org/obo/DOID_6338	obsolete testicular tumor of the thecoma fibroma group				
http://purl.obolibrary.org/obo/DOID_6361	obsolete renal cell carcinoma with constitutional chromosome 3 translocations				
http://purl.obolibrary.org/obo/DOID_637	obsolete metabolic brain disease				
http://purl.obolibrary.org/obo/DOID_638	obsolete demyelinating disease of central nervous system				
http://purl.obolibrary.org/obo/DOID_6382	obsolete recurrent childhood glioma of brain stem				
http://purl.obolibrary.org/obo/DOID_6384	obsolete recurrent childhood central nervous system tumor				
http://purl.obolibrary.org/obo/DOID_6385	obsolete recurrent childhood brainstem astrocytoma				
http://purl.obolibrary.org/obo/DOID_64	obsolete epithelial tissue disease				
http://purl.obolibrary.org/obo/DOID_641	obsolete CNS demyelinating autoimmune disease				
http://purl.obolibrary.org/obo/DOID_642	obsolete demyelinating encephalopathy				
http://purl.obolibrary.org/obo/DOID_6424	obsolete pediatric CNS teratoma				
http://purl.obolibrary.org/obo/DOID_644	obsolete leukoencephalopathy				
http://purl.obolibrary.org/obo/DOID_6447	obsolete ceruminous tumor				
http://purl.obolibrary.org/obo/DOID_6467	obsolete bone recurrent Ewing's sarcoma				
http://purl.obolibrary.org/obo/DOID_6488	obsolete metastatic tumor to the iris				
http://purl.obolibrary.org/obo/DOID_6506	obsolete anaplastic seminoma				
http://purl.obolibrary.org/obo/DOID_652	obsolete congenital musculoskeletal abnormality				
http://purl.obolibrary.org/obo/DOID_6532	obsolete monomorphic B-cell PTLD				
http://purl.obolibrary.org/obo/DOID_6533	obsolete monomorphic PTLD				
http://purl.obolibrary.org/obo/DOID_6535	obsolete plasma cell PTLD				
http://purl.obolibrary.org/obo/DOID_6540	obsolete transient organic mental disorder				
http://purl.obolibrary.org/obo/DOID_6544	obsolete atypical meningioma				
http://purl.obolibrary.org/obo/DOID_6545	obsolete adult atypical meningioma				
http://purl.obolibrary.org/obo/DOID_6546	obsolete secondary cardiac lymphoma				
http://purl.obolibrary.org/obo/DOID_6549	obsolete schistosoma hematobium-related bladder verrucous squamous cell carcinoma				
http://purl.obolibrary.org/obo/DOID_6556	obsolete hamartoma of Spinal Cord				
http://purl.obolibrary.org/obo/DOID_6563	obsolete metastatic testicular cancer				
http://purl.obolibrary.org/obo/DOID_6573	obsolete recurrent adult brain tumor				
http://purl.obolibrary.org/obo/DOID_6574	obsolete Borderline malignancy papillary mucinous cystadenoma				
http://purl.obolibrary.org/obo/DOID_6577	obsolete ovarian dermoid cyst with sebaceous adenoma				
http://purl.obolibrary.org/obo/DOID_6578	obsolete ovarian dermoid cyst with secondary sebaceous tumor				
http://purl.obolibrary.org/obo/DOID_6602	obsolete recurrent malignant peritoneal mesothelioma				
http://purl.obolibrary.org/obo/DOID_6604	obsolete spondylosis and allied disorder				
http://purl.obolibrary.org/obo/DOID_6609	obsolete basaloid squamous cell carcinoma of the head and neck				
http://purl.obolibrary.org/obo/DOID_6618	obsolete unknown primary adenocarcinoma				
http://purl.obolibrary.org/obo/DOID_6628	obsolete malignant neoplasm of nipple				
http://purl.obolibrary.org/obo/DOID_6630	obsolete ovarian dermoid cyst with secondary sarcoma				
http://purl.obolibrary.org/obo/DOID_6631	obsolete ovarian dermoid cyst with leiomyosarcoma				
http://purl.obolibrary.org/obo/DOID_6632	obsolete ovarian dermoid cyst with angiosarcoma				
http://purl.obolibrary.org/obo/DOID_6663	obsolete papillotubular adenocarcinoma				
http://purl.obolibrary.org/obo/DOID_6667	obsolete regressing nevus				
http://purl.obolibrary.org/obo/DOID_6675	obsolete menopausal syndrome				
http://purl.obolibrary.org/obo/DOID_6681	obsolete diffuse leiomyomatosis syndrome				
http://purl.obolibrary.org/obo/DOID_6689	obsolete adherence syndrome				
http://purl.obolibrary.org/obo/DOID_6690	obsolete acroparesthesia syndrome				
http://purl.obolibrary.org/obo/DOID_67	obsolete neural tissue disease				
http://purl.obolibrary.org/obo/DOID_6702	obsolete recurrent stomach cancer				
http://purl.obolibrary.org/obo/DOID_6704	obsolete anaplastic gastric carcinoma				
http://purl.obolibrary.org/obo/DOID_6708	obsolete recurrent ovarian epithelial cancer				
http://purl.obolibrary.org/obo/DOID_6710	obsolete metastatic anal cancer				
http://purl.obolibrary.org/obo/DOID_6714	obsolete circumscribed storiform collagenoma				
http://purl.obolibrary.org/obo/DOID_6715	obsolete collagen nevus of skin				
http://purl.obolibrary.org/obo/DOID_6716	obsolete eruptive collagenoma				
http://purl.obolibrary.org/obo/DOID_6728	obsolete recurrent pediatric optic nerve astrocytoma				
http://purl.obolibrary.org/obo/DOID_6729	obsolete recurrent pediatric optic nerve glioma				
http://purl.obolibrary.org/obo/DOID_6730	obsolete recurrent childhood optic tract astrocytoma				
http://purl.obolibrary.org/obo/DOID_6731	obsolete recurrent glioma of childhood visual pathway				
http://purl.obolibrary.org/obo/DOID_6750	obsolete malignant fibrous histiocytoma recurrent				
http://purl.obolibrary.org/obo/DOID_6761	obsolete skin lymphoma				
http://purl.obolibrary.org/obo/DOID_6764	obsolete peripheral neuroblastoma				
http://purl.obolibrary.org/obo/DOID_6778	obsolete renal pelvis and ureter localized transitional cell cancer				
http://purl.obolibrary.org/obo/DOID_6784	obsolete pediatric desmoplastic small round cell tumor				
http://purl.obolibrary.org/obo/DOID_6792	obsolete mixed endodermal sinus neoplasm and teratoma with seminoma of the testis				
http://purl.obolibrary.org/obo/DOID_68	obsolete lymphomyeloid tissue disease				
http://purl.obolibrary.org/obo/DOID_6802	obsolete relapsed precursor T lymphoblastic lymphoma/leukemia				
http://purl.obolibrary.org/obo/DOID_6807	obsolete hamartoma Moniliformis				
http://purl.obolibrary.org/obo/DOID_6808	obsolete Basaloid follicular hamartoma				
http://purl.obolibrary.org/obo/DOID_6820	obsolete anaplastic childhood astrocytoma of brain				
http://purl.obolibrary.org/obo/DOID_6826	obsolete recurrent cancer of pancreas				
http://purl.obolibrary.org/obo/DOID_6828	obsolete non-resectable pancreatic carcinoma				
http://purl.obolibrary.org/obo/DOID_6830	obsolete resectable pancreas carcinoma				
http://purl.obolibrary.org/obo/DOID_6835	obsolete recurrent anal cancer				
http://purl.obolibrary.org/obo/DOID_6840	obsolete glandular cell intraepithelial neoplasm				
http://purl.obolibrary.org/obo/DOID_6850	obsolete hamartoma of Eccrine Sweat gland				
http://purl.obolibrary.org/obo/DOID_6851	obsolete Linear Eccrine nevus with Comedones				
http://purl.obolibrary.org/obo/DOID_6852	obsolete eccrine angiomatous hamartoma				
http://purl.obolibrary.org/obo/DOID_6860	obsolete Endobronchial hamartoma				
http://purl.obolibrary.org/obo/DOID_6861	obsolete recurrent cancer of gallbladder				
http://purl.obolibrary.org/obo/DOID_6870	obsolete cockade nevus				
http://purl.obolibrary.org/obo/DOID_6874	obsolete type 1a ALPS				
http://purl.obolibrary.org/obo/DOID_6876	obsolete mixed childhood rhabdomyosarcoma				
http://purl.obolibrary.org/obo/DOID_6879	obsolete hamartoma of Apocrine Sweat gland				
http://purl.obolibrary.org/obo/DOID_6887	obsolete recurrent ureteric cancer				
http://purl.obolibrary.org/obo/DOID_6893	obsolete AIDS-related cervical cancer				
http://purl.obolibrary.org/obo/DOID_6894	obsolete AIDS-related cervical Kaposi's sarcoma				
http://purl.obolibrary.org/obo/DOID_6897	obsolete Malposition and malpresentation of fetus				
http://purl.obolibrary.org/obo/DOID_69	obsolete hemopoetic tissue disease				
http://purl.obolibrary.org/obo/DOID_690	obsolete childhood cancer of liver				
http://purl.obolibrary.org/obo/DOID_6919	obsolete extramucosal (perianal) adenocarcinoma				
http://purl.obolibrary.org/obo/DOID_6923	obsolete fibrolipomatous hamartoma of peripheral nerve				
http://purl.obolibrary.org/obo/DOID_6955	obsolete intracranial melanoma				
http://purl.obolibrary.org/obo/DOID_6956	obsolete malignant intracranial neoplasm By Morphology				
http://purl.obolibrary.org/obo/DOID_6962	obsolete recurrent cancer of skin				
http://purl.obolibrary.org/obo/DOID_6980	obsolete recurrent rectosigmoid cancer				
http://purl.obolibrary.org/obo/DOID_6981	obsolete recurrent colorectal cancer				
http://purl.obolibrary.org/obo/DOID_6989	obsolete non-neoplastic non-molar trophoblastic disorder				
http://purl.obolibrary.org/obo/DOID_6990	obsolete placental site nodule or plaque				
http://purl.obolibrary.org/obo/DOID_6991	obsolete exaggerated placental site				
http://purl.obolibrary.org/obo/DOID_6995	obsolete metastasis to the kidney				
http://purl.obolibrary.org/obo/DOID_6999	obsolete lung recurrent squamous cell carcinoma				
http://purl.obolibrary.org/obo/DOID_70	obsolete lymphoid tissue disease				
http://purl.obolibrary.org/obo/DOID_7001	obsolete recurrent large cell carcinoma of lung				
http://purl.obolibrary.org/obo/DOID_7002	obsolete recurrent adenocarcinoma of lung				
http://purl.obolibrary.org/obo/DOID_7003	obsolete malignant vaginal mixed tumor resembling synovial sarcoma				
http://purl.obolibrary.org/obo/DOID_7006	obsolete childhood cerebral diffuse astrocytoma				
http://purl.obolibrary.org/obo/DOID_7009	obsolete adult diffuse astrocytoma				
http://purl.obolibrary.org/obo/DOID_7011	obsolete recurrent thyroid carcinoma				
http://purl.obolibrary.org/obo/DOID_7012	obsolete anaplastic thyroid carcinoma				
http://purl.obolibrary.org/obo/DOID_7015	obsolete deep fatty neoplasm				
http://purl.obolibrary.org/obo/DOID_7018	obsolete secondary malignant neoplasm to the adult brain				
http://purl.obolibrary.org/obo/DOID_702	obsolete tooth abnormality				
http://purl.obolibrary.org/obo/DOID_7023	obsolete borderline ovarian serous neoplasm with microinvasion				
http://purl.obolibrary.org/obo/DOID_7025	obsolete anaplastic malignant intracranial meningioma				
http://purl.obolibrary.org/obo/DOID_7026	obsolete adult malignant meningioma				
http://purl.obolibrary.org/obo/DOID_7029	obsolete site specific early onset breast cancer syndrome				
http://purl.obolibrary.org/obo/DOID_7043	obsolete metastatic vulvar cancer				
http://purl.obolibrary.org/obo/DOID_7053	obsolete anaplastic small cell thyroid carcinoma				
http://purl.obolibrary.org/obo/DOID_7070	obsolete recurrent pediatric rhabdomyosarcoma				
http://purl.obolibrary.org/obo/DOID_7074	obsolete choroidal hemorrhage and rupture				
http://purl.obolibrary.org/obo/DOID_7075	obsolete atypical vulvar nevus				
http://purl.obolibrary.org/obo/DOID_7078	obsolete malignant mediastinal peripheral nerve sheath tumor				
http://purl.obolibrary.org/obo/DOID_7083	obsolete recurrent adult primary hepatoma				
http://purl.obolibrary.org/obo/DOID_7084	obsolete recurrent adult primary liver cancer				
http://purl.obolibrary.org/obo/DOID_7099	obsolete ovarian dermoid cyst with squamous cell carcinoma				
http://purl.obolibrary.org/obo/DOID_7145	obsolete papillary cystic tumor				
http://purl.obolibrary.org/obo/DOID_7149	obsolete metastatic parathyroid cancer				
http://purl.obolibrary.org/obo/DOID_7150	obsolete recurrent parathyroid cancer				
http://purl.obolibrary.org/obo/DOID_7155	obsolete adult undifferentiated oligodendroglioma				
http://purl.obolibrary.org/obo/DOID_7156	obsolete anaplastic childhood oligodendroglioma				
http://purl.obolibrary.org/obo/DOID_7157	obsolete metastatic squamous neck cancer with occult primary				
http://purl.obolibrary.org/obo/DOID_7158	obsolete recurrent metastatic squamous cell cancer to the neck with occult primary				
http://purl.obolibrary.org/obo/DOID_7162	obsolete recurrent larynx cancer				
http://purl.obolibrary.org/obo/DOID_7164	obsolete mediastinum mature teratoma				
http://purl.obolibrary.org/obo/DOID_7170	obsolete recurrent non-cutaneous melanoma				
http://purl.obolibrary.org/obo/DOID_7171	obsolete recurrent cutaneous melanoma				
http://purl.obolibrary.org/obo/DOID_7186	obsolete metastatic childhood sarcoma of soft tissue				
http://purl.obolibrary.org/obo/DOID_7215	obsolete relapsed childhood ependymoma				
http://purl.obolibrary.org/obo/DOID_722	obsolete spontaneous abortion				
http://purl.obolibrary.org/obo/DOID_7245	obsolete metastatic endometrial adenocarcinoma				
http://purl.obolibrary.org/obo/DOID_7252	obsolete cerebral meninges malignant neoplasm				
http://purl.obolibrary.org/obo/DOID_7256	obsolete anaplastic urethra carcinoma				
http://purl.obolibrary.org/obo/DOID_7262	obsolete gallbladder anaplastic carcinoma				
http://purl.obolibrary.org/obo/DOID_7268	obsolete solid carcinoma of lung with mucus formation				
http://purl.obolibrary.org/obo/DOID_7273	obsolete adrenal gland tuberculosis				
http://purl.obolibrary.org/obo/DOID_7295	obsolete recurrent childhood soft tissue sarcoma				
http://purl.obolibrary.org/obo/DOID_7296	obsolete nonmetastatic childhood soft tissue sarcoma				
http://purl.obolibrary.org/obo/DOID_7301	obsolete inferior vena cava leiomyosarcoma				
http://purl.obolibrary.org/obo/DOID_7304	obsolete breast carcinoma metastatic to the brain				
http://purl.obolibrary.org/obo/DOID_7306	obsolete anaplastic oligoastrocytoma				
http://purl.obolibrary.org/obo/DOID_7316	obsolete inherited neuropathy				
http://purl.obolibrary.org/obo/DOID_7323	obsolete primary cerebral lymphoma in immunocompetent host				
http://purl.obolibrary.org/obo/DOID_7324	obsolete hepatitis C virus related hepatocellular carcinoma				
http://purl.obolibrary.org/obo/DOID_7325	obsolete hepatitis B virus related hepatocellular carcinoma				
http://purl.obolibrary.org/obo/DOID_7335	obsolete extraocular extension of melanoma				
http://purl.obolibrary.org/obo/DOID_7344	obsolete anaplastic brainstem astrocytoma				
http://purl.obolibrary.org/obo/DOID_7345	obsolete anaplastic glioma of brain stem				
http://purl.obolibrary.org/obo/DOID_735	obsolete metastatic neoplasm of urethra				
http://purl.obolibrary.org/obo/DOID_7351	obsolete localized Askin's tumor				
http://purl.obolibrary.org/obo/DOID_7352	obsolete diencephalic anaplastic astrocytoma				
http://purl.obolibrary.org/obo/DOID_7357	obsolete rectal anaplastic carcinoma				
http://purl.obolibrary.org/obo/DOID_7358	obsolete recurrent rectal cancer				
http://purl.obolibrary.org/obo/DOID_7362	obsolete teratoma of CNS with malignant transformation				
http://purl.obolibrary.org/obo/DOID_7364	obsolete organic anxiety disorder				
http://purl.obolibrary.org/obo/DOID_7384	obsolete localized resectable adult primary hepatoma				
http://purl.obolibrary.org/obo/DOID_7385	obsolete localized resectable adult primary liver cancer				
http://purl.obolibrary.org/obo/DOID_739	obsolete metastasis to the urethra				
http://purl.obolibrary.org/obo/DOID_7391	obsolete superior vena cava malignant neoplasm				
http://purl.obolibrary.org/obo/DOID_7407	obsolete metastatic carcinoma to the uterine cervix				
http://purl.obolibrary.org/obo/DOID_7410	obsolete vulvar squamous cell carcinoma with tumor giant cells				
http://purl.obolibrary.org/obo/DOID_7419	obsolete metaplastic meningioma				
http://purl.obolibrary.org/obo/DOID_7420	obsolete placental infarction				
http://purl.obolibrary.org/obo/DOID_7423	obsolete ovarian mucinous cystic tumor with mural nodules				
http://purl.obolibrary.org/obo/DOID_744	obsolete Muscle calcification and ossification				
http://purl.obolibrary.org/obo/DOID_7444	obsolete diffuse intraductal papillomatosis				
http://purl.obolibrary.org/obo/DOID_7455	obsolete hypogonadotropism				
http://purl.obolibrary.org/obo/DOID_7468	obsolete Spitz nevus				
http://purl.obolibrary.org/obo/DOID_7469	obsolete balloon cell nevus				
http://purl.obolibrary.org/obo/DOID_7470	obsolete neural nevus				
http://purl.obolibrary.org/obo/DOID_7471	obsolete deep penetrating nevus				
http://purl.obolibrary.org/obo/DOID_7472	obsolete recurrent nevus				
http://purl.obolibrary.org/obo/DOID_7473	obsolete recurrent malignant pleural mesothelioma				
http://purl.obolibrary.org/obo/DOID_7486	obsolete metastatic renal cell carcinoma				
http://purl.obolibrary.org/obo/DOID_7504	obsolete mixed embryonal carcinoma and endodermal sinus neoplasm of the testis				
http://purl.obolibrary.org/obo/DOID_7507	obsolete malformation of placenta				
http://purl.obolibrary.org/obo/DOID_7512	obsolete localized intraductal papillomatosis				
http://purl.obolibrary.org/obo/DOID_7517	obsolete central nervous system mixed germ cell tumor				
http://purl.obolibrary.org/obo/DOID_7526	obsolete metastatic neoplasm to the ciliary body				
http://purl.obolibrary.org/obo/DOID_7543	obsolete recurrent squamous cell carcinoma of the esophagus				
http://purl.obolibrary.org/obo/DOID_7544	obsolete recurrent esophagus cancer				
http://purl.obolibrary.org/obo/DOID_7554	obsolete Paget's disease and intraductal carcinoma of breast				
http://purl.obolibrary.org/obo/DOID_7568	obsolete adult brain meningioma				
http://purl.obolibrary.org/obo/DOID_757	obsolete thyrotoxicosis with toxic single thyroid nodule				
http://purl.obolibrary.org/obo/DOID_7576	obsolete metastatic pancreatic adenocarcinoma				
http://purl.obolibrary.org/obo/DOID_7581	obsolete psychogenic depressive psychosis				
http://purl.obolibrary.org/obo/DOID_7588	obsolete mixed endodermal sinus neoplasm and teratoma of the testis				
http://purl.obolibrary.org/obo/DOID_7589	obsolete ovarian dermoid cyst with melanocytic nevus				
http://purl.obolibrary.org/obo/DOID_759	obsolete congenital disorder				
http://purl.obolibrary.org/obo/DOID_7590	obsolete ovarian dermoid cyst with secondary melanocytic lesion				
http://purl.obolibrary.org/obo/DOID_7593	obsolete recurrent pediatric medulloblastoma				
http://purl.obolibrary.org/obo/DOID_7601	obsolete advanced malignant pleural mesothelioma				
http://purl.obolibrary.org/obo/DOID_761	obsolete meningococcal endocarditis				
http://purl.obolibrary.org/obo/DOID_762	obsolete bacterial endocarditis				
http://purl.obolibrary.org/obo/DOID_763	obsolete meningococcal carditis				
http://purl.obolibrary.org/obo/DOID_7636	obsolete recurrent cancer of small Intestine				
http://purl.obolibrary.org/obo/DOID_7638	obsolete Paget's disease and invasive ductal carcinoma of breast				
http://purl.obolibrary.org/obo/DOID_764	obsolete meningococcal pericarditis				
http://purl.obolibrary.org/obo/DOID_7641	obsolete non-resectable small intestine carcinoma				
http://purl.obolibrary.org/obo/DOID_7652	obsolete rare cancer-associated syndrome				
http://purl.obolibrary.org/obo/DOID_7657	obsolete anaplastic astrocytoma of adult				
http://purl.obolibrary.org/obo/DOID_7671	obsolete recurrent penis cancer				
http://purl.obolibrary.org/obo/DOID_7672	obsolete regressing non-cutaneous melanoma				
http://purl.obolibrary.org/obo/DOID_7677	obsolete bone metastatic Ewing's sarcoma				
http://purl.obolibrary.org/obo/DOID_7681	obsolete mixed choriocarcinoma and teratoma of the testis				
http://purl.obolibrary.org/obo/DOID_7683	obsolete dissecting aortic aneurysm				
http://purl.obolibrary.org/obo/DOID_7710	obsolete metastatic extraskeletal chondrosarcoma				
http://purl.obolibrary.org/obo/DOID_7714	obsolete metastatic malignant hemangiopericytoma				
http://purl.obolibrary.org/obo/DOID_772	obsolete metastasis to the retina				
http://purl.obolibrary.org/obo/DOID_7724	obsolete generalized convulsive epilepsy				
http://purl.obolibrary.org/obo/DOID_7728	obsolete chronic allograft arteriopathy				
http://purl.obolibrary.org/obo/DOID_773	obsolete metastasis to eye				
http://purl.obolibrary.org/obo/DOID_7753	obsolete recurrent cancer of testis				
http://purl.obolibrary.org/obo/DOID_7754	obsolete Chondroid hamartoma of lung				
http://purl.obolibrary.org/obo/DOID_7786	obsolete mixed choriocarcinoma and embryonal carcinoma of the testis				
http://purl.obolibrary.org/obo/DOID_7799	obsolete transitional cell carcinoma of the ureter with glandular differentiation				
http://purl.obolibrary.org/obo/DOID_7801	obsolete plasmacytoma-like PTLD				
http://purl.obolibrary.org/obo/DOID_7805	obsolete nonmetastatic extraskeletal osteosarcoma				
http://purl.obolibrary.org/obo/DOID_7809	obsolete anaplastic giant cell thyroid carcinoma				
http://purl.obolibrary.org/obo/DOID_7815	obsolete recurrent malignant thymoma				
http://purl.obolibrary.org/obo/DOID_7836	obsolete mixed acinar-endocrine carcinoma				
http://purl.obolibrary.org/obo/DOID_7847	obsolete vascular hemorrhagic disorder				
http://purl.obolibrary.org/obo/DOID_7850	obsolete recurrent uvea melanoma				
http://purl.obolibrary.org/obo/DOID_7855	obsolete recurrent ovarian germ cell neoplasm				
http://purl.obolibrary.org/obo/DOID_789	obsolete hypotony of eye associated with another ocular disorder				
http://purl.obolibrary.org/obo/DOID_7890	obsolete testicular spermatocytic seminoma with sarcoma				
http://purl.obolibrary.org/obo/DOID_7892	obsolete breast adenohibernoma				
http://purl.obolibrary.org/obo/DOID_791	obsolete disorganized schizophrenia in remission				
http://purl.obolibrary.org/obo/DOID_7919	obsolete nonmetastatic extra-osseous ewing's sarcoma				
http://purl.obolibrary.org/obo/DOID_792	obsolete disorganized schizophrenia				
http://purl.obolibrary.org/obo/DOID_7920	obsolete central nervous system benign soft tissue neoplasm				
http://purl.obolibrary.org/obo/DOID_7922	obsolete benign mediastinal neurilemmoma				
http://purl.obolibrary.org/obo/DOID_793	obsolete schizophrenia in remission				
http://purl.obolibrary.org/obo/DOID_7931	obsolete old burn scar-related squamous cell carcinoma of skin				
http://purl.obolibrary.org/obo/DOID_7933	obsolete childhood precursor T-lymphoblastic lymphoma/leukemia				
http://purl.obolibrary.org/obo/DOID_7938	obsolete dyschondroplasia				
http://purl.obolibrary.org/obo/DOID_794	obsolete residual schizophrenia in remission				
http://purl.obolibrary.org/obo/DOID_7946	obsolete recurrent cancer of colon				
http://purl.obolibrary.org/obo/DOID_795	obsolete residual type schizophrenia				
http://purl.obolibrary.org/obo/DOID_7966	obsolete type 3 ALPS				
http://purl.obolibrary.org/obo/DOID_7979	obsolete helicobacter pylori-related gastric adenocarcinoma				
http://purl.obolibrary.org/obo/DOID_8004	obsolete ovarian dermoid cyst with prolactin secreting adenoma				
http://purl.obolibrary.org/obo/DOID_8005	obsolete ovarian dermoid cyst with secondary pituitary-type tumor				
http://purl.obolibrary.org/obo/DOID_8011	obsolete metastatic fibrosarcoma				
http://purl.obolibrary.org/obo/DOID_8014	obsolete ovarian dermoid cyst with corticotropin secreting adenoma				
http://purl.obolibrary.org/obo/DOID_8016	obsolete anaplastic ganglioglioma				
http://purl.obolibrary.org/obo/DOID_8018	obsolete renal pelvis and ureter regional transitional cell cancer				
http://purl.obolibrary.org/obo/DOID_8019	obsolete renal pelvis and ureter recurrent transitional cell cancer				
http://purl.obolibrary.org/obo/DOID_8021	obsolete medullary carcinoma with amyloid stroma				
http://purl.obolibrary.org/obo/DOID_8024	obsolete male genital tuberculosis				
http://purl.obolibrary.org/obo/DOID_8026	obsolete intestinal adenocarcinoma of the stomach				
http://purl.obolibrary.org/obo/DOID_8045	obsolete recurrent cancer of prostate				
http://purl.obolibrary.org/obo/DOID_8079	obsolete monomorphic T-cell PTLD				
http://purl.obolibrary.org/obo/DOID_8080	obsolete ovarian mucinous cystic tumor associated with pseudomyxoma peritonei				
http://purl.obolibrary.org/obo/DOID_8087	obsolete ovarian dermoid cyst with sebaceous carcinoma				
http://purl.obolibrary.org/obo/DOID_8089	obsolete advanced adult primary hepatoma				
http://purl.obolibrary.org/obo/DOID_8107	obsolete S-T syndrome				
http://purl.obolibrary.org/obo/DOID_8115	obsolete recurrent childhood cerebral astrocytoma				
http://purl.obolibrary.org/obo/DOID_8120	obsolete adenocarcinoma in villous adenoma				
http://purl.obolibrary.org/obo/DOID_8121	obsolete metastatic extra-osseous Ewing's sarcoma				
http://purl.obolibrary.org/obo/DOID_8131	obsolete sclerosing mucoepidermoid thyroid carcinoma with eosinophilia				
http://purl.obolibrary.org/obo/DOID_8136	obsolete transitional cell carcinoma of the ureter with mixed differentiation				
http://purl.obolibrary.org/obo/DOID_8145	obsolete metastatic neoplasm to the gallbladder				
http://purl.obolibrary.org/obo/DOID_8146	obsolete anaplastic secondary supratentorial astrocytic neoplasm				
http://purl.obolibrary.org/obo/DOID_8148	obsolete recurrent childhood malignant germ cell tumor				
http://purl.obolibrary.org/obo/DOID_8152	obsolete distal 1/3 of common bile duct adenocarcinoma				
http://purl.obolibrary.org/obo/DOID_8163	obsolete gallbladder cancer unresectable				
http://purl.obolibrary.org/obo/DOID_8192	obsolete recurrent vulva cancer				
http://purl.obolibrary.org/obo/DOID_8194	obsolete recurrent pediatric hepatoma				
http://purl.obolibrary.org/obo/DOID_8197	obsolete ovarian dermoid cyst with melanoma				
http://purl.obolibrary.org/obo/DOID_8199	obsolete bursa syphilis				
http://purl.obolibrary.org/obo/DOID_8205	obsolete alloimmunization				
http://purl.obolibrary.org/obo/DOID_8219	obsolete recurrent epithelioid sarcoma				
http://purl.obolibrary.org/obo/DOID_8220	obsolete recurrent extraosseous Ewing's sarcoma				
http://purl.obolibrary.org/obo/DOID_8222	obsolete adenocarcinoma in tubular adenoma				
http://purl.obolibrary.org/obo/DOID_8228	obsolete metastatic extraskeletal osteosarcoma				
http://purl.obolibrary.org/obo/DOID_8229	obsolete metastatic small intestinal adenocarcinoma				
http://purl.obolibrary.org/obo/DOID_8234	obsolete malignant hemangiopericytoma recurrent				
http://purl.obolibrary.org/obo/DOID_8238	obsolete metastatic endometrial carcinoma				
http://purl.obolibrary.org/obo/DOID_8244	obsolete bone recurrent PNET				
http://purl.obolibrary.org/obo/DOID_8246	obsolete breast myoid hamartoma				
http://purl.obolibrary.org/obo/DOID_8257	obsolete transitional cell carcinoma of the ureter with squamous differentiation				
http://purl.obolibrary.org/obo/DOID_8269	obsolete adenocarcinoma in adenomatous polyposis coli				
http://purl.obolibrary.org/obo/DOID_8276	obsolete Hodgkin-like posttransplantation lymphoproliferative disease				
http://purl.obolibrary.org/obo/DOID_8281	obsolete recurrent malignant peripheral nerve sheath neoplasm				
http://purl.obolibrary.org/obo/DOID_8285	obsolete nonmetastatic epithelioid sarcoma				
http://purl.obolibrary.org/obo/DOID_8286	obsolete metastatic epithelioid sarcoma				
http://purl.obolibrary.org/obo/DOID_8287	obsolete Multiple Chondromatous hamartoma of lung				
http://purl.obolibrary.org/obo/DOID_8289	obsolete breast adenolipoma				
http://purl.obolibrary.org/obo/DOID_829	obsolete crystal arthropathy				
http://purl.obolibrary.org/obo/DOID_8309	obsolete metastatic carcinoma from the small bowel				
http://purl.obolibrary.org/obo/DOID_8329	obsolete resectable small intestine carcinoma				
http://purl.obolibrary.org/obo/DOID_8334	obsolete testicular intratubular germ cell neoplasia with extratubular extension				
http://purl.obolibrary.org/obo/DOID_8344	obsolete type 1b ALPS				
http://purl.obolibrary.org/obo/DOID_8345	obsolete type 2 ALPS				
http://purl.obolibrary.org/obo/DOID_8348	obsolete localized PNET of bone				
http://purl.obolibrary.org/obo/DOID_8349	obsolete metastatic peripheral neuroepithelioma of bone				
http://purl.obolibrary.org/obo/DOID_8365	obsolete inferior vena cava malignant neoplasm				
http://purl.obolibrary.org/obo/DOID_8366	obsolete esophageal adenocarcinoma recurrent				
http://purl.obolibrary.org/obo/DOID_8376	obsolete mixed embryonal carcinoma and endodermal sinus neoplasm with seminoma of the testis				
http://purl.obolibrary.org/obo/DOID_8381	obsolete ectopic calcitonin production				
http://purl.obolibrary.org/obo/DOID_8382	obsolete recurrent endometrial cancer				
http://purl.obolibrary.org/obo/DOID_8386	obsolete ectopic chorionic gonadotropin secretion disease				
http://purl.obolibrary.org/obo/DOID_8387	obsolete metastatic non-cutaneous melanoma				
http://purl.obolibrary.org/obo/DOID_8388	obsolete mixed embryonal carcinoma and seminoma of the testis				
http://purl.obolibrary.org/obo/DOID_8390	obsolete mixed choriocarcinoma and seminoma of the testis				
http://purl.obolibrary.org/obo/DOID_8401	obsolete malignant hemangiopericytoma nonmetastatic				
http://purl.obolibrary.org/obo/DOID_8413	obsolete recurrent extraskeletal osteosarcoma				
http://purl.obolibrary.org/obo/DOID_8429	obsolete testicular seminoma with syncytiotrophoblastic cells				
http://purl.obolibrary.org/obo/DOID_8435	obsolete Drug dependence complicating pregnancy, childbirth, or the puerperium				
http://purl.obolibrary.org/obo/DOID_844	obsolete chronic depressive disorder				
http://purl.obolibrary.org/obo/DOID_8444	obsolete nerve root and plexus disorder				
http://purl.obolibrary.org/obo/DOID_8449	obsolete vitamin B deficiency				
http://purl.obolibrary.org/obo/DOID_8451	obsolete vitamin deficiency				
http://purl.obolibrary.org/obo/DOID_8452	obsolete malnutrition				
http://purl.obolibrary.org/obo/DOID_8453	obsolete folic acid deficiency				
http://purl.obolibrary.org/obo/DOID_8458	obsolete Thiamine and niacin deficiency state				
http://purl.obolibrary.org/obo/DOID_8459	obsolete vitamin B 12 deficiency				
http://purl.obolibrary.org/obo/DOID_846	obsolete arthropathy associated with hematological disorder				
http://purl.obolibrary.org/obo/DOID_8467	obsolete Retinoschisis and retinal cysts				
http://purl.obolibrary.org/obo/DOID_8477	obsolete malabsorption syndrome				
http://purl.obolibrary.org/obo/DOID_8487	obsolete secondary retinal cyst				
http://purl.obolibrary.org/obo/DOID_8489	obsolete disorder of amniotic fluid and membranes				
http://purl.obolibrary.org/obo/DOID_8490	obsolete primary hypotonic uterine dysfunction				
http://purl.obolibrary.org/obo/DOID_8491	obsolete Prolonged first stage of labor				
http://purl.obolibrary.org/obo/DOID_8493	obsolete abnormality of forces of labor				
http://purl.obolibrary.org/obo/DOID_8494	obsolete dystocia				
http://purl.obolibrary.org/obo/DOID_8495	obsolete prolonged labor				
http://purl.obolibrary.org/obo/DOID_8521	obsolete recurrent manic episodes				
http://purl.obolibrary.org/obo/DOID_8523	obsolete nodular lymphoma involving lymph nodes of axilla and upper limb				
http://purl.obolibrary.org/obo/DOID_8524	obsolete nodular lymphoma				
http://purl.obolibrary.org/obo/DOID_8525	obsolete nodular lymphoma involving intra-abdominal lymph nodes				
http://purl.obolibrary.org/obo/DOID_8530	obsolete toxic gastroenteritis and colitis				
http://purl.obolibrary.org/obo/DOID_8539	obsolete recurrent manic episodes in full remission				
http://purl.obolibrary.org/obo/DOID_8540	obsolete Sezary's disease involving lymph nodes of head, face, and neck				
http://purl.obolibrary.org/obo/DOID_8542	obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of axilla and upper limb				
http://purl.obolibrary.org/obo/DOID_8559	obsolete carcinoma in situ of female genital organs				
http://purl.obolibrary.org/obo/DOID_8560	obsolete carcinoma in situ of breast and genitourinary system				
http://purl.obolibrary.org/obo/DOID_8580	obsolete malignant histiocytosis				
http://purl.obolibrary.org/obo/DOID_8583	obsolete Burkitt's tumor or lymphoma involving intrathoracic lymph nodes				
http://purl.obolibrary.org/obo/DOID_8586	obsolete dysplasia of cervix				
http://purl.obolibrary.org/obo/DOID_8587	obsolete Burkitt's tumor or lymphoma extranodal and solid organ sites				
http://purl.obolibrary.org/obo/DOID_8592	obsolete reticulosarcoma involving lymph nodes of inguinal region and lower limb				
http://purl.obolibrary.org/obo/DOID_8598	obsolete mild degree recurrent episode manic disorder				
http://purl.obolibrary.org/obo/DOID_8599	obsolete Sezary's disease involving lymph nodes of inguinal region and lower limb				
http://purl.obolibrary.org/obo/DOID_8600	obsolete carcinoid syndrome				
http://purl.obolibrary.org/obo/DOID_8604	obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intrapelvic lymph nodes				
http://purl.obolibrary.org/obo/DOID_8609	obsolete moderate degree recurrent episode manic disease				
http://purl.obolibrary.org/obo/DOID_8611	obsolete drug induced sleep disorder				
http://purl.obolibrary.org/obo/DOID_8615	obsolete spontaneous abortion complicated by shock				
http://purl.obolibrary.org/obo/DOID_8620	obsolete reticulosarcoma involving intrapelvic lymph nodes				
http://purl.obolibrary.org/obo/DOID_8623	obsolete adhesions and disruptions of pupillary membranes				
http://purl.obolibrary.org/obo/DOID_8626	obsolete Sezary's disease involving spleen				
http://purl.obolibrary.org/obo/DOID_8627	obsolete Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of inguinal region and lower limb				
http://purl.obolibrary.org/obo/DOID_8638	obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intra-abdominal lymph nodes				
http://purl.obolibrary.org/obo/DOID_8639	obsolete alcohol withdrawal delirium				
http://purl.obolibrary.org/obo/DOID_8640	obsolete reticulosarcoma involving lymph nodes of multiple sites				
http://purl.obolibrary.org/obo/DOID_8641	obsolete Hodgkin's paragranuloma involving lymph nodes of axilla and upper limb				
http://purl.obolibrary.org/obo/DOID_8650	obsolete Hodgkin's granuloma involving intrapelvic lymph nodes				
http://purl.obolibrary.org/obo/DOID_8653	obsolete Hodgkin's lymphoma, mixed cellularity, involving intrathoracic lymph nodes				
http://purl.obolibrary.org/obo/DOID_8656	obsolete Sezary's disease involving lymph nodes of multiple sites				
http://purl.obolibrary.org/obo/DOID_8664	obsolete nodular lymphoma involving intrapelvic lymph nodes				
http://purl.obolibrary.org/obo/DOID_8667	obsolete Hodgkin's sarcoma involving intra-abdominal lymph nodes				
http://purl.obolibrary.org/obo/DOID_8674	obsolete lymphosarcoma involving intrapelvic lymph nodes				
http://purl.obolibrary.org/obo/DOID_8676	obsolete malignant histiocytosis involving lymph nodes of multiple sites				
http://purl.obolibrary.org/obo/DOID_8690	obsolete Mycosis fungoides involving lymph nodes of head, face, and neck				
http://purl.obolibrary.org/obo/DOID_8701	obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of head, face, and neck				
http://purl.obolibrary.org/obo/DOID_8716	obsolete lymphosarcoma and reticulosarcoma				
http://purl.obolibrary.org/obo/DOID_872	obsolete soft tissue disease				
http://purl.obolibrary.org/obo/DOID_8742	obsolete Hodgkin's granuloma involving lymph nodes of head, face, and neck				
http://purl.obolibrary.org/obo/DOID_8745	obsolete universal ulcerative colitis				
http://purl.obolibrary.org/obo/DOID_8747	obsolete subacute myeloid leukemia				
http://purl.obolibrary.org/obo/DOID_8748	obsolete acute dermatitis due to solar radiation				
http://purl.obolibrary.org/obo/DOID_8749	obsolete actinic reticuloid and actinic granuloma				
http://purl.obolibrary.org/obo/DOID_8751	obsolete Hodgkin's granuloma involving intrathoracic lymph nodes				
http://purl.obolibrary.org/obo/DOID_8754	obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of inguinal region and lower limb				
http://purl.obolibrary.org/obo/DOID_8758	obsolete lymphosarcoma involving lymph nodes of multiple sites				
http://purl.obolibrary.org/obo/DOID_8766	obsolete lymphosarcoma involving intra-abdominal lymph nodes				
http://purl.obolibrary.org/obo/DOID_8767	obsolete malignant histiocytosis involving lymph nodes of axilla and upper limb				
http://purl.obolibrary.org/obo/DOID_8768	obsolete nodular lymphoma involving spleen				
http://purl.obolibrary.org/obo/DOID_8769	obsolete malignant histiocytosis involving lymph nodes of inguinal region and lower limb				
http://purl.obolibrary.org/obo/DOID_8770	obsolete reticulosarcoma involving intra-abdominal lymph nodes				
http://purl.obolibrary.org/obo/DOID_8773	obsolete nodular lymphoma involving lymph nodes of head, face, and neck				
http://purl.obolibrary.org/obo/DOID_8775	obsolete ulcerative proctosigmoiditis				
http://purl.obolibrary.org/obo/DOID_8794	obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intrathoracic lymph nodes				
http://purl.obolibrary.org/obo/DOID_8795	obsolete Hodgkin's granuloma involving spleen				
http://purl.obolibrary.org/obo/DOID_8798	obsolete Hodgkin's lymphoma, mixed cellularity, involving spleen				
http://purl.obolibrary.org/obo/DOID_8803	obsolete repetitive intrusions of sleep				
http://purl.obolibrary.org/obo/DOID_8806	obsolete malignant histiocytosis involving intrapelvic lymph nodes				
http://purl.obolibrary.org/obo/DOID_8807	obsolete allergic gastroenteritis and colitis				
http://purl.obolibrary.org/obo/DOID_8811	obsolete malignant histiocytosis involving intrathoracic lymph nodes				
http://purl.obolibrary.org/obo/DOID_8820	obsolete ulcerative ileocolitis				
http://purl.obolibrary.org/obo/DOID_8825	obsolete Hodgkin's paragranuloma involving spleen				
http://purl.obolibrary.org/obo/DOID_8828	obsolete systemic inflammatory response syndrome				
http://purl.obolibrary.org/obo/DOID_8832	obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of multiple sites				
http://purl.obolibrary.org/obo/DOID_8836	obsolete Burkitt's tumor or lymphoma involving lymph nodes of head, face, and neck				
http://purl.obolibrary.org/obo/DOID_8837	obsolete Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of head, face, and neck				
http://purl.obolibrary.org/obo/DOID_8844	obsolete tuberculous erythema nodosum				
http://purl.obolibrary.org/obo/DOID_8847	obsolete Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of multiple sites				
http://purl.obolibrary.org/obo/DOID_8852	obsolete Hodgkin's granuloma involving intra-abdominal lymph nodes				
http://purl.obolibrary.org/obo/DOID_8854	obsolete Hodgkin's lymphoma, lymphocytic depletion, involving intrathoracic lymph nodes				
http://purl.obolibrary.org/obo/DOID_8860	obsolete lymphosarcoma involving spleen				
http://purl.obolibrary.org/obo/DOID_8868	obsolete Mycosis fungoides involving lymph nodes of multiple sites				
http://purl.obolibrary.org/obo/DOID_8870	obsolete nodular lymphoma involving intrathoracic lymph nodes				
http://purl.obolibrary.org/obo/DOID_8871	obsolete Hodgkin's lymphoma, nodular sclerosis, extranodal and solid organ sites				
http://purl.obolibrary.org/obo/DOID_8875	obsolete Hodgkin's sarcoma involving lymph nodes of multiple sites				
http://purl.obolibrary.org/obo/DOID_889	obsolete inborn metabolic brain disease				
http://purl.obolibrary.org/obo/DOID_8903	obsolete Hodgkin's granuloma involving lymph nodes of axilla and upper limb				
http://purl.obolibrary.org/obo/DOID_8904	obsolete nodular lymphoma involving lymph nodes of inguinal region and lower limb				
http://purl.obolibrary.org/obo/DOID_8907	obsolete ulcerative proctitis				
http://purl.obolibrary.org/obo/DOID_8914	obsolete Burkitt's tumor or lymphoma involving intrapelvic lymph nodes				
http://purl.obolibrary.org/obo/DOID_8916	obsolete mycosis fungoides involving lymph nodes of axilla and upper limb				
http://purl.obolibrary.org/obo/DOID_8918	obsolete Hodgkin's sarcoma involving lymph nodes of inguinal region and lower limb				
http://purl.obolibrary.org/obo/DOID_8919	obsolete Mycosis fungoides involving lymph nodes of inguinal region and lower limb				
http://purl.obolibrary.org/obo/DOID_8921	obsolete noninflammatory vaginal disorder				
http://purl.obolibrary.org/obo/DOID_8928	obsolete lymphosarcoma involving lymph nodes of head, face, and neck				
http://purl.obolibrary.org/obo/DOID_8938	obsolete reticulosarcoma involving intrathoracic lymph nodes				
http://purl.obolibrary.org/obo/DOID_8939	obsolete Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of axilla and upper limb				
http://purl.obolibrary.org/obo/DOID_894	obsolete nervous system heredodegenerative disease				
http://purl.obolibrary.org/obo/DOID_895	obsolete copper metabolism disease				
http://purl.obolibrary.org/obo/DOID_8958	obsolete lymphosarcoma involving lymph nodes of axilla and upper limb				
http://purl.obolibrary.org/obo/DOID_8959	obsolete Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of inguinal region and lower limb				
http://purl.obolibrary.org/obo/DOID_8964	obsolete Hodgkin's sarcoma involving spleen				
http://purl.obolibrary.org/obo/DOID_8973	obsolete Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of multiple sites				
http://purl.obolibrary.org/obo/DOID_8974	obsolete Burkitt's tumor or lymphoma involving lymph nodes of axilla and upper limb				
http://purl.obolibrary.org/obo/DOID_8976	obsolete peripheral lymph node tuberculosis				
http://purl.obolibrary.org/obo/DOID_8977	obsolete malignant histiocytosis involving lymph nodes of head, face, and neck				
http://purl.obolibrary.org/obo/DOID_8978	obsolete Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of inguinal region and lower limb				
http://purl.obolibrary.org/obo/DOID_8979	obsolete Hodgkin's lymphoma, lymphocytic depletion, involving intrapelvic lymph nodes				
http://purl.obolibrary.org/obo/DOID_8980	obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving spleen				
http://purl.obolibrary.org/obo/DOID_8990	obsolete Hodgkin's granuloma involving lymph nodes of multiple sites				
http://purl.obolibrary.org/obo/DOID_8992	obsolete Hodgkin's granuloma involving lymph nodes of inguinal region and lower limb				
http://purl.obolibrary.org/obo/DOID_8994	obsolete Hodgkin's sarcoma involving lymph nodes of head, face, and neck				
http://purl.obolibrary.org/obo/DOID_8995	obsolete malignant histiocytosis involving intra-abdominal lymph nodes				
http://purl.obolibrary.org/obo/DOID_9001	obsolete Hodgkin's lymphoma, nodular sclerosis, involving spleen				
http://purl.obolibrary.org/obo/DOID_9010	obsolete Burkitt's tumor or lymphoma involving lymph nodes of multiple sites				
http://purl.obolibrary.org/obo/DOID_9017	obsolete Sezary's disease involving lymph nodes of axilla and upper limb				
http://purl.obolibrary.org/obo/DOID_9019	obsolete Mycosis fungoides involving spleen				
http://purl.obolibrary.org/obo/DOID_902	obsolete malignant non-epithelial hepatic and intrahepatic bile duct neoplasm				
http://purl.obolibrary.org/obo/DOID_9020	obsolete reticulosarcoma involving spleen				
http://purl.obolibrary.org/obo/DOID_9025	obsolete Hodgkin's lymphoma, nodular sclerosis, involving intra-abdominal lymph nodes				
http://purl.obolibrary.org/obo/DOID_9033	obsolete Hodgkin's sarcoma involving lymph nodes of axilla and upper limb				
http://purl.obolibrary.org/obo/DOID_9037	obsolete Burkitt's tumor or lymphoma involving lymph nodes of inguinal region and lower limb				
http://purl.obolibrary.org/obo/DOID_9039	obsolete Hodgkin's paragranuloma involving lymph nodes of head, face, and neck				
http://purl.obolibrary.org/obo/DOID_9040	obsolete reticulosarcoma involving lymph nodes of head, face, and neck				
http://purl.obolibrary.org/obo/DOID_9041	obsolete Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of axilla and upper limb				
http://purl.obolibrary.org/obo/DOID_9046	obsolete nodular lymphoma involving lymph nodes of multiple sites				
http://purl.obolibrary.org/obo/DOID_9052	obsolete Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of axilla and upper limb				
http://purl.obolibrary.org/obo/DOID_9054	obsolete lymphosarcoma involving intrathoracic lymph nodes				
http://purl.obolibrary.org/obo/DOID_9061	obsolete alcohol induced sleep disorder				
http://purl.obolibrary.org/obo/DOID_9064	obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance, extranodal and solid organ sites				
http://purl.obolibrary.org/obo/DOID_9067	obsolete Hodgkin's paragranuloma involving intrathoracic lymph nodes				
http://purl.obolibrary.org/obo/DOID_9070	obsolete pseudopolyposis of colon				
http://purl.obolibrary.org/obo/DOID_9071	obsolete malignant histiocytosis involving spleen				
http://purl.obolibrary.org/obo/DOID_9078	obsolete Hodgkin's paragranuloma involving intrapelvic lymph nodes				
http://purl.obolibrary.org/obo/DOID_9079	obsolete Hodgkin's paragranuloma involving lymph nodes of multiple sites				
http://purl.obolibrary.org/obo/DOID_9082	obsolete mycosis fungoides involving intrathoracic lymph nodes				
http://purl.obolibrary.org/obo/DOID_9084	obsolete Hodgkin's lymphoma, mixed cellularity, involving intra-abdominal lymph nodes				
http://purl.obolibrary.org/obo/DOID_9092	obsolete Hodgkin's sarcoma involving intrathoracic lymph nodes				
http://purl.obolibrary.org/obo/DOID_9093	obsolete Hodgkin's paragranuloma involving intra-abdominal lymph nodes				
http://purl.obolibrary.org/obo/DOID_9103	obsolete carcinoma in situ of male genital organs				
http://purl.obolibrary.org/obo/DOID_9105	obsolete mycosis fungoides involving intrapelvic lymph nodes				
http://purl.obolibrary.org/obo/DOID_9109	obsolete mycosis fungoides involving intra-abdominal lymph nodes				
http://purl.obolibrary.org/obo/DOID_9117	obsolete Hodgkin's lymphoma, lymphocytic depletion, involving spleen				
http://purl.obolibrary.org/obo/DOID_9121	obsolete Hodgkin's lymphoma, mixed cellularity, extranodal and solid organ sites				
http://purl.obolibrary.org/obo/DOID_9124	obsolete Hodgkin's lymphoma, lymphocytic depletion, involving intra-abdominal lymph nodes				
http://purl.obolibrary.org/obo/DOID_9130	obsolete Hodgkin's lymphoma, nodular sclerosis, involving intrapelvic lymph nodes				
http://purl.obolibrary.org/obo/DOID_9142	obsolete Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of multiple sites				
http://purl.obolibrary.org/obo/DOID_9143	obsolete Burkitt's tumor or lymphoma involving spleen				
http://purl.obolibrary.org/obo/DOID_9150	obsolete Hodgkin's lymphoma, mixed cellularity, involving intrapelvic lymph nodes				
http://purl.obolibrary.org/obo/DOID_9157	obsolete Hodgkin's lymphoma, nodular sclerosis, involving intrathoracic lymph nodes				
http://purl.obolibrary.org/obo/DOID_9158	obsolete Sezary's disease involving intra-abdominal lymph nodes				
http://purl.obolibrary.org/obo/DOID_9161	obsolete Sezary's disease involving intrapelvic lymph nodes				
http://purl.obolibrary.org/obo/DOID_9184	obsolete sleep arousal disorder				
http://purl.obolibrary.org/obo/DOID_9186	obsolete Hodgkin's paragranuloma involving lymph nodes of inguinal region and lower limb				
http://purl.obolibrary.org/obo/DOID_9189	obsolete generalized hyperhidrosis				
http://purl.obolibrary.org/obo/DOID_9198	obsolete Sezary's disease involving intrathoracic lymph nodes				
http://purl.obolibrary.org/obo/DOID_9199	obsolete cataplexy and narcolepsy				
http://purl.obolibrary.org/obo/DOID_920	obsolete childhood liver neoplasm				
http://purl.obolibrary.org/obo/DOID_9202	obsolete disorder of optic chiasm associated with pituitary neoplasm and disorder				
http://purl.obolibrary.org/obo/DOID_9203	obsolete Burkitt's tumor or lymphoma involving intra-abdominal lymph nodes				
http://purl.obolibrary.org/obo/DOID_9216	obsolete Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of head, face, and neck				
http://purl.obolibrary.org/obo/DOID_9222	obsolete lymphosarcoma involving lymph nodes of inguinal region and lower limb				
http://purl.obolibrary.org/obo/DOID_9224	obsolete vulva herpetic infectious disease				
http://purl.obolibrary.org/obo/DOID_9225	obsolete Hodgkin's sarcoma involving intrapelvic lymph nodes				
http://purl.obolibrary.org/obo/DOID_9227	obsolete Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of head, face, and neck				
http://purl.obolibrary.org/obo/DOID_9241	obsolete reticulosarcoma involving lymph nodes of axilla and upper limb				
http://purl.obolibrary.org/obo/DOID_9264	obsolete sulfuraminoacidemia				
http://purl.obolibrary.org/obo/DOID_927	obsolete metastatic malignant neoplasm to brain				
http://purl.obolibrary.org/obo/DOID_928	obsolete CNS metastases				
http://purl.obolibrary.org/obo/DOID_9287	obsolete penile vascular disorder				
http://purl.obolibrary.org/obo/DOID_9314	obsolete glaucoma associated with anomalies of iris				
http://purl.obolibrary.org/obo/DOID_9321	obsolete intervertebral disc disorder				
http://purl.obolibrary.org/obo/DOID_9340	obsolete cheilopalatoschisis				
http://purl.obolibrary.org/obo/DOID_9353	obsolete congenital hip dislocation				
http://purl.obolibrary.org/obo/DOID_9357	obsolete hyperemesis gravidarum				
http://purl.obolibrary.org/obo/DOID_9359	obsolete enthesopathy of knee				
http://purl.obolibrary.org/obo/DOID_9377	obsolete pigment dispersion syndrome of iris				
http://purl.obolibrary.org/obo/DOID_9379	obsolete glaucoma with ocular inflammation				
http://purl.obolibrary.org/obo/DOID_9385	obsolete gonococcal eye infectious disease				
http://purl.obolibrary.org/obo/DOID_9403	obsolete isolated explosive disorder				
http://purl.obolibrary.org/obo/DOID_9405	obsolete pituitary dwarfism				
http://purl.obolibrary.org/obo/DOID_9411	obsolete gonococcal endocarditis				
http://purl.obolibrary.org/obo/DOID_9413	obsolete Congenital abnormalities of uterus complicating pregnancy, childbirth, or the puerperium				
http://purl.obolibrary.org/obo/DOID_9414	obsolete abnormality of organs and soft tissues of pelvis complicating pregnancy, childbirth, or the puerperium				
http://purl.obolibrary.org/obo/DOID_9422	obsolete abscess of eyelid				
http://purl.obolibrary.org/obo/DOID_9443	obsolete cervix blue nevus				
http://purl.obolibrary.org/obo/DOID_9450	obsolete infectious disease of the breast and nipple associated with childbirth				
http://purl.obolibrary.org/obo/DOID_9468	obsolete Salmonella meningitis				
http://purl.obolibrary.org/obo/DOID_951	obsolete toxic myopathy				
http://purl.obolibrary.org/obo/DOID_9514	obsolete multiple myeloma and immunoproliferative neoplasm				
http://purl.obolibrary.org/obo/DOID_9518	obsolete abortion complicated by renal failure				
http://purl.obolibrary.org/obo/DOID_9528	obsolete acute renal failure with lesion of renal medullary necrosis				
http://purl.obolibrary.org/obo/DOID_9530	obsolete Rhesus isoimmunisation affecting management of mother				
http://purl.obolibrary.org/obo/DOID_9543	obsolete plasma cell myeloma PTLD				
http://purl.obolibrary.org/obo/DOID_9545	obsolete recurrent plasma cell neoplasm				
http://purl.obolibrary.org/obo/DOID_955	obsolete benign neurilemmoma				
http://purl.obolibrary.org/obo/DOID_9552	obsolete adrenal gland hypofunction				
http://purl.obolibrary.org/obo/DOID_9579	obsolete Pseudomonas septicemia				
http://purl.obolibrary.org/obo/DOID_9594	obsolete ovarian metastasis				
http://purl.obolibrary.org/obo/DOID_9630	obsolete genetic anomaly of leucocyte				
http://purl.obolibrary.org/obo/DOID_9642	obsolete rheumatic chorea				
http://purl.obolibrary.org/obo/DOID_9647	obsolete obstructed labor				
http://purl.obolibrary.org/obo/DOID_9653	obsolete Pre-eclampsia or eclampsia superimposed on pre-existing hypertension				
http://purl.obolibrary.org/obo/DOID_9654	obsolete hypertension complicating pregnancy, childbirth and the puerperium				
http://purl.obolibrary.org/obo/DOID_9678	obsolete cervical incompetence complicating pregnancy, childbirth, or the puerperium				
http://purl.obolibrary.org/obo/DOID_9718	obsolete meningococcal myocarditis				
http://purl.obolibrary.org/obo/DOID_972	obsolete malignant neoplasm of cerebrum except lobes and ventricles				
http://purl.obolibrary.org/obo/DOID_9728	obsolete vitreous membranes and strands				
http://purl.obolibrary.org/obo/DOID_9729	obsolete crystalline deposits in vitreous				
http://purl.obolibrary.org/obo/DOID_9734	obsolete urinary tuberculosis				
http://purl.obolibrary.org/obo/DOID_9751	obsolete popliteal cyst				
http://purl.obolibrary.org/obo/DOID_9753	obsolete rupture of synovium				
http://purl.obolibrary.org/obo/DOID_9761	obsolete arthropathy associated with dermatological disorder				
http://purl.obolibrary.org/obo/DOID_9762	obsolete perinatal cyanotic attack				
http://purl.obolibrary.org/obo/DOID_9764	obsolete biliary calculus with cholecystitis				
http://purl.obolibrary.org/obo/DOID_9770	obsolete Retracted nipple associated with childbirth				
http://purl.obolibrary.org/obo/DOID_9772	obsolete hematological disease of fetus and newborn				
http://purl.obolibrary.org/obo/DOID_9787	obsolete Foreign body granuloma of muscle				
http://purl.obolibrary.org/obo/DOID_9795	obsolete tuberculous meningitis				
http://purl.obolibrary.org/obo/DOID_98	obsolete staphylococcal infectious disease				
http://purl.obolibrary.org/obo/DOID_9805	obsolete pneumococcal infectious disease				
http://purl.obolibrary.org/obo/DOID_9815	obsolete Recent retinal detachment, total or subtotal				
http://purl.obolibrary.org/obo/DOID_9816	obsolete partial recent retinal detachment with giant tear				
http://purl.obolibrary.org/obo/DOID_9818	obsolete retinal defect				
http://purl.obolibrary.org/obo/DOID_9819	obsolete delimited old retinal detachment				
http://purl.obolibrary.org/obo/DOID_982	obsolete disorganized type schizophrenia subchronic state with acute exacerbation				
http://purl.obolibrary.org/obo/DOID_9823	obsolete Partial recent retinal detachment with retinal dialysis				
http://purl.obolibrary.org/obo/DOID_9824	obsolete total or subtotal old retinal detachment				
http://purl.obolibrary.org/obo/DOID_9829	obsolete drug abstinence syndrome or symptom				
http://purl.obolibrary.org/obo/DOID_9836	obsolete refraction or accommodation disorder				
http://purl.obolibrary.org/obo/DOID_984	obsolete temporomandibular joint disorder				
http://purl.obolibrary.org/obo/DOID_985	obsolete disorganized type schizophrenia subchronic state				
http://purl.obolibrary.org/obo/DOID_9855	obsolete syphilitic interstitial keratitis				
http://purl.obolibrary.org/obo/DOID_9866	obsolete lactation disorder				
http://purl.obolibrary.org/obo/DOID_9878	obsolete Excessive vomiting starting after 22 completed weeks of gestation				
http://purl.obolibrary.org/obo/DOID_9889	obsolete alternating esotropia with A pattern				
http://purl.obolibrary.org/obo/DOID_9890	obsolete intermittent alternating esotropia				
http://purl.obolibrary.org/obo/DOID_9891	obsolete alternating esotropia with V pattern				
http://purl.obolibrary.org/obo/DOID_9899	obsolete glaucoma associated with tumors or cysts				
http://purl.obolibrary.org/obo/DOID_9900	obsolete protracted reactive paranoid psychosis				
http://purl.obolibrary.org/obo/DOID_9913	obsolete axillary metastasis				
http://purl.obolibrary.org/obo/DOID_9915	obsolete malignant neoplasm of ribs, sternum and clavicle				
http://purl.obolibrary.org/obo/DOID_9916	obsolete secondary malignant neoplasm to the chest wall				
http://purl.obolibrary.org/obo/DOID_9919	obsolete malignant neoplasm of thoracic esophagus				
http://purl.obolibrary.org/obo/DOID_9925	obsolete hyperostosis frontalis interna				
http://purl.obolibrary.org/obo/DOID_9929	obsolete meningococcal meningitis				
http://purl.obolibrary.org/obo/DOID_9930	obsolete primary Neisseriaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_9940	obsolete Congenital or acquired abnormality of vulva complicating pregnancy, childbirth, or the puerperium				
http://purl.obolibrary.org/obo/DOID_9943	obsolete syphilitic episcleritis				
http://purl.obolibrary.org/obo/DOID_9989	obsolete metastasis to the orbit				
http://purl.obolibrary.org/obo/DOID_9995	obsolete endocrine and metabolic disturbances specific to the fetus and newborn				
http://purl.obolibrary.org/obo/CL_0000000	cell				
http://purl.obolibrary.org/obo/DOID_0050001	obsolete Actinomadura madurae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050002	obsolete Actinomadura pelletieri infectious disease				
http://purl.obolibrary.org/obo/DOID_0050003	obsolete Streptomyces somaliensis infectious disease				
http://purl.obolibrary.org/obo/DOID_0050024	obsolete Ehrlichia ewingii ehrlichiosis				
http://purl.obolibrary.org/obo/DOID_0050053	obsolete Rickettsia honei spotted fever				
http://purl.obolibrary.org/obo/DOID_0050063	obsolete abortive plague				
http://purl.obolibrary.org/obo/DOID_0050065	obsolete cutaneous listeriosis				
http://purl.obolibrary.org/obo/DOID_0050066	obsolete Listeria meningoencephalitis				
http://purl.obolibrary.org/obo/DOID_0050067	obsolete Listeria septicaemia				
http://purl.obolibrary.org/obo/DOID_0050069	obsolete Yersinia pestis infectious disease				
http://purl.obolibrary.org/obo/DOID_0050070	obsolete plague meningitis				
http://purl.obolibrary.org/obo/DOID_0050078	obsolete cervix tuberculosis				
http://purl.obolibrary.org/obo/DOID_0050079	obsolete niacin deficiency				
http://purl.obolibrary.org/obo/DOID_0050080	obsolete iodine deficiency				
http://purl.obolibrary.org/obo/DOID_0050123	obsolete tuberculous encephalitis				
http://purl.obolibrary.org/obo/DOID_0050162	obsolete influenza encephalopathy				
http://purl.obolibrary.org/obo/DOID_0050163	obsolete influenza myocarditis				
http://purl.obolibrary.org/obo/DOID_0050164	obsolete influenza myositis				
http://purl.obolibrary.org/obo/DOID_0050265	obsolete tick paralysis				
http://purl.obolibrary.org/obo/DOID_0050267	obsolete Ancylostoma caninum ancylostomiasis				
http://purl.obolibrary.org/obo/DOID_0050297	obsolete primary Francisellaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050306	obsolete familial abdominal aortic aneurysm				
http://purl.obolibrary.org/obo/DOID_0050310	obsolete primary Listeriaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050311	obsolete primary Helicobacteraceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050312	obsolete primary Campylobacteraceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050313	obsolete primary Brucellaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050314	obsolete primary Erysipelotrichaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050315	obsolete commensal Clostridiaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050316	obsolete commensal Staphylococcaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050317	obsolete commensal Streptococcaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050318	obsolete primary Burkholderiaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050319	obsolete primary Legionellaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050320	obsolete commensal Alcaligenaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050321	obsolete opportunistic Pseudomonadaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050322	obsolete primary Vibrionaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050323	obsolete primary Coxiellaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050327	obsolete peripheral dysostosis				
http://purl.obolibrary.org/obo/DOID_0050333	obsolete congenital anosmia				
http://purl.obolibrary.org/obo/DOID_0050334	obsolete thiourea tasting				
http://purl.obolibrary.org/obo/DOID_0050337	obsolete Burkholderia cepacia infectious disease				
http://purl.obolibrary.org/obo/DOID_0050341	obsolete opportunistic Actinomycetales infectious disease				
http://purl.obolibrary.org/obo/DOID_0050343	obsolete Gardnerella vaginalis vaginosis				
http://purl.obolibrary.org/obo/DOID_0050344	obsolete commensal Bifidobacteriaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050345	obsolete primary Thermomonosporaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050346	obsolete primary Corynebacteriaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050347	obsolete primary Mycobacteriaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050348	obsolete primary Streptomycetaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050349	obsolete opportunistic Nocardiaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050350	obsolete primary Clostridiaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050351	obsolete primary Clostridium infectious disease				
http://purl.obolibrary.org/obo/DOID_0050355	obsolete opportunistic Burkholderiaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050357	obsolete Burkholderia cenocepacia infectious disease				
http://purl.obolibrary.org/obo/DOID_0050358	obsolete commensal Chlamydiaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050359	obsolete Bilophila wadsworthia necrotizing fasciitis				
http://purl.obolibrary.org/obo/DOID_0050360	obsolete commensal Enterobacteriaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050361	obsolete opportunistic Enterobacteriaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050362	obsolete Elizabethkingia meningoseptica infectious disease				
http://purl.obolibrary.org/obo/DOID_0050363	obsolete Capnocytophaga canimorsus infectious disease				
http://purl.obolibrary.org/obo/DOID_0050364	obsolete opportunistic Flavobacteriaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050365	obsolete Chryseobacterium indologenes infectious disease				
http://purl.obolibrary.org/obo/DOID_0050366	obsolete Empedobacter brevis endophthalmitis				
http://purl.obolibrary.org/obo/DOID_0050367	obsolete Myroides odoratus necrotizing fasciitis				
http://purl.obolibrary.org/obo/DOID_0050368	obsolete commensal Fusobacteriaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050369	obsolete primary Mycoplasmataceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050370	obsolete commensal Neisseriaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050371	obsolete commensal Pasteurellaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050372	obsolete commensal Haemophilus infectious disease				
http://purl.obolibrary.org/obo/DOID_0050373	obsolete Leptospiraceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050374	obsolete Spirochaetaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050375	obsolete primary Spirillaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050376	obsolete anaplasmosis				
http://purl.obolibrary.org/obo/DOID_0050377	obsolete Burkholderia cepacia complex infectious disease				
http://purl.obolibrary.org/obo/DOID_0050378	obsolete opportunistic Campylobacteraceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050379	obsolete Campylobacter fetus infectious disease				
http://purl.obolibrary.org/obo/DOID_0050380	obsolete Campylobacter coli infectious disease				
http://purl.obolibrary.org/obo/DOID_0050381	obsolete Chlamydia trachomatis epididymitis				
http://purl.obolibrary.org/obo/DOID_0050384	obsolete commensal Helicobacteraceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050385	obsolete commensal Helicobacter infectious disease				
http://purl.obolibrary.org/obo/DOID_0050386	obsolete Acinetobacter baumannii pneumonia				
http://purl.obolibrary.org/obo/DOID_0050388	obsolete Bacteroides fragilis peritonitis				
http://purl.obolibrary.org/obo/DOID_0050389	obsolete Capnocytophaga canimorsus meningitis				
http://purl.obolibrary.org/obo/DOID_0050390	obsolete Capnocytophaga canimorsus endocarditis				
http://purl.obolibrary.org/obo/DOID_0050391	obsolete Elizabethkingia meningoseptica meningitis				
http://purl.obolibrary.org/obo/DOID_0050392	obsolete streptococcal necrotizing fasciitis				
http://purl.obolibrary.org/obo/DOID_0050393	obsolete Chryseobacterium indologenes pneumonia				
http://purl.obolibrary.org/obo/DOID_0050394	obsolete nocardial pneumonia				
http://purl.obolibrary.org/obo/DOID_0050395	obsolete nocardial cellulitis				
http://purl.obolibrary.org/obo/DOID_0050396	obsolete nocardial keratitis				
http://purl.obolibrary.org/obo/DOID_0050397	obsolete cerebral Bilophila wadsworthia infectious disease				
http://purl.obolibrary.org/obo/DOID_0050399	obsolete Bordetella pertussis whooping cough				
http://purl.obolibrary.org/obo/DOID_0050400	obsolete Pseudomonas urinary tract infectious disease				
http://purl.obolibrary.org/obo/DOID_0050401	obsolete Pseudomonas endocarditis				
http://purl.obolibrary.org/obo/DOID_0050402	obsolete Pseudomonas keratitis				
http://purl.obolibrary.org/obo/DOID_0050403	obsolete commensal Mycoplasmatales infectious disease				
http://purl.obolibrary.org/obo/DOID_0050404	obsolete commensal Mycoplasmataceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050405	obsolete Mycoplasma genitalium urethritis				
http://purl.obolibrary.org/obo/DOID_0050406	obsolete Yersinia pseudotuberculosis mesenteric lymphadenitis				
http://purl.obolibrary.org/obo/DOID_0050407	obsolete commensal Mycoplasma infectious disease				
http://purl.obolibrary.org/obo/DOID_0050408	obsolete Staphylococcus aureus ecthyma				
http://purl.obolibrary.org/obo/DOID_0050409	obsolete Streptococcus pyogenes ecthyma				
http://purl.obolibrary.org/obo/DOID_0050410	obsolete streptococcal erysipelas				
http://purl.obolibrary.org/obo/DOID_0050411	obsolete Staphylococcus aureus erysipelas				
http://purl.obolibrary.org/obo/DOID_0050412	obsolete Streptococcus impetigo				
http://purl.obolibrary.org/obo/DOID_0050413	obsolete Staphylococcus aureus impetigo				
http://purl.obolibrary.org/obo/DOID_0050414	obsolete Streptococcus lymphangitis				
http://purl.obolibrary.org/obo/DOID_0050415	obsolete Staphylococcus aureus lymphangitis				
http://purl.obolibrary.org/obo/DOID_0050416	obsolete Streptococcus agalactiae meningitis				
http://purl.obolibrary.org/obo/DOID_0050417	obsolete Streptococcus equisimilis meningitis				
http://purl.obolibrary.org/obo/DOID_0050418	obsolete Streptococcus zooepidemicus meningitis				
http://purl.obolibrary.org/obo/DOID_0050420	obsolete primary Streptococcaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050421	obsolete primary streptococcal infectious disease				
http://purl.obolibrary.org/obo/DOID_0050422	obsolete Yersinia pseudotuberculosis gastroenteritis				
http://purl.obolibrary.org/obo/DOID_0050423	obsolete enteroaggregative Escherichia coli infectious disease				
http://purl.obolibrary.org/obo/DOID_0050455	obsolete arachnodactyly				
http://purl.obolibrary.org/obo/DOID_0050478	obsolete primary Escherichia coli infectious disease				
http://purl.obolibrary.org/obo/DOID_0050479	obsolete commensal Klebsiella infectious disease				
http://purl.obolibrary.org/obo/DOID_0050482	obsolete lymphangitis-associated rickettsiosis				
http://purl.obolibrary.org/obo/DOID_0050483	obsolete Rickettsia aeschlimannii spotted fever				
http://purl.obolibrary.org/obo/DOID_0050492	obsolete tertiary syphilitic encephalitis				
http://purl.obolibrary.org/obo/DOID_0050493	obsolete tertiary syphilitic meningitis				
http://purl.obolibrary.org/obo/DOID_0050507	obsolete AIDS-related cryptosporidiosis				
http://purl.obolibrary.org/obo/DOID_0050509	obsolete AIDS-related toxoplasmosis				
http://purl.obolibrary.org/obo/DOID_0050510	obsolete AIDS-related cystoisosporiasis				
http://purl.obolibrary.org/obo/DOID_0050525	obsolete acroosteolysis				
http://purl.obolibrary.org/obo/DOID_0050527	obsolete familial hypertriglyceridemia				
http://purl.obolibrary.org/obo/DOID_0050531	obsolete lentiginosis profusa				
http://purl.obolibrary.org/obo/DOID_0050532	obsolete epidermal nevus				
http://purl.obolibrary.org/obo/DOID_0050533	obsolete soldiers heart				
http://purl.obolibrary.org/obo/DOID_0050550	obsolete Majewski syndrome				
http://purl.obolibrary.org/obo/DOID_0050551	obsolete Verma-Naumoff syndrome				
http://purl.obolibrary.org/obo/DOID_0050583	obsolete Chlamydophila pneumoniae infectious disease				
http://purl.obolibrary.org/obo/DOID_0050616	obsolete malignant Leydig cell tumor				
http://purl.obolibrary.org/obo/DOID_0050617	obsolete malignant Sertoli cell tumor				
http://purl.obolibrary.org/obo/DOID_0050618	obsolete malignant Sertoli-Leydig cell tumor				
http://purl.obolibrary.org/obo/DOID_0050643	obsolete anonychia congenita				
http://purl.obolibrary.org/obo/DOID_0050652	obsolete soft tissue cancer				
http://purl.obolibrary.org/obo/DOID_0050653	obsolete dysplastic nevus				
http://purl.obolibrary.org/obo/DOID_0050707	obsolete nonsyndromic epilepsy				
http://purl.obolibrary.org/obo/DOID_0050756	obsolete CLN3 disease				
http://purl.obolibrary.org/obo/DOID_0050761	obsolete paramyloidosis				
http://purl.obolibrary.org/obo/DOID_0050875	obsolete small cell neuroendocrine carcinoma of the lung				
http://purl.obolibrary.org/obo/DOID_0050878	obsolete CLONE OF congenital afibrinogenemia				
http://purl.obolibrary.org/obo/DOID_0060069	obsolete Bacillus cereus pneumonia				
http://purl.obolibrary.org/obo/DOID_0060120	obsolete skeletal system benign neoplasm				
http://purl.obolibrary.org/obo/DOID_0060171	obsolete Dravet syndrome				
http://purl.obolibrary.org/obo/DOID_0060600	obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum				
http://purl.obolibrary.org/obo/DOID_0080013	obsolete mitochondrial disease				
http://purl.obolibrary.org/obo/DOID_0080017	obsolete olivopontocerebellar atrophy V				
http://purl.obolibrary.org/obo/DOID_0080022	obsolete McKusick type metaphyseal dysplasia				
http://purl.obolibrary.org/obo/DOID_0080023	obsolete Shwachman-Diamond type metaphyseal dysplasia				
http://purl.obolibrary.org/obo/DOID_0080024	obsolete Pyles dysplasia				
http://purl.obolibrary.org/obo/DOID_0080048	obsolete trichorhinophalangeal syndrome I				
http://purl.obolibrary.org/obo/DOID_0080088	obsolete nonsyndromic congenital nail disorder 10				
http://purl.obolibrary.org/obo/DOID_0110172	obsolete Charcot-Marie-Tooth disease axonal type 2G				
http://purl.obolibrary.org/obo/DOID_0110286	obsolete autosomal recessive limb-girdle muscular dystrophy type 2R				
http://purl.obolibrary.org/obo/DOID_0110300	obsolete autosomal dominant limb-girdle muscular dystrophy type 1A				
http://purl.obolibrary.org/obo/DOID_0110301	obsolete autosomal dominant limb-girdle muscular dystrophy type 1B				
http://purl.obolibrary.org/obo/DOID_0110302	obsolete autosomal dominant limb-girdle muscular dystrophy type 1C				
http://purl.obolibrary.org/obo/DOID_0110325	obsolete hypertrophic cardiomyopathy 19				
http://purl.obolibrary.org/obo/DOID_0110466	obsolete autosomal recessive nonsyndromic deafness 105				
http://purl.obolibrary.org/obo/DOID_0110748	obsolete type 1 diabetes mellitus 9				
http://purl.obolibrary.org/obo/DOID_0110762	obsolete hereditary spastic paraplegia 1				
http://purl.obolibrary.org/obo/DOID_10000	obsolete visual cortex disorder due to neoplasm				
http://purl.obolibrary.org/obo/DOID_1001	obsolete labor complications				
http://purl.obolibrary.org/obo/DOID_10012	obsolete metastatic malignant neoplasm to the thyroid				
http://purl.obolibrary.org/obo/DOID_10013	obsolete polyglandular activity in multiple endocrine adenomatosis				
http://purl.obolibrary.org/obo/DOID_10015	obsolete polyglandular dysfunction				
http://purl.obolibrary.org/obo/DOID_10018	obsolete papilledema associated with increased intracranial pressure				
http://purl.obolibrary.org/obo/DOID_10038	obsolete old burn scar-related melanoma of skin				
http://purl.obolibrary.org/obo/DOID_10042	obsolete regressing skin melanoma				
http://purl.obolibrary.org/obo/DOID_10045	obsolete malignant giant pigmented nevus melanoma				
http://purl.obolibrary.org/obo/DOID_10048	obsolete malignant junctional nevus melanoma				
http://purl.obolibrary.org/obo/DOID_10053	obsolete malignant skin blue nevus				
http://purl.obolibrary.org/obo/DOID_10059	obsolete Congenital or acquired abnormality of vagina complicating pregnancy, childbirth, or the puerperium				
http://purl.obolibrary.org/obo/DOID_10111	obsolete Congenital or acquired abnormality of vagina, with delivery				
http://purl.obolibrary.org/obo/DOID_10120	obsolete eyelid degenerative disease				
http://purl.obolibrary.org/obo/DOID_10121	obsolete degenerative disorder of eyelid and periocular area				
http://purl.obolibrary.org/obo/DOID_10141	obsolete asthenopia				
http://purl.obolibrary.org/obo/DOID_10142	obsolete Chlamydia trachomatis peritonitis				
http://purl.obolibrary.org/obo/DOID_10144	obsolete secondary malignant neoplasm to the thymus				
http://purl.obolibrary.org/obo/DOID_10145	obsolete metastases to mediastinum				
http://purl.obolibrary.org/obo/DOID_1016	obsolete primary tuberculosis				
http://purl.obolibrary.org/obo/DOID_10173	obsolete tuberculous myelitis				
http://purl.obolibrary.org/obo/DOID_10182	obsolete diabetic peripheral angiopathy				
http://purl.obolibrary.org/obo/DOID_10191	obsolete autosomal deletion syndrome				
http://purl.obolibrary.org/obo/DOID_10202	obsolete lipoma of intrathoracic organ				
http://purl.obolibrary.org/obo/DOID_10204	obsolete lipoma of intra-abdominal organ				
http://purl.obolibrary.org/obo/DOID_10210	obsolete calculus of gallbladder and bile duct without cholecystitis				
http://purl.obolibrary.org/obo/DOID_10220	obsolete failed induction				
http://purl.obolibrary.org/obo/DOID_10222	obsolete polymyositis				
http://purl.obolibrary.org/obo/DOID_10226	obsolete single episode manic disorder				
http://purl.obolibrary.org/obo/DOID_10229	obsolete partial epilepsy, with impairment of consciousness, with intractable epilepsy				
http://purl.obolibrary.org/obo/DOID_10238	obsolete malignant neoplasm of rectum, rectosigmoid junction and anus				
http://purl.obolibrary.org/obo/DOID_10239	obsolete malignant neoplasm of pelvic bones, sacrum and coccyx				
http://purl.obolibrary.org/obo/DOID_10240	obsolete malignant neoplasm of pelvis				
http://purl.obolibrary.org/obo/DOID_10245	obsolete delayed separation of umbilical cord				
http://purl.obolibrary.org/obo/DOID_10255	obsolete conjunctival degenerations and deposits				
http://purl.obolibrary.org/obo/DOID_10256	obsolete vitamin A deficiency with conjunctival xerosis				
http://purl.obolibrary.org/obo/DOID_10257	obsolete vitamin A deficiency				
http://purl.obolibrary.org/obo/DOID_10265	obsolete hairy cell leukemia of spleen				
http://purl.obolibrary.org/obo/DOID_10274	obsolete schizo-affective type schizophrenia in remission				
http://purl.obolibrary.org/obo/DOID_10278	obsolete Vasa previa complicating labor and delivery				
http://purl.obolibrary.org/obo/DOID_10279	obsolete Vasa previa				
http://purl.obolibrary.org/obo/DOID_10280	obsolete Vasa previa complicating labor and delivery, delivered				
http://purl.obolibrary.org/obo/DOID_10288	obsolete metastasis to prostate				
http://purl.obolibrary.org/obo/DOID_10294	obsolete intermittent monocular esotropia				
http://purl.obolibrary.org/obo/DOID_10295	obsolete monocular esotropia with A pattern				
http://purl.obolibrary.org/obo/DOID_10296	obsolete monocular esotropia with V pattern				
http://purl.obolibrary.org/obo/DOID_10332	obsolete disorder of optic chiasm due to vascular disorder				
http://purl.obolibrary.org/obo/DOID_10334	obsolete craniofacial abnormality				
http://purl.obolibrary.org/obo/DOID_10338	obsolete subchronic schizophrenia				
http://purl.obolibrary.org/obo/DOID_10339	obsolete schizophrenia simplex				
http://purl.obolibrary.org/obo/DOID_10340	obsolete residual subchronic schizophrenia				
http://purl.obolibrary.org/obo/DOID_10342	obsolete subchronic latent schizophrenia				
http://purl.obolibrary.org/obo/DOID_10343	obsolete latent schizophrenia				
http://purl.obolibrary.org/obo/DOID_10351	obsolete mammary duct ectasia				
http://purl.obolibrary.org/obo/DOID_10367	obsolete metastatic tumor to the epididymis				
http://purl.obolibrary.org/obo/DOID_1038	obsolete mature T-cell neoplasm				
http://purl.obolibrary.org/obo/DOID_10380	obsolete precipitate labor				
http://purl.obolibrary.org/obo/DOID_10381	obsolete staphylococcal meningitis				
http://purl.obolibrary.org/obo/DOID_10384	obsolete papilledema associated with decreased ocular pressure				
http://purl.obolibrary.org/obo/DOID_1042	obsolete Generalized infection during labor				
http://purl.obolibrary.org/obo/DOID_10437	obsolete metastasis to lymph node				
http://purl.obolibrary.org/obo/DOID_1044	obsolete nontraumatic rupture of muscle				
http://purl.obolibrary.org/obo/DOID_10444	ring corneal ulcer	http://purl.obolibrary.org/obo/DOID_8463	corneal ulcer		A corneal ulcer that is characterized by a ring of infiltration and/or ulceration that forms on the cornea.
http://purl.obolibrary.org/obo/DOID_10445	perforated corneal ulcer	http://purl.obolibrary.org/obo/DOID_8463	corneal ulcer		A corneal ulcer that has progressed and thinned the cornea such that the cornea ruptures, leaving a small hole that may drain or appear to contain pigment.
http://purl.obolibrary.org/obo/DOID_10456	tonsillitis	http://purl.obolibrary.org/obo/DOID_974	upper respiratory tract disease		An upper respiratory tract disease which is characterized by inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat, painful or difficult swallowing, coughing, headache, myalgia, fever and chills.
http://purl.obolibrary.org/obo/DOID_10457	Legionnaires' disease	http://purl.obolibrary.org/obo/DOID_10458	legionellosis		A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough.
http://purl.obolibrary.org/obo/DOID_10458	legionellosis	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea.
http://purl.obolibrary.org/obo/DOID_10459	common cold	http://purl.obolibrary.org/obo/DOID_974	upper respiratory tract disease		An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus.
http://purl.obolibrary.org/obo/DOID_10460	nasopharyngitis	http://purl.obolibrary.org/obo/DOID_9561	nasopharyngeal disease		A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx.
http://purl.obolibrary.org/obo/DOID_10481	diaphragm disease	http://purl.obolibrary.org/obo/DOID_0080000	muscular disease		A muscular disease that is located_in the diaphragm.
http://purl.obolibrary.org/obo/DOID_10487	Hirschsprung's disease	http://purl.obolibrary.org/obo/DOID_11372	megacolon		A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.
http://purl.obolibrary.org/obo/DOID_10507	Dressler's syndrome	http://purl.obolibrary.org/obo/DOID_1787	pericarditis		A pericarditis characterized by inflammation, occurring after injury, located_in pericardium.
http://purl.obolibrary.org/obo/DOID_10516	malignant otitis externa	http://purl.obolibrary.org/obo/DOID_9463	otitis externa		An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes.
http://purl.obolibrary.org/obo/DOID_10518	beach ear	http://purl.obolibrary.org/obo/DOID_9463	otitis externa		An otitis externa which is a microbial infection that occurs suddenly, rapidly worsens, and becomes very painful and alarming. It is caused by swimming in polluted water, scratching the ear or inside the ear and object stuck in the ear. It is occasionally associated with middle ear infection or upper respiratory infections such as colds.
http://purl.obolibrary.org/obo/DOID_10519	chronic fungal otitis externa	http://purl.obolibrary.org/obo/DOID_1564	fungal infectious disease		A otomycosis which is persistent and long-lasting or recurrent.
http://purl.obolibrary.org/obo/DOID_10520	acute infection of pinna	http://purl.obolibrary.org/obo/DOID_9463	otitis externa		An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species.
http://purl.obolibrary.org/obo/DOID_10525	double pterygium	http://purl.obolibrary.org/obo/DOID_0002116	pterygium		A pterygium that is characterized by a fleshy outpouching of conjunctival growth that appears to have multiple heads or areas of bulk or origin and has_symptom multiple fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Double pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Double pterygiums progress from pinguecula.
http://purl.obolibrary.org/obo/DOID_10526	conjunctival pterygium	http://purl.obolibrary.org/obo/DOID_4251	conjunctival disease		A pterygium that is characterized by conjunctival degeneration, a fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Conjunctival pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Conjunctival pterygiums progress from pinguecula.
http://purl.obolibrary.org/obo/DOID_10533	viral pneumonia	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus.
http://purl.obolibrary.org/obo/DOID_10534	stomach cancer	http://purl.obolibrary.org/obo/DOID_76	stomach disease		A gastrointestinal system cancer that is located_in the stomach.
http://purl.obolibrary.org/obo/DOID_10538	gastric fundus cancer	http://purl.obolibrary.org/obo/DOID_10534	stomach cancer		A stomach cancer that is located_in the gastric fundus.
http://purl.obolibrary.org/obo/DOID_10548	cardia cancer	http://purl.obolibrary.org/obo/DOID_10534	stomach cancer		A cancer located_in the gastric cardia.
http://purl.obolibrary.org/obo/DOID_10550	acute eustachian salpingitis	http://purl.obolibrary.org/obo/DOID_2000	otosalpingitis		A otosalpingitis with a sudden onset and a short course.
http://purl.obolibrary.org/obo/DOID_10554	meningoencephalitis	http://purl.obolibrary.org/obo/DOID_331	central nervous system disease		A central nervous system disease that involves encephalitis which occurs along with meningitis.
http://purl.obolibrary.org/obo/DOID_10556	supine hypotensive syndrome	http://purl.obolibrary.org/obo/DOID_178	vascular disease		A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus.
http://purl.obolibrary.org/obo/DOID_1056	oculocerebrorenal syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney.
http://purl.obolibrary.org/obo/DOID_10567	late yaws	http://purl.obolibrary.org/obo/DOID_10371	yaws		A yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis.
http://purl.obolibrary.org/obo/DOID_10568	early yaws	http://purl.obolibrary.org/obo/DOID_10371	yaws		A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur.
http://purl.obolibrary.org/obo/DOID_10573	osteomalacia	http://purl.obolibrary.org/obo/DOID_0080005	bone remodeling disease		A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone.
http://purl.obolibrary.org/obo/DOID_10579	leukodystrophy	http://purl.obolibrary.org/obo/DOID_1443	cerebral degeneration		A cerebral degeneration characterized by dysfunction of the white matter of the brain.
http://purl.obolibrary.org/obo/DOID_10581	metachromatic leukodystrophy	http://purl.obolibrary.org/obo/DOID_1927	sphingolipidosis		A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.
http://purl.obolibrary.org/obo/DOID_10582	Refsum disease	http://purl.obolibrary.org/obo/DOID_3146	lipid metabolism disorder		A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues.
http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa	http://purl.obolibrary.org/obo/DOID_8466	retinal degeneration		A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.
http://purl.obolibrary.org/obo/DOID_10588	adrenoleukodystrophy	http://purl.obolibrary.org/obo/DOID_10579	leukodystrophy		A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.
http://purl.obolibrary.org/obo/DOID_1059	intellectual disability	http://purl.obolibrary.org/obo/DOID_0060038	specific developmental disorder		A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.
http://purl.obolibrary.org/obo/DOID_10590	mild pre-eclampsia	http://purl.obolibrary.org/obo/DOID_10591	pre-eclampsia		A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation.
http://purl.obolibrary.org/obo/DOID_10591	pre-eclampsia	http://purl.obolibrary.org/obo/DOID_10763	hypertension		A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.
http://purl.obolibrary.org/obo/DOID_10595	Charcot-Marie-Tooth disease	http://purl.obolibrary.org/obo/DOID_440	neuromuscular disease		A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.
http://purl.obolibrary.org/obo/DOID_106	pleural tuberculosis	http://purl.obolibrary.org/obo/DOID_1532	pleural disease		An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac.
http://purl.obolibrary.org/obo/DOID_1060	Hartnup disease	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum.
http://purl.obolibrary.org/obo/DOID_10600	chronic tic disorder	http://purl.obolibrary.org/obo/DOID_2769	tic disorder		A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year.
http://purl.obolibrary.org/obo/DOID_10604	lactose intolerance	http://purl.obolibrary.org/obo/DOID_2978	carbohydrate metabolic disorder		A carbohydrate metabolic disorder that is characterized by the impaired ability to digest lactose.
http://purl.obolibrary.org/obo/DOID_10605	short bowel syndrome	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		An intestinal disease that is characterized by a reduced ability to absorb nutrients due to the physical loss or the loss of function of a portion of the small and/or large intestine.
http://purl.obolibrary.org/obo/DOID_10606	blind loop syndrome	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption.
http://purl.obolibrary.org/obo/DOID_10608	celiac disease	http://purl.obolibrary.org/obo/DOID_0060031	autoimmune disease of gastrointestinal tract		An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.
http://purl.obolibrary.org/obo/DOID_10609	rickets	http://purl.obolibrary.org/obo/DOID_0080005	bone remodeling disease		A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone.
http://purl.obolibrary.org/obo/DOID_10612	allergic urticaria	http://purl.obolibrary.org/obo/DOID_1555	urticaria		An urticaria that is characterized by erythematous papules and plaques, has_symptom pruritis, and has_material_basis_in allergic reaction.
http://purl.obolibrary.org/obo/DOID_10615	acute gonococcal cervicitis	http://purl.obolibrary.org/obo/DOID_10616	acute cervicitis		An acute cervicitis that is caused by gonorrhea.
http://purl.obolibrary.org/obo/DOID_10616	acute cervicitis	http://purl.obolibrary.org/obo/DOID_2568	cervicitis		A cervicitis that is characterized by onset within the past 1 - 3 days.
http://purl.obolibrary.org/obo/DOID_10619	lymph node cancer	http://purl.obolibrary.org/obo/DOID_9942	lymph node disease		A lymphatic system cancer that is located_in the lymph node.
http://purl.obolibrary.org/obo/DOID_1062	Fanconi syndrome	http://purl.obolibrary.org/obo/DOID_447	renal tubular transport disease		A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.
http://purl.obolibrary.org/obo/DOID_10629	microphthalmia	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye disease where one or both eyeballs are abnormally small.
http://purl.obolibrary.org/obo/DOID_10632	Wolfram syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness.
http://purl.obolibrary.org/obo/DOID_1064	cystinosis	http://purl.obolibrary.org/obo/DOID_3211	lysosomal storage disease		A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17.
http://purl.obolibrary.org/obo/DOID_10646	schizotypal personality disorder	http://purl.obolibrary.org/obo/DOID_1510	personality disorder		A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs.
http://purl.obolibrary.org/obo/DOID_10652	Alzheimer's disease	http://purl.obolibrary.org/obo/DOID_680	tauopathy		A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.
http://purl.obolibrary.org/obo/DOID_10660	mediastinum neuroblastoma	http://purl.obolibrary.org/obo/DOID_4691	malignant mediastinal neurogenic neoplasm		A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells.
http://purl.obolibrary.org/obo/DOID_1067	open-angle glaucoma	http://purl.obolibrary.org/obo/DOID_1686	glaucoma		A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.
http://purl.obolibrary.org/obo/DOID_1068	juvenile glaucoma	http://purl.obolibrary.org/obo/DOID_1070	primary open angle glaucoma		A primary open angle glaucoma early age of onset, rapidly progressive with more severely elevated and fluctuating intraocular pressures.
http://purl.obolibrary.org/obo/DOID_10685	separation anxiety disorder	http://purl.obolibrary.org/obo/DOID_2030	anxiety disorder		An anxiety disorder that involves the feeling of excessive and inappropriate levels of anxiety over being separated from a person to whom the individual has a strong emotional attachment or place.
http://purl.obolibrary.org/obo/DOID_10686	lactocele	http://purl.obolibrary.org/obo/DOID_10350	breast cyst		A breast cyst that develops during or shortly after lactation and is characterized by retention of milk or a milky substance that is usually located_in the mammary glands.
http://purl.obolibrary.org/obo/DOID_10688	hypertrophy of breast	http://purl.obolibrary.org/obo/DOID_3463	breast disease		A breast disease that is characterized by the progressive, excessive enlargement of breast connective tissue.
http://purl.obolibrary.org/obo/DOID_10690	mastitis	http://purl.obolibrary.org/obo/DOID_3463	breast disease		A breast disease characterized by painful infection of the breast tissue.
http://purl.obolibrary.org/obo/DOID_10691	fat necrosis of breast	http://purl.obolibrary.org/obo/DOID_3463	breast disease		A breast disease that is characterized by the death of breast adipocytes, usually secondary to injury.
http://purl.obolibrary.org/obo/DOID_10699	paragonimiasis	http://purl.obolibrary.org/obo/DOID_936	brain disease		A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected.
http://purl.obolibrary.org/obo/DOID_1070	primary open angle glaucoma	http://purl.obolibrary.org/obo/DOID_1067	open-angle glaucoma		An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.
http://purl.obolibrary.org/obo/DOID_10718	giardiasis	http://purl.obolibrary.org/obo/DOID_2789	parasitic protozoa infectious disease		A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia duodenalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting.
http://purl.obolibrary.org/obo/DOID_1074	kidney failure	http://purl.obolibrary.org/obo/DOID_557	kidney disease		A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.
http://purl.obolibrary.org/obo/DOID_10744	broad ligament malignant neoplasm	http://purl.obolibrary.org/obo/DOID_11747	uterine adnexa cancer		A uterine adnexa cancer that is located_in the broad ligament.
http://purl.obolibrary.org/obo/DOID_10754	otitis media	http://purl.obolibrary.org/obo/DOID_5100	middle ear disease		A otitis which involves inflammation of the middle ear.
http://purl.obolibrary.org/obo/DOID_10755	petrositis	http://purl.obolibrary.org/obo/DOID_1019	osteomyelitis		An osteomyelitis that has_material_basis_in infection located_in petrous part of temporal bone.
http://purl.obolibrary.org/obo/DOID_10763	hypertension	http://purl.obolibrary.org/obo/DOID_0050828	artery disease		An artery disease characterized by chronic elevated blood pressure in the arteries.
http://purl.obolibrary.org/obo/DOID_10773	bubonic plague	http://purl.obolibrary.org/obo/DOID_9942	lymph node disease		A plague that results_in infection located_in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. The infection has_symptom enlarged, tender lymph nodes, has_symptom fever, has_symptom chills and has_symptom prostration.
http://purl.obolibrary.org/obo/DOID_10779	septic myocarditis	http://purl.obolibrary.org/obo/DOID_3951	acute myocarditis		An acute myocarditis that is characterized by an underlying infectious insult to the myocardium that induces acute inflammation.
http://purl.obolibrary.org/obo/DOID_10780	primary polycythemia	http://purl.obolibrary.org/obo/DOID_8432	polycythemia		A polycythemia that has_material_basis_in factors intrinsic to red cell precursors.
http://purl.obolibrary.org/obo/DOID_10784	Queensland tick typhus	http://purl.obolibrary.org/obo/DOID_11104	spotted fever		A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy.
http://purl.obolibrary.org/obo/DOID_10787	premature menopause	http://purl.obolibrary.org/obo/DOID_1414	ovarian dysfunction		An ovarian dysfunction that is the loss of normal ovarian function before age 40.
http://purl.obolibrary.org/obo/DOID_1079	setariasis	http://purl.obolibrary.org/obo/DOID_1080	filariasis		A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria.
http://purl.obolibrary.org/obo/DOID_10790	chronic frontal sinusitis	http://purl.obolibrary.org/obo/DOID_10791	frontal sinusitis		A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage.
http://purl.obolibrary.org/obo/DOID_10791	frontal sinusitis	http://purl.obolibrary.org/obo/DOID_0050127	sinusitis		A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead.
http://purl.obolibrary.org/obo/DOID_10792	chronic maxillary sinusitis	http://purl.obolibrary.org/obo/DOID_2051	maxillary sinusitis		A maxillary sinusitis which lasts for 12 weeks or more.
http://purl.obolibrary.org/obo/DOID_10793	chronic sphenoidal sinusitis	http://purl.obolibrary.org/obo/DOID_10794	sphenoid sinusitis		A sphenoid sinusitis which lasts for 12 weeks or more.
http://purl.obolibrary.org/obo/DOID_10794	sphenoid sinusitis	http://purl.obolibrary.org/obo/DOID_0050127	sinusitis		A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head.
http://purl.obolibrary.org/obo/DOID_1080	filariasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea.
http://purl.obolibrary.org/obo/DOID_1081	mansonelliasis	http://purl.obolibrary.org/obo/DOID_37	skin disease		A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies.
http://purl.obolibrary.org/obo/DOID_10811	nasal cavity cancer	http://purl.obolibrary.org/obo/DOID_2163	nasal cavity disease		A respiratory system cancer that is located_in the nasal cavity.
http://purl.obolibrary.org/obo/DOID_10816	duodenum adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		A duodenum cancer that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_1082	dirofilariasis	http://purl.obolibrary.org/obo/DOID_850	lung disease		A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions.
http://purl.obolibrary.org/obo/DOID_10824	malignant hypertension	http://purl.obolibrary.org/obo/DOID_10763	hypertension		A hypertension that is characterized by rapid onset of extremely high blood pressure.
http://purl.obolibrary.org/obo/DOID_10825	essential hypertension	http://purl.obolibrary.org/obo/DOID_10763	hypertension		A hypertension with no known cause. It is the most common type of hypertension.
http://purl.obolibrary.org/obo/DOID_10841	Eastern equine encephalitis	http://purl.obolibrary.org/obo/DOID_936	brain disease		A viral infectious disease that results in inflammation located in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus (Alphavirus eastern), which is transmitted by Aedes, transmitted by Coquillettidia, and transmitted by Culex species of mosquitoes. The infection has symptom sudden onset of headache, has symptom high fever, has symptom chills, has symptom vomiting, has symptom disorientation, has symptom seizures, and has symptom coma.
http://purl.obolibrary.org/obo/DOID_10842	Murray Valley encephalitis	http://purl.obolibrary.org/obo/DOID_936	brain disease		A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Murray Valley encephalitis virus (Orthoflavivirus murrayense), which is transmitted_by Culex annulirostris mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness.
http://purl.obolibrary.org/obo/DOID_10843	Western equine encephalitis	http://purl.obolibrary.org/obo/DOID_936	brain disease		A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus (Alphavirus western), which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness.
http://purl.obolibrary.org/obo/DOID_10844	Japanese encephalitis	http://purl.obolibrary.org/obo/DOID_936	brain disease		A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus (Orthoflavivirus japonicum), which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis.
http://purl.obolibrary.org/obo/DOID_10845	St. Louis encephalitis	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus (Orthoflavivirus louisense), which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis.
http://purl.obolibrary.org/obo/DOID_1085	Edwards syndrome	http://purl.obolibrary.org/obo/DOID_0060429	chromosomal duplication syndrome		A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18.
http://purl.obolibrary.org/obo/DOID_10852	middle ear cholesterol granuloma	http://purl.obolibrary.org/obo/DOID_10754	otitis media		A otitis media which is an expansile, inflammatory mass of granulation tissue in the middle ear. It is a foreign body reaction to cholesterol deposits that occur in obstructed fluid-filled air cells of the temporal bone. It is present with a conductive hearing loss and a blue eardrum.
http://purl.obolibrary.org/obo/DOID_10854	salivary gland disease	http://purl.obolibrary.org/obo/DOID_403	mouth disease		A mouth disease located_in the salivary gland.
http://purl.obolibrary.org/obo/DOID_10865	abducens nerve palsy	http://purl.obolibrary.org/obo/DOID_3817	cranial nerve palsy		A cranial nerve palsy characterized by lateral rectus muscle weakness resulting from damage to the abducens (sixth cranial) nerve.
http://purl.obolibrary.org/obo/DOID_10871	age related macular degeneration	http://purl.obolibrary.org/obo/DOID_2007	degeneration of macula and posterior pole		A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision.
http://purl.obolibrary.org/obo/DOID_1088	meningocele	http://purl.obolibrary.org/obo/DOID_0080016	spina bifida		A spina bifida that is characterized by herniation of the meninges between the vertebrae.
http://purl.obolibrary.org/obo/DOID_10881	hand, foot and mouth disease	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in infection located_in skin, has_material_basis_in Enterovirus A (Enterovirus alphacoxsackie), which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet.
http://purl.obolibrary.org/obo/DOID_10882	epidemic pleurodynia	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results in necrosis located in intercostal muscle and has_material_basis_in Human enterovirus B (Enterovirus betacoxsackie). The infection has symptom severe chest pain, has symptom fever, has symptom malaise, has symptom pleuritis, and has symptom headache.
http://purl.obolibrary.org/obo/DOID_10883	herpangina	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results in infection located in mouth, has_material_basis_in Human coxsackievirus A16, Human enterovirus 71, group B coxsackievirus, or echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars.
http://purl.obolibrary.org/obo/DOID_10887	lepromatous leprosy	http://purl.obolibrary.org/obo/DOID_1024	leprosy		A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas.
http://purl.obolibrary.org/obo/DOID_10892	hypospadias	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.
http://purl.obolibrary.org/obo/DOID_10907	microcephaly	http://purl.obolibrary.org/obo/DOID_2490	congenital nervous system abnormality		A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants.
http://purl.obolibrary.org/obo/DOID_10908	hydrocephalus	http://purl.obolibrary.org/obo/DOID_1443	cerebral degeneration		A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.
http://purl.obolibrary.org/obo/DOID_1091	tooth disease	http://purl.obolibrary.org/obo/DOID_403	mouth disease		A mouth disease located_in the teeth.
http://purl.obolibrary.org/obo/DOID_10914	amnestic disorder	http://purl.obolibrary.org/obo/DOID_1561	cognitive disorder		A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information.
http://purl.obolibrary.org/obo/DOID_10915	Wernicke-Korsakoff syndrome	http://purl.obolibrary.org/obo/DOID_0070313	thiamine deficiency disease		A nutritional deficiency disease that is characterized by ophthalmoplegia, ataxia, change in mental status and acute onset of severe memory impairment without any dysfunction in intellectual abilities, and has_material_basis_in thiamine deficiency.
http://purl.obolibrary.org/obo/DOID_10921	Siberian tick typhus	http://purl.obolibrary.org/obo/DOID_11104	spotted fever		A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash.
http://purl.obolibrary.org/obo/DOID_10923	sickle cell anemia	http://purl.obolibrary.org/obo/DOID_0081445	sickle cell disease		A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.
http://purl.obolibrary.org/obo/DOID_10930	borderline personality disorder	http://purl.obolibrary.org/obo/DOID_1510	personality disorder		A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods.
http://purl.obolibrary.org/obo/DOID_10931	dependent personality disorder	http://purl.obolibrary.org/obo/DOID_1510	personality disorder		A personality disorder that is characterized by a pervasive psychological dependence on other people.
http://purl.obolibrary.org/obo/DOID_10932	obsessive-compulsive personality disorder	http://purl.obolibrary.org/obo/DOID_1510	personality disorder		A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency.
http://purl.obolibrary.org/obo/DOID_10933	obsessive-compulsive disorder	http://purl.obolibrary.org/obo/DOID_2030	anxiety disorder		An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions).
http://purl.obolibrary.org/obo/DOID_10934	multiple personality disorder	http://purl.obolibrary.org/obo/DOID_10935	dissociative disorder		A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities.
http://purl.obolibrary.org/obo/DOID_10935	dissociative disorder	http://purl.obolibrary.org/obo/DOID_150	disease of mental health		A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated).
http://purl.obolibrary.org/obo/DOID_10936	schizoid personality disorder	http://purl.obolibrary.org/obo/DOID_1510	personality disorder		A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world.
http://purl.obolibrary.org/obo/DOID_10937	impulse control disorder	http://purl.obolibrary.org/obo/DOID_150	disease of mental health		A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others.
http://purl.obolibrary.org/obo/DOID_10938	paranoid personality disorder	http://purl.obolibrary.org/obo/DOID_1510	personality disorder		A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others.
http://purl.obolibrary.org/obo/DOID_10939	antisocial personality disorder	http://purl.obolibrary.org/obo/DOID_1510	personality disorder		A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood.
http://purl.obolibrary.org/obo/DOID_1094	attention deficit hyperactivity disorder	http://purl.obolibrary.org/obo/DOID_0060038	specific developmental disorder		A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.
http://purl.obolibrary.org/obo/DOID_10944	tongue disease	http://purl.obolibrary.org/obo/DOID_403	mouth disease		A mouth disease located_in the tongue.
http://purl.obolibrary.org/obo/DOID_10952	nephritis	http://purl.obolibrary.org/obo/DOID_557	kidney disease		A kidney disease that is characterized by an inflammation of the kidneys.
http://purl.obolibrary.org/obo/DOID_10955	strongyloidiasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis.
http://purl.obolibrary.org/obo/DOID_10965	spastic diplegia	http://purl.obolibrary.org/obo/DOID_0050669	spastic cerebral palsy		A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk.
http://purl.obolibrary.org/obo/DOID_10967	spastic hemiplegia	http://purl.obolibrary.org/obo/DOID_0050669	spastic cerebral palsy		A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side,the arm and leg may not develop normally.
http://purl.obolibrary.org/obo/DOID_10968	spastic monoplegia	http://purl.obolibrary.org/obo/DOID_0050669	spastic cerebral palsy		A spastic cerebral palsy that affects only one limb.
http://purl.obolibrary.org/obo/DOID_10969	hemiplegia	http://purl.obolibrary.org/obo/DOID_331	central nervous system disease		A central nervous system disease that is characterized by the complete paralysis of half of the body.
http://purl.obolibrary.org/obo/DOID_10970	spastic quadriplegic cerebral palsy	http://purl.obolibrary.org/obo/DOID_0050669	spastic cerebral palsy		A spastic cerebral palsy that is characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth, affecting all four limbs, and with difficulty with walking and talking.
http://purl.obolibrary.org/obo/DOID_10974	oophoritis	http://purl.obolibrary.org/obo/DOID_1100	ovarian disease		An ovarian disease that is characterized by inflammation of the ovary.
http://purl.obolibrary.org/obo/DOID_1098	hemolytic disease of the fetus	http://purl.obolibrary.org/obo/DOID_11252	microcytic anemia		A microcytic anemia that is characterized by Rho(D) incompatibility, which may develop when a woman with Rh-negative blood is impregnated by an individual with Rh-positive blood and conceives a fetus with Rh-positive blood, sometimes resulting in hemolysis.
http://purl.obolibrary.org/obo/DOID_10983	Alport syndrome	http://purl.obolibrary.org/obo/DOID_0051079	monogenic chronic kidney disease		A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss.
http://purl.obolibrary.org/obo/DOID_10986	discitis	http://purl.obolibrary.org/obo/DOID_1222	cartilage disease		A cartilage disease that is characterized by an infection of the intervertebral disc space.
http://purl.obolibrary.org/obo/DOID_1099	alpha thalassemia	http://purl.obolibrary.org/obo/DOID_10241	thalassemia		A thalassemia involving the genes HBA1and HBA2 hemoglobin genes.
http://purl.obolibrary.org/obo/DOID_10992	acute hemorrhagic leukoencephalitis	http://purl.obolibrary.org/obo/DOID_639	acute disseminated encephalomyelitis		A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema.
http://purl.obolibrary.org/obo/DOID_10993	postinfectious encephalitis	http://purl.obolibrary.org/obo/DOID_9588	encephalitis		An encephalitis that is characterized by the immune system mistakenly attacking healthy cells in the brain instead of attacking only the cells causing the infection, often occurring two to three weeks after the initial infection.
http://purl.obolibrary.org/obo/DOID_10997	immature cataract	http://purl.obolibrary.org/obo/DOID_9669	senile cataract		A senile cataract that is characterized by variable opacification of the lens of the eye with some clear lens fibers remaining.
http://purl.obolibrary.org/obo/DOID_110	lens disease	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye disease that affects the lens of the eye, which is the transparent disc that focuses light to the photosensors in the back of the eye.
http://purl.obolibrary.org/obo/DOID_1100	ovarian disease	http://purl.obolibrary.org/obo/DOID_229	female reproductive system disease		A female reproductive system disease that is located_in the ovary.
http://purl.obolibrary.org/obo/DOID_11037	dissociative amnesia	http://purl.obolibrary.org/obo/DOID_10935	dissociative disorder		A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress.
http://purl.obolibrary.org/obo/DOID_11038	depersonalization disorder	http://purl.obolibrary.org/obo/DOID_10935	dissociative disorder		A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization.
http://purl.obolibrary.org/obo/DOID_11042	Felty's syndrome	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		An autoimmune disease that results_in rheumatoid arthritis, splenomegaly and neutropenia.
http://purl.obolibrary.org/obo/DOID_11049	meconium aspiration syndrome	http://purl.obolibrary.org/obo/DOID_850	lung disease		A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery.
http://purl.obolibrary.org/obo/DOID_11054	urinary bladder cancer	http://purl.obolibrary.org/obo/DOID_3996	urinary system cancer		An urinary system cancer that results_in malignant growth located_in the urinary bladder.
http://purl.obolibrary.org/obo/DOID_11055	pasteurellosis	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia.
http://purl.obolibrary.org/obo/DOID_11060	placenta praevia	http://purl.obolibrary.org/obo/DOID_780	placenta disease		A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix.
http://purl.obolibrary.org/obo/DOID_1107	esophageal carcinoma	http://purl.obolibrary.org/obo/DOID_5041	esophageal cancer		A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
http://purl.obolibrary.org/obo/DOID_11076	Brucella suis brucellosis	http://purl.obolibrary.org/obo/DOID_11077	brucellosis		A brucellosis that involves an infection caused by Brucella suis in swine and humans. The disease has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom diaphoresis, has_symptom arthralgia, has_symptom myalgia, has_symptom headache, has_symptom anorexia, and has_symptom fatigue.
http://purl.obolibrary.org/obo/DOID_11077	brucellosis	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue.
http://purl.obolibrary.org/obo/DOID_11079	leech infestation	http://purl.obolibrary.org/obo/DOID_4110	parasitic ectoparasitic infectious disease		A parasitic ectoparasitic infectious disease that involves parasitic infestation by members of the subclass Hirudinea. The leeches remain attached to their hosts and feed on blood until they become full, at which point they fall off to digest. While feeding, they release an anesthetic and use a combination of mucus and suction to stay attached and secrete an anti-clotting enzyme, hirudin, into the host's blood stream.
http://purl.obolibrary.org/obo/DOID_11080	myiasis	http://purl.obolibrary.org/obo/DOID_4110	parasitic ectoparasitic infectious disease		A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue.
http://purl.obolibrary.org/obo/DOID_11088	asphyxia neonatorum	http://purl.obolibrary.org/obo/DOID_1579	respiratory system disease		A respiratory system disease that is characterized by deprivation of oxygen to a newborn infant that lasts long enough during the birth process to cause physical harm, usually to the brain.
http://purl.obolibrary.org/obo/DOID_11100	Q fever	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia.
http://purl.obolibrary.org/obo/DOID_11101	trench fever	http://purl.obolibrary.org/obo/DOID_11102	bartonellosis		A primary bacterial infectious disease that results in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted by body lice (Pediculus humanus corporis). The infection has symptom relapsing fever, has symptom headache, has symptom shin pain, and has symptom soreness of the muscles of the legs and back.
http://purl.obolibrary.org/obo/DOID_11102	bartonellosis	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella.
http://purl.obolibrary.org/obo/DOID_11103	rickettsialpox	http://purl.obolibrary.org/obo/DOID_11104	spotted fever		A spotted fever that has_material_basis_in Rickettsia akari, which is transmitted_by house mouse mite (Liponyssoides sanguineus) found on mice and other rodents. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, and has_symptom papulovesicular rash.
http://purl.obolibrary.org/obo/DOID_11104	spotted fever	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that results in infection, located in endothelial cell of artery or located in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted by ticks and mites. The infection has symptom fever, has symptom headache, has symptom fatigue, has symptom muscle aches, and has symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite.
http://purl.obolibrary.org/obo/DOID_11105	fundus albipunctatus	http://purl.obolibrary.org/obo/DOID_8501	fundus dystrophy		A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement.
http://purl.obolibrary.org/obo/DOID_11111	hydronephrosis	http://purl.obolibrary.org/obo/DOID_18	urinary system disease		An urinary system disease that is characterized by swelling of one or both kidneys due to incomplete voiding of urine.
http://purl.obolibrary.org/obo/DOID_11119	Gilles de la Tourette syndrome	http://purl.obolibrary.org/obo/DOID_2769	tic disorder		A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year.
http://purl.obolibrary.org/obo/DOID_11121	pulpitis	http://purl.obolibrary.org/obo/DOID_5330	dental pulp disease		A dental pulp disease characterized by inflammation.
http://purl.obolibrary.org/obo/DOID_11123	IgA vasculitis	http://purl.obolibrary.org/obo/DOID_9809	hypersensitivity vasculitis		A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection.
http://purl.obolibrary.org/obo/DOID_1114	esophagus sarcoma	http://purl.obolibrary.org/obo/DOID_5041	esophageal cancer		An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus.
http://purl.obolibrary.org/obo/DOID_11148	hypersecretion glaucoma	http://purl.obolibrary.org/obo/DOID_1686	glaucoma		A glaucoma characterized by high aqueous fluid production and inflow relative to aqueous fluid outflow leading to inappropriately elevated intraocular pressure, which may lead to optic nerve damage and visual field loss. Hypersecretion glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Hypersecretion glaucoma is caused by high aqueous fluid inflow relative to outflow.
http://purl.obolibrary.org/obo/DOID_11149	aqueous misdirection	http://purl.obolibrary.org/obo/DOID_1686	glaucoma		A glaucoma characterized by shallowing of the central and peripheral anterior chamber from posterior pressure such that the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Aqueous misdirection has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Aqueous misdirection is caused by an abnormal relationsihp between the ciliary body, lens, and anterior vitreous such that aqueous flow is diverted into the posterior segment, leading to increased posterior pressure, which further closes the angle. Aqueous misdirection may occur in association with glaucoma surgery, trauma, endophthalmitis, and retinopathy of prematurity.
http://purl.obolibrary.org/obo/DOID_1115	sarcoma	http://purl.obolibrary.org/obo/DOID_0050687	cell type cancer		A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm.
http://purl.obolibrary.org/obo/DOID_11153	miliaria rubra	http://purl.obolibrary.org/obo/DOID_1382	miliaria		A miliaria that is characterized by erythematous papules resulting in leakage of sweat into the deeper, subcorneal layers of the epidermis provoking a local inflammatory reaction.
http://purl.obolibrary.org/obo/DOID_11155	hypohidrosis	http://purl.obolibrary.org/obo/DOID_1383	sweat gland disease		A sweat gland disease that is characterized by reduced ability to sweat, has_symptom hyperthermia and dry skin of affected areas, and has_material_basis_in trauma to the sweat glands.
http://purl.obolibrary.org/obo/DOID_11156	anhidrosis	http://purl.obolibrary.org/obo/DOID_11155	hypohidrosis		A hypohidrosis that is characterized by the inability to sweat and has_symptom hyperthermia and dry skin.
http://purl.obolibrary.org/obo/DOID_1116	pertussis	http://purl.obolibrary.org/obo/DOID_0050339	commensal bacterial infectious disease		A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop).
http://purl.obolibrary.org/obo/DOID_11161	neonatal respiratory failure	http://purl.obolibrary.org/obo/DOID_11162	respiratory failure		A respiratory failure that is characterized by inadequate gas exchange by the respiratory system in neonates.
http://purl.obolibrary.org/obo/DOID_11162	respiratory failure	http://purl.obolibrary.org/obo/DOID_850	lung disease		A lung disease characterized by inadequate gas exchange by the respiratory system.
http://purl.obolibrary.org/obo/DOID_11165	common wart	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection is characterized by a raised wart with roughened surface, most common on hands, but can grow anywhere on the body.
http://purl.obolibrary.org/obo/DOID_11166	Human papillomavirus infectious disease	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact.
http://purl.obolibrary.org/obo/DOID_11168	anogenital venereal wart	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.
http://purl.obolibrary.org/obo/DOID_11180	non-suppurative otitis media	http://purl.obolibrary.org/obo/DOID_10754	otitis media		A otitis media which involves transudation of fluid in the middle ear without pus formation.
http://purl.obolibrary.org/obo/DOID_11181	serous glue ear	http://purl.obolibrary.org/obo/DOID_11180	non-suppurative otitis media		A non-suppurative otitis media that is characterized by effusion with very thick and glue-like middle ear fluid which may cause conductive hearing impairment.
http://purl.obolibrary.org/obo/DOID_11186	allescheriosis	http://purl.obolibrary.org/obo/DOID_0050292	primary systemic mycosis		A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Pseudallescheria boydii, which results_in_formation_of abscesses.
http://purl.obolibrary.org/obo/DOID_11190	pseudomembranous conjunctivitis	http://purl.obolibrary.org/obo/DOID_11184	acute conjunctivitis		A acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. Infectious causes of pseudomembranes include Corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex virus, adenovirus, Chlamydia and gonococci. Other causes include chemical (alkali) irritants, erythema multiforme, and ocular pemphigoid.
http://purl.obolibrary.org/obo/DOID_11193	syndactyly	http://purl.obolibrary.org/obo/DOID_11971	synostosis		A synostosis that results_in the fusion of two or more digits.
http://purl.obolibrary.org/obo/DOID_11195	acute laryngopharyngitis	http://purl.obolibrary.org/obo/DOID_974	upper respiratory tract disease		An upper respiratory tract disease which involves inflammation of both larynx and pharynx.
http://purl.obolibrary.org/obo/DOID_11197	serous conjunctivitis except viral	http://purl.obolibrary.org/obo/DOID_11184	acute conjunctivitis		A viral acute conjunctivitis that is characterized by conjunctival inflammation and serous discharge.
http://purl.obolibrary.org/obo/DOID_11198	DiGeorge syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.
http://purl.obolibrary.org/obo/DOID_11199	hypoparathyroidism	http://purl.obolibrary.org/obo/DOID_11201	parathyroid gland disease		A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood.
http://purl.obolibrary.org/obo/DOID_11200	T cell deficiency	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that is characterized by decreased numbers of circulating or functioning T cells.
http://purl.obolibrary.org/obo/DOID_11201	parathyroid gland disease	http://purl.obolibrary.org/obo/DOID_28	endocrine system disease		An endocrine system disease that is located_in the parathyroid gland.
http://purl.obolibrary.org/obo/DOID_11202	primary hyperparathyroidism	http://purl.obolibrary.org/obo/DOID_13543	hyperparathyroidism		A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood.
http://purl.obolibrary.org/obo/DOID_11204	allergic conjunctivitis	http://purl.obolibrary.org/obo/DOID_2475	chronic conjunctivitis		A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant.
http://purl.obolibrary.org/obo/DOID_11206	opioid abuse	http://purl.obolibrary.org/obo/DOID_302	substance abuse		A substance abuse that involves the recurring use of opioid drugs despite negative consequences.
http://purl.obolibrary.org/obo/DOID_11211	buphthalmos	http://purl.obolibrary.org/obo/DOID_11212	hydrophthalmos		A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss.
http://purl.obolibrary.org/obo/DOID_11212	hydrophthalmos	http://purl.obolibrary.org/obo/DOID_0050593	primary congenital glaucoma		A primary congenital glaucoma characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure and increased corneal diameter and has_symptom early vision loss, increased corneal diameter, and increased corneal thickness. Hydrophthalmus is caused by congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss.
http://purl.obolibrary.org/obo/DOID_11213	acute contagious conjunctivitis	http://purl.obolibrary.org/obo/DOID_11184	acute conjunctivitis		A bacterial acute conjunctivitis that is characterized by highly contagious conjunctival hypermia and mucopurulent discharge and has_material_basis_in Hemophilius Aegypticus.
http://purl.obolibrary.org/obo/DOID_11219	conjunctival folliculosis	http://purl.obolibrary.org/obo/DOID_11184	acute conjunctivitis		An acute conjunctivitis characterized by conjunctival folliculosis and follicular hypertrophy of the palpebral conjunctivae.
http://purl.obolibrary.org/obo/DOID_11227	acute hemorrhagic conjunctivitis	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 (Enterovirus coxsackiepol) or has_material_basis_in Human enterovirus 70 (Enterovirus deconjuncti), which are transmitted by contaminated fomites or transmitted by contact with contaminated hands. The infection has symptom vascular dilation, has symptom eyelid edema, has symptom photophobia, has symptom redness of the eyes, has symptom watering of the eye, has symptom conjunctival congestion, and has symptom superficial punctate epithelial keratitis.
http://purl.obolibrary.org/obo/DOID_11231	orbital periostitis	http://purl.obolibrary.org/obo/DOID_11230	acute orbital inflammation		An acute orbital inflammation that is characterized by inflammation of the periosteum of the orbit.
http://purl.obolibrary.org/obo/DOID_11232	orbital osteomyelitis	http://purl.obolibrary.org/obo/DOID_11230	acute orbital inflammation		An acute orbital inflammation that is characterized by inflammation of the medullary cavity of orbital bone that eventually spreads to the periosteum.
http://purl.obolibrary.org/obo/DOID_11233	orbital tenonitis	http://purl.obolibrary.org/obo/DOID_11230	acute orbital inflammation		An acute orbital inflammation that is characterized by inflammation of the capsule of Tenon.
http://purl.obolibrary.org/obo/DOID_11234	orbital cellulitis	http://purl.obolibrary.org/obo/DOID_11230	acute orbital inflammation		An acute orbital inflammation that is characterized by painful orbital mass and has_symptom eyelid edema, has_symptom erythema, has_symptom chemiosis, has_symptom proptosis, has_symptom blurred vision, has_symptom headache, has_symptom fever and has_symptom double vision.
http://purl.obolibrary.org/obo/DOID_11235	adhesive otitis media	http://purl.obolibrary.org/obo/DOID_2742	auditory system disease		An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear.
http://purl.obolibrary.org/obo/DOID_11239	appendix cancer	http://purl.obolibrary.org/obo/DOID_60000	appendix disease		A intestinal cancer that is located_in the appendix.
http://purl.obolibrary.org/obo/DOID_11243	anemia of prematurity	http://purl.obolibrary.org/obo/DOID_11244	neonatal anemia		A neonatal anemia that is characterized by anemia experienced by preterm infants in the early postnatal weeks.
http://purl.obolibrary.org/obo/DOID_11244	neonatal anemia	http://purl.obolibrary.org/obo/DOID_2355	anemia		An anemia that is characterized by a lower red blood cell count than normal in neonates.
http://purl.obolibrary.org/obo/DOID_11249	vitamin K deficiency bleeding	http://purl.obolibrary.org/obo/DOID_5113	nutritional deficiency disease		A nutritional deficiency disease that is characterized by easy bleeding due to an inability to form blood clots caused by vitamin K deficiency, occurs most commonly in newborns, and has_material_basis_in deficiency of vitamin K secondary to liver prematurity, lack of vitamin K in a breastmilk diet, largely sterile gut, malabsorption, diarrhea, chronic illness, menorrhagia, chronic kidney disease, and some medications.
http://purl.obolibrary.org/obo/DOID_11252	microcytic anemia	http://purl.obolibrary.org/obo/DOID_2355	anemia		An anemia that is characterized by a low normal mean corpuscular volume (MCV) (less than 80 fL) and is defined by the presence of small, often hypochromic, red blood cells in a peripheral blood smear.
http://purl.obolibrary.org/obo/DOID_11254	Brill-Zinsser disease	http://purl.obolibrary.org/obo/DOID_0050480	epidemic typhus		An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses.
http://purl.obolibrary.org/obo/DOID_11256	typhus	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that refers to a group of diseases, located in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted by lice, transmitted by fleas, and transmitted by mites.
http://purl.obolibrary.org/obo/DOID_11257	social phobia	http://purl.obolibrary.org/obo/DOID_591	phobic disorder		A phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people.
http://purl.obolibrary.org/obo/DOID_11258	cat-scratch disease	http://purl.obolibrary.org/obo/DOID_9942	lymph node disease		A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain.
http://purl.obolibrary.org/obo/DOID_11260	rabies	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results in inflammation located in brain or located in spinal cord, has_material_basis_in viruses in the genus Lyssavirus, which are transmitted by bite of an infected animal, or transmitted by contact of mucous membranes with saliva of an infected animal. The infection has symptom fever, has symptom headache, has symptom prickling or itching sensation at the site of bite, has symptom anxiety, has symptom confusion, has symptom agitation, has symptom delirium, has symptom difficulty swallowing, has symptom hydrophobia, and has symptom paralysis. Most human cases of rabies are caused by the Rabies virus (Lyssavirus rabies) transmitted from dogs.
http://purl.obolibrary.org/obo/DOID_11262	ornithosis	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia.
http://purl.obolibrary.org/obo/DOID_11263	chlamydia	http://purl.obolibrary.org/obo/DOID_0050339	commensal bacterial infectious disease		A commensal bacterial infectious disease that is caused by Chlamydia trachomatis.
http://purl.obolibrary.org/obo/DOID_11265	trachoma	http://purl.obolibrary.org/obo/DOID_5614	eye disease		A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea.
http://purl.obolibrary.org/obo/DOID_11266	Hantavirus hemorrhagic fever with renal syndrome	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Orthohantavirus dobravaense, Orthohantavirus hantanense, Orthohantavirus puumalaense, or Orthohantavirus seoulense, which are carried and transmitted by rodents. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure.
http://purl.obolibrary.org/obo/DOID_11285	tick paralysis	http://purl.obolibrary.org/obo/DOID_4109	tick infestation		A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage.
http://purl.obolibrary.org/obo/DOID_11289	ventilation pneumonitis	http://purl.obolibrary.org/obo/DOID_841	extrinsic allergic alveolitis		An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease.
http://purl.obolibrary.org/obo/DOID_11294	arteriovenous malformation	http://purl.obolibrary.org/obo/DOID_255	hemangioma		A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system.
http://purl.obolibrary.org/obo/DOID_11302	cercarial dermatitis	http://purl.obolibrary.org/obo/DOID_37	skin disease		A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has symptom skin reddening, has symptom skin itching, in the water or immediately after emerging and has symptom itchy, raised papules, occur within hours of infection.
http://purl.obolibrary.org/obo/DOID_11315	African histoplasmosis	http://purl.obolibrary.org/obo/DOID_1731	histoplasmosis		A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted by airborne spores and results in formation of nodules, results in formation of ulcers and results in formation of osteolytic bone lesions.
http://purl.obolibrary.org/obo/DOID_11320	Kyasanur forest disease	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus (Orthoflavivirus kyasanurense), which is transmitted by Haemaphysalis spinigera tick bite. The infection has symptom fever, has symptom headache, has symptom stiffness of the neck, has symptom severe muscle pain, has symptom cough, has symptom dehydration, and has symptom bleeding problems.
http://purl.obolibrary.org/obo/DOID_11328	schizophreniform disorder	http://purl.obolibrary.org/obo/DOID_2468	psychotic disorder		A psychotic disorder that involves schizophrenia symptoms over time period of one month.
http://purl.obolibrary.org/obo/DOID_11329	ainhum	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later.
http://purl.obolibrary.org/obo/DOID_11335	sarcoidosis	http://purl.obolibrary.org/obo/DOID_2916	hypersensitivity reaction type IV disease		A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.
http://purl.obolibrary.org/obo/DOID_11336	rhinoscleroma	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis.
http://purl.obolibrary.org/obo/DOID_11337	Lemierre's syndrome	http://purl.obolibrary.org/obo/DOID_0050339	commensal bacterial infectious disease		A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling.
http://purl.obolibrary.org/obo/DOID_11338	tetanus	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that results in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli.
http://purl.obolibrary.org/obo/DOID_11339	pneumocystosis	http://purl.obolibrary.org/obo/DOID_850	lung disease		An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever.
http://purl.obolibrary.org/obo/DOID_11343	scleral disease	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye disease that affects the sclera, which is the white fibrous outer layer of the eyeball.
http://purl.obolibrary.org/obo/DOID_11353	bladder diverticulum	http://purl.obolibrary.org/obo/DOID_365	bladder disease		A bladder disease characterized by protrusion of the bladder urothelium and mucosa via muscle fibers of the bladder wall which results in one or more thin-walled structures connected to the bladder lumen.
http://purl.obolibrary.org/obo/DOID_11360	phlebotomus fever	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results in infection, has_material_basis_in Sandfly fever Naples virus (Phlebovirus napoliense) or Sandfly fever sicilian virus (Phlebovirus siciliaense), which are transmitted by Phlebotomus papatasi sandfly. The infection has symptom fever, has symptom severe frontal headaches, has symptom muscle ache, has symptom joint aches, has symptom flushing of the face, and has symptom tachycardia.
http://purl.obolibrary.org/obo/DOID_11372	megacolon	http://purl.obolibrary.org/obo/DOID_5353	colonic disease		A colonic disease that is characterized by an abnormal dilation of the colon.
http://purl.obolibrary.org/obo/DOID_11379	gnathomiasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis.
http://purl.obolibrary.org/obo/DOID_11385	expressive language disorder	http://purl.obolibrary.org/obo/DOID_93	language disorder		A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits.
http://purl.obolibrary.org/obo/DOID_11387	epidural abscess	http://purl.obolibrary.org/obo/DOID_331	central nervous system disease		A central nervous system disease that is characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine and is caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges).
http://purl.obolibrary.org/obo/DOID_11389	subdural empyema	http://purl.obolibrary.org/obo/DOID_331	central nervous system disease		A central nervous system disease that is characterized by the collection or gathering of pus within the subdural space.
http://purl.obolibrary.org/obo/DOID_11394	adult respiratory distress syndrome	http://purl.obolibrary.org/obo/DOID_11162	respiratory failure		A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.
http://purl.obolibrary.org/obo/DOID_11396	pulmonary edema	http://purl.obolibrary.org/obo/DOID_11162	respiratory failure		A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure.
http://purl.obolibrary.org/obo/DOID_114	heart disease	http://purl.obolibrary.org/obo/DOID_1287	cardiovascular system disease		A cardiovascular system disease that involves the heart.
http://purl.obolibrary.org/obo/DOID_11405	diphtheria	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys.
http://purl.obolibrary.org/obo/DOID_11424	fallopian tube endometriosis	http://purl.obolibrary.org/obo/DOID_289	endometriosis		A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the fallopian tube.
http://purl.obolibrary.org/obo/DOID_11427	endosalpingiosis	http://purl.obolibrary.org/obo/DOID_289	endometriosis		A female reproductive system disease characterized by the growth of fallopian tube-like epithelium outside the fallopian tube.
http://purl.obolibrary.org/obo/DOID_11428	endometriosis of intestine	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the intestine.
http://purl.obolibrary.org/obo/DOID_11429	endometriosis of pelvic peritoneum	http://purl.obolibrary.org/obo/DOID_289	endometriosis		A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the pelvic peritoneum.
http://purl.obolibrary.org/obo/DOID_11430	endometriosis in scar of skin	http://purl.obolibrary.org/obo/DOID_289	endometriosis		A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the scar of the skin.
http://purl.obolibrary.org/obo/DOID_11431	endometriosis of rectovaginal septum and vagina	http://purl.obolibrary.org/obo/DOID_289	endometriosis		A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the rectovaginal septum and vagina.
http://purl.obolibrary.org/obo/DOID_11432	endometriosis of ovary	http://purl.obolibrary.org/obo/DOID_289	endometriosis		A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the ovary.
http://purl.obolibrary.org/obo/DOID_11450	allergic cutaneous vasculitis	http://purl.obolibrary.org/obo/DOID_9809	hypersensitivity vasculitis		A hypersensitivity vasculitis that results_in inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the skin.
http://purl.obolibrary.org/obo/DOID_11457	brain compression	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease that is characterized by pressure on the intracranial tissues by an effusion of blood or cerebrospinal fluid, an abscess, a neoplasm, a depressed fracture of the skull, or edema of the brain.
http://purl.obolibrary.org/obo/DOID_11465	autonomic nervous system disease	http://purl.obolibrary.org/obo/DOID_574	peripheral nervous system disease		A peripheral nervous system disease that is located_in the autonomic nervous system.
http://purl.obolibrary.org/obo/DOID_11476	osteoporosis	http://purl.obolibrary.org/obo/DOID_0080011	bone resorption disease		A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.
http://purl.obolibrary.org/obo/DOID_1148	polydactyly	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot.
http://purl.obolibrary.org/obo/DOID_11482	hemopericardium	http://purl.obolibrary.org/obo/DOID_118	pericardial effusion		A pericardial effusion that results from blood in the pericardial sac.
http://purl.obolibrary.org/obo/DOID_11486	Horner's syndrome	http://purl.obolibrary.org/obo/DOID_11504	autonomic neuropathy		An autonomic neuropathy that is characterized by the classic triad of unilateral ptosis, unilateral miosis with anisocoria, and ipsilateral facial anhidrosis, resulting from unilateral paralysis of the cervical sympathetics.
http://purl.obolibrary.org/obo/DOID_11491	acquired night blindness	http://purl.obolibrary.org/obo/DOID_5113	nutritional deficiency disease		A nutritional deficiency disease that is characterized by vitamin A deficiency causing poor adaptation of the eyes to low levels of light, and has_material_basis_in lack of vitamin A such that rhodopsin, a light sensitive retinal pigment, cannot be regenerated.
http://purl.obolibrary.org/obo/DOID_115	cardiac tamponade	http://purl.obolibrary.org/obo/DOID_118	pericardial effusion		A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch.
http://purl.obolibrary.org/obo/DOID_11506	suppurative otitis media	http://purl.obolibrary.org/obo/DOID_10754	otitis media		A otitis media which involves inflammation of the middle ear with infected effusion containing pus.
http://purl.obolibrary.org/obo/DOID_11507	rumination disorder	http://purl.obolibrary.org/obo/DOID_8670	eating disorder		An eating disorder that is characterized by effortless regurgitation of most meals following consumption.
http://purl.obolibrary.org/obo/DOID_11512	Budd-Chiari syndrome	http://purl.obolibrary.org/obo/DOID_272	hepatic vascular disease		A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion.
http://purl.obolibrary.org/obo/DOID_11516	hypertensive heart disease	http://purl.obolibrary.org/obo/DOID_114	heart disease		A heart disease that is caused by high blood pressure.
http://purl.obolibrary.org/obo/DOID_11549	Adie syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon.
http://purl.obolibrary.org/obo/DOID_11554	Chandler syndrome	http://purl.obolibrary.org/obo/DOID_2566	corneal dystrophy		A corneal dystrophy that is characterized by corneal edema, iris atrophy, and secondary angle-closure glaucoma caused by an inflammatory or infectious insult that causes the endothelium to fail to pump aqueous humor from the cornea, leading to fluid accumulation, microcystic edema, and angle-closure glaucoma.
http://purl.obolibrary.org/obo/DOID_11555	Fuchs' endothelial dystrophy	http://purl.obolibrary.org/obo/DOID_0060443	corneal endothelial dystrophy		A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision.
http://purl.obolibrary.org/obo/DOID_11557	acute serous otitis media	http://purl.obolibrary.org/obo/DOID_3697	acute transudative otitis media		A acute transudative otitis media with thin, watery and sterile effusion.
http://purl.obolibrary.org/obo/DOID_11558	acute allergic serous otitis media	http://purl.obolibrary.org/obo/DOID_1205	allergic disease		A acute serous otitis media caused by an allergen.
http://purl.obolibrary.org/obo/DOID_1156	chondrocalcinosis	http://purl.obolibrary.org/obo/DOID_848	arthritis		An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint.
http://purl.obolibrary.org/obo/DOID_11563	retinal vasculitis	http://purl.obolibrary.org/obo/DOID_865	vasculitis		A vasculitis that is characterized by inflammation of the vascular branches of the retinal artery and has_symptom painless decrease of visual acuity, visual floaters, dark spot in vision, decreased ability to distinguish colors, and distortion of images such as linear images.
http://purl.obolibrary.org/obo/DOID_11569	neurocirculatory asthenia	http://purl.obolibrary.org/obo/DOID_4737	somatoform disorder		A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormalities.
http://purl.obolibrary.org/obo/DOID_11572	Listeria meningitis	http://purl.obolibrary.org/obo/DOID_9470	bacterial meningitis		A bacterial meningitis that has_material_basis_in Listeria monocytogenes infection.
http://purl.obolibrary.org/obo/DOID_11573	listeriosis	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth.
http://purl.obolibrary.org/obo/DOID_11574	streptococcal meningitis	http://purl.obolibrary.org/obo/DOID_9470	bacterial meningitis		A bacterial meningitis that has_material_basis_in streptococcal bacteria.
http://purl.obolibrary.org/obo/DOID_11577	Cauda equina syndrome	http://purl.obolibrary.org/obo/DOID_574	peripheral nervous system disease		A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord.
http://purl.obolibrary.org/obo/DOID_11589	familial dysautonomia	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A hereditary sensory and autonomic neuropathy characterized by progressive degeneration of sensory and autonomic neurons with congenital or neonatal onset resulting in impaired pain and temperature perception and profound dysautonomia that has_material_basis_in homozygous or compound heterozygous mutation in the ELP1 gene on chromosome 9q31. Common signs and symptoms include gastrointestinal dysfunction with vomiting crises, recurrent aspiration pneumonia, altered sensitivity to pain and temperature, extreme blood pressure variability with postural hypotension, hypotonia, decreased or absent deep tendon reflexes, decreased taste and absence of fungiform papillae of the tongue, alacrima, and early or sudden death.
http://purl.obolibrary.org/obo/DOID_11599	Frey syndrome	http://purl.obolibrary.org/obo/DOID_11465	autonomic nervous system disease		An autonomic nervous system disease that is characterized by facial sweating and flushing with gustatory stimulation, resulting from a disruption of the auriculotemporal nerve pathways.
http://purl.obolibrary.org/obo/DOID_11603	infant gynecomastia	http://purl.obolibrary.org/obo/DOID_3463	breast disease		A breast disease that is characterized by benign proliferation of glandular breast tissue and occurs in children less than one year of age.
http://purl.obolibrary.org/obo/DOID_11608	fungal meningitis	http://purl.obolibrary.org/obo/DOID_9471	meningitis		A meningitis that has_material_basis_in a fungal infection.
http://purl.obolibrary.org/obo/DOID_11612	polycystic ovary syndrome	http://purl.obolibrary.org/obo/DOID_1414	ovarian dysfunction		An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight.
http://purl.obolibrary.org/obo/DOID_11623	dental pulp necrosis	http://purl.obolibrary.org/obo/DOID_5330	dental pulp disease		A dental pulp disease characterized by death of the pulp tissue.
http://purl.obolibrary.org/obo/DOID_11629	pelvic muscle wasting	http://purl.obolibrary.org/obo/DOID_1284	prolapse of female genital organ		A prolapse of female genital organ that is characterized by a decrease in muscle mass and tissue in the pelvic floor, vagina, vulva and urinary tract due to aging, menopause and its subsequent reduction of estrogen, or a combination of the two.
http://purl.obolibrary.org/obo/DOID_11650	bronchopulmonary dysplasia	http://purl.obolibrary.org/obo/DOID_850	lung disease		A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.
http://purl.obolibrary.org/obo/DOID_11656	cicatricial pemphigoid	http://purl.obolibrary.org/obo/DOID_0080841	pemphigoid		A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin.
http://purl.obolibrary.org/obo/DOID_1166	palindromic rheumatism	http://purl.obolibrary.org/obo/DOID_848	arthritis		An arthritis that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms.
http://purl.obolibrary.org/obo/DOID_11661	blue color blindness	http://purl.obolibrary.org/obo/DOID_13399	color blindness		A color blindness that is characterized by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function.
http://purl.obolibrary.org/obo/DOID_11668	hypopigmentation of eyelid	http://purl.obolibrary.org/obo/DOID_530	eyelid disease		A pigmentation disease that is characterized by loss of pigmentation of the eyelid and has_symptom white or light macules or patches on the eyelid, and has_material_basis_in autoimmune conditions like vitiligo, chronic inflammation, malignancy, or exposure to destructive substances.
http://purl.obolibrary.org/obo/DOID_11678	onchocerciasis	http://purl.obolibrary.org/obo/DOID_1080	filariasis		A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy.
http://purl.obolibrary.org/obo/DOID_1168	familial hyperlipidemia	http://purl.obolibrary.org/obo/DOID_3146	lipid metabolism disorder		A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.
http://purl.obolibrary.org/obo/DOID_11695	portal vein thrombosis	http://purl.obolibrary.org/obo/DOID_0060903	thrombosis		A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein.
http://purl.obolibrary.org/obo/DOID_117	heart cancer	http://purl.obolibrary.org/obo/DOID_5093	thoracic cancer		A cardiovascular cancer located_in the heart.
http://purl.obolibrary.org/obo/DOID_11701	selective IgA deficiency disease	http://purl.obolibrary.org/obo/DOID_11702	dysgammaglobulinemia		A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract.
http://purl.obolibrary.org/obo/DOID_11702	dysgammaglobulinemia	http://purl.obolibrary.org/obo/DOID_6025	selective immunoglobulin deficiency disease		A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins.
http://purl.obolibrary.org/obo/DOID_11712	lipoatrophic diabetes mellitus	http://purl.obolibrary.org/obo/DOID_9352	type 2 diabetes mellitus		A type 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy.
http://purl.obolibrary.org/obo/DOID_11713	diabetic angiopathy	http://purl.obolibrary.org/obo/DOID_341	peripheral vascular disease		A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.
http://purl.obolibrary.org/obo/DOID_11714	gestational diabetes	http://purl.obolibrary.org/obo/DOID_9351	diabetes mellitus		A diabetes mellitus that manifests during pregnancy.
http://purl.obolibrary.org/obo/DOID_11716	prediabetes syndrome	http://purl.obolibrary.org/obo/DOID_4194	glucose metabolism disease		A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes.
http://purl.obolibrary.org/obo/DOID_11717	neonatal diabetes mellitus	http://purl.obolibrary.org/obo/DOID_9351	diabetes mellitus		A diabetes mellitus that is characterized by hyperglycemia occurring within the first 6 months of life.
http://purl.obolibrary.org/obo/DOID_11718	antidepressant type abuse	http://purl.obolibrary.org/obo/DOID_302	substance abuse		A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences.
http://purl.obolibrary.org/obo/DOID_11720	distal myopathy	http://purl.obolibrary.org/obo/DOID_9884	muscular dystrophy		A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands.
http://purl.obolibrary.org/obo/DOID_11721	glycogen storage disease VII	http://purl.obolibrary.org/obo/DOID_2747	glycogen storage disease		A glycogen storage disease that is characterized by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis and that has_material_basis_in homozygous or compound heterozygous mutation in the PFKM gene, which encodes muscle phosphofructokinase, on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_11722	myotonic dystrophy type 1	http://purl.obolibrary.org/obo/DOID_450	myotonic disease		A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.
http://purl.obolibrary.org/obo/DOID_11723	Duchenne muscular dystrophy	http://purl.obolibrary.org/obo/DOID_9884	muscular dystrophy		A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.
http://purl.obolibrary.org/obo/DOID_11724	limb-girdle muscular dystrophy	http://purl.obolibrary.org/obo/DOID_9884	muscular dystrophy		A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles.
http://purl.obolibrary.org/obo/DOID_11725	Cornelia de Lange syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.
http://purl.obolibrary.org/obo/DOID_11726	Emery-Dreifuss muscular dystrophy	http://purl.obolibrary.org/obo/DOID_9884	muscular dystrophy		A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.
http://purl.obolibrary.org/obo/DOID_11729	Lyme disease	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system.
http://purl.obolibrary.org/obo/DOID_11746	parametrium malignant neoplasm	http://purl.obolibrary.org/obo/DOID_11747	uterine adnexa cancer		A uterine adnexa cancer that is located_in the parametrium.
http://purl.obolibrary.org/obo/DOID_11747	uterine adnexa cancer	http://purl.obolibrary.org/obo/DOID_363	uterine cancer		A uterine cancer that is located_in the adnexa.
http://purl.obolibrary.org/obo/DOID_11748	round ligament malignant neoplasm	http://purl.obolibrary.org/obo/DOID_11747	uterine adnexa cancer		A uterine adnexa cancer that is located_in the round ligament.
http://purl.obolibrary.org/obo/DOID_11750	Bordetella parapertussis whooping cough	http://purl.obolibrary.org/obo/DOID_1116	pertussis		A pertussis that is a milder disease caused by the bacterium Bordetella parapertussis. The disease has_symptom coughing, has_symptom sneezing, or has_symptom runny nose.
http://purl.obolibrary.org/obo/DOID_11754	siderosis of eye	http://purl.obolibrary.org/obo/DOID_9799	eye degenerative disease		An eye degenerative disease that is characterized by intraocular iron toxicity typically due to a retained foreign body.
http://purl.obolibrary.org/obo/DOID_11755	choledocholithiasis	http://purl.obolibrary.org/obo/DOID_4137	common bile duct disease		A common bile duct disease characterized by the presence of at least one gallstone in the common bile duct.
http://purl.obolibrary.org/obo/DOID_11758	iron deficiency anemia	http://purl.obolibrary.org/obo/DOID_11252	microcytic anemia		A microcytic anemia that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells.
http://purl.obolibrary.org/obo/DOID_11759	hypochromic anemia	http://purl.obolibrary.org/obo/DOID_2355	anemia		An anemia that is characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency.
http://purl.obolibrary.org/obo/DOID_1176	bronchial disease	http://purl.obolibrary.org/obo/DOID_0050161	lower respiratory tract disease		A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage.
http://purl.obolibrary.org/obo/DOID_11760	Kohler's disease	http://purl.obolibrary.org/obo/DOID_8125	osteochondrosis		An osteochondrosis that results_in death and collapse located_in navicular bone of foot.
http://purl.obolibrary.org/obo/DOID_11776	absolute glaucoma	http://purl.obolibrary.org/obo/DOID_1686	glaucoma		A glaucoma that is characterized by a total loss of vision, uncontrolled pressure in the eye, severe pain in the eye, absence of pupillary light reflex, absence of pupillary response, and the eye has a stony appearance.
http://purl.obolibrary.org/obo/DOID_11782	astigmatism	http://purl.obolibrary.org/obo/DOID_9835	refractive error		A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision.
http://purl.obolibrary.org/obo/DOID_11797	chronic laryngitis	http://purl.obolibrary.org/obo/DOID_3437	laryngitis		A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease.
http://purl.obolibrary.org/obo/DOID_118	pericardial effusion	http://purl.obolibrary.org/obo/DOID_0050829	pericardium disease		A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity.
http://purl.obolibrary.org/obo/DOID_11801	protein-energy malnutrition	http://purl.obolibrary.org/obo/DOID_5113	nutritional deficiency disease		A nutritional deficiency disease that is characterized by inadequate dietary protein and calories, which can have profound systemic effects including decreased metabolism, altered tissue distribution, compromised immunity, and impaired growth, and has_material_basis_in dietary deprivation.
http://purl.obolibrary.org/obo/DOID_11812	bladder sarcoma	http://purl.obolibrary.org/obo/DOID_1115	sarcoma		A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder.
http://purl.obolibrary.org/obo/DOID_11818	ureteral orifice cancer	http://purl.obolibrary.org/obo/DOID_11054	urinary bladder cancer		An urinary bladder cancer located_in the ureteral orifice.
http://purl.obolibrary.org/obo/DOID_11819	ureter cancer	http://purl.obolibrary.org/obo/DOID_3996	urinary system cancer		A urinary system cancer that is located_in the ureter.
http://purl.obolibrary.org/obo/DOID_11823	hepatorenal syndrome	http://purl.obolibrary.org/obo/DOID_3021	acute kidney failure		An acute kidney failure that is characterized by severe renal vasoconstriction.
http://purl.obolibrary.org/obo/DOID_11824	multicentric reticulohistiocytosis	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis.
http://purl.obolibrary.org/obo/DOID_11830	myopia	http://purl.obolibrary.org/obo/DOID_9835	refractive error		A refractive error characterized by the inability to see farther objects clearly.
http://purl.obolibrary.org/obo/DOID_11836	clubfoot	http://purl.obolibrary.org/obo/DOID_0080006	bone development disease		A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities.
http://purl.obolibrary.org/obo/DOID_11838	penis sarcoma	http://purl.obolibrary.org/obo/DOID_11615	penile cancer		A sarcoma and malignant neoplasm of penis that is located_in the penis.
http://purl.obolibrary.org/obo/DOID_1184	nephrotic syndrome	http://purl.obolibrary.org/obo/DOID_2527	nephrosis		A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.
http://purl.obolibrary.org/obo/DOID_11851	indeterminate leprosy	http://purl.obolibrary.org/obo/DOID_1024	leprosy		A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules.
http://purl.obolibrary.org/obo/DOID_11870	Pick's disease	http://purl.obolibrary.org/obo/DOID_9255	frontotemporal dementia		A frontotemporal dementia that is characterized by a spectrum of neuropsychiatric symptoms ranging from those that affect the patient's personality to those that cause a decline in cognitive function.
http://purl.obolibrary.org/obo/DOID_1188	mononeuropathy	http://purl.obolibrary.org/obo/DOID_870	neuropathy		A neuropathy that is characterized by damage to a single nerve, which results in loss of movement, sensation, or other function of that nerve.
http://purl.obolibrary.org/obo/DOID_11887	ureter leiomyoma	http://purl.obolibrary.org/obo/DOID_127	leiomyoma		An ureteral benign neoplasm that derives_from smooth muscle cells.
http://purl.obolibrary.org/obo/DOID_11889	female breast nipple and areola cancer	http://purl.obolibrary.org/obo/DOID_0050671	female breast cancer		A female breast cancer that is located_in the nipple and areola.
http://purl.obolibrary.org/obo/DOID_119	vaginal cancer	http://purl.obolibrary.org/obo/DOID_121	vaginal disease		A female reproductive system cancer that is located_in the vagina.
http://purl.obolibrary.org/obo/DOID_11905	labium majus cancer	http://purl.obolibrary.org/obo/DOID_1245	vulva cancer		A vulva cancer that is located_in the labium majus.
http://purl.obolibrary.org/obo/DOID_11917	tinea cruris	http://purl.obolibrary.org/obo/DOID_8913	dermatophytosis		A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze.
http://purl.obolibrary.org/obo/DOID_1192	peripheral nervous system neoplasm	http://purl.obolibrary.org/obo/DOID_574	peripheral nervous system disease		A nervous system cancer that is located in the peripheral nervous system.
http://purl.obolibrary.org/obo/DOID_11920	tracheal cancer	http://purl.obolibrary.org/obo/DOID_3225	tracheal disease		A respiratory system cancer that is located_in the trachea.
http://purl.obolibrary.org/obo/DOID_11934	head and neck cancer	http://purl.obolibrary.org/obo/DOID_0050686	organ system cancer		An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx.
http://purl.obolibrary.org/obo/DOID_11968	postmenopausal atrophic vaginitis	http://purl.obolibrary.org/obo/DOID_2170	vaginitis		A vaginitis that occurs in postmenopausal women and is characterized by vaginal atrophy secondary to estrogen deficiency.
http://purl.obolibrary.org/obo/DOID_11971	synostosis	http://purl.obolibrary.org/obo/DOID_1934	dysostosis		A dysostosis that results_in abnormal fusing of adjacent bones.
http://purl.obolibrary.org/obo/DOID_11976	botulism	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located in neuromuscular junction resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F.
http://purl.obolibrary.org/obo/DOID_11983	Prader-Willi syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity.
http://purl.obolibrary.org/obo/DOID_11984	hypertrophic cardiomyopathy	http://purl.obolibrary.org/obo/DOID_0060036	intrinsic cardiomyopathy		An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.
http://purl.obolibrary.org/obo/DOID_11990	ulceroglandular tularemia	http://purl.obolibrary.org/obo/DOID_2123	tularemia		A tularemia that results_in painful regional lymphadenopathy and an ulcerated skin lesion.
http://purl.obolibrary.org/obo/DOID_11991	osteopoikilosis	http://purl.obolibrary.org/obo/DOID_4254	osteosclerosis		An osteosclerosis that results_in numerous bone islands located_in skeleton.
http://purl.obolibrary.org/obo/DOID_120	female reproductive organ cancer	http://purl.obolibrary.org/obo/DOID_229	female reproductive system disease		A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva.
http://purl.obolibrary.org/obo/DOID_12002	trachea sarcoma	http://purl.obolibrary.org/obo/DOID_11920	tracheal cancer		A sarcoma and malignant tumor of trachea that is located_in the trachea.
http://purl.obolibrary.org/obo/DOID_12003	trachea squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_4876	trachea carcinoma		A squamous cell carcinoma that is located_in the trachea.
http://purl.obolibrary.org/obo/DOID_12028	Conn's syndrome	http://purl.obolibrary.org/obo/DOID_656	adrenal adenoma		An adrenal adenoma characterized by the over production of aldosterone.
http://purl.obolibrary.org/obo/DOID_12029	sympathetic ophthalmia	http://purl.obolibrary.org/obo/DOID_12030	panuveitis		A panuveitis that is characterized by bilateral diffuse intraocular inflammation following penetrating trauma to an eye, has_symptom blurry vision, watering, pain, and photophobia.
http://purl.obolibrary.org/obo/DOID_12030	panuveitis	http://purl.obolibrary.org/obo/DOID_13141	uveitis		An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid.
http://purl.obolibrary.org/obo/DOID_1205	allergic disease	http://purl.obolibrary.org/obo/DOID_2914	immune system disease		An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.
http://purl.obolibrary.org/obo/DOID_12053	cryptococcosis	http://purl.obolibrary.org/obo/DOID_2473	opportunistic mycosis		An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii.
http://purl.obolibrary.org/obo/DOID_1206	Rett syndrome	http://purl.obolibrary.org/obo/DOID_0060040	pervasive developmental disorder		A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
http://purl.obolibrary.org/obo/DOID_1209	nutritional optic neuropathy	http://purl.obolibrary.org/obo/DOID_1210	optic neuritis		An optic neuritis that is characterized by nutritional deficiency causing optic nerve dysfunction, has_symptom painless bilateral progressive decrease in visual acuity and color perception, and has_material_basis_in nuritional deficits, especially of folate and vitamin B, which can be associated with restrictive diets and alcohol abuse.
http://purl.obolibrary.org/obo/DOID_12096	sodoku disease	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that results_in infection, has_material_basis_in Spirillum minus, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom relapsing fever, has_symptom rash and has_symptom joint pain.
http://purl.obolibrary.org/obo/DOID_121	vaginal disease	http://purl.obolibrary.org/obo/DOID_229	female reproductive system disease		A female reproductive system disease that is located_in the vagina.
http://purl.obolibrary.org/obo/DOID_1210	optic neuritis	http://purl.obolibrary.org/obo/DOID_1891	optic nerve disease		An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision.
http://purl.obolibrary.org/obo/DOID_12117	pulmonary alveolar microlithiasis	http://purl.obolibrary.org/obo/DOID_850	lung disease		A lung disease that is characterized the accumulation of tiny fragments of calcium phosphate gradually accumulate in the alveoli of the lungs.
http://purl.obolibrary.org/obo/DOID_12118	pulmonary hemosiderosis	http://purl.obolibrary.org/obo/DOID_850	lung disease		A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. Alveolar hemorrhage is characterized by hemoptysis, shortness of breath, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h.
http://purl.obolibrary.org/obo/DOID_12119	hemosiderosis	http://purl.obolibrary.org/obo/DOID_2351	iron metabolism disease		An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload.
http://purl.obolibrary.org/obo/DOID_12120	pulmonary alveolar proteinosis	http://purl.obolibrary.org/obo/DOID_850	lung disease		A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.
http://purl.obolibrary.org/obo/DOID_12124	episcleritis periodica fugax	http://purl.obolibrary.org/obo/DOID_11343	scleral disease		A scleral disease that is characterized by painful inflammation of the episcleral tissues that, importantly, spares the sclera itself and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Episcleritis periodica fugax is typically self-limited but may be related to vascular congestion within the superficial episcleral plexus and associated with autoimmune disease, connective tissue disease, malignancies, trauma, infection, and medications, especially topiramate and pamidronate.
http://purl.obolibrary.org/obo/DOID_12128	pica disease	http://purl.obolibrary.org/obo/DOID_8670	eating disorder		An eating disorder that is characterized by an appetite for non-nutritive substances or food ingredients.
http://purl.obolibrary.org/obo/DOID_12129	bulimia nervosa	http://purl.obolibrary.org/obo/DOID_8670	eating disorder		An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem.
http://purl.obolibrary.org/obo/DOID_12132	granulomatosis with polyangiitis	http://purl.obolibrary.org/obo/DOID_850	lung disease		An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.
http://purl.obolibrary.org/obo/DOID_12134	factor VIII deficiency	http://purl.obolibrary.org/obo/DOID_0061030	hemophilia		A hemophilia that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.
http://purl.obolibrary.org/obo/DOID_12139	dysthymic disorder	http://purl.obolibrary.org/obo/DOID_3324	mood disorder		A mood disorder that involves the presence of a low mood almost daily over a span of at least two years.
http://purl.obolibrary.org/obo/DOID_12140	Chagas disease	http://purl.obolibrary.org/obo/DOID_10113	trypanosomiasis		A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis.
http://purl.obolibrary.org/obo/DOID_12148	alveolar echinococcosis	http://purl.obolibrary.org/obo/DOID_936	brain disease		An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain.
http://purl.obolibrary.org/obo/DOID_12155	lymphocytic choriomeningitis	http://purl.obolibrary.org/obo/DOID_936	brain disease		A viral infectious disease that results in infection located in brain, or located in meninges, or located in brain and meninges, has_material_basis_in lymphocytic choriomeningitis virus (Mammarenavirus choriomeningitidis), which is transmitted by common house mouse, Mus musculus. The infection has symptom fever, has symptom lack of appetite, has symptom headache, has symptom muscle aches, has symptom malaise, has symptom nausea, and has symptom vomiting.
http://purl.obolibrary.org/obo/DOID_12157	aseptic meningitis	http://purl.obolibrary.org/obo/DOID_9471	meningitis		A meningitis that is characterized by meningeal inflammation not caused by an identifiable bacterial pathogen in the cerebrospinal fluid. A large majority of them are caused by enteroviruses.
http://purl.obolibrary.org/obo/DOID_12169	carpal tunnel syndrome	http://purl.obolibrary.org/obo/DOID_573	nerve compression syndrome		A nerve compression syndrome characterized by pressure on the median nerve at the wrist resulting in numbness, tingling, pain, and muscle weakness in the hand and forearm.
http://purl.obolibrary.org/obo/DOID_1217	fascioloidiasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna.
http://purl.obolibrary.org/obo/DOID_12176	goiter	http://purl.obolibrary.org/obo/DOID_50	thyroid gland disease		A thyroid gland disease that involves an abnormal enlargement of the thyroid gland.
http://purl.obolibrary.org/obo/DOID_12177	common variable immunodeficiency	http://purl.obolibrary.org/obo/DOID_2583	agammaglobulinemia		An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that esults in insufficient production of antibodies needed to respond to exposure of pathogens.
http://purl.obolibrary.org/obo/DOID_12179	tinea corporis	http://purl.obolibrary.org/obo/DOID_8913	dermatophytosis		A dermatophytosis that results_in fungal infection located_in skin, limited to the stratum corneum of the epidermis, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, and has_symptom red colored skin rash. The border of the rash lesions look scaly.
http://purl.obolibrary.org/obo/DOID_1218	echinostomiasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain.
http://purl.obolibrary.org/obo/DOID_12185	otosclerosis	http://purl.obolibrary.org/obo/DOID_2952	inner ear disease		An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule.
http://purl.obolibrary.org/obo/DOID_1219	dicrocoeliasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain.
http://purl.obolibrary.org/obo/DOID_12205	dengue disease	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding.
http://purl.obolibrary.org/obo/DOID_12206	dengue hemorrhagic fever	http://purl.obolibrary.org/obo/DOID_12205	dengue disease		A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus (Orthoflavivirus denguei) serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. Four distinct Dengue virus serotypes have been identified.
http://purl.obolibrary.org/obo/DOID_12211	filarial elephantiasis	http://purl.obolibrary.org/obo/DOID_37	skin disease		A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis.
http://purl.obolibrary.org/obo/DOID_12215	oligohydramnios	http://purl.obolibrary.org/obo/DOID_780	placenta disease		A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion.
http://purl.obolibrary.org/obo/DOID_12217	Lewy body dementia	http://purl.obolibrary.org/obo/DOID_1307	dementia		A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.
http://purl.obolibrary.org/obo/DOID_1222	cartilage disease	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A connective tissue disease that is located_in cartilage.
http://purl.obolibrary.org/obo/DOID_12236	primary biliary cholangitis	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.
http://purl.obolibrary.org/obo/DOID_12237	bile reflux	http://purl.obolibrary.org/obo/DOID_9741	biliary tract disease		A biliary tract disease characterized by the flow of bile up into the stomach and/or esophagus.
http://purl.obolibrary.org/obo/DOID_12241	beta thalassemia	http://purl.obolibrary.org/obo/DOID_10241	thalassemia		A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.
http://purl.obolibrary.org/obo/DOID_12259	hemophilia B	http://purl.obolibrary.org/obo/DOID_0061030	hemophilia		A hemophilia that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.
http://purl.obolibrary.org/obo/DOID_12270	coloboma	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.
http://purl.obolibrary.org/obo/DOID_12271	aniridia	http://purl.obolibrary.org/obo/DOID_240	iris disease		An iris disease that is characterized by a complete or partial absence of the colored part of the eye.
http://purl.obolibrary.org/obo/DOID_12275	cutaneous diphtheria	http://purl.obolibrary.org/obo/DOID_4223	pyoderma		A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin.
http://purl.obolibrary.org/obo/DOID_12287	Crimean-Congo hemorrhagic fever	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo haemorrhagic fever virus (Orthonairovirus haemorrhagiae), which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine.
http://purl.obolibrary.org/obo/DOID_1229	paranoid schizophrenia	http://purl.obolibrary.org/obo/DOID_5419	schizophrenia		A schizophrenia characterized by delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening.
http://purl.obolibrary.org/obo/DOID_12294	atypical depressive disorder	http://purl.obolibrary.org/obo/DOID_3324	mood disorder		A mood disorder that is characterized by mood reactivity and positivity, significant weight gain or increased appetite, excessive sleep or somnolence, a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection.
http://purl.obolibrary.org/obo/DOID_12297	Vogt-Koyanagi-Harada disease	http://purl.obolibrary.org/obo/DOID_0060039	autoimmune disease of skin and connective tissue		An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis.
http://purl.obolibrary.org/obo/DOID_12306	vitiligo	http://purl.obolibrary.org/obo/DOID_0060039	autoimmune disease of skin and connective tissue		An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.
http://purl.obolibrary.org/obo/DOID_12308	Dubin-Johnson syndrome	http://purl.obolibrary.org/obo/DOID_2741	bilirubin metabolic disorder		A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile.
http://purl.obolibrary.org/obo/DOID_12318	granular corneal dystrophy	http://purl.obolibrary.org/obo/DOID_0060441	epithelial-stromal TGFBI dystrophy		An epithelial-stromal TGFBI dystrophy that is characterized by progressive accumulation of deposits within the layers of the cornea.
http://purl.obolibrary.org/obo/DOID_12323	cough variant asthma	http://purl.obolibrary.org/obo/DOID_0080809	chronic asthma		A chronic asthma that is characterized by chronic nonproductive cough without shortness of breath.
http://purl.obolibrary.org/obo/DOID_12328	marasmus	http://purl.obolibrary.org/obo/DOID_11801	protein-energy malnutrition		A protein-energy malnutrition that is characterized by severe caloric deprivation, has_symptom emaciation, decreased height and weight gain, and decreased metabolism with hypothermia, bradycardia, and constipation, and has_material_basis_in severe caloric deprivation.
http://purl.obolibrary.org/obo/DOID_1234	gender incongruence	http://purl.obolibrary.org/obo/DOID_0060043	sexual health disorder		A sexual health disorder that involves a conflict between a person's actual physical gender and the gender that person identifies himself or herself as.
http://purl.obolibrary.org/obo/DOID_12341	retroperitoneal sarcoma	http://purl.obolibrary.org/obo/DOID_5875	retroperitoneal cancer		A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space.
http://purl.obolibrary.org/obo/DOID_12347	osteogenesis imperfecta	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.
http://purl.obolibrary.org/obo/DOID_12357	viral labyrinthitis	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A labyrinthitis which involves viral infection of the inner ear through the upper airway or the blood stream. The symptoms may include hearing loss and ringing in the ears. If the virus reaches the vestibular system, dizziness, severe vertigo with nausea and vomiting, and imbalance can occur.
http://purl.obolibrary.org/obo/DOID_12358	patulous eustachian tube	http://purl.obolibrary.org/obo/DOID_9739	eustachian tube disease		A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection.
http://purl.obolibrary.org/obo/DOID_12361	Graves' disease	http://purl.obolibrary.org/obo/DOID_0060005	autoimmune disease of endocrine system		An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.
http://purl.obolibrary.org/obo/DOID_12365	malaria	http://purl.obolibrary.org/obo/DOID_2789	parasitic protozoa infectious disease		A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.
http://purl.obolibrary.org/obo/DOID_12369	prolapse of urethra	http://purl.obolibrary.org/obo/DOID_732	urethral disease		A prolapse of female genital organ that is characterized by the descent of the urethra from the normal anatomic location toward or through the vaginal opening.
http://purl.obolibrary.org/obo/DOID_12375	bronchopneumonia	http://purl.obolibrary.org/obo/DOID_552	pneumonia		A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses.
http://purl.obolibrary.org/obo/DOID_12376	juvenile spinal muscular atrophy	http://purl.obolibrary.org/obo/DOID_0060160	childhood spinal muscular atrophy		A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 gene on chromosome 5q13.
http://purl.obolibrary.org/obo/DOID_12377	spinal muscular atrophy	http://purl.obolibrary.org/obo/DOID_231	motor neuron disease		A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.
http://purl.obolibrary.org/obo/DOID_12384	dysentery	http://purl.obolibrary.org/obo/DOID_100	intestinal infectious disease		An intestinal infectious disease that involves inflammation of the intestines, especially colon, due to chemical irritants, bacteria, protozoa, or parasitic worms, which results in severe diarrhea with passage of mucus and blood.
http://purl.obolibrary.org/obo/DOID_12385	shigellosis	http://purl.obolibrary.org/obo/DOID_5353	colonic disease		A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces.
http://purl.obolibrary.org/obo/DOID_12386	balantidiasis	http://purl.obolibrary.org/obo/DOID_2789	parasitic protozoa infectious disease		A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath.
http://purl.obolibrary.org/obo/DOID_12387	nephrogenic diabetes insipidus	http://purl.obolibrary.org/obo/DOID_9409	diabetes insipidus		A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH).
http://purl.obolibrary.org/obo/DOID_12388	neurohypophyseal diabetes insipidus	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A central diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis and that has_material_basis_in heterozygous mutation in the arginine vasopressin gene (AVP) on chromosome 20p13.
http://purl.obolibrary.org/obo/DOID_12399	pathological gambling	http://purl.obolibrary.org/obo/DOID_10937	impulse control disorder		An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life.
http://purl.obolibrary.org/obo/DOID_1240	leukemia	http://purl.obolibrary.org/obo/DOID_2531	hematologic cancer		A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.
http://purl.obolibrary.org/obo/DOID_12400	kleptomania	http://purl.obolibrary.org/obo/DOID_10937	impulse control disorder		An impulse control disorder that involves the repeated impulse to steal for no great gain, when he or she has sufficient money to pay for the item and no need for what is stolen.
http://purl.obolibrary.org/obo/DOID_12401	intermittent explosive disorder	http://purl.obolibrary.org/obo/DOID_10937	impulse control disorder		An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness.
http://purl.obolibrary.org/obo/DOID_12402	pyromania	http://purl.obolibrary.org/obo/DOID_10937	impulse control disorder		An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive.
http://purl.obolibrary.org/obo/DOID_12403	tinea pedis	http://purl.obolibrary.org/obo/DOID_8913	dermatophytosis		A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot.
http://purl.obolibrary.org/obo/DOID_1242	globe disease	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye disease that involves the globe of the eye.
http://purl.obolibrary.org/obo/DOID_1243	labia minora cancer	http://purl.obolibrary.org/obo/DOID_4159	skin cancer		A vulva cancer that is located_in the labium minora.
http://purl.obolibrary.org/obo/DOID_12449	aplastic anemia	http://purl.obolibrary.org/obo/DOID_720	normocytic anemia		A normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.
http://purl.obolibrary.org/obo/DOID_1245	vulva cancer	http://purl.obolibrary.org/obo/DOID_2059	vulvar disease		A female reproductive organ cancer that is located_in the vulva.
http://purl.obolibrary.org/obo/DOID_12450	pancytopenia	http://purl.obolibrary.org/obo/DOID_2355	anemia		An anemia that is characterized by a reduction in the number of red blood cells, white blood cells, and platelets.
http://purl.obolibrary.org/obo/DOID_1247	blood coagulation disease	http://purl.obolibrary.org/obo/DOID_74	hematopoietic system disease		A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding.
http://purl.obolibrary.org/obo/DOID_12474	capillariasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species.
http://purl.obolibrary.org/obo/DOID_12475	pes anserinus bursitis	http://purl.obolibrary.org/obo/DOID_2965	bursitis		A bursitis that is characterized by inflammation of the bursal sac beneath the pes anserinus, resulting in: medial knee pain.
http://purl.obolibrary.org/obo/DOID_125	vagina leiomyoma	http://purl.obolibrary.org/obo/DOID_127	leiomyoma		A vaginal benign neoplasm that is a benign tumor of smooth muscle cells.
http://purl.obolibrary.org/obo/DOID_12506	Bell's palsy	http://purl.obolibrary.org/obo/DOID_13934	facial paralysis		A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve).
http://purl.obolibrary.org/obo/DOID_1251	tuberculous epididymitis	http://purl.obolibrary.org/obo/DOID_0080373	epididymis disease		An urogenital tuberculosis that is located_in epididymis, has_symptom pain and has_symptom scrotal swelling.
http://purl.obolibrary.org/obo/DOID_12510	retinal ischemia	http://purl.obolibrary.org/obo/DOID_326	ischemia		An ischemia that is characterized by restriction in blood supply to the retina.
http://purl.obolibrary.org/obo/DOID_1252	trichuriasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation.
http://purl.obolibrary.org/obo/DOID_12522	bagassosis	http://purl.obolibrary.org/obo/DOID_841	extrinsic allergic alveolitis		An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes.
http://purl.obolibrary.org/obo/DOID_12531	von Willebrand's disease	http://purl.obolibrary.org/obo/DOID_0061030	hemophilia		A hemophilia that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion.
http://purl.obolibrary.org/obo/DOID_1254	trichostrongylosis	http://purl.obolibrary.org/obo/DOID_1255	trichostrongyloidiasis		A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia.
http://purl.obolibrary.org/obo/DOID_12549	hepatitis A	http://purl.obolibrary.org/obo/DOID_1884	viral hepatitis		A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus (Hepatovirus ahepa), which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
http://purl.obolibrary.org/obo/DOID_1255	trichostrongyloidiasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea.
http://purl.obolibrary.org/obo/DOID_12554	hemolytic-uremic syndrome	http://purl.obolibrary.org/obo/DOID_557	kidney disease		A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs.
http://purl.obolibrary.org/obo/DOID_12556	acute kidney tubular necrosis	http://purl.obolibrary.org/obo/DOID_3021	acute kidney failure		An acute kidney failure that is characterized by necrosis of epithelial tubule cells.
http://purl.obolibrary.org/obo/DOID_12557	Duane retraction syndrome	http://purl.obolibrary.org/obo/DOID_540	strabismus		A strabismus characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction, or both, and narrowing of the palpebral fissure and retraction of the globe on attempted adduction.
http://purl.obolibrary.org/obo/DOID_12559	idiopathic juvenile osteoporosis	http://purl.obolibrary.org/obo/DOID_11476	osteoporosis		An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis.
http://purl.obolibrary.org/obo/DOID_12566	ulceration of vulva	http://purl.obolibrary.org/obo/DOID_2059	vulvar disease		A vulvar disease that is characterized by the presence of ulcers.
http://purl.obolibrary.org/obo/DOID_12568	dyscalculia	http://purl.obolibrary.org/obo/DOID_8927	learning disability		A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page.
http://purl.obolibrary.org/obo/DOID_12570	phacolytic glaucoma	http://purl.obolibrary.org/obo/DOID_12571	phacogenic glaucoma		A phacogenic glaucoma that is characterized by acute onset of open-angle glaucoma secondary to a leaking mature or hypermature cataract and has_symptom chronic progressive vision loss with acute onset of pain, redness, and blurry vision. Phacolytic glaucomas are caused by direct obstruction of aqueous outflow pathways from leaking cataractous lens proteins.
http://purl.obolibrary.org/obo/DOID_12571	phacogenic glaucoma	http://purl.obolibrary.org/obo/DOID_1686	glaucoma		A glaucoma characterized by glaucomatous optic atrophy secondary to a lens abnormality and has_symptom progressive decreased vision, especially decreased peripheral vision. Phacogenic glaucoma can be caused by cataracts, trauma to the eye, or age-related damage that obstructs aqueous outflow, leading to inappropriately increased intraocular pressure and eventual optic nerve atrophy with associated vision loss.
http://purl.obolibrary.org/obo/DOID_12580	Cri-Du-Chat syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat.
http://purl.obolibrary.org/obo/DOID_12581	olecranon bursitis	http://purl.obolibrary.org/obo/DOID_2965	bursitis		A bursitis that is characterized by an inflammation of the bursa, located at the tip of the elbow (olecranon process).
http://purl.obolibrary.org/obo/DOID_12583	velocardiofacial syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations.
http://purl.obolibrary.org/obo/DOID_12594	Potter's syndrome	http://purl.obolibrary.org/obo/DOID_14766	renal agenesis		A renal agenesis characterized by the typical physical appearance and associated pulmonary hypoplasia of a newborn as a direct result of kidney failure, oligohydramnios and compression while in the uterus.
http://purl.obolibrary.org/obo/DOID_12603	acute leukemia	http://purl.obolibrary.org/obo/DOID_1037	lymphoid leukemia		A lymphoid leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity producing large numbers of white blood cells to be produced and enter the blood stream.
http://purl.obolibrary.org/obo/DOID_12637	perineocele	http://purl.obolibrary.org/obo/DOID_1284	prolapse of female genital organ		A prolapse of the female genital organ that is characterized by an isolated central defect and herniation of the posterior perineum in patients without diffuse vaginal prolapse.
http://purl.obolibrary.org/obo/DOID_12638	hypertrophic pyloric stenosis	http://purl.obolibrary.org/obo/DOID_12639	pyloric stenosis		A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting.
http://purl.obolibrary.org/obo/DOID_12662	paracoccidioidomycosis	http://purl.obolibrary.org/obo/DOID_0050292	primary systemic mycosis		A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis.
http://purl.obolibrary.org/obo/DOID_12663	blastomycosis	http://purl.obolibrary.org/obo/DOID_0050292	primary systemic mycosis		A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening.
http://purl.obolibrary.org/obo/DOID_12680	pseudobulbar palsy	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease that is characterized by damage to neurons of the corticobulbar tract, has_symptom dysarthria, has_symptom dysphagia, has_symptom spasticity located_in tongue, has_symptom gag reflex, and has_symptom emotional outbursts.
http://purl.obolibrary.org/obo/DOID_12683	vestibular neuronitis	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent.
http://purl.obolibrary.org/obo/DOID_12685	mixed receptive-expressive language disorder	http://purl.obolibrary.org/obo/DOID_2033	communication disorder		A communication disorder that involves both the receptive and expressive areas of communication may be affected in any degree, from mild to severe.
http://purl.obolibrary.org/obo/DOID_12697	locked-in syndrome	http://purl.obolibrary.org/obo/DOID_863	nervous system disease		A nervous system disease that is characterized by complete paralysis of all voluntary muscles except for the ones that control the movements of the eyes.
http://purl.obolibrary.org/obo/DOID_12698	gynecomastia	http://purl.obolibrary.org/obo/DOID_1923	disorder of sexual development		A disorder of sexual development that is characterized by enlargement or swelling of male breast tissue resulting from elevated male estrogen levels or imbalanced estrogen and testosterone levels.
http://purl.obolibrary.org/obo/DOID_127	leiomyoma	http://purl.obolibrary.org/obo/DOID_0060084	cell type benign neoplasm		A cell type benign neoplasm that is a benign tumor of smooth muscle cells.
http://purl.obolibrary.org/obo/DOID_1270	hereditary hemorrhagic telangiectasia	http://purl.obolibrary.org/obo/DOID_178	vascular disease		A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.
http://purl.obolibrary.org/obo/DOID_12700	hyperprolactinemia	http://purl.obolibrary.org/obo/DOID_0060158	acquired metabolic disease		An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood.
http://purl.obolibrary.org/obo/DOID_12704	ataxia telangiectasia	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22.
http://purl.obolibrary.org/obo/DOID_1271	capillary disease	http://purl.obolibrary.org/obo/DOID_178	vascular disease		A vascular disease that is located_in the capillaries.
http://purl.obolibrary.org/obo/DOID_12711	black piedra	http://purl.obolibrary.org/obo/DOID_0050133	superficial mycosis		A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair.
http://purl.obolibrary.org/obo/DOID_12712	nephronophthisis	http://purl.obolibrary.org/obo/DOID_557	kidney disease		A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy).
http://purl.obolibrary.org/obo/DOID_12714	Ellis-Van Creveld syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the EVC or EVC2 gene on chromosome 4p16.2.
http://purl.obolibrary.org/obo/DOID_12716	newborn respiratory distress syndrome	http://purl.obolibrary.org/obo/DOID_11162	respiratory failure		A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.
http://purl.obolibrary.org/obo/DOID_12718	chronic gonococcal salpingitis	http://purl.obolibrary.org/obo/DOID_5731	chronic salpingitis		A chronic salpingitis that is caused by gonorrhea.
http://purl.obolibrary.org/obo/DOID_12720	cerebral atherosclerosis	http://purl.obolibrary.org/obo/DOID_1936	atherosclerosis		An atherosclerosis of the cerebral vasculature.
http://purl.obolibrary.org/obo/DOID_12721	multiple epiphyseal dysplasia	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain.
http://purl.obolibrary.org/obo/DOID_1273	respiratory syncytial virus infectious disease	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.
http://purl.obolibrary.org/obo/DOID_12735	hernia of ovary and fallopian tube	http://purl.obolibrary.org/obo/DOID_229	female reproductive system disease		A female reproductive system disease that is characterized by the protrusion of the ovary and fallopian tube through a defect inthe abdominal wall.
http://purl.obolibrary.org/obo/DOID_12750	cyclosporiasis	http://purl.obolibrary.org/obo/DOID_2113	coccidiosis		A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue.
http://purl.obolibrary.org/obo/DOID_12783	migraine without aura	http://purl.obolibrary.org/obo/DOID_6364	migraine		A migraine that is characterized by migraine headaches that are not accompanied by an aura.
http://purl.obolibrary.org/obo/DOID_12797	hallucinogen abuse	http://purl.obolibrary.org/obo/DOID_302	substance abuse		A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences.
http://purl.obolibrary.org/obo/DOID_12798	mucopolysaccharidosis	http://purl.obolibrary.org/obo/DOID_3211	lysosomal storage disease		A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine.
http://purl.obolibrary.org/obo/DOID_12799	mucopolysaccharidosis II	http://purl.obolibrary.org/obo/DOID_12798	mucopolysaccharidosis		A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase.
http://purl.obolibrary.org/obo/DOID_12800	mucopolysaccharidosis VI	http://purl.obolibrary.org/obo/DOID_12798	mucopolysaccharidosis		A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.
http://purl.obolibrary.org/obo/DOID_12801	mucopolysaccharidosis III	http://purl.obolibrary.org/obo/DOID_12798	mucopolysaccharidosis		A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.
http://purl.obolibrary.org/obo/DOID_12802	mucopolysaccharidosis I	http://purl.obolibrary.org/obo/DOID_12798	mucopolysaccharidosis		A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase.
http://purl.obolibrary.org/obo/DOID_12803	mucopolysaccharidosis type VII	http://purl.obolibrary.org/obo/DOID_12798	mucopolysaccharidosis		A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans.
http://purl.obolibrary.org/obo/DOID_12804	mucopolysaccharidosis IV	http://purl.obolibrary.org/obo/DOID_12798	mucopolysaccharidosis		A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain.
http://purl.obolibrary.org/obo/DOID_1283	enterocele	http://purl.obolibrary.org/obo/DOID_1284	prolapse of female genital organ		A prolapse of female genital organ that is characterized by the descent of a peritoneal sac containing small bowel into the rectovagnial space causing a bulge in the posterior vaginal wall.
http://purl.obolibrary.org/obo/DOID_1284	prolapse of female genital organ	http://purl.obolibrary.org/obo/DOID_229	female reproductive system disease		A female reproductive system disease that is characterized by the descent of one or more of the pelvic structures (bladder, uterus, vagina) from the normal anatomic location toward or through the vaginal opening.
http://purl.obolibrary.org/obo/DOID_12841	ancylostomiasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition.
http://purl.obolibrary.org/obo/DOID_12842	Guillain-Barre syndrome	http://purl.obolibrary.org/obo/DOID_0060033	autoimmune disease of peripheral nervous system		An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system.
http://purl.obolibrary.org/obo/DOID_12849	autistic disorder	http://purl.obolibrary.org/obo/DOID_0060041	autism spectrum disorder		An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.
http://purl.obolibrary.org/obo/DOID_12857	retrocalcaneal bursitis	http://purl.obolibrary.org/obo/DOID_2965	bursitis		A bursitis that is characterized by an inflammation of the bursa, a fluid-filled sac that cushions the Achilles tendon where it attaches to the heel bone (calcaneus).
http://purl.obolibrary.org/obo/DOID_12858	Huntington's disease	http://purl.obolibrary.org/obo/DOID_1289	neurodegenerative disease		A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.
http://purl.obolibrary.org/obo/DOID_12859	choreatic disease	http://purl.obolibrary.org/obo/DOID_480	movement disease		A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next.
http://purl.obolibrary.org/obo/DOID_1287	cardiovascular system disease	http://purl.obolibrary.org/obo/DOID_7	disease of anatomical entity		A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.
http://purl.obolibrary.org/obo/DOID_12883	hypochondriasis	http://purl.obolibrary.org/obo/DOID_4737	somatoform disorder		A somatoform disorder that involves an excessive preoccupation or worry about having a serious illness.
http://purl.obolibrary.org/obo/DOID_12889	Miller Fisher syndrome	http://purl.obolibrary.org/obo/DOID_12842	Guillain-Barre syndrome		A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia.
http://purl.obolibrary.org/obo/DOID_1289	neurodegenerative disease	http://purl.obolibrary.org/obo/DOID_331	central nervous system disease		A central nervous system disease that results in the progressive deterioration of function or structure of neurons.
http://purl.obolibrary.org/obo/DOID_12894	Sjogren's syndrome	http://purl.obolibrary.org/obo/DOID_0060029	autoimmune disease of exocrine system		An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.
http://purl.obolibrary.org/obo/DOID_12900	Mikulicz disease	http://purl.obolibrary.org/obo/DOID_417	autoimmune disease		An autoimmune disease that is characterized by chronic enlargement of the glands of the head and neck, has_symptom lumps of the face and neck, dry eyes, dry mouth, and intermittent fever, and is often associated with an underlying autoimmune disorder, hematologic malignancy, tuberculosis infection, or syphilis infection.
http://purl.obolibrary.org/obo/DOID_12919	Plasmodium ovale malaria	http://purl.obolibrary.org/obo/DOID_12365	malaria		A malaria characterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously.
http://purl.obolibrary.org/obo/DOID_12926	hypodermyiasis	http://purl.obolibrary.org/obo/DOID_11080	myiasis		A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful.
http://purl.obolibrary.org/obo/DOID_12927	screw worm infectious disease	http://purl.obolibrary.org/obo/DOID_11080	myiasis		A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage.
http://purl.obolibrary.org/obo/DOID_12929	endocardial fibroelastosis	http://purl.obolibrary.org/obo/DOID_0050825	endocardium disease		An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers.
http://purl.obolibrary.org/obo/DOID_1293	labia minora carcinoma	http://purl.obolibrary.org/obo/DOID_1294	vulva carcinoma		A vulva carcinoma that is located_in the labia minora.
http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy	http://purl.obolibrary.org/obo/DOID_0060036	intrinsic cardiomyopathy		An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.
http://purl.obolibrary.org/obo/DOID_1294	vulva carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
http://purl.obolibrary.org/obo/DOID_12960	acrocephalosyndactylia	http://purl.obolibrary.org/obo/DOID_11971	synostosis		A synostosis that results_in craniosynostosis and syndactyly.
http://purl.obolibrary.org/obo/DOID_12961	Poland syndrome	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		A physical disorder that is characterized by missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand.
http://purl.obolibrary.org/obo/DOID_12965	subleukemic leukemia	http://purl.obolibrary.org/obo/DOID_1240	leukemia		A leukemia that is characterized by the presence of abnormal white blood cells located_in peripheral blood, but in which the total number of white blood cells is normal.
http://purl.obolibrary.org/obo/DOID_12969	central nervous system leukemia	http://purl.obolibrary.org/obo/DOID_5772	central nervous system hematologic cancer		A leukemia located_in the central nervous system.
http://purl.obolibrary.org/obo/DOID_12971	hereditary spherocytosis	http://purl.obolibrary.org/obo/DOID_589	congenital hemolytic anemia		A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape.
http://purl.obolibrary.org/obo/DOID_12978	Plasmodium vivax malaria	http://purl.obolibrary.org/obo/DOID_12365	malaria		A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals.
http://purl.obolibrary.org/obo/DOID_12987	agranulocytosis	http://purl.obolibrary.org/obo/DOID_615	leukopenia		A leukopenia that is characterized by a severe lack of of granulocytes with a drop in granulocyte concentration below 200 cells/mm³ of blood.
http://purl.obolibrary.org/obo/DOID_12995	conduct disorder	http://purl.obolibrary.org/obo/DOID_0060038	specific developmental disorder		A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated.
http://purl.obolibrary.org/obo/DOID_13026	lobomycosis	http://purl.obolibrary.org/obo/DOID_1563	dermatomycosis		A dermatomycosis that results in infection located in skin or located in subcutaneous tissue, has_material_basis_in Lacazia loboi and has symptom crusty plaques, has symptom tumors and results in formation of nodular lesions.
http://purl.obolibrary.org/obo/DOID_13027	transient global amnesia	http://purl.obolibrary.org/obo/DOID_10914	amnestic disorder		An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories.
http://purl.obolibrary.org/obo/DOID_13034	relapsing fever	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia, which is transmitted_by tick or transmitted_by body louse.
http://purl.obolibrary.org/obo/DOID_13035	louse-borne relapsing fever	http://purl.obolibrary.org/obo/DOID_13034	relapsing fever		A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia recurrentis, which is transmitted_by body louse (Pediculus humanus). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy.
http://purl.obolibrary.org/obo/DOID_13036	tick-borne relapsing fever	http://purl.obolibrary.org/obo/DOID_13034	relapsing fever		A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia hermsii, has_material_basis_in Borrelia parkeri or has_material_basis_in Borrelia duttoni, which are transmitted_by soft ticks (Ornithodoros parkeri and Ornithodoros hermsii). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy.
http://purl.obolibrary.org/obo/DOID_13046	acute sphenoidal sinusitis	http://purl.obolibrary.org/obo/DOID_10794	sphenoid sinusitis		A sphenoid sinusitis which lasts for less than 4 weeks.
http://purl.obolibrary.org/obo/DOID_13050	corpus luteum cyst	http://purl.obolibrary.org/obo/DOID_5119	ovarian cyst		An ovarian cyst that arises from the accumulation of fluid in the follicle after an oocyte has been release.
http://purl.obolibrary.org/obo/DOID_13060	traumatic glaucoma	http://purl.obolibrary.org/obo/DOID_1686	glaucoma		A glaucoma characterized by elevated intraocular pressure secondary to ocular trauma, which leads to glaucomatous optic nerve atrophy and progressive vision loss and has_symptom progressive decreased vision, visual field defects, and decreased peripheral vision. Traumatic glaucoma is caused by ocular trauma that affects aqueous outflow, such as trauma that leads to inflammation or deposition of proteins in the trabecular network, that changes the anterior chamber angle, or that causes chronic inflammation.
http://purl.obolibrary.org/obo/DOID_1307	dementia	http://purl.obolibrary.org/obo/DOID_1561	cognitive disorder		A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.
http://purl.obolibrary.org/obo/DOID_13074	tinea unguium	http://purl.obolibrary.org/obo/DOID_8913	dermatophytosis		A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved.
http://purl.obolibrary.org/obo/DOID_13078	eumycotic mycetoma	http://purl.obolibrary.org/obo/DOID_1563	dermatomycosis		A dermatomycosis that effects skin and subcutaneous tissue located in foot, located in trunk, located in buttocks, located in eyelids, located in lacrimal glands, located in paranasal sinuses, located in mandible, located in scalp, located in neck, located in perineum, or located in testes and has symptom sinus discharge and results in formation of nodules.
http://purl.obolibrary.org/obo/DOID_13080	Jaccoud's syndrome	http://purl.obolibrary.org/obo/DOID_417	autoimmune disease		An autoimmune disease that is characterized by severe non-erosive arthropathy with ulnar deviation of the 2nd to 5th digits and metacarpophalangeal joint subluxation without evidence of synovitis, and may be associated with systemic lupus erythematosus, rheumatic fever, and ligamentous laxity.
http://purl.obolibrary.org/obo/DOID_13087	Lown-Ganong-Levine syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles.
http://purl.obolibrary.org/obo/DOID_13096	Sneddon syndrome	http://purl.obolibrary.org/obo/DOID_0050828	artery disease		An artery disease that is characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood and that has_material_basis_in compound heterozygous mutation in the CECR1 gene (ADA2) on chromosome 22q11.
http://purl.obolibrary.org/obo/DOID_13098	central retinal artery occlusion	http://purl.obolibrary.org/obo/DOID_8483	retinal artery occlusion		A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery.
http://purl.obolibrary.org/obo/DOID_13099	Moyamoya disease	http://purl.obolibrary.org/obo/DOID_3527	cerebral arterial disease		A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.
http://purl.obolibrary.org/obo/DOID_13109	bladder leiomyoma	http://purl.obolibrary.org/obo/DOID_127	leiomyoma		A bladder benign neoplasm that derives_from smooth muscle cells.
http://purl.obolibrary.org/obo/DOID_13117	paronychia	http://purl.obolibrary.org/obo/DOID_4123	nail disease		A nail disease characterized by often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate.
http://purl.obolibrary.org/obo/DOID_13120	protein-deficiency anemia	http://purl.obolibrary.org/obo/DOID_5113	nutritional deficiency disease		A nutritional deficiency disease that is characterized by inadequate protein intake.
http://purl.obolibrary.org/obo/DOID_13129	severe pre-eclampsia	http://purl.obolibrary.org/obo/DOID_10591	pre-eclampsia		A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption.
http://purl.obolibrary.org/obo/DOID_13133	HELLP syndrome	http://purl.obolibrary.org/obo/DOID_13129	severe pre-eclampsia		A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count.
http://purl.obolibrary.org/obo/DOID_13134	hordeolum externum	http://purl.obolibrary.org/obo/DOID_9423	blepharitis		A blepharitis that is characterized by an infection of the sebaceous glands of Zeis at the base of the eyelashes, or an infection of the apocrine sweat glands of Moll.
http://purl.obolibrary.org/obo/DOID_13137	Werdnig-Hoffmann disease	http://purl.obolibrary.org/obo/DOID_0060160	childhood spinal muscular atrophy		A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13.
http://purl.obolibrary.org/obo/DOID_13140	suppurative uveitis	http://purl.obolibrary.org/obo/DOID_13141	uveitis		A uveitis characterized by inflammation and pus formation of the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid, and has_symptom pain, blurry vision, and eye redness. Suppurative uveitis is typically caused by infection, especially by bacterial infection post-operatively or post-traumatically.
http://purl.obolibrary.org/obo/DOID_13141	uveitis	http://purl.obolibrary.org/obo/DOID_3480	uveal disease		An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.
http://purl.obolibrary.org/obo/DOID_13145	benign renovascular hypertension	http://purl.obolibrary.org/obo/DOID_13143	benign secondary hypertension		A benign secondary hypertension that is characterized by chronic elevated blood pressure in the arteries supplying blood to the kidneys and has_material_basis_in renal artery stenosis.
http://purl.obolibrary.org/obo/DOID_13146	esophageal candidiasis	http://purl.obolibrary.org/obo/DOID_6050	esophageal disease		A candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain.
http://purl.obolibrary.org/obo/DOID_13148	acute cystitis	http://purl.obolibrary.org/obo/DOID_1679	cystitis		A cystitis characterized by a sudden onset or severe symptoms.
http://purl.obolibrary.org/obo/DOID_13159	scrotum squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_3445	scrotal carcinoma		A squamous cell carcinoma that is located_in the scrotum.
http://purl.obolibrary.org/obo/DOID_13166	allergic bronchopulmonary aspergillosis	http://purl.obolibrary.org/obo/DOID_13564	aspergillosis		An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has symptom cough, has symptom wheezing and has symptom fever.
http://purl.obolibrary.org/obo/DOID_13189	gout	http://purl.obolibrary.org/obo/DOID_848	arthritis		An arthritis that has_material_basis_in uric acid crystal deposits located_in joint.
http://purl.obolibrary.org/obo/DOID_1319	brain cancer	http://purl.obolibrary.org/obo/DOID_936	brain disease		A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.
http://purl.obolibrary.org/obo/DOID_13198	endemic goiter	http://purl.obolibrary.org/obo/DOID_5113	nutritional deficiency disease		A nutritional deficiency disease characterized by noncancerous enlargement of the thyroid gland and has_material_basis_in iodine deficiency.
http://purl.obolibrary.org/obo/DOID_13222	submucous uterine fibroid	http://purl.obolibrary.org/obo/DOID_13223	uterine fibroid		An uterine fibroid that is located adjacent to the lining of the uterus.
http://purl.obolibrary.org/obo/DOID_13223	uterine fibroid	http://purl.obolibrary.org/obo/DOID_0060095	uterine benign neoplasm		An uterine benign neoplasm derived from the smooth muscle layer of the uterus.
http://purl.obolibrary.org/obo/DOID_13226	oculoglandular tularemia	http://purl.obolibrary.org/obo/DOID_2123	tularemia		A tularemia that results_in inflammation of eye and swelling of lymph glands in front of the ear.
http://purl.obolibrary.org/obo/DOID_13238	Haverhill fever	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that results_in infection, has_material_basis_in Streptobacillus moniliformis, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom fever, has_symptom rash and has_symptom joint pain.
http://purl.obolibrary.org/obo/DOID_1324	lung cancer	http://purl.obolibrary.org/obo/DOID_850	lung disease		A respiratory system cancer that is located_in the lung.
http://purl.obolibrary.org/obo/DOID_13241	Behcet's disease	http://purl.obolibrary.org/obo/DOID_865	vasculitis		An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.
http://purl.obolibrary.org/obo/DOID_1325	bronchus cancer	http://purl.obolibrary.org/obo/DOID_1176	bronchial disease		A respiratory system cancer that is located_in the bronchus.
http://purl.obolibrary.org/obo/DOID_13250	diarrhea	http://purl.obolibrary.org/obo/DOID_77	gastrointestinal system disease		A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea.
http://purl.obolibrary.org/obo/DOID_13254	diverticulitis of colon	http://purl.obolibrary.org/obo/DOID_7475	diverticulitis		A colonic disease characterized by the formation and inflammation of diverticula within the colon wall.
http://purl.obolibrary.org/obo/DOID_13258	typhoid fever	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia.
http://purl.obolibrary.org/obo/DOID_13268	porphyria	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.
http://purl.obolibrary.org/obo/DOID_13270	erythropoietic protoporphyria	http://purl.obolibrary.org/obo/DOID_3133	acute porphyria		An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.
http://purl.obolibrary.org/obo/DOID_13272	Klebsiella pneumonia	http://purl.obolibrary.org/obo/DOID_874	bacterial pneumonia		A bacterial pneumonia involving Klebsiella pneumoniae infection. Patients with Klebsiella pneumonia tend to cough up a characteristic sputum that is said to resemble red-currant jelly. Klebsiella pneumonia tends to affect people with underlying diseases, such as alcoholism, diabetes and chronic lung disease. The symptoms include high fever, rigors and pleuritic pain, and hemoptysis.
http://purl.obolibrary.org/obo/DOID_13276	Mycoplasma pneumoniae pneumonia	http://purl.obolibrary.org/obo/DOID_874	bacterial pneumonia		A bacterial pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat.
http://purl.obolibrary.org/obo/DOID_1328	Rift Valley fever	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in infection, has_material_basis_in Rift Valley fever virus (Phlebovirus riftense), which is transmitted_by Aedes mosquitoes. The virus affects domestic animals (cattle, buffalo, sheep, goats, and camels) and humans. The infection has_symptom jaundice, has_symptom vomiting blood, has_symptom passing blood in the feces, has_symptom ecchymoses (caused by bleeding in the skin), has_symptom bleeding from the nose or gums, has_symptom menorrhagia and has_symptom bleeding from venepuncture sites.
http://purl.obolibrary.org/obo/DOID_13282	intestinal tuberculosis	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		A gastrointestinal tuberculosis that involves diffuse mucosal fold thickening, formation of ulcers and fistulae located_in intestine. The infection has_symptom abdominal pain, has_symptom gastrointestinal bleeding, has_symptom nausea and has_symptom vomiting.
http://purl.obolibrary.org/obo/DOID_133	vaginal Mullerian papilloma	http://purl.obolibrary.org/obo/DOID_0060114	vaginal benign neoplasm		A vaginal benign neoplasm that presents in childhood and is considered to be of Mullerian origin.
http://purl.obolibrary.org/obo/DOID_13300	Scheuermann's disease	http://purl.obolibrary.org/obo/DOID_8125	osteochondrosis		An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column.
http://purl.obolibrary.org/obo/DOID_13306	diphtheritic cystitis	http://purl.obolibrary.org/obo/DOID_1679	cystitis		A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder.
http://purl.obolibrary.org/obo/DOID_13310	diphtheritic peritonitis	http://purl.obolibrary.org/obo/DOID_8283	peritonitis		A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae.
http://purl.obolibrary.org/obo/DOID_13316	exocrine pancreatic insufficiency	http://purl.obolibrary.org/obo/DOID_26	pancreas disease		A pancreas disease that is characterized by the inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine.
http://purl.obolibrary.org/obo/DOID_13317	hyperinsulinemic hypoglycemia	http://purl.obolibrary.org/obo/DOID_9993	hypoglycemia		A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.
http://purl.obolibrary.org/obo/DOID_13327	anatomical narrow angle borderline glaucoma	http://purl.obolibrary.org/obo/DOID_9283	borderline glaucoma		A borderline glaucoma characterized by an anatomically narrow anterior chamber angle with or without additional clinical features and risk factors associated with high likelihood of developing glaucomatous optic atrophy in the future. These additional features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy.
http://purl.obolibrary.org/obo/DOID_13328	diabetic cataract	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that is characterized by loss of lens transparency secondary to hyperglycemia related to diabetes mellitus.
http://purl.obolibrary.org/obo/DOID_13336	congenital toxoplasmosis	http://purl.obolibrary.org/obo/DOID_9965	toxoplasmosis		A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur.
http://purl.obolibrary.org/obo/DOID_13352	ego-dystonic sexual orientation	http://purl.obolibrary.org/obo/DOID_0060043	sexual health disorder		A sexual health disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation.
http://purl.obolibrary.org/obo/DOID_13357	chondromalacia patellae	http://purl.obolibrary.org/obo/DOID_2557	chondromalacia		A chondromalacia that is characterized by well-localized pain when the patella is grated against the femoral condyles or when the knee is actively extended with the patella manually displaced distally. This occurs when the posterior articular surface of the patella starts losing its density when in a healthy state and becomes softer with subsequent tearing, fissuring, and erosion of the hyaline cartilage.
http://purl.obolibrary.org/obo/DOID_13359	Ehlers-Danlos syndrome	http://purl.obolibrary.org/obo/DOID_854	collagen disease		A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.
http://purl.obolibrary.org/obo/DOID_13365	reading disorder	http://purl.obolibrary.org/obo/DOID_8927	learning disability		A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process.
http://purl.obolibrary.org/obo/DOID_13366	Stiff-Person syndrome	http://purl.obolibrary.org/obo/DOID_480	movement disease		A movement disease that is of unknown etiology characterized by progressive rigidity.
http://purl.obolibrary.org/obo/DOID_13368	tinea profunda	http://purl.obolibrary.org/obo/DOID_12179	tinea corporis		A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses.
http://purl.obolibrary.org/obo/DOID_13369	tinea manuum	http://purl.obolibrary.org/obo/DOID_8913	dermatophytosis		A dermatophytosis that results_in fungal skin infection located_in hand, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, has_symptom burning, has_symptom cracking, and has_symptom scaling.
http://purl.obolibrary.org/obo/DOID_13371	scrub typhus	http://purl.obolibrary.org/obo/DOID_11256	typhus		A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted by trombiculid mites (Leptotrombidium deliense). The infection has symptom fever, has symptom headache, has symptom muscle pain, has symptom cough, has symptom maculopapular rash, has symptom eschar, has symptom splenomegaly and has symptom lymphadenopathy.
http://purl.obolibrary.org/obo/DOID_13372	alpha 1-antitrypsin deficiency	http://purl.obolibrary.org/obo/DOID_2345	plasma protein metabolism disease		A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.
http://purl.obolibrary.org/obo/DOID_13374	fibrodysplasia ossificans progressiva	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene.
http://purl.obolibrary.org/obo/DOID_13375	temporal arteritis	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.
http://purl.obolibrary.org/obo/DOID_13378	Kawasaki disease	http://purl.obolibrary.org/obo/DOID_1602	lymphadenitis		A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.
http://purl.obolibrary.org/obo/DOID_1338	congenital dyserythropoietic anemia	http://purl.obolibrary.org/obo/DOID_589	congenital hemolytic anemia		A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood.
http://purl.obolibrary.org/obo/DOID_13381	pernicious anemia	http://purl.obolibrary.org/obo/DOID_5113	nutritional deficiency disease		A nutritional deficiency disease that is characterized by a decrease in red blood cells due to malabsorption of vitamin B12, has_symptom fatigue, pallor, shortness of breath, glossitis, ataxia, and/or paresthesia, has_material_basis_in atrophic gastritis, autoimmune disorder affecting the production or function of intrinsic factor, and/or genetic factors.
http://purl.obolibrary.org/obo/DOID_13382	megaloblastic anemia	http://purl.obolibrary.org/obo/DOID_2361	macrocytic anemia		A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production.
http://purl.obolibrary.org/obo/DOID_13386	gastrointestinal anthrax	http://purl.obolibrary.org/obo/DOID_77	gastrointestinal system disease		An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite.
http://purl.obolibrary.org/obo/DOID_13389	labia majora carcinoma	http://purl.obolibrary.org/obo/DOID_4159	skin cancer		A vulva carcinoma that is located_in the labia majora.
http://purl.obolibrary.org/obo/DOID_1339	Diamond-Blackfan anemia	http://purl.obolibrary.org/obo/DOID_1340	pure red-cell aplasia		A pure red-cell aplasia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction.
http://purl.obolibrary.org/obo/DOID_13399	color blindness	http://purl.obolibrary.org/obo/DOID_1432	blindness		A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions.
http://purl.obolibrary.org/obo/DOID_134	vaginal glandular tumor	http://purl.obolibrary.org/obo/DOID_119	vaginal cancer		A vaginal cancer that has_material_basis_in glandular tissue.
http://purl.obolibrary.org/obo/DOID_1340	pure red-cell aplasia	http://purl.obolibrary.org/obo/DOID_1342	congenital hypoplastic anemia		A congenital hypoplastic anemia that is characterized by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow.
http://purl.obolibrary.org/obo/DOID_13403	neurosarcoidosis	http://purl.obolibrary.org/obo/DOID_11335	sarcoidosis		A sarcoidosis that is characterized by involvement of the nervous symptom with cranial nerve palsy, diffuse meningeal disease, acute polyneuropathy, myelitis, or hypothalamic pituitary axis malformation, develops_from a type IV hypersensitivity reaction with noncaseating granulomas involving the nervous system.
http://purl.obolibrary.org/obo/DOID_13404	uveoparotid fever	http://purl.obolibrary.org/obo/DOID_11335	sarcoidosis		A sarcoidosis that is characterized by unilateral facial nerve palsy, parotid gland enlargement, anterior uveitis, and low grade fever, and develops_from a type IV hypersensitivity reaction with noncaseating granulomatous infiltration of especially the parotid glands which compresses the facial nerve.
http://purl.obolibrary.org/obo/DOID_13405	cardiac sarcoidosis	http://purl.obolibrary.org/obo/DOID_11335	sarcoidosis		A sarcoidosis that is characterized by conduction abnormalities, arrhythmias, and congestive heart failure with noncaseating granulomas present on endomyocardial biopsy, and develops_from a type IV hypersensitivity reaction with noncaseating granulomas infiltrating the myocardial tissue, especially that of the left ventricle.
http://purl.obolibrary.org/obo/DOID_13406	pulmonary sarcoidosis	http://purl.obolibrary.org/obo/DOID_850	lung disease		A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.
http://purl.obolibrary.org/obo/DOID_13413	hepatic encephalopathy	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood.
http://purl.obolibrary.org/obo/DOID_13417	alexia	http://purl.obolibrary.org/obo/DOID_4090	agnosia		An agnosia that is a loss of the ability to recognize text.
http://purl.obolibrary.org/obo/DOID_1342	congenital hypoplastic anemia	http://purl.obolibrary.org/obo/DOID_12449	aplastic anemia		An aplastic anemia that is characterized by insufficient production of red blood cells, usually seen in the first year of life.
http://purl.obolibrary.org/obo/DOID_13431	bejel	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that results in infection located in mucosa of mouth, located in skin or located in bone, has_material_basis_in Treponema pallidum subsp endemicum, which is transmitted by contact or transmitted by sharing of domestic utensils. The infection has symptom moist patches in the mouth, has symptom lumps in long bones, tissues around the mouth, nose, and roof of the mouth. These lumps destroy tissue, causing bones to be deformed and disfiguring the face.
http://purl.obolibrary.org/obo/DOID_13444	glanders	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that results in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has symptom fever, has symptom chills, has symptom sweating, has symptom muscle aches, has symptom chest pain, has symptom muscle tightness, has symptom headache, has symptom mucopurulent nasal discharge, and has symptom nodular lesions in the lungs.
http://purl.obolibrary.org/obo/DOID_13450	coccidioidomycosis	http://purl.obolibrary.org/obo/DOID_0050292	primary systemic mycosis		A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules.
http://purl.obolibrary.org/obo/DOID_13453	gonococcal bursitis	http://purl.obolibrary.org/obo/DOID_2965	bursitis		A bursitis that is characterized by an inflammation of a bursa caused by the Neisseria gonorrhoeae bacteria, resulting from gonorrhea that has spread to other parts of the body.
http://purl.obolibrary.org/obo/DOID_13473	central pterygium	http://purl.obolibrary.org/obo/DOID_13474	progressive peripheral pterygium		A progressive peripheral pterygium that is characterized by progressive fleshy outpouching of conjunctival growth that has grown to involve the visual axis and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Central pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Central pterygiums progress from pinguecula.
http://purl.obolibrary.org/obo/DOID_13474	progressive peripheral pterygium	http://purl.obolibrary.org/obo/DOID_10526	conjunctival pterygium		A conjunctival pterygium that is characterized by progressive (as opposed to quiescent) fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Progressive peripheral pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Progressive peripheral pterygiums progress from pinguecula.
http://purl.obolibrary.org/obo/DOID_13477	balanitis xerotica obliterans	http://purl.obolibrary.org/obo/DOID_13033	balanitis		A balantitis characterized by white plaques or patches on genitals.
http://purl.obolibrary.org/obo/DOID_13481	thanatophoric dysplasia	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that results_in short arms and legs with excess folds of skin.
http://purl.obolibrary.org/obo/DOID_13482	Proteus syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by highly variable, progressive features including asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, vascular malformations, dysmorphic facies with seizures or intellectual disability, and tumors that has_material_basis_in mosaicism for a somatic activating mutation in the AKT1 gene on chromosome 14q32.3. There is significant risk of deep vein thrombosis.
http://purl.obolibrary.org/obo/DOID_13487	childhood disintegrative disease	http://purl.obolibrary.org/obo/DOID_0060040	pervasive developmental disorder		A pervasive developmental disorder that is a rare condition characterized by late onset (greater than 3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress.
http://purl.obolibrary.org/obo/DOID_135	benign vaginal carcinosarcoma	http://purl.obolibrary.org/obo/DOID_0060114	vaginal benign neoplasm		A vaginal benign neoplasm that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.
http://purl.obolibrary.org/obo/DOID_13501	Moebius syndrome	http://purl.obolibrary.org/obo/DOID_1756	facial nerve disease		A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s).
http://purl.obolibrary.org/obo/DOID_13515	tuberous sclerosis	http://purl.obolibrary.org/obo/DOID_0070656	hamartoma syndrome		A hamartoma syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.
http://purl.obolibrary.org/obo/DOID_13521	tetanus neonatorum	http://purl.obolibrary.org/obo/DOID_11338	tetanus		A tetanus that occurs in newborn babies when the birth cord stump gets dirty through cutting it with an unclean blade or applying substances containing bacteria to it. The infection has symptom stiff body, has symptom muscle spasms, has symptom difficulty in breathing, and has symptom exhaustion.
http://purl.obolibrary.org/obo/DOID_13523	loiasis	http://purl.obolibrary.org/obo/DOID_5614	eye disease		A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis.
http://purl.obolibrary.org/obo/DOID_13533	osteopetrosis	http://purl.obolibrary.org/obo/DOID_4254	osteosclerosis		An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones.
http://purl.obolibrary.org/obo/DOID_13534	purulent labyrinthitis	http://purl.obolibrary.org/obo/DOID_1468	labyrinthitis		A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma.
http://purl.obolibrary.org/obo/DOID_13543	hyperparathyroidism	http://purl.obolibrary.org/obo/DOID_11201	parathyroid gland disease		A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body.
http://purl.obolibrary.org/obo/DOID_13544	low tension glaucoma	http://purl.obolibrary.org/obo/DOID_1067	open-angle glaucoma		An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision.
http://purl.obolibrary.org/obo/DOID_13549	interval angle-closure glaucoma	http://purl.obolibrary.org/obo/DOID_1405	primary angle-closure glaucoma		A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening optic nerve damage and visual field loss; but that typically resolves spontaneously after several hours, even though it may recur. Interval angle-closure glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights that resolves spontaneously. Interval angle-closure glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow.
http://purl.obolibrary.org/obo/DOID_13550	angle-closure glaucoma	http://purl.obolibrary.org/obo/DOID_1686	glaucoma		A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.
http://purl.obolibrary.org/obo/DOID_13560	subserous uterine fibroid	http://purl.obolibrary.org/obo/DOID_13223	uterine fibroid		An uterine fibroid that is located adjacent to the outside of the uterus.
http://purl.obolibrary.org/obo/DOID_13564	aspergillosis	http://purl.obolibrary.org/obo/DOID_2473	opportunistic mycosis		An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.
http://purl.obolibrary.org/obo/DOID_13565	neuroaspergillosis	http://purl.obolibrary.org/obo/DOID_863	nervous system disease		An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion.
http://purl.obolibrary.org/obo/DOID_13574	cortical senile cataract	http://purl.obolibrary.org/obo/DOID_9669	senile cataract		A senile cataract that is characterized by opacification of the lens cortex, caused by dehydration of lens fibers, and is related to aging.
http://purl.obolibrary.org/obo/DOID_13576	twin-to-twin transfusion syndrome	http://purl.obolibrary.org/obo/DOID_11244	neonatal anemia		A neonatal anemia that is characterized by an increased number of arteriovenous anastomoses deep in the placenta. These capillary connections occur in the cotyledon portion of the placenta. Unidirectional flow can occur in these arteriovenous anastomoses and result in shunting of blood towards one twin and away from the other when the arteriovenous anastomoses are unbalanced.
http://purl.obolibrary.org/obo/DOID_13579	kwashiorkor	http://purl.obolibrary.org/obo/DOID_11801	protein-energy malnutrition		A protein-energy malnutrition that is characterized by severe lack of protein and edema or anasarca, has_symptom swelling, gastrointestinal upset, dehydration, thin dry skin, and cough, and has_material_basis_in severe deficit of protein, resulting in lack of albumin causing decreased oncotic pressure in the vasculature and increased activation of the renin-angiotensin axis and antidiuretic hormone.
http://purl.obolibrary.org/obo/DOID_13580	cholestasis	http://purl.obolibrary.org/obo/DOID_4138	bile duct disease		A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.
http://purl.obolibrary.org/obo/DOID_13589	female infertility of uterine origin	http://purl.obolibrary.org/obo/DOID_345	uterine disease		A uterine disease that is characterized by an inability to get pregnant despite having carefully timed, unprotected sex for one year.
http://purl.obolibrary.org/obo/DOID_13593	eclampsia	http://purl.obolibrary.org/obo/DOID_10591	pre-eclampsia		A pre-eclampsia characterized by the presence of seizures.
http://purl.obolibrary.org/obo/DOID_136	vaginal carcinosarcoma	http://purl.obolibrary.org/obo/DOID_0050918	vaginal carcinoma		A vaginal carcinoma that has_material_basis_in connective tissue.
http://purl.obolibrary.org/obo/DOID_13603	obstructive jaundice	http://purl.obolibrary.org/obo/DOID_13580	cholestasis		A cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction.
http://purl.obolibrary.org/obo/DOID_13608	biliary atresia	http://purl.obolibrary.org/obo/DOID_13580	cholestasis		A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.
http://purl.obolibrary.org/obo/DOID_13619	extrahepatic cholestasis	http://purl.obolibrary.org/obo/DOID_13580	cholestasis		A cholestasis resulting from causes located_in bile ducts outside the liver.
http://purl.obolibrary.org/obo/DOID_1362	paranasal sinus sarcoma	http://purl.obolibrary.org/obo/DOID_1115	sarcoma		A sarcoma and malignant tumor of nasal sinuses that is located_in the paranasal sinus.
http://purl.obolibrary.org/obo/DOID_13622	campylobacteriosis	http://purl.obolibrary.org/obo/DOID_104	bacterial infectious disease		A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever.
http://purl.obolibrary.org/obo/DOID_13628	favism	http://purl.obolibrary.org/obo/DOID_2862	glucosephosphate dehydrogenase deficiency		A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans.
http://purl.obolibrary.org/obo/DOID_13636	Fanconi anemia	http://purl.obolibrary.org/obo/DOID_1342	congenital hypoplastic anemia		A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.
http://purl.obolibrary.org/obo/DOID_13641	exfoliation syndrome	http://purl.obolibrary.org/obo/DOID_240	iris disease		A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.
http://purl.obolibrary.org/obo/DOID_13677	SAPHO syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by synovitis, acne, pustulosis, hyperostosis and osteitis.
http://purl.obolibrary.org/obo/DOID_13690	acute gonococcal cystitis	http://purl.obolibrary.org/obo/DOID_13148	acute cystitis		An acute cystitis that is caused by gonorrhea.
http://purl.obolibrary.org/obo/DOID_13691	dermoid cyst of skin	http://purl.obolibrary.org/obo/DOID_3165	skin benign neoplasm		A dermoid cyst that is located_in the skin.
http://purl.obolibrary.org/obo/DOID_137	vaginal squamous papilloma	http://purl.obolibrary.org/obo/DOID_0060114	vaginal benign neoplasm		A vaginal benign neoplasm that is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium.
http://purl.obolibrary.org/obo/DOID_1371	uterine corpus adenomatoid tumor	http://purl.obolibrary.org/obo/DOID_657	adenoma		An uterine benign neoplasm that is characterized by the formation of gland-like structures, arises from the uterine serosa and myometrium, and has_material_basis_in the mesothelium.
http://purl.obolibrary.org/obo/DOID_13711	dental fluorosis	http://purl.obolibrary.org/obo/DOID_1091	tooth disease		A tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during tooth formation.
http://purl.obolibrary.org/obo/DOID_13714	anodontia	http://purl.obolibrary.org/obo/DOID_1091	tooth disease		A tooth disease that is characterized by complete absence of permanent teeth.
http://purl.obolibrary.org/obo/DOID_13717	mature cataract	http://purl.obolibrary.org/obo/DOID_9669	senile cataract		A senile cataract that is characterized by full white or brunescent opacification of the lens of the eye such that the red reflex is obscured. It is a later stage of senile cataracts and is caused by a multifactorial etiology related to aging.
http://purl.obolibrary.org/obo/DOID_13722	neuroschistosomiasis	http://purl.obolibrary.org/obo/DOID_936	brain disease		A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure.
http://purl.obolibrary.org/obo/DOID_13724	scurvy	http://purl.obolibrary.org/obo/DOID_5113	nutritional deficiency disease		A nutritional deficiency disease that is characterized by vitamin C (ascorbic acid) deficiency and has_symptom fatigue, weakness, anemia, petechiae, corkscrew hair, gingivitis, and poor wound healing.
http://purl.obolibrary.org/obo/DOID_13725	beriberi	http://purl.obolibrary.org/obo/DOID_0070313	thiamine deficiency disease		A thiamine deficiency disease that is characterized by being severe and chronic.
http://purl.obolibrary.org/obo/DOID_1373	endometrial stromal nodule	http://purl.obolibrary.org/obo/DOID_0060095	uterine benign neoplasm		An uterine benign neoplasm that has_material_basis_in cells reminiscent of proliferative phase endometrial stroma.
http://purl.obolibrary.org/obo/DOID_13736	uterine inflammatory disease	http://purl.obolibrary.org/obo/DOID_345	uterine disease		A uterine disease that is characterized by inflammation.
http://purl.obolibrary.org/obo/DOID_13743	spinal cord lipoma	http://purl.obolibrary.org/obo/DOID_6293	central nervous system lipoma		A central nervous system lipoma that is characterized by abnormal fat accumulation in and around the spinal cord.
http://purl.obolibrary.org/obo/DOID_13760	Pthirus pubis infestation	http://purl.obolibrary.org/obo/DOID_5502	lice infestation		A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin.
http://purl.obolibrary.org/obo/DOID_13767	clonorchiasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop.
http://purl.obolibrary.org/obo/DOID_13768	opisthorchiasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and cholangiocarcinoma.
http://purl.obolibrary.org/obo/DOID_13774	Addison's disease	http://purl.obolibrary.org/obo/DOID_10493	adrenal cortical hypofunction		An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands.
http://purl.obolibrary.org/obo/DOID_13775	plantar wart	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results_in benign epithelial tumors located_in skin of the sole or toes of the foot, has_material_basis_in human papillomavirus (types 1, 2, 4 or 63), has_symptom lesions that appear on the sole of the foot.
http://purl.obolibrary.org/obo/DOID_13777	epidermodysplasia verruciformis	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body.
http://purl.obolibrary.org/obo/DOID_13778	chancroid	http://purl.obolibrary.org/obo/DOID_37	skin disease		A primary bacterial infectious disease that is a sexually transmitted infection located in skin of the genitals, has_material_basis_in Haemophilus ducreyi, which is transmitted by sexual contact. The infection has symptom painful and soft ulcers.
http://purl.obolibrary.org/obo/DOID_13791	myringitis bullosa hemorrhagica	http://purl.obolibrary.org/obo/DOID_5782	tympanic membrane disease		A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection.
http://purl.obolibrary.org/obo/DOID_13799	female breast central part cancer	http://purl.obolibrary.org/obo/DOID_0050671	female breast cancer		A female breast cancer that is located_in the center of the breast.
http://purl.obolibrary.org/obo/DOID_138	vaginal squamous tumor	http://purl.obolibrary.org/obo/DOID_119	vaginal cancer		A vaginal cancer that has_material_basis_in squamous tissue.
http://purl.obolibrary.org/obo/DOID_1380	endometrial cancer	http://purl.obolibrary.org/obo/DOID_363	uterine cancer		A uterine cancer that is located_in tissues lining the uterus.
http://purl.obolibrary.org/obo/DOID_13800	inclusion conjunctivitis	http://purl.obolibrary.org/obo/DOID_4251	conjunctival disease		A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus.
http://purl.obolibrary.org/obo/DOID_13801	pharyngoconjunctival fever	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results in infection located in pharynx or located in conjunctiva, has_material_basis_in Human adenovirus 3 or 7, serotypes of Mastadenovirus blackbeardi, which are transmitted by droplet spread of respiratory secretions or transmitted by fomites. The infection has symptom fever, has symptom lymphadenopathy of the neck, and has symptom headache.
http://purl.obolibrary.org/obo/DOID_1381	Fox-Fordyce disease	http://purl.obolibrary.org/obo/DOID_1383	sweat gland disease		A sweat gland disease that is characterized by dilatation of the follicular infundibulum with hyperkeratosis, acanthosis, and spongiosis with perifollicular inflammation leading to hair loss and has_symptom flesh colored papules with hair loss and pruritis, especially of the axilla.
http://purl.obolibrary.org/obo/DOID_13810	familial hypercholesterolemia	http://purl.obolibrary.org/obo/DOID_1168	familial hyperlipidemia		A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.
http://purl.obolibrary.org/obo/DOID_13811	chronic subinvolution of uterus	http://purl.obolibrary.org/obo/DOID_345	uterine disease		A uterine disease that is characterized by the inability of the uterus to return to its pre-gestational size after pregnancy.
http://purl.obolibrary.org/obo/DOID_13812	adhesions of uterus	http://purl.obolibrary.org/obo/DOID_345	uterine disease		A uterine disease that is characterized by the presence of scar tissue which attaches the uterus to another structure.
http://purl.obolibrary.org/obo/DOID_13814	hypoglossal nerve disease	http://purl.obolibrary.org/obo/DOID_3418	glossopharyngeal nerve disease		A glossopharyngeal nerve disease that is located_in the hypoglossal nerve (twelfth cranial nerve).
http://purl.obolibrary.org/obo/DOID_13819	lymphogranuloma venereum	http://purl.obolibrary.org/obo/DOID_9113	granuloma inguinale		A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis.
http://purl.obolibrary.org/obo/DOID_1382	miliaria	http://purl.obolibrary.org/obo/DOID_1383	sweat gland disease		A sweat gland disease that is characterized by blocked eccrine sweat glands and ducts.
http://purl.obolibrary.org/obo/DOID_13822	tetanic cataract	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract resulting from hypocalcemia.
http://purl.obolibrary.org/obo/DOID_1383	sweat gland disease	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease located_in the sweat glands.
http://purl.obolibrary.org/obo/DOID_1386	abetalipoproteinemia	http://purl.obolibrary.org/obo/DOID_1387	hypolipoproteinemia		A hypolipoproteinemia that is characterized by an inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS.
http://purl.obolibrary.org/obo/DOID_13861	scleroperikeratitis	http://purl.obolibrary.org/obo/DOID_13452	scleritis		A scleritis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Scleroperikeratitis may progress to sclerosing keratitis, which occurs when the inflammation leads to opacification of the anterior corneal stroma and subsequent vision loss. Scleroperikeratitis is caused by severe anterior scleritis that causes inflammation and injury to the adjacent corneal layer. Anterior scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection.
http://purl.obolibrary.org/obo/DOID_13862	acute closed-angle glaucoma	http://purl.obolibrary.org/obo/DOID_1405	primary angle-closure glaucoma		A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening further optic nerve damage and visual field loss. Acute closed-angle glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights. Acute closed-angle glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow.
http://purl.obolibrary.org/obo/DOID_13867	focal labyrinthitis	http://purl.obolibrary.org/obo/DOID_1468	labyrinthitis		A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma.
http://purl.obolibrary.org/obo/DOID_1387	hypolipoproteinemia	http://purl.obolibrary.org/obo/DOID_3146	lipid metabolism disorder		A lipid metabolism disorder that is characterized by unusually low levels of fats in the blood.
http://purl.obolibrary.org/obo/DOID_1388	Tangier disease	http://purl.obolibrary.org/obo/DOID_1387	hypolipoproteinemia		A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31.
http://purl.obolibrary.org/obo/DOID_1389	polyneuropathy	http://purl.obolibrary.org/obo/DOID_574	peripheral nervous system disease		A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain.
http://purl.obolibrary.org/obo/DOID_13891	bird fancier's lung	http://purl.obolibrary.org/obo/DOID_841	extrinsic allergic alveolitis		An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen.
http://purl.obolibrary.org/obo/DOID_1390	hypobetalipoproteinemia	http://purl.obolibrary.org/obo/DOID_1387	hypolipoproteinemia		A hypolipoproteinemia characterized by permanently low levels of apolipoprotein B and LDL cholesterol resulting from an impaired ability to absorb and transport fats.
http://purl.obolibrary.org/obo/DOID_13902	white piedra	http://purl.obolibrary.org/obo/DOID_0050133	superficial mycosis		A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Trichosporon beigelii. Infected hairs develop soft greyish-white nodules along the shaft.
http://purl.obolibrary.org/obo/DOID_13911	achromatopsia	http://purl.obolibrary.org/obo/DOID_13399	color blindness		A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance.
http://purl.obolibrary.org/obo/DOID_13918	somatization disorder	http://purl.obolibrary.org/obo/DOID_4737	somatoform disorder		A somatoform disorder that involves persistently complaints of varied physical symptoms that have no identifiable physical origin.
http://purl.obolibrary.org/obo/DOID_13922	eosinophilic esophagitis	http://purl.obolibrary.org/obo/DOID_11963	esophagitis		An esophagitis characterized by inflammation involving eosinophils located_in esophagus.
http://purl.obolibrary.org/obo/DOID_1393	visual pathway disease	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye disease that affects the neural pathway from the optic nerve to the visual cortex, through which light is interpreted as an image.
http://purl.obolibrary.org/obo/DOID_13938	amenorrhea	http://purl.obolibrary.org/obo/DOID_229	female reproductive system disease		A female reproductive system disease that is characterized by the absence of menstruation.
http://purl.obolibrary.org/obo/DOID_1394	urinary schistosomiasis	http://purl.obolibrary.org/obo/DOID_365	bladder disease		A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer.
http://purl.obolibrary.org/obo/DOID_13941	benign paroxysmal positional vertigo	http://purl.obolibrary.org/obo/DOID_9847	peripheral vertigo		A peripheral vertigo that is characterized by episodic vertigo followed by gait imbalance and oscillopsia with profound bilateral vestibular loss despite normal hearing.
http://purl.obolibrary.org/obo/DOID_13945	CADASIL	http://purl.obolibrary.org/obo/DOID_10579	leukodystrophy		A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment.
http://purl.obolibrary.org/obo/DOID_1395	schistosomiasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria.
http://purl.obolibrary.org/obo/DOID_13951	uterine corpus epithelioid leiomyoma	http://purl.obolibrary.org/obo/DOID_13223	uterine fibroid		An uterine fibroid that is characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm as well as the absence of prominent nuclear atypia, tumor cell necrosis and mitotic figures.
http://purl.obolibrary.org/obo/DOID_13953	uterine corpus dissecting leiomyoma	http://purl.obolibrary.org/obo/DOID_13223	uterine fibroid		A uterine fibroid that is characterized by the presence of intramural tearing.
http://purl.obolibrary.org/obo/DOID_13955	uterus interstitial leiomyoma	http://purl.obolibrary.org/obo/DOID_13223	uterine fibroid		An uterine fibroid that is located within the myometrium.
http://purl.obolibrary.org/obo/DOID_13956	uterine corpus myxoid leiomyoma	http://purl.obolibrary.org/obo/DOID_13223	uterine fibroid		An uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels, but do no infiltrative and the absence of atypia or mitotic activity.
http://purl.obolibrary.org/obo/DOID_13957	uterine corpus lipoleiomyoma	http://purl.obolibrary.org/obo/DOID_13223	uterine fibroid		An uterine fibroid that is characterized by the presence of adipocytes.
http://purl.obolibrary.org/obo/DOID_13958	uterine corpus bizarre leiomyoma	http://purl.obolibrary.org/obo/DOID_127	leiomyoma		An uterine benign neoplasm that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures and has_material_basis_in smooth muscle cells.
http://purl.obolibrary.org/obo/DOID_13963	nuclear senile cataract	http://purl.obolibrary.org/obo/DOID_9669	senile cataract		A senile cataract that is characterized by opacification of the lens nucleus and caused by changes related to aging.
http://purl.obolibrary.org/obo/DOID_13964	Morgagni cataract	http://purl.obolibrary.org/obo/DOID_9669	senile cataract		A senile cataract that is characterized by dense white opacification of the lens and milky fluid in the lens capsule such that the dense nucleus of the lens sinks in the surrounding fluid. It is the late stage of senile cataracts and is caused by a multifactorial etiology related to aging.
http://purl.obolibrary.org/obo/DOID_13972	female breast lower-outer quadrant cancer	http://purl.obolibrary.org/obo/DOID_0050671	female breast cancer		A female breast cancer that is located_in the lower-outer qudrant of the breast.
http://purl.obolibrary.org/obo/DOID_1398	parasitic infectious disease	http://purl.obolibrary.org/obo/DOID_0050117	disease by infectious agent		A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host.
http://purl.obolibrary.org/obo/DOID_13994	cleidocranial dysplasia	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull.
http://purl.obolibrary.org/obo/DOID_1400	lacrimal apparatus disease	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye disease that affects the lacrimal apparatus (the lacrimal gland and its related structures) which moisten and drain the eye.
http://purl.obolibrary.org/obo/DOID_14004	thoracic aortic aneurysm	http://purl.obolibrary.org/obo/DOID_3627	aortic aneurysm		An aortic aneurysm that is located_in the thoracic aorta.
http://purl.obolibrary.org/obo/DOID_14019	Brucella canis brucellosis	http://purl.obolibrary.org/obo/DOID_11077	brucellosis		A brucellosis involving an infection caused by Brucella canis in dogs and humans. The disease has_symptom fever, has_symptom sweats, has_symptom weakness, has_symptom weight loss, has_symptom headache, has_symptom lymphadenopathy and has_symptom splenomegaly.
http://purl.obolibrary.org/obo/DOID_14021	Tietze's syndrome	http://purl.obolibrary.org/obo/DOID_1222	cartilage disease		A cartilage disease that is characterized by localized tenderness and non-suppurative swelling, typically associated with the 2nd or 3rd costal cartilages unilaterally caused by inflammation of one or more of the costal cartilages and that has symptom anterior chest pain.
http://purl.obolibrary.org/obo/DOID_14026	folic acid deficiency anemia	http://purl.obolibrary.org/obo/DOID_5113	nutritional deficiency disease		A nutritional deficiency disease that is characterized by a decrease in red blood cells due to lack of folate, has_material_basis_in insufficient folic acid in diet, hemolytic anemia, alcoholism, and/or certain medicines.
http://purl.obolibrary.org/obo/DOID_14037	aorta atresia	http://purl.obolibrary.org/obo/DOID_520	aortic disease		An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta.
http://purl.obolibrary.org/obo/DOID_14039	POEMS syndrome	http://purl.obolibrary.org/obo/DOID_620	blood protein disease		A blood protein disease that is characterized by polyneuropathy, oranomegaly, endocrinopathy, monoclonal gammopathy, and skin changes, especially hyperpigmentation.
http://purl.obolibrary.org/obo/DOID_14040	autoimmune polyendocrine syndrome	http://purl.obolibrary.org/obo/DOID_0060005	autoimmune disease of endocrine system		An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.
http://purl.obolibrary.org/obo/DOID_14042	bipolar I disorder	http://purl.obolibrary.org/obo/DOID_3312	bipolar disorder		A bipolar disorder that is characterized by at least one manic or mixed episode.
http://purl.obolibrary.org/obo/DOID_14049	phaeohyphomycosis	http://purl.obolibrary.org/obo/DOID_0050292	primary systemic mycosis		A primary systemic mycosis located_in subcutaneous tissues, located_in brain, located_in sinuses, located_in lungs, or located_in peritoneal cavity, has_material_basis_in Exophiala dermatitidis, has_material_basis_in Phialophora, has_material_basis_in Curvularia hawaiiensis, has_material_basis_in Exserohilum, has_material_basis_in Cladophialophora bantiana, has_material_basis_in Phaeoannellomyces, has_material_basis_in Aureobasidium, has_material_basis_in Cladosporium cladosporoides, has_material_basis_in Alternaria or has_material_basis_in Rhinocladiella mackenziei and results_in_formation_of subcutaneous abscesses arising at the site of minor trauma, and occur in both immunosuppressed and immunocompetent individuals.
http://purl.obolibrary.org/obo/DOID_1405	primary angle-closure glaucoma	http://purl.obolibrary.org/obo/DOID_13550	angle-closure glaucoma		An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component.
http://purl.obolibrary.org/obo/DOID_14059	paraurethral gland cancer	http://purl.obolibrary.org/obo/DOID_120	female reproductive organ cancer		A female reproductive organ cancer that is located_in the paraurethral glands.
http://purl.obolibrary.org/obo/DOID_14067	Plasmodium falciparum malaria	http://purl.obolibrary.org/obo/DOID_12365	malaria		A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever.
http://purl.obolibrary.org/obo/DOID_14068	blackwater fever	http://purl.obolibrary.org/obo/DOID_12365	malaria		A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax.
http://purl.obolibrary.org/obo/DOID_14069	cerebral malaria	http://purl.obolibrary.org/obo/DOID_12365	malaria		A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species.
http://purl.obolibrary.org/obo/DOID_14080	glucocorticoid-remediable aldosteronism	http://purl.obolibrary.org/obo/DOID_446	primary hyperaldosteronism		A primary hyperaldosteronism characterized by variably expressed and severe hypertension, hyperaldosteronism and abnormal adrenal steroid production which improve with exogenous glucocorticoid administration that has_material_basis_in a chimeric gene formed of the CYP11B2 and CYP11B1 genes on chromosome 8q24.3.
http://purl.obolibrary.org/obo/DOID_14081	toxic labyrinthitis	http://purl.obolibrary.org/obo/DOID_1468	labyrinthitis		A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic.
http://purl.obolibrary.org/obo/DOID_14087	epicondylitis	http://purl.obolibrary.org/obo/DOID_3342	bone inflammation disease		A bone inflammation disease that results_in inflammation located_in epicondyle.
http://purl.obolibrary.org/obo/DOID_14092	renal artery atheroma	http://purl.obolibrary.org/obo/DOID_2388	renal artery disease		An atherosclerosis of the renal artery.
http://purl.obolibrary.org/obo/DOID_14095	boutonneuse fever	http://purl.obolibrary.org/obo/DOID_11104	spotted fever		A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities.
http://purl.obolibrary.org/obo/DOID_14110	anus cancer	http://purl.obolibrary.org/obo/DOID_5672	large intestine cancer		A large intestine cancer that is located_in the anus.
http://purl.obolibrary.org/obo/DOID_14115	toxic shock syndrome	http://purl.obolibrary.org/obo/DOID_0050339	commensal bacterial infectious disease		A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.
http://purl.obolibrary.org/obo/DOID_14118	familial lipoprotein lipase deficiency	http://purl.obolibrary.org/obo/DOID_0111417	familial chylomicronemia syndrome		A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides.
http://purl.obolibrary.org/obo/DOID_1412	bacteriuria	http://purl.obolibrary.org/obo/DOID_18	urinary system disease		A urinary system disease which consists of the presence of bacteria in urine.
http://purl.obolibrary.org/obo/DOID_14130	lateral cystocele	http://purl.obolibrary.org/obo/DOID_1284	prolapse of female genital organ		A prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the anterolateral vaginal walls.
http://purl.obolibrary.org/obo/DOID_14131	midline cystocele	http://purl.obolibrary.org/obo/DOID_1284	prolapse of female genital organ		A prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the midline anterior vaginal wall.
http://purl.obolibrary.org/obo/DOID_14133	Masters-Allen syndrome	http://purl.obolibrary.org/obo/DOID_229	female reproductive system disease		A female reproductive system disease that is characterized by an excessively mobile uterus secondary to lacerations of the broad and cardinal ligaments, specific tenderness with movement of the cervix and previous untoward obstetrics events, such as premature maternal voluntary efforts, precipate delivery, and forceps delivery.
http://purl.obolibrary.org/obo/DOID_1414	ovarian dysfunction	http://purl.obolibrary.org/obo/DOID_1100	ovarian disease		An ovarian disease that is characterized by irregular or absent ovulation.
http://purl.obolibrary.org/obo/DOID_14146	ureterolithiasis	http://purl.obolibrary.org/obo/DOID_1426	ureteral disease		An ureteral disease this is characterized by the formation of stoney concentrations in the ureter.
http://purl.obolibrary.org/obo/DOID_14150	spinal cord lymphoma	http://purl.obolibrary.org/obo/DOID_5772	central nervous system hematologic cancer		A spinal cancer that is located_in the spinal cord and derives_from lymphocytes.
http://purl.obolibrary.org/obo/DOID_14159	obstructive hydrocephalus	http://purl.obolibrary.org/obo/DOID_10908	hydrocephalus		A hydrocephalus characterized by cerebrospinal fluid obstruction in the ventricular system.
http://purl.obolibrary.org/obo/DOID_1417	choroid disease	http://purl.obolibrary.org/obo/DOID_3480	uveal disease		An uveal disease that is located_in the choroid.
http://purl.obolibrary.org/obo/DOID_14176	selective IgG deficiency disease	http://purl.obolibrary.org/obo/DOID_11702	dysgammaglobulinemia		A dysgammaglobulinemia that is characterized by isolated deficiency of an IgG subclass, normal total IgG levels, and subsequent increased susceptibility to recurrent infections, atopic disease, and autoimmune conditions.
http://purl.obolibrary.org/obo/DOID_14179	X-linked agammaglobulinemia	http://purl.obolibrary.org/obo/DOID_2583	agammaglobulinemia		An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement.
http://purl.obolibrary.org/obo/DOID_14188	frozen shoulder	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A connective tissue disease characterized by restriction of both active and passive range of motion located_in the scapulohumeral joint and has_symptom pain and has_symptom restricted range of motion.
http://purl.obolibrary.org/obo/DOID_14213	hypophosphatasia	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in the ALPL gene on chromosome 1p36.12.
http://purl.obolibrary.org/obo/DOID_14218	dihydropyrimidine dehydrogenase deficiency	http://purl.obolibrary.org/obo/DOID_653	purine-pyrimidine metabolic disorder		A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine.
http://purl.obolibrary.org/obo/DOID_14219	renal tubular acidosis	http://purl.obolibrary.org/obo/DOID_447	renal tubular transport disease		A renal tubular transport disease characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis.
http://purl.obolibrary.org/obo/DOID_14221	abdominal obesity-metabolic syndrome 1	http://purl.obolibrary.org/obo/DOID_0060611	abdominal obesity-metabolic syndrome		An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events.
http://purl.obolibrary.org/obo/DOID_14223	ochronosis	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A connective tissue disease characterized by bluish-brown discoloration of connective tissues that develops from the deposition of homogentisic acid and subsequent oxidation and polymerization reactions.
http://purl.obolibrary.org/obo/DOID_14225	acute frontal sinusitis	http://purl.obolibrary.org/obo/DOID_10791	frontal sinusitis		A frontal sinusitis which lasts for less than 4 weeks.
http://purl.obolibrary.org/obo/DOID_14227	azoospermia	http://purl.obolibrary.org/obo/DOID_12336	male infertility		A male infertility disease characterized by the absence of any measurable level of sperm in semen.
http://purl.obolibrary.org/obo/DOID_14228	oligospermia	http://purl.obolibrary.org/obo/DOID_12336	male infertility		A male fertility issue defined as a low sperm concentration in the ejaculate.
http://purl.obolibrary.org/obo/DOID_14230	scleromalacia perforans	http://purl.obolibrary.org/obo/DOID_11343	scleral disease		A scleral disease that is characterized by a painless severe necrotizing scleritis where the sclera is white, avascular, and thin. The choroid can become exposed leading to infarction and necrosis of related areas; the sclera can also thin such that the dark uvea protrudes through the front of the eye, forming a staphyloma which has_symptom loss of vision and appearance of a dark bulge. Scleromalacia perforans is usually caused by a rare complication of autoimmune disease like rheumatoid arthritis.
http://purl.obolibrary.org/obo/DOID_14239	gastrointestinal tularemia	http://purl.obolibrary.org/obo/DOID_77	gastrointestinal system disease		A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting.
http://purl.obolibrary.org/obo/DOID_14243	chronic perichondritis of pinna	http://purl.obolibrary.org/obo/DOID_222	perichondritis of auricle		A perichondritis of auricle which is persistent and long-lasting.
http://purl.obolibrary.org/obo/DOID_14247	chronic purulent otitis media	http://purl.obolibrary.org/obo/DOID_11506	suppurative otitis media		A suppurative otitis media which is persistent and long-lasting.
http://purl.obolibrary.org/obo/DOID_14248	chronic atticoantral disease	http://purl.obolibrary.org/obo/DOID_14247	chronic purulent otitis media		A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection.
http://purl.obolibrary.org/obo/DOID_14250	Down syndrome	http://purl.obolibrary.org/obo/DOID_0060429	chromosomal duplication syndrome		A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.
http://purl.obolibrary.org/obo/DOID_14256	adult-onset Still's disease	http://purl.obolibrary.org/obo/DOID_7148	rheumatoid arthritis		A rheumatoid arthritis that is characterized by high fevers, rash, sore throat and joint pain.
http://purl.obolibrary.org/obo/DOID_1426	ureteral disease	http://purl.obolibrary.org/obo/DOID_18	urinary system disease		A urinary system disease that is located_in the ureter.
http://purl.obolibrary.org/obo/DOID_14261	fragile X syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function.
http://purl.obolibrary.org/obo/DOID_14262	oral candidiasis	http://purl.obolibrary.org/obo/DOID_403	mouth disease		A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes.
http://purl.obolibrary.org/obo/DOID_14264	benign neonatal seizures	http://purl.obolibrary.org/obo/DOID_0050702	neonatal period electroclinical syndrome		A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion.
http://purl.obolibrary.org/obo/DOID_14265	pulmonary valve insufficiency	http://purl.obolibrary.org/obo/DOID_5749	pulmonary valve disease		A pulmonary valve disease that occurs when the pulmonary valve is not strong enough to prevent backflow into the right ventricle. If it is secondary to pulmonary hypertension it is referred to as a Graham Steell murmur.
http://purl.obolibrary.org/obo/DOID_14275	atrophic vulva	http://purl.obolibrary.org/obo/DOID_2059	vulvar disease		A vulvar disease that is characterized by the presence of atrophy and associated with decreased estrogenization.
http://purl.obolibrary.org/obo/DOID_1428	endocrine pancreas disease	http://purl.obolibrary.org/obo/DOID_26	pancreas disease		A pancreas disease that is located_in the endocrine component of the pancreas, consisting of islet cells (islets of Langerhans) that create and release important hormones directly into the bloodstream.
http://purl.obolibrary.org/obo/DOID_14287	brawny scleritis	http://purl.obolibrary.org/obo/DOID_13794	anterior scleritis		An anterior scleritis that is characterized by painful inflammation and tender nodule formation of the anterior sclera and has_symptom pain, red eyes, photophobia, tearing, blurry vision, and appearance of eye surface irregularity. Nodular scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection.
http://purl.obolibrary.org/obo/DOID_14289	Ebstein anomaly	http://purl.obolibrary.org/obo/DOID_0050826	tricuspid valve disease		A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart.
http://purl.obolibrary.org/obo/DOID_14291	Noonan syndrome with multiple lentigines	http://purl.obolibrary.org/obo/DOID_0080690	RASopathy		A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature.
http://purl.obolibrary.org/obo/DOID_14292	vulvar dystrophy	http://purl.obolibrary.org/obo/DOID_2059	vulvar disease		A vulvar disease that is characterized as irregular patchy areas of thickened skin and severe itching.
http://purl.obolibrary.org/obo/DOID_14305	tuberculous empyema	http://purl.obolibrary.org/obo/DOID_3798	pleural empyema		A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula.
http://purl.obolibrary.org/obo/DOID_14319	pleuropneumonia	http://purl.obolibrary.org/obo/DOID_552	pneumonia		A pneumonia accompanied by inflammation of the pleura and accumulation of pus in the pleural space caused by bacteria.
http://purl.obolibrary.org/obo/DOID_1432	blindness	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye disease characterized by a lack or loss of vision.
http://purl.obolibrary.org/obo/DOID_14320	generalized anxiety disorder	http://purl.obolibrary.org/obo/DOID_2030	anxiety disorder		An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation.
http://purl.obolibrary.org/obo/DOID_14323	Marfan syndrome	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.
http://purl.obolibrary.org/obo/DOID_14324	Plasmodium malariae malaria	http://purl.obolibrary.org/obo/DOID_12365	malaria		A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals.
http://purl.obolibrary.org/obo/DOID_14325	mixed malaria	http://purl.obolibrary.org/obo/DOID_12365	malaria		A malaria that involves infection with more than one species of Plasmodium at the same time.
http://purl.obolibrary.org/obo/DOID_14330	Parkinson's disease	http://purl.obolibrary.org/obo/DOID_0050890	synucleinopathy		A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.
http://purl.obolibrary.org/obo/DOID_14336	estrogen excess	http://purl.obolibrary.org/obo/DOID_1414	ovarian dysfunction		An ovarian dysfunction that is characterized by a higher than normal ratio of estrogen.
http://purl.obolibrary.org/obo/DOID_14365	systemic primary carnitine deficiency disease	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.
http://purl.obolibrary.org/obo/DOID_14374	norwegian scabies	http://purl.obolibrary.org/obo/DOID_8295	scabies		A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching.
http://purl.obolibrary.org/obo/DOID_14384	parietal lobe neoplasm	http://purl.obolibrary.org/obo/DOID_368	cerebrum cancer		A cerebrum cancer that is located_in the parietal lobe.
http://purl.obolibrary.org/obo/DOID_14392	thrombophlebitis migrans	http://purl.obolibrary.org/obo/DOID_3875	thrombophlebitis		A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations.
http://purl.obolibrary.org/obo/DOID_14397	protozoal dysentery	http://purl.obolibrary.org/obo/DOID_12384	dysentery		A dysentery that involves protozoan infection.
http://purl.obolibrary.org/obo/DOID_1440	Machado-Joseph disease	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene.
http://purl.obolibrary.org/obo/DOID_14400	capillary leak syndrome	http://purl.obolibrary.org/obo/DOID_1271	capillary disease		A capillary disease characterized by hypotension, hypoalbuminemia, and hemoconcentration resulting from fluid and protein leakage out of capillaries into surrounding tissues.
http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia	http://purl.obolibrary.org/obo/DOID_0050753	cerebellar ataxia		A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance.
http://purl.obolibrary.org/obo/DOID_14415	Legg-Calve-Perthes disease	http://purl.obolibrary.org/obo/DOID_8125	osteochondrosis		An osteochondrosis that results_in death and fracture located_in hip joint.
http://purl.obolibrary.org/obo/DOID_14418	dracunculiasis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection.
http://purl.obolibrary.org/obo/DOID_14422	dipetalonemiasis	http://purl.obolibrary.org/obo/DOID_5614	eye disease		A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis.
http://purl.obolibrary.org/obo/DOID_1443	cerebral degeneration	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease that is characterized by loss of structure or function of neurons, including death of neurons and loss of brain tissue.
http://purl.obolibrary.org/obo/DOID_14435	chronic tubotympanic suppurative otitis media	http://purl.obolibrary.org/obo/DOID_11506	suppurative otitis media		A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections.
http://purl.obolibrary.org/obo/DOID_14443	cholinergic urticaria	http://purl.obolibrary.org/obo/DOID_0060220	physical urticaria		A physical urticaria induced by sweating.
http://purl.obolibrary.org/obo/DOID_14444	sclerosing keratitis	http://purl.obolibrary.org/obo/DOID_9858	deep keratitis		A deep keratitis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea with opacification of the corneal stroma and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Sclerosing keratitis is caused by severe anterior scleritis that causes inflammation and injury to the adjacent corneal layer. Anterior scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection.
http://purl.obolibrary.org/obo/DOID_14445	chronic closed-angle glaucoma	http://purl.obolibrary.org/obo/DOID_1405	primary angle-closure glaucoma		A primary angle-closure glaucoma characterized by chronic and progressive narrowing of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Chronic closed-angle glaucoma has_symptom progressive loss of peripheral vision, decreased vision, and occasionally headaches. Chronic closed-angle glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component.
http://purl.obolibrary.org/obo/DOID_14447	gonadal dysgenesis	http://purl.obolibrary.org/obo/DOID_1923	disorder of sexual development		A disorder of sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo.
http://purl.obolibrary.org/obo/DOID_14448	46,XY complete gonadal dysgenesis	http://purl.obolibrary.org/obo/DOID_14447	gonadal dysgenesis		A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo.
http://purl.obolibrary.org/obo/DOID_14449	mixed gonadal dysgenesis	http://purl.obolibrary.org/obo/DOID_14447	gonadal dysgenesis		A gonadal dysgenesis that is characterized by progressive loss of primordial cells on the developing glands of an embryo, leading to extremely hypoplastic and dysfuctioning gonads resulting in one differentiated gonad and either a streak gonad or streak testis.
http://purl.obolibrary.org/obo/DOID_14450	46 XX gonadal dysgenesis	http://purl.obolibrary.org/obo/DOID_14447	gonadal dysgenesis		A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female.
http://purl.obolibrary.org/obo/DOID_14453	farmer's lung	http://purl.obolibrary.org/obo/DOID_841	extrinsic allergic alveolitis		An extrinsic allergic alveolitis which is induced by the inhalation of spores (Aspergillus sp and thermophilic actinomycetes) in dust from moldy hay or straw. It is characterized by sudden onset, fever, cough, expectoration, and breathlessness.
http://purl.obolibrary.org/obo/DOID_14456	Brucella melitensis brucellosis	http://purl.obolibrary.org/obo/DOID_11077	brucellosis		A brucellosis that involves an infection caused by Brucella melitensis in cattle, goats, sheep and humans. The disease has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom limb pain and has_symptom back pain.
http://purl.obolibrary.org/obo/DOID_14457	Brucella abortus brucellosis	http://purl.obolibrary.org/obo/DOID_11077	brucellosis		A brucellosis that involves an infection caused by Brucella abortus in cattle and humans. The disease has_symptom fever, has_symptom chills, has_symptom sweats, has_symptom weight loss, has_symptom malaise, has_symptom headaches, has_symptom myalgia, and has_symptom arthralgia.
http://purl.obolibrary.org/obo/DOID_14464	neuroleptic malignant syndrome	http://purl.obolibrary.org/obo/DOID_863	nervous system disease		A nervous system disease that is characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness and is associated with administration of antipsychotic and other central dopaminergic blockers.
http://purl.obolibrary.org/obo/DOID_14472	hantavirus pulmonary syndrome	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results in infection located in lung, has_material_basis_in Orthohantavirus sinnombreense, transmitted by deer mouse (Myodes glareolus), has_material_basis_in Orthohantavirus nigrorivense, transmitted by cotton rat (Sigmodon hispidus), has_material_basis_in Orthohantavirus bayoui, transmitted by marsh rice rat (Oryzomys palustris), has_material_basis_in Orthohantavirus negraense, transmitted by small vesper mouse (Calomys laucha), or has_material_basis_in Orthohantavirus andesense, transmitted by rice rat (Oligoryzomys longicaudatus). The infection has _symptom fever, muscle pain, headache, cough, vomiting, and chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications.
http://purl.obolibrary.org/obo/DOID_14482	pemphigoid gestationis	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A pemphigoid that is characterized by erythematous papules, vesicles, and plaques around the trunk and extremities that develop during pregnancy, particularly during the second and third trimesters, has_symptom pruritis, and has_material_basis_in autoantibodies to the basement membrane, which triggers a complement cascade and attracts eosinophils to the subepidermis.
http://purl.obolibrary.org/obo/DOID_14484	sporotrichosis	http://purl.obolibrary.org/obo/DOID_0050292	primary systemic mycosis		A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation.
http://purl.obolibrary.org/obo/DOID_14497	Wolman disease	http://purl.obolibrary.org/obo/DOID_0080217	lysosomal acid lipase deficiency		A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life.
http://purl.obolibrary.org/obo/DOID_14499	Fabry disease	http://purl.obolibrary.org/obo/DOID_1927	sphingolipidosis		A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.
http://purl.obolibrary.org/obo/DOID_14501	Sjogren-Larsson syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11.
http://purl.obolibrary.org/obo/DOID_14502	cholesterol ester storage disease	http://purl.obolibrary.org/obo/DOID_0080217	lysosomal acid lipase deficiency		A lysosomal acid lipase deficiency characterized by onset in childhood or later of progressive accumulation of cholesteryl esters and triglycerides primarily in the liver and spleen.
http://purl.obolibrary.org/obo/DOID_14504	Niemann-Pick disease	http://purl.obolibrary.org/obo/DOID_1927	sphingolipidosis		A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.
http://purl.obolibrary.org/obo/DOID_14512	candidal paronychia	http://purl.obolibrary.org/obo/DOID_4123	nail disease		A candidiasis that results_in fungal infection of the outer-most layer located_in nail, has_material_basis_in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury.
http://purl.obolibrary.org/obo/DOID_14515	WAGR syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes.
http://purl.obolibrary.org/obo/DOID_14523	Argyll Robertson pupil	http://purl.obolibrary.org/obo/DOID_11518	abnormal pupillary function		An abnormal pupillary function characterized by a small pupil, the absence of a pupillary light reflex and the retention of a normal pupillary near response.
http://purl.obolibrary.org/obo/DOID_14525	Reye syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use.
http://purl.obolibrary.org/obo/DOID_14544	rete testis adenocarcinoma	http://purl.obolibrary.org/obo/DOID_5639	rete testis neoplasm		A rete testis neoplasm that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_14545	seminal vesicle adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3856	male reproductive organ cancer		A male reproductive organ cancer that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_14547	sphenoid sinus squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A squamous cell carcinoma that is located_in the sphenoid sinus.
http://purl.obolibrary.org/obo/DOID_1455	geographic tongue	http://purl.obolibrary.org/obo/DOID_1453	atrophic glossitis		An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface.
http://purl.obolibrary.org/obo/DOID_14557	primary pulmonary hypertension	http://purl.obolibrary.org/obo/DOID_12326	chronic pulmonary heart disease		A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling.
http://purl.obolibrary.org/obo/DOID_14566	disease of cellular proliferation	http://purl.obolibrary.org/obo/DOID_4	disease		A disease that is characterized by abnormally rapid cell division.
http://purl.obolibrary.org/obo/DOID_1459	hypothyroidism	http://purl.obolibrary.org/obo/DOID_50	thyroid gland disease		A thyroid gland disease which involves an underproduction of thyroid hormone.
http://purl.obolibrary.org/obo/DOID_1461	cholesterol embolism	http://purl.obolibrary.org/obo/DOID_178	vascular disease		A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream.
http://purl.obolibrary.org/obo/DOID_14669	acrodysostosis	http://purl.obolibrary.org/obo/DOID_1934	dysostosis		A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency.
http://purl.obolibrary.org/obo/DOID_1467	serous labyrinthitis	http://purl.obolibrary.org/obo/DOID_1468	labyrinthitis		A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections.
http://purl.obolibrary.org/obo/DOID_14670	hypertelorism, microtia, facial clefting syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by the combination of hypertelorism, cleft lip and palate and microtia.
http://purl.obolibrary.org/obo/DOID_14671	multiple intestinal atresia	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		An intestinal disease characterized by the presence of numerous atresic segments in the small and large intestines that has_material_basis_in homozygous or compound heterozygous mutation in the TTC7A gene on chromosome 2p21.
http://purl.obolibrary.org/obo/DOID_14679	VACTERL association	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.
http://purl.obolibrary.org/obo/DOID_1468	labyrinthitis	http://purl.obolibrary.org/obo/DOID_3930	otitis interna		An otitis interna which involves inflammation of the labyrinths.
http://purl.obolibrary.org/obo/DOID_14681	Silver-Russell syndrome	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations.
http://purl.obolibrary.org/obo/DOID_14686	Axenfeld-Rieger syndrome	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye disease characterized by anterior segment ocular dysgenesis in addition to systemic abnormalities such as dental, cardiac, craniofacial, and abdominal wall defects.
http://purl.obolibrary.org/obo/DOID_14687	diastrophic dysplasia	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism.
http://purl.obolibrary.org/obo/DOID_14693	Clouston syndrome	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An ectodermal dysplasia that is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected and that has_material_basis_in heterozygous mutation in the GJB6 gene, which encodes connexin-30, on chromosome 13q12.
http://purl.obolibrary.org/obo/DOID_14694	Johanson-Blizzard syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner.
http://purl.obolibrary.org/obo/DOID_14695	galactokinase deficiency	http://purl.obolibrary.org/obo/DOID_9870	galactosemia		A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.
http://purl.obolibrary.org/obo/DOID_14699	thrombocytopenia-absent radius syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A chromosomal deletion syndrome that is characterized by absence of the radius bone and platelet deficiency and bilateral absence of the radii with the presence of both thumbs and generally transient thrombocytopenia (less than 50 platelets/nL) and that has_material_basis_in compound heterozygosity for a rare null mutation involving the RBM8A gene on chromosome 1q12 on 1 allele and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms in RBM8A on the other.
http://purl.obolibrary.org/obo/DOID_1470	major depressive disorder	http://purl.obolibrary.org/obo/DOID_1596	depressive disorder		A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.
http://purl.obolibrary.org/obo/DOID_14701	propionic acidemia	http://purl.obolibrary.org/obo/DOID_0060159	organic acidemia		An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of amino acids and fats into sugar for energy.
http://purl.obolibrary.org/obo/DOID_14702	branchiootorenal syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities.
http://purl.obolibrary.org/obo/DOID_14705	Pfeiffer syndrome	http://purl.obolibrary.org/obo/DOID_12960	acrocephalosyndactylia		An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.
http://purl.obolibrary.org/obo/DOID_14711	FG syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern.
http://purl.obolibrary.org/obo/DOID_14717	centronuclear myopathy	http://purl.obolibrary.org/obo/DOID_422	congenital structural myopathy		A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery.
http://purl.obolibrary.org/obo/DOID_14720	Ehlers-Danlos syndrome classic type 1	http://purl.obolibrary.org/obo/DOID_13359	Ehlers-Danlos syndrome		An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_14723	beta-ketothiolase deficiency	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomiting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones.
http://purl.obolibrary.org/obo/DOID_14725	autosomal dominant microcephaly	http://purl.obolibrary.org/obo/DOID_10907	microcephaly		A microcephaly that has_material_basis_in heterozygous mutation in an autosomal gene.
http://purl.obolibrary.org/obo/DOID_14731	Weaver syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has_material_basis_in heterozygous mutation in the EZH2 gene on chromosome 7q36.
http://purl.obolibrary.org/obo/DOID_14735	hereditary angioedema	http://purl.obolibrary.org/obo/DOID_1558	angioedema		An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes.
http://purl.obolibrary.org/obo/DOID_14737	craniofrontonasal syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that has_material_basis_in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton.
http://purl.obolibrary.org/obo/DOID_1474	aggressive periodontitis	http://purl.obolibrary.org/obo/DOID_824	periodontitis		A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium.
http://purl.obolibrary.org/obo/DOID_14743	trichorhinophalangeal syndrome type I	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly).
http://purl.obolibrary.org/obo/DOID_14744	Partington syndrome	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria.
http://purl.obolibrary.org/obo/DOID_14748	Sotos syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life.
http://purl.obolibrary.org/obo/DOID_14749	methylmalonic acidemia	http://purl.obolibrary.org/obo/DOID_0060159	organic acidemia		An organic acidemia that involves an accumulation of methylmalonic acid in the blood.
http://purl.obolibrary.org/obo/DOID_1475	lymphangioma	http://purl.obolibrary.org/obo/DOID_60006	benign vascular tumor		A benign vascular tumor that is composed of dilated lymphatic channels.
http://purl.obolibrary.org/obo/DOID_14753	isovaleric acidemia	http://purl.obolibrary.org/obo/DOID_0060159	organic acidemia		An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine.
http://purl.obolibrary.org/obo/DOID_14755	argininosuccinic aciduria	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine.
http://purl.obolibrary.org/obo/DOID_14756	vascular type Ehlers-Danlos syndrome	http://purl.obolibrary.org/obo/DOID_13359	Ehlers-Danlos syndrome		An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits.
http://purl.obolibrary.org/obo/DOID_14757	Ehlers-Danlos syndrome hypermobility type	http://purl.obolibrary.org/obo/DOID_13359	Ehlers-Danlos syndrome		An Ehlers-Danlos syndrome that is characterized by joint hyperextensibility without skeletal deformity.
http://purl.obolibrary.org/obo/DOID_14759	autosomal recessive type IV Ehlers-Danlos syndrome	http://purl.obolibrary.org/obo/DOID_13359	Ehlers-Danlos syndrome		An Ehlers-Danlos syndrome that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits.
http://purl.obolibrary.org/obo/DOID_14761	Greig cephalopolysyndactyly syndrome	http://purl.obolibrary.org/obo/DOID_12960	acrocephalosyndactylia		An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face.
http://purl.obolibrary.org/obo/DOID_14762	calcaneonavicular coalition	http://purl.obolibrary.org/obo/DOID_11971	synostosis		A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet.
http://purl.obolibrary.org/obo/DOID_14764	Larsen syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities.
http://purl.obolibrary.org/obo/DOID_14766	renal agenesis	http://purl.obolibrary.org/obo/DOID_557	kidney disease		A renal disease that is characterized by the failure of one or both kidneys to develop.
http://purl.obolibrary.org/obo/DOID_14768	Saethre-Chotzen syndrome	http://purl.obolibrary.org/obo/DOID_12960	acrocephalosyndactylia		An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.
http://purl.obolibrary.org/obo/DOID_14773	cartilage-hair hypoplasia	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.3.
http://purl.obolibrary.org/obo/DOID_14775	brittle cornea syndrome 1	http://purl.obolibrary.org/obo/DOID_13359	Ehlers-Danlos syndrome		An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24.
http://purl.obolibrary.org/obo/DOID_14778	blepharophimosis, ptosis, and epicanthus inversus syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus with (type I) or without (premature ovarian failure) that has_material_basis_in heterozygous or rarely homozygous mutation in the FOXL2 gene on chromosome 3q22.3.
http://purl.obolibrary.org/obo/DOID_14780	KBG syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton.
http://purl.obolibrary.org/obo/DOID_14784	olivopontocerebellar atrophy	http://purl.obolibrary.org/obo/DOID_1289	neurodegenerative disease		A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives.
http://purl.obolibrary.org/obo/DOID_14789	spondyloepiphyseal dysplasia congenita	http://purl.obolibrary.org/obo/DOID_0112280	spondyloepiphyseal dysplasia		A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.
http://purl.obolibrary.org/obo/DOID_14791	Leber congenital amaurosis	http://purl.obolibrary.org/obo/DOID_5679	retinal disease		A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.
http://purl.obolibrary.org/obo/DOID_14793	hypohidrotic ectodermal dysplasia	http://purl.obolibrary.org/obo/DOID_2121	ectodermal dysplasia		An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth).
http://purl.obolibrary.org/obo/DOID_14796	Dubowitz syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.
http://purl.obolibrary.org/obo/DOID_14798	Blount's disease	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally.
http://purl.obolibrary.org/obo/DOID_1483	gingival disease	http://purl.obolibrary.org/obo/DOID_3388	periodontal disease		A periodontal disease that is located_in the gums.
http://purl.obolibrary.org/obo/DOID_1485	cystic fibrosis	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.
http://purl.obolibrary.org/obo/DOID_1495	cystic echinococcosis	http://purl.obolibrary.org/obo/DOID_936	brain disease		An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected.
http://purl.obolibrary.org/obo/DOID_1496	echinococcosis	http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease		A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys.
http://purl.obolibrary.org/obo/DOID_1498	cholera	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock.
http://purl.obolibrary.org/obo/DOID_15	reproductive system disease	http://purl.obolibrary.org/obo/DOID_7	disease of anatomical entity		A disease of anatomical entity that is located_in reproductive system organs.
http://purl.obolibrary.org/obo/DOID_150	disease of mental health	http://purl.obolibrary.org/obo/DOID_4	disease		A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture.
http://purl.obolibrary.org/obo/DOID_1508	candidiasis	http://purl.obolibrary.org/obo/DOID_2473	opportunistic mycosis		An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons.
http://purl.obolibrary.org/obo/DOID_1509	avoidant personality disorder	http://purl.obolibrary.org/obo/DOID_1510	personality disorder		A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction.
http://purl.obolibrary.org/obo/DOID_1510	personality disorder	http://purl.obolibrary.org/obo/DOID_150	disease of mental health		A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work.
http://purl.obolibrary.org/obo/DOID_1512	chronic gonorrhea of cervix	http://purl.obolibrary.org/obo/DOID_1513	chronic cervicitis		A chronic cervicitis that is caused by gonorrhea.
http://purl.obolibrary.org/obo/DOID_1513	chronic cervicitis	http://purl.obolibrary.org/obo/DOID_2568	cervicitis		A cervicitis that is present for weeks or more.
http://purl.obolibrary.org/obo/DOID_1517	cecal benign neoplasm	http://purl.obolibrary.org/obo/DOID_4610	intestinal benign neoplasm		An intestinal benign neoplasm that is located_in the cecum.
http://purl.obolibrary.org/obo/DOID_1518	cecal disease	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		An intestinal disease located_in the cecum.
http://purl.obolibrary.org/obo/DOID_1519	cecum carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
http://purl.obolibrary.org/obo/DOID_1520	colon carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
http://purl.obolibrary.org/obo/DOID_1521	cecum cancer	http://purl.obolibrary.org/obo/DOID_5672	large intestine cancer		A large intestine cancer that is located_in the cecum.
http://purl.obolibrary.org/obo/DOID_1526	panniculitis	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A skin disease that is characterized by inflammation of subcutaneous adipose tissue.
http://purl.obolibrary.org/obo/DOID_1532	pleural disease	http://purl.obolibrary.org/obo/DOID_0050161	lower respiratory tract disease		A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism.
http://purl.obolibrary.org/obo/DOID_154	mixed cell type cancer	http://purl.obolibrary.org/obo/DOID_0050687	cell type cancer		A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from two germinal layers of tissue.
http://purl.obolibrary.org/obo/DOID_1540	parathyroid carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		An endocrine gland cancer located_in the parathyroid glands located in the neck.
http://purl.obolibrary.org/obo/DOID_1542	head and neck carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A head and neck cancer that has_material_basis_in epithelial cells and is located in the upper aerodigestive tract, including the lip, oral cavity (mouth), nasal cavity, paranasal sinuses, pharynx, and larynx.
http://purl.obolibrary.org/obo/DOID_1554	vibratory urticaria	http://purl.obolibrary.org/obo/DOID_0060220	physical urticaria		A physical urticaria that is characterized by itching, reddish skin and swelling within minutes of local exposure to dermal vibration and that has_material_basis_in heterozygous mutation in the ADGRE2 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_1555	urticaria	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.
http://purl.obolibrary.org/obo/DOID_1556	arthus reaction	http://purl.obolibrary.org/obo/DOID_1557	hypersensitivity reaction type III disease		A hypersensitivity reaction type III disease that is characterized by local vasculitis, has_symptom pain, edema, hemorrhage, or necrosis, and has_material_basis_in deposition of antigen-antibody immune complexes in vascular or serosal walls.
http://purl.obolibrary.org/obo/DOID_1557	hypersensitivity reaction type III disease	http://purl.obolibrary.org/obo/DOID_0060056	hypersensitivity reaction disease		A hypersensitivity reaction disease that is characterized by the accumulation of antigen-antibody immune complexes, causing an inflammatory response and injury.
http://purl.obolibrary.org/obo/DOID_1558	angioedema	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease characterized by one or more areas of well-demarcated, non-pitting edema of deep subcutaneous tissues.
http://purl.obolibrary.org/obo/DOID_1561	cognitive disorder	http://purl.obolibrary.org/obo/DOID_150	disease of mental health		A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.
http://purl.obolibrary.org/obo/DOID_1562	chromoblastomycosis	http://purl.obolibrary.org/obo/DOID_0050135	subcutaneous mycosis		A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection.
http://purl.obolibrary.org/obo/DOID_1563	dermatomycosis	http://purl.obolibrary.org/obo/DOID_37	skin disease		A cutaneous mycosis that results in fungal infection located in skin or of its appendages, has_material_basis_in Ascomycota fungi other than the dermatophytes.
http://purl.obolibrary.org/obo/DOID_1564	fungal infectious disease	http://purl.obolibrary.org/obo/DOID_0050117	disease by infectious agent		A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body.
http://purl.obolibrary.org/obo/DOID_1572	normal pressure hydrocephalus	http://purl.obolibrary.org/obo/DOID_1573	communicating hydrocephalus		A communicating hydrocephalus characterized by normal cerebrospinal fluid pressure, gait instability, cognitive decline, and impaired bladder control. Onset is usually in late adulthood.
http://purl.obolibrary.org/obo/DOID_1573	communicating hydrocephalus	http://purl.obolibrary.org/obo/DOID_10908	hydrocephalus		A hydrocephalus characterized by cerebrospinal fluid flow without obstruction in the ventricular system.
http://purl.obolibrary.org/obo/DOID_1574	alcohol use disorder	http://purl.obolibrary.org/obo/DOID_302	substance abuse		A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.
http://purl.obolibrary.org/obo/DOID_1575	rheumatic disease	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A musculoskeletal system disease that involves inflammation or pain in the muscles, joints, or fibrous tissue.
http://purl.obolibrary.org/obo/DOID_1579	respiratory system disease	http://purl.obolibrary.org/obo/DOID_7	disease of anatomical entity		A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm.
http://purl.obolibrary.org/obo/DOID_1583	laryngeal tuberculosis	http://purl.obolibrary.org/obo/DOID_3437	laryngitis		A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia.
http://purl.obolibrary.org/obo/DOID_1584	acute chest syndrome	http://purl.obolibrary.org/obo/DOID_850	lung disease		A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph.
http://purl.obolibrary.org/obo/DOID_1586	rheumatic fever	http://purl.obolibrary.org/obo/DOID_104	bacterial infectious disease		A connective tissue disease that develops from an antecedent Group A Streptococcal pharyngeal infection and has_symptom carditis, has_symptom polyarthritis, has_symptom chorea, has_symptom erythema marginatum, has_symptom subcutaneous nodules, has_symptom arthralgia, has_symptom prolonged PR interval, and/or has_symptom fever.
http://purl.obolibrary.org/obo/DOID_1588	thrombocytopenia	http://purl.obolibrary.org/obo/DOID_2218	blood platelet disease		A blood platelet disease that is characterized by low a platelet count in the blood.
http://purl.obolibrary.org/obo/DOID_1595	melancholic depression	http://purl.obolibrary.org/obo/DOID_1470	major depressive disorder		A major depressive disorder characterized by near-complete absence of pleasure.
http://purl.obolibrary.org/obo/DOID_1596	depressive disorder	http://purl.obolibrary.org/obo/DOID_3324	mood disorder		A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.
http://purl.obolibrary.org/obo/DOID_16	integumentary system disease	http://purl.obolibrary.org/obo/DOID_7	disease of anatomical entity		A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages.
http://purl.obolibrary.org/obo/DOID_1602	lymphadenitis	http://purl.obolibrary.org/obo/DOID_9942	lymph node disease		A lymph node disease that is characterized by an acute or chronic inflammation of one or more lymph nodes.
http://purl.obolibrary.org/obo/DOID_1607	hypoglycemic coma	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease that is characterized by coma or unconsciousness, develops from a prolonged insufficient supply of glucose to the brain, has_symptom decreased cognition, has_symptom seizure, and has_symptom coma.
http://purl.obolibrary.org/obo/DOID_161	keratosis	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease characterized_by growth of keratin on the skin or mucous membranes.
http://purl.obolibrary.org/obo/DOID_1612	breast cancer	http://purl.obolibrary.org/obo/DOID_3463	breast disease		An organ system cancer that originates in the mammary gland.
http://purl.obolibrary.org/obo/DOID_1614	male breast cancer	http://purl.obolibrary.org/obo/DOID_1612	breast cancer		A breast cancer that occurs in males.
http://purl.obolibrary.org/obo/DOID_1616	benign eccrine breast spiradenoma	http://purl.obolibrary.org/obo/DOID_0060082	breast benign neoplasm		A breast benign neoplasm that arises_from cutaneous sweat glands and is characterized microscopically by two-cell populations: small, dark, basaloid cells with hyperchromatic nuclei, which are immunoreactive for P63 and calponin, and larger cells with a pale nucleus, often near the center of the cluster (inner cells), which are immunoreactive for CK7 and CD117 (C-kit).
http://purl.obolibrary.org/obo/DOID_1618	breast fibroadenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast.
http://purl.obolibrary.org/obo/DOID_162	cancer	http://purl.obolibrary.org/obo/DOID_14566	disease of cellular proliferation		A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.
http://purl.obolibrary.org/obo/DOID_1623	breast leiomyoma	http://purl.obolibrary.org/obo/DOID_0060082	breast benign neoplasm		A breast benign neoplasm that has_material_basis_in smooth muscle cells.
http://purl.obolibrary.org/obo/DOID_1625	breast adenoma	http://purl.obolibrary.org/obo/DOID_657	adenoma		A breast benign neoplasm that is has_material_basis_in epithelial tissue in which tumor cells form glands or glandlike structures.
http://purl.obolibrary.org/obo/DOID_1626	breast duct papilloma	http://purl.obolibrary.org/obo/DOID_2615	papilloma		An intraductal papillary breast neoplasm that is has_material_basis_in epithelial tissue on papillae of vascularized connective tissue.
http://purl.obolibrary.org/obo/DOID_1628	intraductal papillary breast neoplasm	http://purl.obolibrary.org/obo/DOID_3013	intraductal breast benign neoplasm		An intraductal breast benign neoplasm that is characterized by fingerlike growth projections.
http://purl.obolibrary.org/obo/DOID_1629	breast myofibroblastoma	http://purl.obolibrary.org/obo/DOID_0060082	breast benign neoplasm		A breast benign neoplasm that derives_from precursor mesenchymal cells with myofibroblastic differentiation.
http://purl.obolibrary.org/obo/DOID_1631	benign breast phyllodes tumor	http://purl.obolibrary.org/obo/DOID_0060082	breast benign neoplasm		A breast benign neoplasm that has_material_basis_in epithelial and stromal tissue and derives_from periductal stromal cells of the breast.
http://purl.obolibrary.org/obo/DOID_1637	breast angiomatosis	http://purl.obolibrary.org/obo/DOID_3463	breast disease		A breast disease that is characterized by diffuse vascularity surrounding ducts and lobules without invasion, large irregular vascular spaces and flat epithelium without atypia.
http://purl.obolibrary.org/obo/DOID_1638	central nervous system tuberculosis	http://purl.obolibrary.org/obo/DOID_331	central nervous system disease		An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord.
http://purl.obolibrary.org/obo/DOID_1639	skeletal tuberculosis	http://purl.obolibrary.org/obo/DOID_0080001	bone disease		An extrapulmonary tuberculosis that results in formation of lesions located in bone.
http://purl.obolibrary.org/obo/DOID_1641	benign breast adenomyoepithelioma	http://purl.obolibrary.org/obo/DOID_0060082	breast benign neoplasm		A breast benign neoplasm that is characterized by dual differentiation into luminal cells and myoepithelial cells.
http://purl.obolibrary.org/obo/DOID_1642	breast adenomyoepithelioma	http://purl.obolibrary.org/obo/DOID_3004	breast myoepithelial neoplasm		A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells.
http://purl.obolibrary.org/obo/DOID_1647	female breast upper-inner quadrant cancer	http://purl.obolibrary.org/obo/DOID_0050671	female breast cancer		A female breast cancer that is located_in the upper-inner quadrant of the breast.
http://purl.obolibrary.org/obo/DOID_1649	female breast lower-inner quadrant cancer	http://purl.obolibrary.org/obo/DOID_0050671	female breast cancer		A female breast cancer that is located_in the lower-inner quadrant of the breast.
http://purl.obolibrary.org/obo/DOID_1650	female breast axillary tail cancer	http://purl.obolibrary.org/obo/DOID_0050671	female breast cancer		A female breast cancer that is located_in the breast tissue extending into the axilla.
http://purl.obolibrary.org/obo/DOID_1657	ventricular septal defect	http://purl.obolibrary.org/obo/DOID_1681	heart septal defect		A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles.
http://purl.obolibrary.org/obo/DOID_1659	supratentorial cancer	http://purl.obolibrary.org/obo/DOID_1319	brain cancer		A brain cancer that is located in the supratentorial region.
http://purl.obolibrary.org/obo/DOID_1664	pineoblastoma	http://purl.obolibrary.org/obo/DOID_5032	pineal gland cancer		A pineal gland neoplasm located_in the brain.
http://purl.obolibrary.org/obo/DOID_1672	spontaneous tension pneumothorax	http://purl.obolibrary.org/obo/DOID_1673	pneumothorax		A pneumothorax that is characterized by a pneumothorax in which the pressure of intrapleural gas exceeds atmospheric pressure resulting in acute onset chest pain and shortness of breath.
http://purl.obolibrary.org/obo/DOID_1673	pneumothorax	http://purl.obolibrary.org/obo/DOID_1532	pleural disease		A pleural disease that is characterized as an abnormal collection of air in the pleural space between the lung and the chest wall.
http://purl.obolibrary.org/obo/DOID_1678	chronic interstitial cystitis	http://purl.obolibrary.org/obo/DOID_1680	chronic cystitis		A chronic cystitis characterized by unpleasant sensation related to the bladder and lower urinary tract in the absence of identifiable causes and has_symptom pain, has_symptom pressure, has_symptom discomfort, has_symptom dysuria, and/or has_symptom urinary frequency.
http://purl.obolibrary.org/obo/DOID_1679	cystitis	http://purl.obolibrary.org/obo/DOID_365	bladder disease		A bladder disease that is characterized by inflammation of the bladder.
http://purl.obolibrary.org/obo/DOID_1682	congenital heart disease	http://purl.obolibrary.org/obo/DOID_114	heart disease		A physical disorder that is characterized by problems with the heart's structure that are present at birth.
http://purl.obolibrary.org/obo/DOID_1686	glaucoma	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.
http://purl.obolibrary.org/obo/DOID_1687	neovascular glaucoma	http://purl.obolibrary.org/obo/DOID_1686	glaucoma		A glaucoma characterized by narrowing of the anterior chamber angle secondary to neovascularization along the iris and iridocorneal angle such that the aqueous fluid outflow is blocked and intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Neovascular glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Neovascular glaucoma can be related to abnormal angiogenesis with ischemic retinal diseases, inflammation, diabetes mellitus, intraocular malignancy, and autoimmune diseases.
http://purl.obolibrary.org/obo/DOID_169	neuroendocrine tumor	http://purl.obolibrary.org/obo/DOID_170	endocrine gland cancer		An endocrine gland cancer that has_material_basis_in neuroendocrine cells.
http://purl.obolibrary.org/obo/DOID_1697	ichthyosis	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed.
http://purl.obolibrary.org/obo/DOID_17	musculoskeletal system disease	http://purl.obolibrary.org/obo/DOID_7	disease of anatomical entity		A disease of anatomical entity that occurs in the muscular and/or skeletal system.
http://purl.obolibrary.org/obo/DOID_170	endocrine gland cancer	http://purl.obolibrary.org/obo/DOID_0050686	organ system cancer		An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system.
http://purl.obolibrary.org/obo/DOID_1700	X-linked ichthyosis	http://purl.obolibrary.org/obo/DOID_1697	ichthyosis		An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22.
http://purl.obolibrary.org/obo/DOID_1701	steroid inherited metabolic disorder	http://purl.obolibrary.org/obo/DOID_3146	lipid metabolism disorder		A lipid metabolism disorder that involves defects in steroid metabolism.
http://purl.obolibrary.org/obo/DOID_1702	ichthyosis vulgaris	http://purl.obolibrary.org/obo/DOID_1697	ichthyosis		An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene (FLG) on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface.
http://purl.obolibrary.org/obo/DOID_1712	aortic valve stenosis	http://purl.obolibrary.org/obo/DOID_62	aortic valve disease		An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.
http://purl.obolibrary.org/obo/DOID_1725	peritoneum cancer	http://purl.obolibrary.org/obo/DOID_0050686	organ system cancer		An organ system cancer that is located in the peritoneum.
http://purl.obolibrary.org/obo/DOID_1731	histoplasmosis	http://purl.obolibrary.org/obo/DOID_0050292	primary systemic mycosis		A primary systemic mycosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains.
http://purl.obolibrary.org/obo/DOID_1733	cryptosporidiosis	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection.
http://purl.obolibrary.org/obo/DOID_1738	small intestine leiomyoma	http://purl.obolibrary.org/obo/DOID_7505	small intestine benign neoplasm		A small intestine benign neoplasm that is located_in the small intestine.
http://purl.obolibrary.org/obo/DOID_1748	conjunctival squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_5467	conjunctival cancer		A conjunctival cancer characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that has infiltrated beyond the confines of the epithelial basement membrane.
http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A carcinoma that derives_from squamous epithelial cells.
http://purl.obolibrary.org/obo/DOID_175	vascular cancer	http://purl.obolibrary.org/obo/DOID_178	vascular disease		A cardiovascular cancer that is located_in blood vessels.
http://purl.obolibrary.org/obo/DOID_1756	facial nerve disease	http://purl.obolibrary.org/obo/DOID_5656	cranial nerve disease		A cranial nerve disease that is located_in the facial nerve (seventh cranial nerve.
http://purl.obolibrary.org/obo/DOID_176	cardiovascular cancer	http://purl.obolibrary.org/obo/DOID_1287	cardiovascular system disease		An organ system cancer that located_in the heart and blood vessels.
http://purl.obolibrary.org/obo/DOID_1762	cheilitis	http://purl.obolibrary.org/obo/DOID_9297	lip disease		A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa.
http://purl.obolibrary.org/obo/DOID_1766	factitious disorder	http://purl.obolibrary.org/obo/DOID_150	disease of mental health		A disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness.
http://purl.obolibrary.org/obo/DOID_178	vascular disease	http://purl.obolibrary.org/obo/DOID_1287	cardiovascular system disease		A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart.
http://purl.obolibrary.org/obo/DOID_1781	thyroid cancer	http://purl.obolibrary.org/obo/DOID_50	thyroid gland disease		An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage.
http://purl.obolibrary.org/obo/DOID_1787	pericarditis	http://purl.obolibrary.org/obo/DOID_0050829	pericardium disease		A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain.
http://purl.obolibrary.org/obo/DOID_18	urinary system disease	http://purl.obolibrary.org/obo/DOID_7	disease of anatomical entity		A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra.
http://purl.obolibrary.org/obo/DOID_182	calcinosis	http://purl.obolibrary.org/obo/DOID_10575	calcium metabolism disease		A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue.
http://purl.obolibrary.org/obo/DOID_1826	epilepsy	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.
http://purl.obolibrary.org/obo/DOID_1827	generalized epilepsy	http://purl.obolibrary.org/obo/DOID_1826	epilepsy		An epilepsy syndrome that is characterized by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain.
http://purl.obolibrary.org/obo/DOID_184	bone cancer	http://purl.obolibrary.org/obo/DOID_201	connective tissue cancer		A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue.
http://purl.obolibrary.org/obo/DOID_1882	atrial heart septal defect	http://purl.obolibrary.org/obo/DOID_1681	heart septal defect		A heart septal defect located_in in the septum that separates the two atria of the heart.
http://purl.obolibrary.org/obo/DOID_1884	viral hepatitis	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A hepatitis that involves viral infection causing inflammation of the liver.
http://purl.obolibrary.org/obo/DOID_1891	optic nerve disease	http://purl.obolibrary.org/obo/DOID_5656	cranial nerve disease		A cranial nerve disease that is located_in the optic nerve.
http://purl.obolibrary.org/obo/DOID_1909	melanoma	http://purl.obolibrary.org/obo/DOID_0050687	cell type cancer		A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.
http://purl.obolibrary.org/obo/DOID_192	sex cord-gonadal stromal tumor	http://purl.obolibrary.org/obo/DOID_193	reproductive organ cancer		A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary or testis and derives_from granulosa cells, Leydig cells, Sertoli cells, and fibroblasts.
http://purl.obolibrary.org/obo/DOID_1923	disorder of sexual development	http://purl.obolibrary.org/obo/DOID_2277	gonadal disease		A gonadal disease that is characterized by atypical development of chromosomal, gonadal, or anatomic sex.
http://purl.obolibrary.org/obo/DOID_1924	hypogonadism	http://purl.obolibrary.org/obo/DOID_2277	gonadal disease		A gonadal disease that is characterized by diminished functional activity of the gonads.
http://purl.obolibrary.org/obo/DOID_1927	sphingolipidosis	http://purl.obolibrary.org/obo/DOID_9455	lipid storage disease		A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates.
http://purl.obolibrary.org/obo/DOID_193	reproductive organ cancer	http://purl.obolibrary.org/obo/DOID_15	reproductive system disease		An organ system cancer that is manifested in the reproductive organs.
http://purl.obolibrary.org/obo/DOID_1934	dysostosis	http://purl.obolibrary.org/obo/DOID_0080006	bone development disease		A bone development disease that results in defective ossification of bone.
http://purl.obolibrary.org/obo/DOID_1935	Bardet-Biedl syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.
http://purl.obolibrary.org/obo/DOID_1936	atherosclerosis	http://purl.obolibrary.org/obo/DOID_2348	arteriosclerotic cardiovascular disease		An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.
http://purl.obolibrary.org/obo/DOID_1962	fallopian tube disease	http://purl.obolibrary.org/obo/DOID_229	female reproductive system disease		A female reproductive system disease that is located_in the fallopian tube.
http://purl.obolibrary.org/obo/DOID_1969	cerebral palsy	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance.
http://purl.obolibrary.org/obo/DOID_1984	rectal benign neoplasm	http://purl.obolibrary.org/obo/DOID_4610	intestinal benign neoplasm		An intestinal benign neoplasm located_in the rectum.
http://purl.obolibrary.org/obo/DOID_2000	otosalpingitis	http://purl.obolibrary.org/obo/DOID_9739	eustachian tube disease		A eustachian tube disorder which involves inflammation of the mucous membrane of the cartilagenous portion of the eustachian tube caused by acute nasopharyngitis, infection from some pathogenic microbes or trauma of the tube.
http://purl.obolibrary.org/obo/DOID_201	connective tissue cancer	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A musculoskeletal system cancer that is located_in connective tissue.
http://purl.obolibrary.org/obo/DOID_2030	anxiety disorder	http://purl.obolibrary.org/obo/DOID_1561	cognitive disorder		A cognitive disorder that involves an excessive, irrational dread of everyday situations.
http://purl.obolibrary.org/obo/DOID_2033	communication disorder	http://purl.obolibrary.org/obo/DOID_0060038	specific developmental disorder		A specific developmental disorder that involves specific developmental disorders of speech and language.
http://purl.obolibrary.org/obo/DOID_2034	encephalomalacia	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease that is characterized by cerebral softening located_in cerebrum has_material_basis_in injured or dead cells of the central nervous system.
http://purl.obolibrary.org/obo/DOID_204	enthesopathy	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A connective tissue disease characterized by damage of tissues located_in the entheses, the site of insertion of tendons or ligaments into bones or joint capsules, with symptoms of pain, swelling and inflammation.
http://purl.obolibrary.org/obo/DOID_205	hyperostosis	http://purl.obolibrary.org/obo/DOID_0080005	bone remodeling disease		A bone remodeling disease that results in an abnormal growth of located in bone.
http://purl.obolibrary.org/obo/DOID_2051	maxillary sinusitis	http://purl.obolibrary.org/obo/DOID_0050127	sinusitis		A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache.
http://purl.obolibrary.org/obo/DOID_2059	vulvar disease	http://purl.obolibrary.org/obo/DOID_229	female reproductive system disease		A female reproductive system disease that is located_in the vulva.
http://purl.obolibrary.org/obo/DOID_2113	coccidiosis	http://purl.obolibrary.org/obo/DOID_2789	parasitic protozoa infectious disease		A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection.
http://purl.obolibrary.org/obo/DOID_2115	B cell deficiency	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly.
http://purl.obolibrary.org/obo/DOID_2123	tularemia	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that has_material_basis_in Francisella tularensis, which is transmitted by dog tick bite (Dermacentor variabilis), transmitted by deer flies (Chrysops sp) or transmitted by contact with infected animal tissues.
http://purl.obolibrary.org/obo/DOID_2133	central nervous system sarcoma	http://purl.obolibrary.org/obo/DOID_3620	central nervous system cancer		A central nervous system cancer develops from transformed cells of mesenchymal origin located_in brain and spine, has_material_basis_in abnormally proliferating cells derives_from mesoderm.
http://purl.obolibrary.org/obo/DOID_2149	urogenital tuberculosis	http://purl.obolibrary.org/obo/DOID_0050598	extrapulmonary tuberculosis		An extrapulmonary tuberculosis that is located_in urogenital system.
http://purl.obolibrary.org/obo/DOID_216	dental caries	http://purl.obolibrary.org/obo/DOID_214	teeth hard tissue disease		A teeth hard tissue disease that is characterized by damage to a tooth that can happen when decay-causing bacteria in your mouth make acids that attack the tooth’s surface, or enamel.
http://purl.obolibrary.org/obo/DOID_2170	vaginitis	http://purl.obolibrary.org/obo/DOID_121	vaginal disease		A vaginal disease that is characterized by inflammation of the vagina.
http://purl.obolibrary.org/obo/DOID_2187	amelogenesis imperfecta	http://purl.obolibrary.org/obo/DOID_693	dental enamel hypoplasia		A dental enamel hypoplasia characterized by abnormal enamel formation.
http://purl.obolibrary.org/obo/DOID_219	colon cancer	http://purl.obolibrary.org/obo/DOID_9256	colorectal cancer		A colorectal cancer that is located_in the colon.
http://purl.obolibrary.org/obo/DOID_2218	blood platelet disease	http://purl.obolibrary.org/obo/DOID_1247	blood coagulation disease		A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction.
http://purl.obolibrary.org/obo/DOID_222	perichondritis of auricle	http://purl.obolibrary.org/obo/DOID_9463	otitis externa		An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it.
http://purl.obolibrary.org/obo/DOID_2234	focal epilepsy	http://purl.obolibrary.org/obo/DOID_1826	epilepsy		An epilepsy syndrome that is characterized by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response.
http://purl.obolibrary.org/obo/DOID_2237	hepatitis	http://purl.obolibrary.org/obo/DOID_409	liver disease		A liver disease that is characterized as an inflammation of the liver.
http://purl.obolibrary.org/obo/DOID_224	transient cerebral ischemia	http://purl.obolibrary.org/obo/DOID_2316	brain ischemia		A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.
http://purl.obolibrary.org/obo/DOID_225	syndrome	http://purl.obolibrary.org/obo/DOID_4	disease		A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality.
http://purl.obolibrary.org/obo/DOID_2253	cervix disease	http://purl.obolibrary.org/obo/DOID_345	uterine disease		An uterine disease that is located_in the cervix.
http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia	http://purl.obolibrary.org/obo/DOID_1222	cartilage disease		A bone development disease that results_in defective development of cartilage or bone.
http://purl.obolibrary.org/obo/DOID_227	ankylosis	http://purl.obolibrary.org/obo/DOID_381	arthropathy		An arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself.
http://purl.obolibrary.org/obo/DOID_229	female reproductive system disease	http://purl.obolibrary.org/obo/DOID_15	reproductive system disease		A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes.
http://purl.obolibrary.org/obo/DOID_231	motor neuron disease	http://purl.obolibrary.org/obo/DOID_1289	neurodegenerative disease		A neurodegenerative disease that is located_in the motor neurons.
http://purl.obolibrary.org/obo/DOID_2340	craniosynostosis	http://purl.obolibrary.org/obo/DOID_11971	synostosis		A synostosis that results_in premature fusion located_in skull.
http://purl.obolibrary.org/obo/DOID_2345	plasma protein metabolism disease	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		An inherited metabolic disorder that involves plasma protein metabolism malfunction.
http://purl.obolibrary.org/obo/DOID_2349	arteriosclerosis	http://purl.obolibrary.org/obo/DOID_0050828	artery disease		An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.
http://purl.obolibrary.org/obo/DOID_235	colonic benign neoplasm	http://purl.obolibrary.org/obo/DOID_5353	colonic disease		An intestinal benign neoplasm that is located_in the colon.
http://purl.obolibrary.org/obo/DOID_2355	anemia	http://purl.obolibrary.org/obo/DOID_74	hematopoietic system disease		A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.
http://purl.obolibrary.org/obo/DOID_2361	macrocytic anemia	http://purl.obolibrary.org/obo/DOID_2355	anemia		An anemia that is characterized by the production of abnormally large red blood cells and mean corpuscular volume (MCV) (more than 100 fL).
http://purl.obolibrary.org/obo/DOID_2365	West Nile encephalitis	http://purl.obolibrary.org/obo/DOID_936	brain disease		A viral infectious disease that results in inflammation located in brain, has_material_basis_in West Nile virus (Orthoflavivirus nilense), which is transmitted_by Culex, Aedes, or Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis.
http://purl.obolibrary.org/obo/DOID_2377	multiple sclerosis	http://purl.obolibrary.org/obo/DOID_3213	demyelinating disease		A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.
http://purl.obolibrary.org/obo/DOID_2383	neonatal jaundice	http://purl.obolibrary.org/obo/DOID_10123	pigmentation disease		A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant.
http://purl.obolibrary.org/obo/DOID_2394	ovarian cancer	http://purl.obolibrary.org/obo/DOID_120	female reproductive organ cancer		A female reproductive organ cancer that is located_in the ovary.
http://purl.obolibrary.org/obo/DOID_2452	thrombophilia	http://purl.obolibrary.org/obo/DOID_1247	blood coagulation disease		A blood coagulation disease that is characterized by an increased tendency to form clots.
http://purl.obolibrary.org/obo/DOID_2456	blepharoconjunctivitis	http://purl.obolibrary.org/obo/DOID_9423	blepharitis		A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis.
http://purl.obolibrary.org/obo/DOID_2468	psychotic disorder	http://purl.obolibrary.org/obo/DOID_1561	cognitive disorder		A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality.
http://purl.obolibrary.org/obo/DOID_2473	opportunistic mycosis	http://purl.obolibrary.org/obo/DOID_0050136	systemic mycosis		A systemic mycosis that results_in fungal infection located_in human body of immunocompromised individuals, has_material_basis_in Fungi. The organisms invade via the respiratory tract, alimentary tract, or intravascular devices.
http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia	http://purl.obolibrary.org/obo/DOID_607	paraplegia		A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.
http://purl.obolibrary.org/obo/DOID_2494	angiodysplasia	http://purl.obolibrary.org/obo/DOID_178	vascular disease		A vascular disease that is characterized as a small vascular malformation of the gut.
http://purl.obolibrary.org/obo/DOID_2527	nephrosis	http://purl.obolibrary.org/obo/DOID_576	proteinuria		A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.
http://purl.obolibrary.org/obo/DOID_2531	hematologic cancer	http://purl.obolibrary.org/obo/DOID_74	hematopoietic system disease		An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.
http://purl.obolibrary.org/obo/DOID_2537	inflammatory and toxic neuropathy	http://purl.obolibrary.org/obo/DOID_870	neuropathy		A neuropathy that is caused by drug ingestion, drug or chemical abuse, or industrial chemical exposure from the workplace or the environment.
http://purl.obolibrary.org/obo/DOID_255	hemangioma	http://purl.obolibrary.org/obo/DOID_178	vascular disease		A cardiovascular organ benign neoplasm that has_material_basis_in endothelial cells that line blood vessels and is characterized by increased number of normal or abnormal vessels filled with blood.
http://purl.obolibrary.org/obo/DOID_2557	chondromalacia	http://purl.obolibrary.org/obo/DOID_6227	articular cartilage disease		A cartilage disease that is characterized by softening and breakdown of cartilage inside a joint.
http://purl.obolibrary.org/obo/DOID_2568	cervicitis	http://purl.obolibrary.org/obo/DOID_2253	cervix disease		A cervix disease that is characterized by inflammation of the cervix.
http://purl.obolibrary.org/obo/DOID_2580	rhizomelic chondrodysplasia punctata	http://purl.obolibrary.org/obo/DOID_2581	chondrodysplasia punctata		A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity.
http://purl.obolibrary.org/obo/DOID_2581	chondrodysplasia punctata	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography.
http://purl.obolibrary.org/obo/DOID_2583	agammaglobulinemia	http://purl.obolibrary.org/obo/DOID_2115	B cell deficiency		A B cell deficiency that is caused by a reduction in all types of gamma globulins.
http://purl.obolibrary.org/obo/DOID_2596	larynx cancer	http://purl.obolibrary.org/obo/DOID_786	laryngeal disease		A respiratory system cancer that is located_in the larynx.
http://purl.obolibrary.org/obo/DOID_26	pancreas disease	http://purl.obolibrary.org/obo/DOID_28	endocrine system disease		An endocrine system disease that is located_in the pancreas.
http://purl.obolibrary.org/obo/DOID_2602	chondroma	http://purl.obolibrary.org/obo/DOID_0060084	cell type benign neoplasm		A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern.
http://purl.obolibrary.org/obo/DOID_2615	papilloma	http://purl.obolibrary.org/obo/DOID_0060084	cell type benign neoplasm		A cell type benign neoplam that is composed of epithelial tissue on papillae of vascularized connective tissue.
http://purl.obolibrary.org/obo/DOID_2658	dermoid cyst	http://purl.obolibrary.org/obo/DOID_2660	cystic teratoma		A cystic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm).
http://purl.obolibrary.org/obo/DOID_2703	synovitis	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling.
http://purl.obolibrary.org/obo/DOID_272	hepatic vascular disease	http://purl.obolibrary.org/obo/DOID_409	liver disease		A vascular disease that is located_in the liver.
http://purl.obolibrary.org/obo/DOID_2722	acrodermatitis	http://purl.obolibrary.org/obo/DOID_2723	dermatitis		A dermatitis that selectively affects the hands and feet.
http://purl.obolibrary.org/obo/DOID_2723	dermatitis	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin.
http://purl.obolibrary.org/obo/DOID_2731	vesiculobullous skin disease	http://purl.obolibrary.org/obo/DOID_8502	bullous skin disease		A bullous skin disease that is characterized by fluid filled blisters.
http://purl.obolibrary.org/obo/DOID_2741	bilirubin metabolic disorder	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.
http://purl.obolibrary.org/obo/DOID_2742	auditory system disease	http://purl.obolibrary.org/obo/DOID_0050155	sensory system disease		A sensory system disease that is characterized by auditory dysfunction located_in the auditory system.
http://purl.obolibrary.org/obo/DOID_2747	glycogen storage disease	http://purl.obolibrary.org/obo/DOID_0050728	glycogen metabolism disorder		A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.
http://purl.obolibrary.org/obo/DOID_2762	bone carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
http://purl.obolibrary.org/obo/DOID_2769	tic disorder	http://purl.obolibrary.org/obo/DOID_0060038	specific developmental disorder		A specific developmental disorder that is characterized by the persistent presence of involuntary brief movements or sounds occurring intermittently and unpredictably out of a background of normal motor activity.
http://purl.obolibrary.org/obo/DOID_2786	cerebellar disease	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease that is characterized by damage to brain substance located_in cerebellum; has_symptom ataxia, has_symptom dysarthria, and has_symptom cerebellar cognitive affective syndrome.
http://purl.obolibrary.org/obo/DOID_2789	parasitic protozoa infectious disease	http://purl.obolibrary.org/obo/DOID_1398	parasitic infectious disease		A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes.
http://purl.obolibrary.org/obo/DOID_2797	idiopathic interstitial pneumonia	http://purl.obolibrary.org/obo/DOID_552	pneumonia		A pneumonia located_in the lung parenchyma of unknown cause.
http://purl.obolibrary.org/obo/DOID_28	endocrine system disease	http://purl.obolibrary.org/obo/DOID_7	disease of anatomical entity		A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body.
http://purl.obolibrary.org/obo/DOID_2841	asthma	http://purl.obolibrary.org/obo/DOID_1176	bronchial disease		A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.
http://purl.obolibrary.org/obo/DOID_2843	long QT syndrome	http://purl.obolibrary.org/obo/DOID_0060036	intrinsic cardiomyopathy		An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles).
http://purl.obolibrary.org/obo/DOID_285	hairy cell leukemia	http://purl.obolibrary.org/obo/DOID_1040	chronic lymphocytic leukemia		A chronic lymphocytic leukemia that is characterized by over production of B cells (lymphocytes) by the bone marrow where the B cells appear hairy under a microscope.
http://purl.obolibrary.org/obo/DOID_2862	glucosephosphate dehydrogenase deficiency	http://purl.obolibrary.org/obo/DOID_2978	carbohydrate metabolic disorder		A carbohydrate metabolic disorder that is characterized by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH).
http://purl.obolibrary.org/obo/DOID_289	endometriosis	http://purl.obolibrary.org/obo/DOID_229	female reproductive system disease		A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.
http://purl.obolibrary.org/obo/DOID_2914	immune system disease	http://purl.obolibrary.org/obo/DOID_7	disease of anatomical entity		A disease of anatomical entity that is located_in the immune system.
http://purl.obolibrary.org/obo/DOID_2916	hypersensitivity reaction type IV disease	http://purl.obolibrary.org/obo/DOID_0060056	hypersensitivity reaction disease		A hypersensitivity reaction disease that is characterized by a cell-mediated response to antigens, where Th1 helper T cells react with antigens on antigen-presenting cells and cause a delayed type immune response.
http://purl.obolibrary.org/obo/DOID_2921	glomerulonephritis	http://purl.obolibrary.org/obo/DOID_10952	nephritis		A nephritis that causes inflammation of the glomeruli located_in kidney.
http://purl.obolibrary.org/obo/DOID_2952	inner ear disease	http://purl.obolibrary.org/obo/DOID_2742	auditory system disease		An auditory system disease that is located in the part of the ear that contains organs of the senses of hearing and equilibrium.
http://purl.obolibrary.org/obo/DOID_2959	hyperimmunoglobulin syndrome	http://purl.obolibrary.org/obo/DOID_2115	B cell deficiency		A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others.
http://purl.obolibrary.org/obo/DOID_2965	bursitis	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A connective tissue disease that is characterized by the inflammation of bursae, small, fluid-filled sacs that cushion the bones, tendons and muscles near your joints.
http://purl.obolibrary.org/obo/DOID_2978	carbohydrate metabolic disorder	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.
http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue.
http://purl.obolibrary.org/obo/DOID_2998	testicular cancer	http://purl.obolibrary.org/obo/DOID_3856	male reproductive organ cancer		A male reproductive system cancer that is located_in the testicles.
http://purl.obolibrary.org/obo/DOID_3004	breast myoepithelial neoplasm	http://purl.obolibrary.org/obo/DOID_1612	breast cancer		A breast cancer that arises from myoepithelial cells, which are a normal constituent of the salivary acini and ducts and are found between the epithelial cells and the basement membrane.
http://purl.obolibrary.org/obo/DOID_3013	intraductal breast benign neoplasm	http://purl.obolibrary.org/obo/DOID_0060082	breast benign neoplasm		A breast benign neoplasm that is located_in the breast ducts.
http://purl.obolibrary.org/obo/DOID_302	substance abuse	http://purl.obolibrary.org/obo/DOID_303	substance-related disorder		A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning.
http://purl.obolibrary.org/obo/DOID_303	substance-related disorder	http://purl.obolibrary.org/obo/DOID_150	disease of mental health		A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning.
http://purl.obolibrary.org/obo/DOID_3044	food allergy	http://purl.obolibrary.org/obo/DOID_0060502	gastrointestinal allergy		A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system.
http://purl.obolibrary.org/obo/DOID_305	carcinoma	http://purl.obolibrary.org/obo/DOID_0050687	cell type cancer		A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
http://purl.obolibrary.org/obo/DOID_3068	glioblastoma	http://purl.obolibrary.org/obo/DOID_3069	malignant astrocytoma		A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.
http://purl.obolibrary.org/obo/DOID_3070	high grade glioma	http://purl.obolibrary.org/obo/DOID_0050687	cell type cancer		A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.
http://purl.obolibrary.org/obo/DOID_3082	interstitial lung disease	http://purl.obolibrary.org/obo/DOID_850	lung disease		A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.
http://purl.obolibrary.org/obo/DOID_3093	nervous system cancer	http://purl.obolibrary.org/obo/DOID_863	nervous system disease		An organ system cancer located_in the nervous system that affects the central or peripheral nervous system.
http://purl.obolibrary.org/obo/DOID_3117	hepatobiliary benign neoplasm	http://purl.obolibrary.org/obo/DOID_0050624	gastrointestinal system benign neoplasm		A gastrointestinal system benign neoplasm located_in the hepatobiliary system.
http://purl.obolibrary.org/obo/DOID_3119	gastrointestinal system cancer	http://purl.obolibrary.org/obo/DOID_77	gastrointestinal system disease		An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system.
http://purl.obolibrary.org/obo/DOID_3121	gallbladder cancer	http://purl.obolibrary.org/obo/DOID_0060262	gallbladder disease		A biliary tract cancer that is located_in the gallbladder.
http://purl.obolibrary.org/obo/DOID_3128	anus disease	http://purl.obolibrary.org/obo/DOID_1285	rectal disease		A rectal disease located_in the anus.
http://purl.obolibrary.org/obo/DOID_3133	acute porphyria	http://purl.obolibrary.org/obo/DOID_13268	porphyria		A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis.
http://purl.obolibrary.org/obo/DOID_3146	lipid metabolism disorder	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		An inherited metabolic disorder that involves the creation and degradation of lipids.
http://purl.obolibrary.org/obo/DOID_3151	skin squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_3451	skin carcinoma		A skin carcinoma that has_material_basis_in squamous cells.
http://purl.obolibrary.org/obo/DOID_3168	squamous cell neoplasm	http://purl.obolibrary.org/obo/DOID_0060084	cell type benign neoplasm		A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities.
http://purl.obolibrary.org/obo/DOID_3187	brain oligodendroglioma	http://purl.obolibrary.org/obo/DOID_0060108	brain glioma		A brain glioma that has_material_basis_in oligodendrocytes.
http://purl.obolibrary.org/obo/DOID_3192	neurilemmoma	http://purl.obolibrary.org/obo/DOID_0060084	cell type benign neoplasm		A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells.
http://purl.obolibrary.org/obo/DOID_3209	junctional epidermolysis bullosa	http://purl.obolibrary.org/obo/DOID_2730	epidermolysis bullosa		An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin.
http://purl.obolibrary.org/obo/DOID_3211	lysosomal storage disease	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
http://purl.obolibrary.org/obo/DOID_3213	demyelinating disease	http://purl.obolibrary.org/obo/DOID_331	central nervous system disease		A central nervous system disease that is characterized by damage to the myelin sheath present around nerve axons.
http://purl.obolibrary.org/obo/DOID_3234	central nervous system lymphoma	http://purl.obolibrary.org/obo/DOID_5772	central nervous system hematologic cancer		A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system.
http://purl.obolibrary.org/obo/DOID_3246	embryonal rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_3247	rhabdomyosarcoma		A rhabdomyosarcoma wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo; it occurs most often in the head and neck area or in the genital or urinary organs.
http://purl.obolibrary.org/obo/DOID_326	ischemia	http://purl.obolibrary.org/obo/DOID_178	vascular disease		A vascular disease that is characterized by a restriction in blood supply to tissues.
http://purl.obolibrary.org/obo/DOID_3277	thymus cancer	http://purl.obolibrary.org/obo/DOID_5093	thoracic cancer		An immune system cancer located_in the thymus.
http://purl.obolibrary.org/obo/DOID_3302	chordoma	http://purl.obolibrary.org/obo/DOID_3303	notochordal cancer		A notochordal cancer that derives_from cellular remnants of the notochord.
http://purl.obolibrary.org/obo/DOID_3306	mixed germ cell cancer	http://purl.obolibrary.org/obo/DOID_2994	germ cell cancer		A germ cell cancer that occurs in many forms.
http://purl.obolibrary.org/obo/DOID_331	central nervous system disease	http://purl.obolibrary.org/obo/DOID_863	nervous system disease		A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system.
http://purl.obolibrary.org/obo/DOID_3310	atopic dermatitis	http://purl.obolibrary.org/obo/DOID_3042	allergic contact dermatitis		An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.
http://purl.obolibrary.org/obo/DOID_3312	bipolar disorder	http://purl.obolibrary.org/obo/DOID_3324	mood disorder		A mood disorder that involves alternating periods of mania and depression.
http://purl.obolibrary.org/obo/DOID_3315	lipoma	http://purl.obolibrary.org/obo/DOID_0060123	connective tissue benign neoplasm		A cell type benign neoplasm that is composed of lipocytes.
http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis	http://purl.obolibrary.org/obo/DOID_231	motor neuron disease		A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.
http://purl.obolibrary.org/obo/DOID_3324	mood disorder	http://purl.obolibrary.org/obo/DOID_1561	cognitive disorder		A cognitive disorder that involves a disturbance in mood as the predominant underlying feature.
http://purl.obolibrary.org/obo/DOID_3328	temporal lobe epilepsy	http://purl.obolibrary.org/obo/DOID_2234	focal epilepsy		A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.
http://purl.obolibrary.org/obo/DOID_3331	frontal lobe epilepsy	http://purl.obolibrary.org/obo/DOID_2234	focal epilepsy		A focal epilepsy that is characterized by recurring seizures that affect one hemisphere of the brain.
http://purl.obolibrary.org/obo/DOID_3342	bone inflammation disease	http://purl.obolibrary.org/obo/DOID_0080001	bone disease		A bone disease that results_in inflammation of the located_in bone.
http://purl.obolibrary.org/obo/DOID_3350	mesenchymal cell neoplasm	http://purl.obolibrary.org/obo/DOID_0050687	cell type cancer		A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system.
http://purl.obolibrary.org/obo/DOID_3369	Ewing sarcoma	http://purl.obolibrary.org/obo/DOID_201	connective tissue cancer		A connective tissue cancer that has_material_basis_in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm.
http://purl.obolibrary.org/obo/DOID_3371	chondrosarcoma	http://purl.obolibrary.org/obo/DOID_0080639	bone sarcoma		A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage.
http://purl.obolibrary.org/obo/DOID_3388	periodontal disease	http://purl.obolibrary.org/obo/DOID_403	mouth disease		A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth.
http://purl.obolibrary.org/obo/DOID_3390	palmoplantar keratosis	http://purl.obolibrary.org/obo/DOID_161	keratosis		A keratosis characterized by abnormal thickening of the palms and the soles.
http://purl.obolibrary.org/obo/DOID_3393	coronary artery disease	http://purl.obolibrary.org/obo/DOID_0050828	artery disease		An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.
http://purl.obolibrary.org/obo/DOID_341	peripheral vascular disease	http://purl.obolibrary.org/obo/DOID_178	vascular disease		A vascular disease that is characterized by obstruction of vessels not within the coronary, aortic arch vasculature, or brain.
http://purl.obolibrary.org/obo/DOID_3418	glossopharyngeal nerve disease	http://purl.obolibrary.org/obo/DOID_5656	cranial nerve disease		A cranial nerve disease that is located_in the ninth cranial nerve or its nuclei in the medulla.
http://purl.obolibrary.org/obo/DOID_3426	vestibular disease	http://purl.obolibrary.org/obo/DOID_2952	inner ear disease		An inner ear disease that is located in the vestibular system.
http://purl.obolibrary.org/obo/DOID_3437	laryngitis	http://purl.obolibrary.org/obo/DOID_786	laryngeal disease		A laryngeal disease involving an inflammation of the larynx leading to hoarse voice or a complete loss of voice due to irritation of the vocal cords caused by viral, bacterial or fungal infection, inflammation due to overuse of the vocal cords and excessive coughing, smoking, or alcohol consumption.
http://purl.obolibrary.org/obo/DOID_345	uterine disease	http://purl.obolibrary.org/obo/DOID_229	female reproductive system disease		A female reproductive system disease that is located_in the uterus.
http://purl.obolibrary.org/obo/DOID_3451	skin carcinoma	http://purl.obolibrary.org/obo/DOID_4159	skin cancer		A skin cancer that is located_in tissues of the skin and develops from epithelial cells.
http://purl.obolibrary.org/obo/DOID_3459	breast carcinoma	http://purl.obolibrary.org/obo/DOID_1612	breast cancer		A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
http://purl.obolibrary.org/obo/DOID_3463	breast disease	http://purl.obolibrary.org/obo/DOID_7	disease of anatomical entity		A disease of anatomical entity that is located_in the breast.
http://purl.obolibrary.org/obo/DOID_3479	uveal cancer	http://purl.obolibrary.org/obo/DOID_3480	uveal disease		An ocular cancer that is located_in the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. The uvea is the most common location of intraocular malignancy in adults and may commonly be caused by a subtype of cancer that arises from melanocytes.
http://purl.obolibrary.org/obo/DOID_3480	uveal disease	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye disease affecting the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid.
http://purl.obolibrary.org/obo/DOID_3482	plague	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in Yersinia pestis, which is transmitted_by oriental rat flea (Xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food.
http://purl.obolibrary.org/obo/DOID_3490	Noonan syndrome	http://purl.obolibrary.org/obo/DOID_0080690	RASopathy		A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.
http://purl.obolibrary.org/obo/DOID_3491	Turner syndrome	http://purl.obolibrary.org/obo/DOID_14447	gonadal dysgenesis		A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome.
http://purl.obolibrary.org/obo/DOID_3541	cerebral ventricle cancer	http://purl.obolibrary.org/obo/DOID_368	cerebrum cancer		A cerebrum cancer that is located_in the cerebral ventricles.
http://purl.obolibrary.org/obo/DOID_3565	meningioma	http://purl.obolibrary.org/obo/DOID_3620	central nervous system cancer		A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges.
http://purl.obolibrary.org/obo/DOID_3620	central nervous system cancer	http://purl.obolibrary.org/obo/DOID_331	central nervous system disease		A nervous system cancer that is located_in the central nervous system.
http://purl.obolibrary.org/obo/DOID_3627	aortic aneurysm	http://purl.obolibrary.org/obo/DOID_520	aortic disease		An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size.
http://purl.obolibrary.org/obo/DOID_363	uterine cancer	http://purl.obolibrary.org/obo/DOID_345	uterine disease		A female reproductive organ cancer that is located_in the uterus.
http://purl.obolibrary.org/obo/DOID_365	bladder disease	http://purl.obolibrary.org/obo/DOID_18	urinary system disease		A urinary system disease that is located_in the bladder.
http://purl.obolibrary.org/obo/DOID_3650	lactic acidosis	http://purl.obolibrary.org/obo/DOID_0050758	metabolic acidosis		A metabolic acidosis characterized by buildup of lactate.
http://purl.obolibrary.org/obo/DOID_368	cerebrum cancer	http://purl.obolibrary.org/obo/DOID_1659	supratentorial cancer		A supratentorial cancer that is located_in the cerebrum.
http://purl.obolibrary.org/obo/DOID_3690	brachial plexus neuropathy	http://purl.obolibrary.org/obo/DOID_870	neuropathy		A peripheral nervous system disease that is characterized by damage to nerves in the upper shoulder of the brachial plexus, an area where nerves from the spinal cord branch into the arm nerves.
http://purl.obolibrary.org/obo/DOID_3697	acute transudative otitis media	http://purl.obolibrary.org/obo/DOID_11180	non-suppurative otitis media		A non-suppurative otitis media and eustachian tube disorder with a sudden onset and a short course.
http://purl.obolibrary.org/obo/DOID_37	skin disease	http://purl.obolibrary.org/obo/DOID_16	integumentary system disease		An integumentary system disease that is located_in skin.
http://purl.obolibrary.org/obo/DOID_3717	gastric adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		A stomach carcinoma that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_3753	Hermansky-Pudlak syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.
http://purl.obolibrary.org/obo/DOID_3770	pulmonary fibrosis	http://purl.obolibrary.org/obo/DOID_3082	interstitial lung disease		An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.
http://purl.obolibrary.org/obo/DOID_3798	pleural empyema	http://purl.obolibrary.org/obo/DOID_1532	pleural disease		A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath.
http://purl.obolibrary.org/obo/DOID_381	arthropathy	http://purl.obolibrary.org/obo/DOID_0080001	bone disease		A bone disease that is located_in the joint.
http://purl.obolibrary.org/obo/DOID_3817	cranial nerve palsy	http://purl.obolibrary.org/obo/DOID_5656	cranial nerve disease		A cranial nerve disease that is characterized by complete or partial weakness or paralysis of the areas served by the affected nerve.
http://purl.obolibrary.org/obo/DOID_3856	male reproductive organ cancer	http://purl.obolibrary.org/obo/DOID_48	male reproductive system disease		A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum.
http://purl.obolibrary.org/obo/DOID_3875	thrombophlebitis	http://purl.obolibrary.org/obo/DOID_864	phlebitis		A phlebitis that results from a blood clot in the vessel.
http://purl.obolibrary.org/obo/DOID_3883	Lynch syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.
http://purl.obolibrary.org/obo/DOID_3904	bronchus carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A bronchus cancer that has_material_basis_in epithelial cells.
http://purl.obolibrary.org/obo/DOID_3905	lung carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.
http://purl.obolibrary.org/obo/DOID_3930	otitis interna	http://purl.obolibrary.org/obo/DOID_2952	inner ear disease		An inner ear disease which involves inflammation of the inner ear.
http://purl.obolibrary.org/obo/DOID_3952	adrenal cortex disease	http://purl.obolibrary.org/obo/DOID_9553	adrenal gland disease		An adrenal gland disease that is located_in the adrenal cortex.
http://purl.obolibrary.org/obo/DOID_3963	thyroid gland carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A thyroid gland cancer that has_material_basis_in epithelial cells.
http://purl.obolibrary.org/obo/DOID_397	restrictive cardiomyopathy	http://purl.obolibrary.org/obo/DOID_0060036	intrinsic cardiomyopathy		An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium.
http://purl.obolibrary.org/obo/DOID_3973	medullary thyroid carcinoma	http://purl.obolibrary.org/obo/DOID_3963	thyroid gland carcinoma		A thyroid gland carcinoma that has_material_basis_in parafollicular cells.
http://purl.obolibrary.org/obo/DOID_3978	extrinsic cardiomyopathy	http://purl.obolibrary.org/obo/DOID_0050700	cardiomyopathy		A cardiomyopathy that is characterized by the pathology occurring outside of the myocardium.
http://purl.obolibrary.org/obo/DOID_399	tuberculosis	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.
http://purl.obolibrary.org/obo/DOID_3996	urinary system cancer	http://purl.obolibrary.org/obo/DOID_18	urinary system disease		An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra.
http://purl.obolibrary.org/obo/DOID_4001	ovarian carcinoma	http://purl.obolibrary.org/obo/DOID_2151	malignant ovarian surface epithelial-stromal neoplasm		An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary.
http://purl.obolibrary.org/obo/DOID_403	mouth disease	http://purl.obolibrary.org/obo/DOID_77	gastrointestinal system disease		A gastrointestinal system disease that is located_in the mouth.
http://purl.obolibrary.org/obo/DOID_404	gastrointestinal tuberculosis	http://purl.obolibrary.org/obo/DOID_0050599	abdominal tuberculosis		An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom constipation, has_symptom nausea, and has_symptom vomiting.
http://purl.obolibrary.org/obo/DOID_4045	muscle cancer	http://purl.obolibrary.org/obo/DOID_0080000	muscular disease		A musculoskeletal system cancer that is located_in muscle.
http://purl.obolibrary.org/obo/DOID_4079	heart valve disease	http://purl.obolibrary.org/obo/DOID_114	heart disease		A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right).
http://purl.obolibrary.org/obo/DOID_4090	agnosia	http://purl.obolibrary.org/obo/DOID_2033	communication disorder		A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss.
http://purl.obolibrary.org/obo/DOID_4109	tick infestation	http://purl.obolibrary.org/obo/DOID_4110	parasitic ectoparasitic infectious disease		A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice.
http://purl.obolibrary.org/obo/DOID_4110	parasitic ectoparasitic infectious disease	http://purl.obolibrary.org/obo/DOID_1398	parasitic infectious disease		A parasitic infectious disease that is caused by organisms that live primarily on the surface of the host.
http://purl.obolibrary.org/obo/DOID_4123	nail disease	http://purl.obolibrary.org/obo/DOID_16	integumentary system disease		An integumentary system disease that is located_in nail.
http://purl.obolibrary.org/obo/DOID_4137	common bile duct disease	http://purl.obolibrary.org/obo/DOID_4138	bile duct disease		A bile duct disease that is located_in the common bile duct.
http://purl.obolibrary.org/obo/DOID_4138	bile duct disease	http://purl.obolibrary.org/obo/DOID_9741	biliary tract disease		A biliary tract disease located_in one or more bile ducts.
http://purl.obolibrary.org/obo/DOID_4153	spinal chordoma	http://purl.obolibrary.org/obo/DOID_3302	chordoma		A chordoma that derives_from the spine.
http://purl.obolibrary.org/obo/DOID_4159	skin cancer	http://purl.obolibrary.org/obo/DOID_37	skin disease		An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.
http://purl.obolibrary.org/obo/DOID_417	autoimmune disease	http://purl.obolibrary.org/obo/DOID_2914	immune system disease		An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues.
http://purl.obolibrary.org/obo/DOID_418	systemic scleroderma	http://purl.obolibrary.org/obo/DOID_419	scleroderma		A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.
http://purl.obolibrary.org/obo/DOID_4184	pseudohypoparathyroidism	http://purl.obolibrary.org/obo/DOID_896	metal metabolism disorder		A metal metabolism disorder that is characterized by end-organ resistance to parathyroid hormone and/or a constellation of symptoms collectively termed Albright’s hereditary osteodystrophy, which include shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, and rounded face.
http://purl.obolibrary.org/obo/DOID_4186	articulation disorder	http://purl.obolibrary.org/obo/DOID_92	speech disorder		A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand.
http://purl.obolibrary.org/obo/DOID_4194	glucose metabolism disease	http://purl.obolibrary.org/obo/DOID_2978	carbohydrate metabolic disorder		A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range.
http://purl.obolibrary.org/obo/DOID_420	hypertrichosis	http://purl.obolibrary.org/obo/DOID_421	hair disease		A hair disease characterized by hair growth that is abnormal in quantity or location.
http://purl.obolibrary.org/obo/DOID_4223	pyoderma	http://purl.obolibrary.org/obo/DOID_2723	dermatitis		A dermatitis that is characterized by a pyogenic infection causing the formation of pus.
http://purl.obolibrary.org/obo/DOID_423	myopathy	http://purl.obolibrary.org/obo/DOID_66	muscle tissue disease		A muscular disease in which the muscle fibers do not function resulting in muscular weakness.
http://purl.obolibrary.org/obo/DOID_4251	conjunctival disease	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye disease affecting the conjunctiva, which is the mucous membrane surrounding the eye and interior of the eyelids.
http://purl.obolibrary.org/obo/DOID_4254	osteosclerosis	http://purl.obolibrary.org/obo/DOID_0080005	bone remodeling disease		A bone remodeling disease that results_in abnormal elevated bone density or mass.
http://purl.obolibrary.org/obo/DOID_4284	anal margin carcinoma	http://purl.obolibrary.org/obo/DOID_4159	skin cancer		An anal carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anal margin (where the canal meets the outside skin at the anus).
http://purl.obolibrary.org/obo/DOID_4330	non-Langerhans-cell histiocytosis	http://purl.obolibrary.org/obo/DOID_3405	histiocytosis		A histiocytosis that is characterized by the accumulation of histiocytes that do not meet the phenotypic criteria for the diagnosis of Langerhans cells.
http://purl.obolibrary.org/obo/DOID_4337	tinea capitis	http://purl.obolibrary.org/obo/DOID_8913	dermatophytosis		A dermatophytosis that results_in contagious fungal infection located_in scalp, located_in hair of head, located_in eyebrow or located_in eyelash, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching of the scalp, has_symptom pus filled lesions on the scalp, and has_symptom patches of hair loss, sometimes with a 'black dot' pattern.
http://purl.obolibrary.org/obo/DOID_437	myasthenia gravis	http://purl.obolibrary.org/obo/DOID_438	autoimmune disease of the nervous system		An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath.
http://purl.obolibrary.org/obo/DOID_4376	milk allergy	http://purl.obolibrary.org/obo/DOID_3044	food allergy		A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual.
http://purl.obolibrary.org/obo/DOID_4377	egg allergy	http://purl.obolibrary.org/obo/DOID_3044	food allergy		A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms.
http://purl.obolibrary.org/obo/DOID_438	autoimmune disease of the nervous system	http://purl.obolibrary.org/obo/DOID_863	nervous system disease		An autoimmune disease affecting the nervous system.
http://purl.obolibrary.org/obo/DOID_439	neuromuscular junction disease	http://purl.obolibrary.org/obo/DOID_440	neuromuscular disease		A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction.
http://purl.obolibrary.org/obo/DOID_440	neuromuscular disease	http://purl.obolibrary.org/obo/DOID_870	neuropathy		A neuropathy that affect the nerves that control the voluntary muscles.
http://purl.obolibrary.org/obo/DOID_4448	macular degeneration	http://purl.obolibrary.org/obo/DOID_8466	retinal degeneration		A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.
http://purl.obolibrary.org/obo/DOID_446	primary hyperaldosteronism	http://purl.obolibrary.org/obo/DOID_3947	adrenal gland hyperfunction		An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands.
http://purl.obolibrary.org/obo/DOID_450	myotonic disease	http://purl.obolibrary.org/obo/DOID_9884	muscular dystrophy		A muscular dystrophy that is characterized by progressive muscle wasting and weakness.
http://purl.obolibrary.org/obo/DOID_4501	orofaciodigital syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by malformations of the face, oral cavity, and digits.
http://purl.obolibrary.org/obo/DOID_4531	mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A carcinoma that is characterized by the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation.
http://purl.obolibrary.org/obo/DOID_4535	hypotrichosis	http://purl.obolibrary.org/obo/DOID_421	hair disease		A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis_in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles.
http://purl.obolibrary.org/obo/DOID_4606	bile duct cancer	http://purl.obolibrary.org/obo/DOID_4138	bile duct disease		A biliary tract cancer that is located_in the bile duct.
http://purl.obolibrary.org/obo/DOID_4610	intestinal benign neoplasm	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		A gastrointestinal system benign neoplasm that is located_in the intestine.
http://purl.obolibrary.org/obo/DOID_4644	epidermolysis bullosa simplex	http://purl.obolibrary.org/obo/DOID_2730	epidermolysis bullosa		An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin.
http://purl.obolibrary.org/obo/DOID_4677	keratitis	http://purl.obolibrary.org/obo/DOID_10124	corneal disease		A corneal disease that is characterized by inflammation of the cornea.
http://purl.obolibrary.org/obo/DOID_4691	malignant mediastinal neurogenic neoplasm	http://purl.obolibrary.org/obo/DOID_5559	mediastinal cancer		A mediastinal cancer that has_material_basis_in neural cells.
http://purl.obolibrary.org/obo/DOID_4706	infratentorial cancer	http://purl.obolibrary.org/obo/DOID_1319	brain cancer		A brain cancer that is located_in the infratentorial region.
http://purl.obolibrary.org/obo/DOID_4737	somatoform disorder	http://purl.obolibrary.org/obo/DOID_150	disease of mental health		A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate.
http://purl.obolibrary.org/obo/DOID_48	male reproductive system disease	http://purl.obolibrary.org/obo/DOID_15	reproductive system disease		A reproductive system disease that affects male reproductive organs.
http://purl.obolibrary.org/obo/DOID_480	movement disease	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity.
http://purl.obolibrary.org/obo/DOID_4866	salivary gland adenoid cystic carcinoma	http://purl.obolibrary.org/obo/DOID_0050904	salivary gland carcinoma		A salivary gland carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes.
http://purl.obolibrary.org/obo/DOID_4876	trachea carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A tracheal cancer that effects the airway that leads from the larynx to the bronchi.
http://purl.obolibrary.org/obo/DOID_4906	small intestine adenocarcinoma	http://purl.obolibrary.org/obo/DOID_299	adenocarcinoma		A small intestine carcinoma that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_4939	ureter carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		An ureter cancer that is located_in the ureter.
http://purl.obolibrary.org/obo/DOID_4953	poliomyelitis	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results in destruction located in motor neurons and has_material_basis_in Human poliovirus 1, 2, or 3, serotypes of Enterovirus coxsackiepol, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom fever, has symptom sore throat, has symptom headache, has symptom vomiting, has symptom fatigue, has symptom neck stiffness, has symptom muscle spasms, and has symptom acute flaccid paralysis.
http://purl.obolibrary.org/obo/DOID_4959	epidermolysis bullosa dystrophica	http://purl.obolibrary.org/obo/DOID_2730	epidermolysis bullosa		An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen.
http://purl.obolibrary.org/obo/DOID_4960	bone marrow cancer	http://purl.obolibrary.org/obo/DOID_2531	hematologic cancer		A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow.
http://purl.obolibrary.org/obo/DOID_4972	myelodysplastic/myeloproliferative neoplasm	http://purl.obolibrary.org/obo/DOID_0070004	myeloid neoplasm		A myeloid neoplasm that results_in the overproduction of white blood cells.
http://purl.obolibrary.org/obo/DOID_4976	elephantiasis	http://purl.obolibrary.org/obo/DOID_4977	lymphedema		A lymphedema that is characterised by edema, hypertrophy, and fibrosis of skin and subcutaneous tissues, due to obstruction of lymphatic vessels resulting in the enlargement and hardening of limbs or body parts due to tissue swelling (edema).
http://purl.obolibrary.org/obo/DOID_4977	lymphedema	http://purl.obolibrary.org/obo/DOID_75	lymphatic system disease		A lymphatic system disease that is characterized by the abnormal accumulation of lymph fluid in the body's tissues, leading to swelling.
http://purl.obolibrary.org/obo/DOID_50	thyroid gland disease	http://purl.obolibrary.org/obo/DOID_28	endocrine system disease		An endocrine system disease that is located_in the thyroid.
http://purl.obolibrary.org/obo/DOID_5032	pineal gland cancer	http://purl.obolibrary.org/obo/DOID_170	endocrine gland cancer		An endocrine gland located_in the pineal gland located in the brain.
http://purl.obolibrary.org/obo/DOID_5041	esophageal cancer	http://purl.obolibrary.org/obo/DOID_6050	esophageal disease		A gastrointestinal system cancer that is located_in the esophagus.
http://purl.obolibrary.org/obo/DOID_5093	thoracic cancer	http://purl.obolibrary.org/obo/DOID_0060118	thoracic disease		An organ system cancer located_in the thoracic cavity that develops in the different types of cells within the lungs, as well as less common cancers of the esophagus, the trachea, or the chest wall.
http://purl.obolibrary.org/obo/DOID_5113	nutritional deficiency disease	http://purl.obolibrary.org/obo/DOID_374	nutrition disease		A nutrition disease that is characterized by deficiency of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content.
http://purl.obolibrary.org/obo/DOID_5119	ovarian cyst	http://purl.obolibrary.org/obo/DOID_1100	ovarian disease		An ovarian disease that is characterized by the presence of a fluid-filled sac and is located_in the ovary.
http://purl.obolibrary.org/obo/DOID_5127	bizarre leiomyoma	http://purl.obolibrary.org/obo/DOID_127	leiomyoma		A leiomyoma that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures.
http://purl.obolibrary.org/obo/DOID_5143	large bowel leiomyoma	http://purl.obolibrary.org/obo/DOID_4610	intestinal benign neoplasm		An intestinal benign neoplasm that derives_from smooth muscle cells and that is located_in the large bowel.
http://purl.obolibrary.org/obo/DOID_5158	pleural cancer	http://purl.obolibrary.org/obo/DOID_201	connective tissue cancer		A connective tissue cancer that located_in the pleura.
http://purl.obolibrary.org/obo/DOID_520	aortic disease	http://purl.obolibrary.org/obo/DOID_0050828	artery disease		An artery disease that is characterized by degeneration of the cells composing the aortic wall.
http://purl.obolibrary.org/obo/DOID_5212	congenital disorder of glycosylation	http://purl.obolibrary.org/obo/DOID_2978	carbohydrate metabolic disorder		A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids.
http://purl.obolibrary.org/obo/DOID_525	central nervous system vasculitis	http://purl.obolibrary.org/obo/DOID_865	vasculitis		A vasculitis that is characterized by inflammation of blood vessel walls in the brain or spine.
http://purl.obolibrary.org/obo/DOID_5295	intestinal disease	http://purl.obolibrary.org/obo/DOID_77	gastrointestinal system disease		A gastrointestinal system disease that is located_in the intestine.
http://purl.obolibrary.org/obo/DOID_53	pituitary gland disease	http://purl.obolibrary.org/obo/DOID_28	endocrine system disease		An endocrine system disease that is located_in the pituitary gland.
http://purl.obolibrary.org/obo/DOID_530	eyelid disease	http://purl.obolibrary.org/obo/DOID_37	skin disease		An adnexa disease that is located_in the eyelid.
http://purl.obolibrary.org/obo/DOID_5330	dental pulp disease	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A tooth disease located_in dental pulp.
http://purl.obolibrary.org/obo/DOID_535	sleep disorder	http://purl.obolibrary.org/obo/DOID_150	disease of mental health		A disease of mental health that involves disruption of sleep patterns.
http://purl.obolibrary.org/obo/DOID_5353	colonic disease	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		A intestinal disease located in the colon.
http://purl.obolibrary.org/obo/DOID_540	strabismus	http://purl.obolibrary.org/obo/DOID_1279	ocular motility disease		A hyperopia that is characterized by eyes that do not properly align with each other when looking at an object.
http://purl.obolibrary.org/obo/DOID_5409	lung small cell carcinoma	http://purl.obolibrary.org/obo/DOID_3905	lung carcinoma		A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.
http://purl.obolibrary.org/obo/DOID_5419	schizophrenia	http://purl.obolibrary.org/obo/DOID_2468	psychotic disorder		A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.
http://purl.obolibrary.org/obo/DOID_5421	lung combined type small cell carcinoma	http://purl.obolibrary.org/obo/DOID_5409	lung small cell carcinoma		A lung small cell carcinoma that is characterized as a multiphasic lung cancer comprised of a mixture of small cell and non-small cell lung carcinoma cells.
http://purl.obolibrary.org/obo/DOID_543	dystonia	http://purl.obolibrary.org/obo/DOID_480	movement disease		A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements.
http://purl.obolibrary.org/obo/DOID_5502	lice infestation	http://purl.obolibrary.org/obo/DOID_4110	parasitic ectoparasitic infectious disease		A parasitic ectoparasitic infectious disease that involves infestation of lice, which are blood-feeding ectoparasitic insects of the order Phthiraptera.
http://purl.obolibrary.org/obo/DOID_552	pneumonia	http://purl.obolibrary.org/obo/DOID_850	lung disease		A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.
http://purl.obolibrary.org/obo/DOID_557	kidney disease	http://purl.obolibrary.org/obo/DOID_18	urinary system disease		A urinary system disease that is located_in the kidney.
http://purl.obolibrary.org/obo/DOID_5604	adult acute lymphocytic leukemia	http://purl.obolibrary.org/obo/DOID_9952	acute lymphoblastic leukemia		An acute lymphocytic leukemia occurring during adulthood.
http://purl.obolibrary.org/obo/DOID_5612	spinal cancer	http://purl.obolibrary.org/obo/DOID_3620	central nervous system cancer		A central nervous system cancer that is located_in the spinal cord. It is mostly formed from metastases from primary cancers elsewhere (commonly breast, prostate, and lung cancer).
http://purl.obolibrary.org/obo/DOID_5614	eye disease	http://purl.obolibrary.org/obo/DOID_0050155	sensory system disease		An eye and adnexa disease that is located_in the eye.
http://purl.obolibrary.org/obo/DOID_5656	cranial nerve disease	http://purl.obolibrary.org/obo/DOID_870	neuropathy		A neuropathy that is located_in one of the twelve cranial nerves.
http://purl.obolibrary.org/obo/DOID_5672	large intestine cancer	http://purl.obolibrary.org/obo/DOID_10155	intestinal cancer		An intestinal cancer that effects the long, tube-like organ that is connected to the small intestine at one end and the anus at the other.
http://purl.obolibrary.org/obo/DOID_5679	retinal disease	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye disease that is located_in the retina.
http://purl.obolibrary.org/obo/DOID_5719	adrenal medulla cancer	http://purl.obolibrary.org/obo/DOID_3953	adrenal gland cancer		An adrenal gland cancer that is located_in the adrenal medulla.
http://purl.obolibrary.org/obo/DOID_5723	optic atrophy	http://purl.obolibrary.org/obo/DOID_1891	optic nerve disease		An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve.
http://purl.obolibrary.org/obo/DOID_5733	salpingitis	http://purl.obolibrary.org/obo/DOID_1962	fallopian tube disease		A fallopian tube disease that is characterized by inflammation of the fallopian tube.
http://purl.obolibrary.org/obo/DOID_574	peripheral nervous system disease	http://purl.obolibrary.org/obo/DOID_863	nervous system disease		A nervous system disease that affects the peripheral nervous system.
http://purl.obolibrary.org/obo/DOID_5772	central nervous system hematologic cancer	http://purl.obolibrary.org/obo/DOID_3620	central nervous system cancer		A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system.
http://purl.obolibrary.org/obo/DOID_583	hemolytic anemia	http://purl.obolibrary.org/obo/DOID_720	normocytic anemia		A normocytic anemia that is characterized by the rate of descruction of red blood cells exceeding the rate than they can be made.
http://purl.obolibrary.org/obo/DOID_5875	retroperitoneal cancer	http://purl.obolibrary.org/obo/DOID_5093	thoracic cancer		A thoracic cancer located_in the retroperitoneal space in the abdominal cavity behind the peritoneum.
http://purl.obolibrary.org/obo/DOID_591	phobic disorder	http://purl.obolibrary.org/obo/DOID_2030	anxiety disorder		An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation.
http://purl.obolibrary.org/obo/DOID_599	specific phobia	http://purl.obolibrary.org/obo/DOID_591	phobic disorder		A phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations.
http://purl.obolibrary.org/obo/DOID_5997	non-proliferative fibrocystic change of the breast	http://purl.obolibrary.org/obo/DOID_10354	breast fibrocystic disease		A breast fibrocystic disease that is characterized by the absence of epithelial cell hyperplasia.
http://purl.obolibrary.org/obo/DOID_6000	congestive heart failure	http://purl.obolibrary.org/obo/DOID_114	heart disease		A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.
http://purl.obolibrary.org/obo/DOID_6025	selective immunoglobulin deficiency disease	http://purl.obolibrary.org/obo/DOID_2115	B cell deficiency		A B cell deficiency that is characterized by deficiency of an immunoglobulin subtype. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity.
http://purl.obolibrary.org/obo/DOID_6050	esophageal disease	http://purl.obolibrary.org/obo/DOID_77	gastrointestinal system disease		A gastrointestinal system disease that is located_in the esophagus.
http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease	http://purl.obolibrary.org/obo/DOID_2914	immune system disease		An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.
http://purl.obolibrary.org/obo/DOID_615	leukopenia	http://purl.obolibrary.org/obo/DOID_9500	leukocyte disease		A leukocyte disorder that is characterized by a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection.
http://purl.obolibrary.org/obo/DOID_6195	conjunctivitis	http://purl.obolibrary.org/obo/DOID_4251	conjunctival disease		A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids.
http://purl.obolibrary.org/obo/DOID_62	aortic valve disease	http://purl.obolibrary.org/obo/DOID_520	aortic disease		A heart valve disease that is located_in the aortic valve.
http://purl.obolibrary.org/obo/DOID_6227	articular cartilage disease	http://purl.obolibrary.org/obo/DOID_1222	cartilage disease		A cartilage disease that is characterized by damage to the cartilage that covers the ends of the bones.
http://purl.obolibrary.org/obo/DOID_626	complement deficiency	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation.
http://purl.obolibrary.org/obo/DOID_627	severe combined immunodeficiency	http://purl.obolibrary.org/obo/DOID_0111962	combined immunodeficiency		A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems.
http://purl.obolibrary.org/obo/DOID_628	combined T cell and B cell immunodeficiency	http://purl.obolibrary.org/obo/DOID_0111962	combined immunodeficiency		A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity.
http://purl.obolibrary.org/obo/DOID_6293	central nervous system lipoma	http://purl.obolibrary.org/obo/DOID_3315	lipoma		A central nervous system benign neoplasm that derives_from fat cells.
http://purl.obolibrary.org/obo/DOID_630	genetic disease	http://purl.obolibrary.org/obo/DOID_4	disease		A disease that has_material_basis_in genetic variations in the human genome.
http://purl.obolibrary.org/obo/DOID_631	fibromyalgia	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression.
http://purl.obolibrary.org/obo/DOID_633	myositis	http://purl.obolibrary.org/obo/DOID_423	myopathy		A myopathy characterized by muscle inflammation.
http://purl.obolibrary.org/obo/DOID_6364	migraine	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing.
http://purl.obolibrary.org/obo/DOID_639	acute disseminated encephalomyelitis	http://purl.obolibrary.org/obo/DOID_640	encephalomyelitis		An encephalomyelitis characterized by inflammation located in brain and located in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection.
http://purl.obolibrary.org/obo/DOID_6432	pulmonary hypertension	http://purl.obolibrary.org/obo/DOID_10763	hypertension		A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.
http://purl.obolibrary.org/obo/DOID_646	viral encephalitis	http://purl.obolibrary.org/obo/DOID_9588	encephalitis		An encephalitis that involves inflammation of the brain caused by viral infection.
http://purl.obolibrary.org/obo/DOID_6460	large intestine lipoma	http://purl.obolibrary.org/obo/DOID_4610	intestinal benign neoplasm		An intestinal benign neoplasm that derives_from fat cells and that is located_in the large intestine.
http://purl.obolibrary.org/obo/DOID_649	prion disease	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins.
http://purl.obolibrary.org/obo/DOID_65	connective tissue disease	http://purl.obolibrary.org/obo/DOID_17	musculoskeletal system disease		A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage.
http://purl.obolibrary.org/obo/DOID_653	purine-pyrimidine metabolic disorder	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism.
http://purl.obolibrary.org/obo/DOID_654	overnutrition	http://purl.obolibrary.org/obo/DOID_374	nutrition disease		A nutrition disease that is characterized by an excess of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content.
http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder	http://purl.obolibrary.org/obo/DOID_630	genetic disease		A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
http://purl.obolibrary.org/obo/DOID_656	adrenal adenoma	http://purl.obolibrary.org/obo/DOID_9553	adrenal gland disease		An endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland.
http://purl.obolibrary.org/obo/DOID_657	adenoma	http://purl.obolibrary.org/obo/DOID_0060084	cell type benign neoplasm		A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.
http://purl.obolibrary.org/obo/DOID_66	muscle tissue disease	http://purl.obolibrary.org/obo/DOID_0080000	muscular disease		A muscular disease located in the muscle tissue.
http://purl.obolibrary.org/obo/DOID_6688	autoimmune lymphoproliferative syndrome	http://purl.obolibrary.org/obo/DOID_2916	hypersensitivity reaction type IV disease		A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen.
http://purl.obolibrary.org/obo/DOID_6713	cerebrovascular disease	http://purl.obolibrary.org/obo/DOID_936	brain disease		An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.
http://purl.obolibrary.org/obo/DOID_672	spleen cancer	http://purl.obolibrary.org/obo/DOID_2529	splenic disease		A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen.
http://purl.obolibrary.org/obo/DOID_674	cleft palate	http://purl.obolibrary.org/obo/DOID_0050567	orofacial cleft		An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate.
http://purl.obolibrary.org/obo/DOID_679	basal ganglia disease	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease that is characterized by dysfunctional movement, located_in basal ganglia that has_material_basis_in diseased components of the basal ganglia and associated neural circuits.
http://purl.obolibrary.org/obo/DOID_680	tauopathy	http://purl.obolibrary.org/obo/DOID_1289	neurodegenerative disease		A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain.
http://purl.obolibrary.org/obo/DOID_699	mitochondrial myopathy	http://purl.obolibrary.org/obo/DOID_423	myopathy		A myopathy that is characterized by mitochondrial dysfunction.
http://purl.obolibrary.org/obo/DOID_7	disease of anatomical entity	http://purl.obolibrary.org/obo/DOID_4	disease		A disease that manifests in a defined anatomical structure.
http://purl.obolibrary.org/obo/DOID_700	mitochondrial metabolism disease	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.
http://purl.obolibrary.org/obo/DOID_707	B-cell lymphoma	http://purl.obolibrary.org/obo/DOID_0060060	non-Hodgkin lymphoma		A non-Hodgkin lymphoma that has_material_basis_in B cells.
http://purl.obolibrary.org/obo/DOID_731	urinary system benign neoplasm	http://purl.obolibrary.org/obo/DOID_18	urinary system disease		An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra.
http://purl.obolibrary.org/obo/DOID_732	urethral disease	http://purl.obolibrary.org/obo/DOID_18	urinary system disease		A urinary system disease that is located_in the urethra.
http://purl.obolibrary.org/obo/DOID_74	hematopoietic system disease	http://purl.obolibrary.org/obo/DOID_7	disease of anatomical entity		A disease of anatomical entity that has_material_basis_in hematopoietic cells.
http://purl.obolibrary.org/obo/DOID_7427	anthrax disease	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath.
http://purl.obolibrary.org/obo/DOID_7475	diverticulitis	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall.
http://purl.obolibrary.org/obo/DOID_75	lymphatic system disease	http://purl.obolibrary.org/obo/DOID_2914	immune system disease		An immune system disease that is located_in the lymphatic system.
http://purl.obolibrary.org/obo/DOID_7519	endocervical carcinoma	http://purl.obolibrary.org/obo/DOID_2893	cervix carcinoma		A cervix carcinoma that is located_in the endocervix.
http://purl.obolibrary.org/obo/DOID_7551	gonorrhea	http://purl.obolibrary.org/obo/DOID_1962	fallopian tube disease		A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods.
http://purl.obolibrary.org/obo/DOID_76	stomach disease	http://purl.obolibrary.org/obo/DOID_77	gastrointestinal system disease		A gastrointestinal system disease that is located_in the stomach.
http://purl.obolibrary.org/obo/DOID_769	neuroblastoma	http://purl.obolibrary.org/obo/DOID_2621	autonomic nervous system neoplasm		An autonomic nervous system neoplasm that derives_from immature nerve cells.
http://purl.obolibrary.org/obo/DOID_77	gastrointestinal system disease	http://purl.obolibrary.org/obo/DOID_7	disease of anatomical entity		A disease of anatomical entity that is located_in the gastrointestinal tract.
http://purl.obolibrary.org/obo/DOID_780	placenta disease	http://purl.obolibrary.org/obo/DOID_345	uterine disease		A uterine disease that is located_in the placenta.
http://purl.obolibrary.org/obo/DOID_7997	thyrotoxicosis	http://purl.obolibrary.org/obo/DOID_50	thyroid gland disease		A thyroid gland disease that is characterized by excess thyroid hormone.
http://purl.obolibrary.org/obo/DOID_7998	hyperthyroidism	http://purl.obolibrary.org/obo/DOID_50	thyroid gland disease		A thyroid gland disease that involves an over production of thyroid hormone.
http://purl.obolibrary.org/obo/DOID_811	lipodystrophy	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue.
http://purl.obolibrary.org/obo/DOID_8125	osteochondrosis	http://purl.obolibrary.org/obo/DOID_0080008	ischemic bone disease		An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone.
http://purl.obolibrary.org/obo/DOID_8200	tertiary syphilis	http://purl.obolibrary.org/obo/DOID_4166	syphilis		A syphilis that is characterized as the third stage of syphilis that develops after the disappearance of the secondary symptoms and is marked by ulcers and gummas under the skin and commonly by involvement of the skeletal, cardiovascular, and nervous systems.
http://purl.obolibrary.org/obo/DOID_8283	peritonitis	http://purl.obolibrary.org/obo/DOID_77	gastrointestinal system disease		A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.
http://purl.obolibrary.org/obo/DOID_8295	scabies	http://purl.obolibrary.org/obo/DOID_7894	mite infestation		A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades.
http://purl.obolibrary.org/obo/DOID_83	cataract	http://purl.obolibrary.org/obo/DOID_110	lens disease		A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.
http://purl.obolibrary.org/obo/DOID_841	extrinsic allergic alveolitis	http://purl.obolibrary.org/obo/DOID_3082	interstitial lung disease		An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.
http://purl.obolibrary.org/obo/DOID_8432	polycythemia	http://purl.obolibrary.org/obo/DOID_4961	bone marrow disease		A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow.
http://purl.obolibrary.org/obo/DOID_8466	retinal degeneration	http://purl.obolibrary.org/obo/DOID_9799	eye degenerative disease		A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.
http://purl.obolibrary.org/obo/DOID_8469	influenza	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results in infection, located in respiratory tract, has_material_basis_in Influenzavirus A (Alphainfluenzavirus), has_material_basis_in Influenzavirus B (Betainfluenzavirus), or has_material_basis_in Influenzavirus C (Gammainfluenzavirus), which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness.
http://purl.obolibrary.org/obo/DOID_848	arthritis	http://purl.obolibrary.org/obo/DOID_3342	bone inflammation disease		A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint.
http://purl.obolibrary.org/obo/DOID_8499	night blindness	http://purl.obolibrary.org/obo/DOID_5679	retinal disease		A retinal disease that is characterized by difficulty or the inability to see in relatively low light.
http://purl.obolibrary.org/obo/DOID_850	lung disease	http://purl.obolibrary.org/obo/DOID_0050161	lower respiratory tract disease		A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.
http://purl.obolibrary.org/obo/DOID_8502	bullous skin disease	http://purl.obolibrary.org/obo/DOID_2723	dermatitis		A dermatitis that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested.
http://purl.obolibrary.org/obo/DOID_8504	impetigo	http://purl.obolibrary.org/obo/DOID_4223	pyoderma		A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous.
http://purl.obolibrary.org/obo/DOID_8515	Cor pulmonale	http://purl.obolibrary.org/obo/DOID_6000	congestive heart failure		A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs.
http://purl.obolibrary.org/obo/DOID_854	collagen disease	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen.
http://purl.obolibrary.org/obo/DOID_8552	chronic myeloid leukemia	http://purl.obolibrary.org/obo/DOID_8692	myeloid leukemia		A myeloid leukemia that is characterized by over production of white blood cells.
http://purl.obolibrary.org/obo/DOID_8618	oral cavity cancer	http://purl.obolibrary.org/obo/DOID_403	mouth disease		A gastrointestinal system cancer that is located_in the oral cavity.
http://purl.obolibrary.org/obo/DOID_8619	recurrent hypersomnia	http://purl.obolibrary.org/obo/DOID_535	sleep disorder		A sleep disorder that involves recurring bouts of excessive amounts of sleepiness.
http://purl.obolibrary.org/obo/DOID_863	nervous system disease	http://purl.obolibrary.org/obo/DOID_7	disease of anatomical entity		A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.
http://purl.obolibrary.org/obo/DOID_865	vasculitis	http://purl.obolibrary.org/obo/DOID_178	vascular disease		A vascular disease that is characterized by inflammation of the blood vessels.
http://purl.obolibrary.org/obo/DOID_866	vein disease	http://purl.obolibrary.org/obo/DOID_178	vascular disease		A vascular disease that is located_in a vein.
http://purl.obolibrary.org/obo/DOID_8670	eating disorder	http://purl.obolibrary.org/obo/DOID_150	disease of mental health		A disease of mental health that is characterized by abnormal eating habits that may involve either insufficient or excessive food intake to the detriment of an individual's physical and emotional health.
http://purl.obolibrary.org/obo/DOID_869	cholesteatoma	http://purl.obolibrary.org/obo/DOID_161	keratosis		A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction.
http://purl.obolibrary.org/obo/DOID_870	neuropathy	http://purl.obolibrary.org/obo/DOID_574	peripheral nervous system disease		A nervous system disease that is located_in nerves or nerve cells.
http://purl.obolibrary.org/obo/DOID_8719	in situ carcinoma	http://purl.obolibrary.org/obo/DOID_0060071	pre-malignant neoplasm		A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.
http://purl.obolibrary.org/obo/DOID_8736	smallpox	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that results in infection located in skin, has_material_basis_in Variola virus (Orthopoxvirus variola), which is transmitted by droplets from oral, nasal or pharyngeal mucosa, transmitted by contact with the body fluids, or transmitted by fomites. The infection results in formation of lesions, first on the face, hands and forearms and later on the trunk.
http://purl.obolibrary.org/obo/DOID_874	bacterial pneumonia	http://purl.obolibrary.org/obo/DOID_552	pneumonia		A pneumonia involving inflammation of the lungs caused by bacteria.
http://purl.obolibrary.org/obo/DOID_8778	Crohn's disease	http://purl.obolibrary.org/obo/DOID_0050589	inflammatory bowel disease		An intestinal disease that involves inflammation located_in intestine.
http://purl.obolibrary.org/obo/DOID_8791	breast carcinoma in situ	http://purl.obolibrary.org/obo/DOID_8719	in situ carcinoma		An in situ carcinoma that is located_in the breast.
http://purl.obolibrary.org/obo/DOID_883	parasitic helminthiasis infectious disease	http://purl.obolibrary.org/obo/DOID_1398	parasitic infectious disease		A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes.
http://purl.obolibrary.org/obo/DOID_8849	sublingual gland cancer	http://purl.obolibrary.org/obo/DOID_8850	salivary gland cancer		A salivary gland cancer that is located_in the sublingual gland.
http://purl.obolibrary.org/obo/DOID_8850	salivary gland cancer	http://purl.obolibrary.org/obo/DOID_8618	oral cavity cancer		An oral cavity cancer that is located_in the salivary gland.
http://purl.obolibrary.org/obo/DOID_8857	lupus erythematosus	http://purl.obolibrary.org/obo/DOID_0060032	autoimmune disease of musculoskeletal system		An autoimmune disease that is characterized by a constellation of findings that include elevated antibodies to nuclear antigens, antiphospholipids, low complement levels, ulcers, non-scarring alopecia, renal or neurologic damage, and low white blood cell and platelet counts, has_symptom rashes, fatigue, arthritis, hair loss, seizures, and symptoms related to affected organs.
http://purl.obolibrary.org/obo/DOID_8864	acute monocytic leukemia	http://purl.obolibrary.org/obo/DOID_8527	monocytic leukemia		A monocytic leukemia where the majority of monocytic cells are promonocytes.
http://purl.obolibrary.org/obo/DOID_8913	dermatophytosis	http://purl.obolibrary.org/obo/DOID_0050134	cutaneous mycosis		A cutaneous mycosis that results_in fungal infection located_in scalp, located_in glabrous skin, or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which have the ability to utilize keratin as a nutrient source. Subtypes are classified by the location on the body.
http://purl.obolibrary.org/obo/DOID_8923	skin melanoma	http://purl.obolibrary.org/obo/DOID_4159	skin cancer		A skin cancer that has_material_basis_in melanocytes.
http://purl.obolibrary.org/obo/DOID_8927	learning disability	http://purl.obolibrary.org/obo/DOID_0060038	specific developmental disorder		A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information.
http://purl.obolibrary.org/obo/DOID_8955	sideroblastic anemia	http://purl.obolibrary.org/obo/DOID_11252	microcytic anemia		A microcytic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).
http://purl.obolibrary.org/obo/DOID_896	metal metabolism disorder	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.
http://purl.obolibrary.org/obo/DOID_898	autosomal dominant polycystic kidney disease	http://purl.obolibrary.org/obo/DOID_0080322	polycystic kidney disease		A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.
http://purl.obolibrary.org/obo/DOID_9036	parotid gland cancer	http://purl.obolibrary.org/obo/DOID_8850	salivary gland cancer		A salivary gland cancer that is located_in the parotid gland.
http://purl.obolibrary.org/obo/DOID_906	peroxisomal disease	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		An inherited metabolic disorder that involves peroxisome malfunction.
http://purl.obolibrary.org/obo/DOID_9113	granuloma inguinale	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers.
http://purl.obolibrary.org/obo/DOID_9119	acute myeloid leukemia	http://purl.obolibrary.org/obo/DOID_8692	myeloid leukemia		A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.
http://purl.obolibrary.org/obo/DOID_9120	amyloidosis	http://purl.obolibrary.org/obo/DOID_0014667	disease of metabolism		A disease of metabolism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition.
http://purl.obolibrary.org/obo/DOID_913	atrophic muscular disease	http://purl.obolibrary.org/obo/DOID_440	neuromuscular disease		A neuromuscular disease that is characterized by an abnormal reduction in the muscle volume and atrophy.
http://purl.obolibrary.org/obo/DOID_9182	pemphigus	http://purl.obolibrary.org/obo/DOID_8502	bullous skin disease		An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured.
http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.
http://purl.obolibrary.org/obo/DOID_9256	colorectal cancer	http://purl.obolibrary.org/obo/DOID_5672	large intestine cancer		A large intestine cancer that is located_in the colon and/or located_in the rectum.
http://purl.obolibrary.org/obo/DOID_9265	histidine metabolism disease	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder that involves deficiency in histidine.
http://purl.obolibrary.org/obo/DOID_9275	tyrosinemia	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine.
http://purl.obolibrary.org/obo/DOID_9283	borderline glaucoma	http://purl.obolibrary.org/obo/DOID_1686	glaucoma		A glaucoma characterized by clinical features and risk factors that are associated with high likelihood to developing optic atrophy secondary to glaucoma in the future. These features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy.
http://purl.obolibrary.org/obo/DOID_9297	lip disease	http://purl.obolibrary.org/obo/DOID_403	mouth disease		A mouth disease located_in the lip.
http://purl.obolibrary.org/obo/DOID_93	language disorder	http://purl.obolibrary.org/obo/DOID_2033	communication disorder		A communication disorder that involves the processing of linguistic information.
http://purl.obolibrary.org/obo/DOID_930	orbital disease	http://purl.obolibrary.org/obo/DOID_0080001	bone disease		An adnexa disease that is located_in the eye socket.
http://purl.obolibrary.org/obo/DOID_934	viral infectious disease	http://purl.obolibrary.org/obo/DOID_0050117	disease by infectious agent		A disease by infectious agent that results in infection, has_material_basis_in Viruses.
http://purl.obolibrary.org/obo/DOID_9351	diabetes mellitus	http://purl.obolibrary.org/obo/DOID_4194	glucose metabolism disease		A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.
http://purl.obolibrary.org/obo/DOID_9352	type 2 diabetes mellitus	http://purl.obolibrary.org/obo/DOID_9351	diabetes mellitus		A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.
http://purl.obolibrary.org/obo/DOID_936	brain disease	http://purl.obolibrary.org/obo/DOID_331	central nervous system disease		A central nervous system disease that is located_in the brain.
http://purl.obolibrary.org/obo/DOID_9406	hypopituitarism	http://purl.obolibrary.org/obo/DOID_53	pituitary gland disease		A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland.
http://purl.obolibrary.org/obo/DOID_9409	diabetes insipidus	http://purl.obolibrary.org/obo/DOID_557	kidney disease		A kidney disease that is characterized by polydipsia and polyuria with a dilute urine having a specific gravity less than 1.010, hypernatremia, and dehydration.
http://purl.obolibrary.org/obo/DOID_9423	blepharitis	http://purl.obolibrary.org/obo/DOID_530	eyelid disease		An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow.
http://purl.obolibrary.org/obo/DOID_9428	intracranial hypertension	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease that is characterized by high pressure inside the skull, the brain tissue and cerebrospinal fluid, has_symptom headache, has_symptom vomiting, has_symptom altered mental status, has_symptom papilledema.
http://purl.obolibrary.org/obo/DOID_9446	cholangitis	http://purl.obolibrary.org/obo/DOID_4138	bile duct disease		A bile duct disease that is an inflammation of the bile duct.
http://purl.obolibrary.org/obo/DOID_9455	lipid storage disease	http://purl.obolibrary.org/obo/DOID_3211	lysosomal storage disease		A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues.
http://purl.obolibrary.org/obo/DOID_9460	uterine corpus cancer	http://purl.obolibrary.org/obo/DOID_363	uterine cancer		A uterine cancer that is located_in the uterine corpus.
http://purl.obolibrary.org/obo/DOID_9463	otitis externa	http://purl.obolibrary.org/obo/DOID_379	external ear disease		An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infections.
http://purl.obolibrary.org/obo/DOID_9470	bacterial meningitis	http://purl.obolibrary.org/obo/DOID_9471	meningitis		A meningitis that has_material_basis_in a bacterial infection.
http://purl.obolibrary.org/obo/DOID_9471	meningitis	http://purl.obolibrary.org/obo/DOID_331	central nervous system disease		A central nervous system disease that is characterized by an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells.
http://purl.obolibrary.org/obo/DOID_9500	leukocyte disease	http://purl.obolibrary.org/obo/DOID_74	hematopoietic system disease		A hematopoietic system disease that is located_in white blood cells.
http://purl.obolibrary.org/obo/DOID_9553	adrenal gland disease	http://purl.obolibrary.org/obo/DOID_28	endocrine system disease		An endocrine system disease that is located_in the adrenal gland.
http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia	http://purl.obolibrary.org/obo/DOID_0060340	ciliopathy		A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube.
http://purl.obolibrary.org/obo/DOID_9588	encephalitis	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms.
http://purl.obolibrary.org/obo/DOID_9590	lower urinary tract calculus	http://purl.obolibrary.org/obo/DOID_18	urinary system disease		A urinary system disease that is located_in the lower urinary tract and is characterized by the formation of a stone.
http://purl.obolibrary.org/obo/DOID_963	episodic ataxia	http://purl.obolibrary.org/obo/DOID_0050951	hereditary ataxia		A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement.
http://purl.obolibrary.org/obo/DOID_9637	stomatitis	http://purl.obolibrary.org/obo/DOID_9297	lip disease		A mouth disease that is characterized by inflammation of the mouth and lips.
http://purl.obolibrary.org/obo/DOID_9669	senile cataract	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging.
http://purl.obolibrary.org/obo/DOID_9675	pulmonary emphysema	http://purl.obolibrary.org/obo/DOID_3083	chronic obstructive pulmonary disease		A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.
http://purl.obolibrary.org/obo/DOID_970	tenosynovitis	http://purl.obolibrary.org/obo/DOID_971	tendinitis		An arthropathy that is characterized as an inflammation of the lining of the sheath that surrounds a tendon.
http://purl.obolibrary.org/obo/DOID_9720	vitreous disease	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye and adnexa disease that is located in the vitreous of the eye.
http://purl.obolibrary.org/obo/DOID_9739	eustachian tube disease	http://purl.obolibrary.org/obo/DOID_11180	non-suppurative otitis media		A non-suppurative otitis media and eustachian tube disorder in which the tube is either too narrow or too wide. It can also be caused by nasal inflammation which leads to inflammatory swelling and obstruction of the eustachian tube, which, in turn, leads to increased negative pressure in the middle ear and improper ventilation.
http://purl.obolibrary.org/obo/DOID_974	upper respiratory tract disease	http://purl.obolibrary.org/obo/DOID_1579	respiratory system disease		A respiratory system disease which involves the upper respiratory tract.
http://purl.obolibrary.org/obo/DOID_9741	biliary tract disease	http://purl.obolibrary.org/obo/DOID_3118	hepatobiliary disease		A hepatobiliary disease that is located_in the biliary tract.
http://purl.obolibrary.org/obo/DOID_9742	pelvic varices	http://purl.obolibrary.org/obo/DOID_799	varicose veins		A varicose veins that is located_in the pelvis.
http://purl.obolibrary.org/obo/DOID_9744	type 1 diabetes mellitus	http://purl.obolibrary.org/obo/DOID_9351	diabetes mellitus		A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.
http://purl.obolibrary.org/obo/DOID_9809	hypersensitivity vasculitis	http://purl.obolibrary.org/obo/DOID_1557	hypersensitivity reaction type III disease		A hypersensitivity reaction type III disease that is characterized by inflammation and injury to blood vessels and has_symptom purpura, telangiectasia, blistering, urticaria, and ulcers.
http://purl.obolibrary.org/obo/DOID_9840	esotropia	http://purl.obolibrary.org/obo/DOID_540	strabismus		A strabismus that is characterized the eye which turns inward toward the nose.
http://purl.obolibrary.org/obo/DOID_9847	peripheral vertigo	http://purl.obolibrary.org/obo/DOID_3426	vestibular disease		A vestibular disease that is characterized by a sensation of motion or spinning that is often described as dizziness due to a problem in the part of the inner ear that controls balance.
http://purl.obolibrary.org/obo/DOID_9849	Meniere's disease	http://purl.obolibrary.org/obo/DOID_9848	endolymphatic hydrops		A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss.
http://purl.obolibrary.org/obo/DOID_9856	congenital syphilis	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		A syphilis that results_in a multisystem infection in the fetus via the placenta.
http://purl.obolibrary.org/obo/DOID_9857	interstitial keratitis	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A connective tissue disease characterized by corneal scarring that develops from non-suppurative inflammation located_in the corneal stroma, has_symptom visual acuity loss, has_symptom pain, and has_symptom lacrimation.
http://purl.obolibrary.org/obo/DOID_986	alopecia areata	http://purl.obolibrary.org/obo/DOID_0060039	autoimmune disease of skin and connective tissue		An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots.
http://purl.obolibrary.org/obo/DOID_987	alopecia	http://purl.obolibrary.org/obo/DOID_4535	hypotrichosis		A hypotrichosis that is characterized by a loss of hair from the head or body.
http://purl.obolibrary.org/obo/DOID_9870	galactosemia	http://purl.obolibrary.org/obo/DOID_2978	carbohydrate metabolic disorder		A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.
http://purl.obolibrary.org/obo/DOID_9884	muscular dystrophy	http://purl.obolibrary.org/obo/DOID_423	myopathy		A myopathy is characterized by progressive skeletal muscle weakness degeneration.
http://purl.obolibrary.org/obo/DOID_9938	dacryocystitis	http://purl.obolibrary.org/obo/DOID_6970	acute inflammation of lacrimal passage		An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal sac, has_symptom conjunctivitis and has_symptom purulent discharge.
http://purl.obolibrary.org/obo/DOID_9952	acute lymphoblastic leukemia	http://purl.obolibrary.org/obo/DOID_12603	acute leukemia		A acute leukemia that is characterized by over production of lymphoblasts.
http://purl.obolibrary.org/obo/DOID_9957	periostitis	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A connective tissue disease characterized by inflammation located_in the periosteum of the bone.
http://purl.obolibrary.org/obo/DOID_9965	toxoplasmosis	http://purl.obolibrary.org/obo/DOID_2113	coccidiosis		A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia.
http://purl.obolibrary.org/obo/DOID_9970	obesity	http://purl.obolibrary.org/obo/DOID_654	overnutrition		An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.
http://purl.obolibrary.org/obo/DOID_9973	substance dependence	http://purl.obolibrary.org/obo/DOID_303	substance-related disorder		A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance.
http://purl.obolibrary.org/obo/DOID_9988	tertiary neurosyphilis	http://purl.obolibrary.org/obo/DOID_936	brain disease		A tertiary syphilis that results in infection located in brain or located in spinal cord.
http://purl.obolibrary.org/obo/SYMP_0019152	diaphoresis	http://purl.obolibrary.org/obo/SYMP_0019175	sweaty		A sweat that is characterized by excessive sweating commonly associated with shock and other medical emergency conditions.
http://purl.obolibrary.org/obo/ExO_0000007	ecological perturbation	http://purl.obolibrary.org/obo/DISDRIV_0000000	disease driver		An exposure stressor that is a change in the distributions, abundance and relations of organisms and their interactions with the environment.
http://purl.obolibrary.org/obo/ExO_0000015	poverty	http://purl.obolibrary.org/obo/DISDRIV_0000002	socioeconomic driver		A psychosocial agent that is a situation in which the level of living of an individual, family, or group is below the standard of the community. It is often related to a specific income level.
http://purl.obolibrary.org/obo/NCIT_C28266	Mold	http://purl.obolibrary.org/obo/NCIT_C14329	Microorganism		A very large group of microscopic fungi that live on plant or animal matter. Most are filamentous organisms and produce spores that can be air-, water-, or insect-borne.
http://purl.obolibrary.org/obo/DOID_0080209	sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	http://purl.obolibrary.org/obo/DOID_8955	sideroblastic anemia		A sideroblastic anemia characterized by onset of severe sideroblastic anemia in the neonatal period or infancy, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26.
http://purl.obolibrary.org/obo/DOID_0080544	hyper IgM syndrome	http://purl.obolibrary.org/obo/DOID_2959	hyperimmunoglobulin syndrome		A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM.
http://purl.obolibrary.org/obo/DOID_0080545	hyper IgE syndrome	http://purl.obolibrary.org/obo/DOID_2959	hyperimmunoglobulin syndrome		A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs.
http://purl.obolibrary.org/obo/DOID_0111357	adermatoglyphia	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease characterized by lack of epidermal ridges on the fingers, toes, palms and soles that has_material_basis_in heterozygous mutation in the SMARCAD1 gene on chromosome 4q22.3.
http://purl.obolibrary.org/obo/DOID_0111358	Floating-Harbor syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in the SRCAP gene on chromosome 16p11.2.
http://purl.obolibrary.org/obo/DOID_0111359	large congenital melanocytic nevus	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5.
http://purl.obolibrary.org/obo/DOID_0111360	hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in the SOX18 gene on chromosome 20q13.33.
http://purl.obolibrary.org/obo/DOID_0111361	hypotrichosis-lymphedema-telangiectasia syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by onset at birth or early childhood of progressive hypotrichosis, lymphedema, and telangiectasia that has_material_basis_in homozygous or compound heterozygous mutation in the SOX18 gene on chromosome 20q13.33.
http://purl.obolibrary.org/obo/DOID_0111362	hawkinsinuria	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has_material_basis_in heterozygous mutation in HPD on chromosome 12q24.31.
http://purl.obolibrary.org/obo/DOID_0111363	Heinz body anemia	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A congenital nonspherocytic hemolytic anemia characterized by nonspherocytic hemolytic anemia of Dacie type I with Heinz bodies seen in erythrocytes after splenectomy that has_material_basis_in heterozygous mutation in the HBA1, HBA2 or HBB genes on chromosome 11p15.4, 16p13.3, and 16p13.3, respectively.
http://purl.obolibrary.org/obo/DOID_0111364	Alzheimer's disease 9	http://purl.obolibrary.org/obo/DOID_10652	Alzheimer's disease		An Alzheimer's disease that has_material_basis_in heterozygous mutation in the ABCA7 gene on chromosome 19p13.3.
http://purl.obolibrary.org/obo/DOID_0111365	benign familial hematuria	http://purl.obolibrary.org/obo/DOID_18	urinary system disease		A urinary system disease characterized by the presence of blood in the urine, thinning of the glomerular basement membrane and normal renal function that has_material_basis_in heterozygous mutation in the COL4A3 gene or the COL4A4 gene on chromosome 2q36.3.
http://purl.obolibrary.org/obo/DOID_0111366	familial hepatic adenoma	http://purl.obolibrary.org/obo/DOID_0050868	hepatocellular adenoma		A hepatocellular adenoma characterized by highly vascularized liver adenomas that has_material_basis_in homozygous or compound heterozygous mutation in the HNF1A gene on chromosome 12q24.31.
http://purl.obolibrary.org/obo/DOID_0111367	Beukes hip dysplasia	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that is characterized by bilateral dysmorphism of the proximal femur resulting in severe progressive degenerative osteoarthritis of the hip joint in early adulthood that has_material_basis_in heterozygous mutation in UFSP2 on chromosome 4q35.1.
http://purl.obolibrary.org/obo/DOID_0111368	cholesterol-ester transfer protein deficiency	http://purl.obolibrary.org/obo/DOID_3146	lipid metabolism disorder		A lipid metabolism disorder characterized by elevated levels of alpha-lipoprotein in the blood.
http://purl.obolibrary.org/obo/DOID_0111369	hyperalphalipoproteinemia 1	http://purl.obolibrary.org/obo/DOID_0111368	cholesterol-ester transfer protein deficiency		A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the CETP gene on chromosome 16q13.
http://purl.obolibrary.org/obo/DOID_0111370	apolipoprotein C-III deficiency	http://purl.obolibrary.org/obo/DOID_0111368	cholesterol-ester transfer protein deficiency		A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the APOC3 gene on chromosome 11q23.3.
http://purl.obolibrary.org/obo/DOID_0111371	isolated hyperchlorhidrosis	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the CA12 gene on chromosome 15q22.2.
http://purl.obolibrary.org/obo/DOID_0111373	familial progressive hyperpigmentation with or without hypopigmentation	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that has_material_basis_in heterozygous mutation in the KITLG gene on chromosome 12q21.32.
http://purl.obolibrary.org/obo/DOID_0111374	selective pituitary thyroid hormone resistance	http://purl.obolibrary.org/obo/DOID_7998	hyperthyroidism		A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in the THRB gene on chromosome 3p24.2.
http://purl.obolibrary.org/obo/DOID_0111375	fetal akinesia deformation sequence syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction.
http://purl.obolibrary.org/obo/DOID_0111376	fetal akinesia deformation sequence syndrome 3	http://purl.obolibrary.org/obo/DOID_0111375	fetal akinesia deformation sequence syndrome		A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3.
http://purl.obolibrary.org/obo/DOID_0111377	fetal akinesia deformation sequence syndrome 1	http://purl.obolibrary.org/obo/DOID_0111375	fetal akinesia deformation sequence syndrome		A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.3.
http://purl.obolibrary.org/obo/DOID_0111378	fetal akinesia deformation sequence syndrome 2	http://purl.obolibrary.org/obo/DOID_0111375	fetal akinesia deformation sequence syndrome		A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.2.
http://purl.obolibrary.org/obo/DOID_0111379	fetal akinesia deformation sequence syndrome 4	http://purl.obolibrary.org/obo/DOID_0111375	fetal akinesia deformation sequence syndrome		A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the NUP88 gene on chromosome 17p13.2.
http://purl.obolibrary.org/obo/DOID_0111380	solitary median maxillary central incisor	http://purl.obolibrary.org/obo/DOID_1091	tooth disease		A tooth disease characterized by single deciduous and parmanent maxillary central incisor that may be isolated or occur with a range of other systemic anomalies that has_material_basis_in heterozygous mutation in SHH on chromosome 7q36.3.
http://purl.obolibrary.org/obo/DOID_0111381	IVIC syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13.2.
http://purl.obolibrary.org/obo/DOID_0111382	ischiocoxopodopatellar syndrome	http://purl.obolibrary.org/obo/DOID_1934	dysostosis		A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in the TBX4 gene on chromosome 17q23.2.
http://purl.obolibrary.org/obo/DOID_0111383	autosomal dominant keratitis	http://purl.obolibrary.org/obo/DOID_4677	keratitis		A keratitis characterized by corneal opacification and vascularization and foveal hypoplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.
http://purl.obolibrary.org/obo/DOID_0111384	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2	http://purl.obolibrary.org/obo/DOID_0050881	inclusion body myopathy with Paget disease of bone and frontotemporal dementia		An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRPA2B1 on 7p15.2.
http://purl.obolibrary.org/obo/DOID_0111385	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1	http://purl.obolibrary.org/obo/DOID_0050881	inclusion body myopathy with Paget disease of bone and frontotemporal dementia		An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3.
http://purl.obolibrary.org/obo/DOID_0111386	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3	http://purl.obolibrary.org/obo/DOID_0050881	inclusion body myopathy with Paget disease of bone and frontotemporal dementia		An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.13.
http://purl.obolibrary.org/obo/DOID_0111387	familial isolated hypoparathyroidism	http://purl.obolibrary.org/obo/DOID_11199	hypoparathyroidism		A hypoparathyroidism characterized by by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects.
http://purl.obolibrary.org/obo/DOID_0111388	X-linked hypoparathyroidism	http://purl.obolibrary.org/obo/DOID_11199	hypoparathyroidism		A hypoparathyroidism that has_material_basis_in mutation in a region on chromosome Xq27.1 that appears to alter expression of SOX3.
http://purl.obolibrary.org/obo/DOID_0111389	mucopolysaccharidosis Ih/s	http://purl.obolibrary.org/obo/DOID_12802	mucopolysaccharidosis I		A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3.
http://purl.obolibrary.org/obo/DOID_0111390	mucopolysaccharidosis Ih	http://purl.obolibrary.org/obo/DOID_12802	mucopolysaccharidosis I		A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3.
http://purl.obolibrary.org/obo/DOID_0111391	mucopolysaccharidosis IVA	http://purl.obolibrary.org/obo/DOID_12804	mucopolysaccharidosis IV		A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the GALNS gene on chromosome 16q24.3.
http://purl.obolibrary.org/obo/DOID_0111392	mucopolysaccharidosis type IVB	http://purl.obolibrary.org/obo/DOID_12804	mucopolysaccharidosis IV		A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in the GLB1 gene on chromosome 3p22.3.
http://purl.obolibrary.org/obo/DOID_0111393	mucopolysaccharidosis type IIIC	http://purl.obolibrary.org/obo/DOID_12801	mucopolysaccharidosis III		A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1.
http://purl.obolibrary.org/obo/DOID_0111394	mucopolysaccharidosis type IIIB	http://purl.obolibrary.org/obo/DOID_12801	mucopolysaccharidosis III		A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.
http://purl.obolibrary.org/obo/DOID_0111395	mucopolysaccharidosis type IIIA	http://purl.obolibrary.org/obo/DOID_12801	mucopolysaccharidosis III		A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3.
http://purl.obolibrary.org/obo/DOID_0111396	congenital dyserythropoietic anemia type I	http://purl.obolibrary.org/obo/DOID_1338	congenital dyserythropoietic anemia		A congenital dyserythropoietic anemia characterized by autosomal recessive inheritance of macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis.
http://purl.obolibrary.org/obo/DOID_0111397	congenital dyserythropoietic anemia type Ib	http://purl.obolibrary.org/obo/DOID_0111396	congenital dyserythropoietic anemia type I		A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in the C15ORF41 gene on chromosome 15q14.
http://purl.obolibrary.org/obo/DOID_0111398	congenital dyserythropoietic anemia type Ia	http://purl.obolibrary.org/obo/DOID_0111396	congenital dyserythropoietic anemia type I		A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in the CDAN1 gene on chromosome 15q15.2.
http://purl.obolibrary.org/obo/DOID_0111399	congenital dyserythropoietic anemia type IIIa	http://purl.obolibrary.org/obo/DOID_1338	congenital dyserythropoietic anemia		A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, intravascular hemolysis, and giant multinucleated erythroblasts in the bone marrow and that has_material_basis_in heterozygous mutation in the KIF23 gene on chromosome 15q23.
http://purl.obolibrary.org/obo/DOID_0111400	congenital dyserythropoietic anemia type IVa	http://purl.obolibrary.org/obo/DOID_1338	congenital dyserythropoietic anemia		A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in the KLF1 gene on chromosome 19p13.13.
http://purl.obolibrary.org/obo/DOID_0111401	congenital dyserythropoietic anemia type II	http://purl.obolibrary.org/obo/DOID_1338	congenital dyserythropoietic anemia		A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in the SEC23B gene on chromosome 20p11.23.
http://purl.obolibrary.org/obo/DOID_0111402	mucopolysaccharidosis type IIID	http://purl.obolibrary.org/obo/DOID_12801	mucopolysaccharidosis III		A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3.
http://purl.obolibrary.org/obo/DOID_0111403	mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	http://purl.obolibrary.org/obo/DOID_0050888	syndromic intellectual disability		A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that has_material_basis_in heterozygous mutation in the MAST1 gene on chromosome 19p13.13.
http://purl.obolibrary.org/obo/DOID_0111404	Jalili syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CNNM4 on chromosome 2q11.2.
http://purl.obolibrary.org/obo/DOID_0111405	Fraser syndrome 1	http://purl.obolibrary.org/obo/DOID_0090001	Fraser syndrome		A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21.21.
http://purl.obolibrary.org/obo/DOID_0111406	Fraser syndrome 3	http://purl.obolibrary.org/obo/DOID_0090001	Fraser syndrome		A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the GRIP1 gene on chromosome 12q14.3.
http://purl.obolibrary.org/obo/DOID_0111407	Fraser syndrome 2	http://purl.obolibrary.org/obo/DOID_0090001	Fraser syndrome		A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FREM2 gene on chromosome 13q13.3.
http://purl.obolibrary.org/obo/DOID_0111408	exudative vitreoretinopathy 5	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the TSPAN12 gene on chromosome 7q31.31.
http://purl.obolibrary.org/obo/DOID_0111409	exudative vitreoretinopathy 3	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in a region on chromosome 11p13-p12.
http://purl.obolibrary.org/obo/DOID_0111410	exudative vitreoretinopathy 6	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the ZNF408 gene on chromosome 11p11.2.
http://purl.obolibrary.org/obo/DOID_0111411	exudative vitreoretinopathy 4	http://purl.obolibrary.org/obo/DOID_0050739	autosomal genetic disease		An exudative vitreoretinopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the LRP5 gene on chromosome 11q13.2.
http://purl.obolibrary.org/obo/DOID_0111412	exudative vitreoretinopathy 1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the FZD4 gene on chromosome 11q14.2.
http://purl.obolibrary.org/obo/DOID_0111413	X-linked exudative vitreoretinopathy 2	http://purl.obolibrary.org/obo/DOID_0050735	X-linked monogenic disease		An exudative vitreoretinopathy that has_material_basis_in mutation in NDP on chromosome Xp11.3.
http://purl.obolibrary.org/obo/DOID_0111414	trichohepatoenteric syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by intractable diarrhea, facial dysmorphism, immune abnormalities, and hair abnormalities in nearly all patients with liver and/or skin abnormalities seen in more than half of cases that has_material_basis_in defects in components of the SKI complex.
http://purl.obolibrary.org/obo/DOID_0111415	trichohepatoenteric syndrome 1	http://purl.obolibrary.org/obo/DOID_0111414	trichohepatoenteric syndrome		A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TTC37 gene on chromosome 5q15.
http://purl.obolibrary.org/obo/DOID_0111416	trichohepatoenteric syndrome 2	http://purl.obolibrary.org/obo/DOID_0111414	trichohepatoenteric syndrome		A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the SKIV2L gene on chromosome 6p21.33.
http://purl.obolibrary.org/obo/DOID_0111417	familial chylomicronemia syndrome	http://purl.obolibrary.org/obo/DOID_1168	familial hyperlipidemia		A familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia.
http://purl.obolibrary.org/obo/DOID_0111418	familial apolipoprotein C-II deficiency	http://purl.obolibrary.org/obo/DOID_0111417	familial chylomicronemia syndrome		A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in the APOC2 gene on chromosome 19q13.32.
http://purl.obolibrary.org/obo/DOID_0111419	familial chylomicronemia due to inhibition of lipoprotein lipase activity	http://purl.obolibrary.org/obo/DOID_0111417	familial chylomicronemia syndrome		A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, very low levels of postheparin plasma lipolytic activity, presence in the circulation of a lipoprotein lipase inhibitor, and elevated adipose levels of lipoprotien lipase.
http://purl.obolibrary.org/obo/DOID_0111420	familial GPIHBP1 deficiency	http://purl.obolibrary.org/obo/DOID_0111417	familial chylomicronemia syndrome		A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in the GPIHBP1 gene on chromosome 8q24.3.
http://purl.obolibrary.org/obo/DOID_0111421	familial apolipoprotein A5 deficiency	http://purl.obolibrary.org/obo/DOID_0111417	familial chylomicronemia syndrome		A familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased LDL and HDL levels after fasting that has_material_basis_in heterozygous mutation in the APOA5 gene on chromosome 11q23.3.
http://purl.obolibrary.org/obo/DOID_0111422	familial lipase maturation factor 1 deficiency	http://purl.obolibrary.org/obo/DOID_0111417	familial chylomicronemia syndrome		A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in the LMF1 gene on chromosome 16p13.3.
http://purl.obolibrary.org/obo/DOID_0111423	branchiootorenal syndrome 1	http://purl.obolibrary.org/obo/DOID_14702	branchiootorenal syndrome		A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the EYA1 gene on chromosome 8q13.3.
http://purl.obolibrary.org/obo/DOID_0111424	branchiootorenal syndrome 2	http://purl.obolibrary.org/obo/DOID_14702	branchiootorenal syndrome		A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the SIX5 gene on chromosome 19q13.32.
http://purl.obolibrary.org/obo/DOID_0111425	familial restrictive cardiomyopathy 1	http://purl.obolibrary.org/obo/DOID_397	restrictive cardiomyopathy		A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.42.
http://purl.obolibrary.org/obo/DOID_0111426	familial restrictive cardiomyopathy 2	http://purl.obolibrary.org/obo/DOID_397	restrictive cardiomyopathy		A restrictive cardiomyopathy that has_material_basis_in variation in a region on chromosome 10q23.3.
http://purl.obolibrary.org/obo/DOID_0111427	familial restrictive cardiomyopathy 3	http://purl.obolibrary.org/obo/DOID_397	restrictive cardiomyopathy		A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNT2 gene on chromosome 1q32.1.
http://purl.obolibrary.org/obo/DOID_0111428	essential tremor 1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An essential tremor that has_material_basis_in heterozygous mutation in the DRD3 gene on chromosome 3q13.31.
http://purl.obolibrary.org/obo/DOID_0111429	essential tremor 2	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An essential tremor that has_material_basis_in heterozygous mutation in a region on chromosome 2p25-p22.
http://purl.obolibrary.org/obo/DOID_0111430	essential tremor 3	http://purl.obolibrary.org/obo/DOID_4990	essential tremor		An essential tremor that has_material_basis_in variation in a region on chromosome 6p23.
http://purl.obolibrary.org/obo/DOID_0111431	essential tremor 4	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An essential tremor that has_material_basis_in heterozygous mutation in FUS on chromosome 16p11.2.
http://purl.obolibrary.org/obo/DOID_0111432	essential tremor 5	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An essential tremor that has_material_basis_in heterozygous mutation in the TENM4 gene on chromosome 11q14.1.
http://purl.obolibrary.org/obo/DOID_0111433	optic atrophy 3	http://purl.obolibrary.org/obo/DOID_5723	optic atrophy		An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in the OPA3 gene on chromosome 19q13.32.
http://purl.obolibrary.org/obo/DOID_0111434	optic atrophy 10	http://purl.obolibrary.org/obo/DOID_5723	optic atrophy		An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the RTN4IP1 gene on chromosome 6q21.
http://purl.obolibrary.org/obo/DOID_0111435	optic atrophy 6	http://purl.obolibrary.org/obo/DOID_5723	optic atrophy		An optic atrophy characterized by early onset of slowly progressive isolated optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 8q21-q22.
http://purl.obolibrary.org/obo/DOID_0111436	optic atrophy 11	http://purl.obolibrary.org/obo/DOID_5723	optic atrophy		An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the YME1L1 gene on chromosome 10p12.1.
http://purl.obolibrary.org/obo/DOID_0111437	optic atrophy 7	http://purl.obolibrary.org/obo/DOID_5723	optic atrophy		An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126A gene on chromosome 11q14.1.
http://purl.obolibrary.org/obo/DOID_0111438	optic atrophy 5	http://purl.obolibrary.org/obo/DOID_5723	optic atrophy		An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21.
http://purl.obolibrary.org/obo/DOID_0111439	optic atrophy 8	http://purl.obolibrary.org/obo/DOID_5723	optic atrophy		An optic atrophy characterized by progressive visual loss during the first or second decade of life that has_material_basis_in heterozygous mutation in a region on chromosome 16q21-q22.
http://purl.obolibrary.org/obo/DOID_0111440	optic atrophy 4	http://purl.obolibrary.org/obo/DOID_5723	optic atrophy		An optic atrophy that has_material_basis_in heterozygous mutation in a region on chromosome 18q12.2-q12.3.
http://purl.obolibrary.org/obo/DOID_0111441	optic atrophy 1	http://purl.obolibrary.org/obo/DOID_5723	optic atrophy		An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29.
http://purl.obolibrary.org/obo/DOID_0111442	optic atrophy 9	http://purl.obolibrary.org/obo/DOID_5723	optic atrophy		An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophy at the fundus that has_material_basis_in homozygous or compound heterozygous mutation in the ACO2 gene on chromosome 22q13.2.
http://purl.obolibrary.org/obo/DOID_0111443	optic atrophy 2	http://purl.obolibrary.org/obo/DOID_5723	optic atrophy		An optic atrophy that has_material_basis_in variation in a region on chromosome Xp11.4-p11.21.
http://purl.obolibrary.org/obo/DOID_0111444	progressive myoclonus epilepsy 4	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in the SCARB2 gene on chromosome 4q21.1.
http://purl.obolibrary.org/obo/DOID_0111445	progressive myoclonus epilepsy 10	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in the PRDM8 gene on chromosome 4q21.21.
http://purl.obolibrary.org/obo/DOID_0111446	progressive myoclonus epilepsy 3	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11.21.
http://purl.obolibrary.org/obo/DOID_0111447	progressive myoclonus epilepsy 7	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the KCNC1 gene on chromosome 11p15.1.
http://purl.obolibrary.org/obo/DOID_0111448	progressive myoclonus epilepsy 1B	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PRICKLE1 gene on chromosome 12q12.
http://purl.obolibrary.org/obo/DOID_0111449	progressive myoclonus epilepsy 6	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in the GOSR2 gene on chromosome 17q21.32.
http://purl.obolibrary.org/obo/DOID_0111450	progressive myoclonus epilepsy 9	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the LMNB2 gene on chromosome 19p13.3.
http://purl.obolibrary.org/obo/DOID_0111451	progressive myoclonus epilepsy 8	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11.
http://purl.obolibrary.org/obo/DOID_0111452	progressive myoclonus epilepsy 1A	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3.
http://purl.obolibrary.org/obo/DOID_0111453	2-aminoadipic 2-oxoadipic aciduria	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14.
http://purl.obolibrary.org/obo/DOID_0111454	SHORT syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.
http://purl.obolibrary.org/obo/DOID_0111455	GRACILE syndrome	http://purl.obolibrary.org/obo/DOID_700	mitochondrial metabolism disease		A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35.
http://purl.obolibrary.org/obo/DOID_0111456	Kaufman oculocerebrofacial syndrome	http://purl.obolibrary.org/obo/DOID_0050888	syndromic intellectual disability		A syndromic intellectual disability characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels that has_material_basis_in homozygous or compound heterozygous mutation in the UBE3B gene on chromosome 12q24.11.
http://purl.obolibrary.org/obo/DOID_0111457	STING-associated vasculopathy with onset in infancy	http://purl.obolibrary.org/obo/DOID_0060051	autoimmune disease of cardiovascular system		An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation that has_material_basis_in heterozygous gain of function mutation in the TMEM173 gene on chromosome 5q31.
http://purl.obolibrary.org/obo/DOID_0111458	galactose epimerase deficiency	http://purl.obolibrary.org/obo/DOID_9870	galactosemia		A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALE gene on chromosome 1p36.11.
http://purl.obolibrary.org/obo/DOID_0111459	classic galactosemia	http://purl.obolibrary.org/obo/DOID_9870	galactosemia		A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALT gene on chromosome 9p13.3.
http://purl.obolibrary.org/obo/DOID_0111460	cardiofaciocutaneous syndrome 1	http://purl.obolibrary.org/obo/DOID_0060233	cardiofaciocutaneous syndrome		A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34.
http://purl.obolibrary.org/obo/DOID_0111461	cardiofaciocutaneous syndrome 2	http://purl.obolibrary.org/obo/DOID_0060233	cardiofaciocutaneous syndrome		A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the KRAS gene on chromosome 12p12.1.
http://purl.obolibrary.org/obo/DOID_0111462	cardiofaciocutaneous syndrome 3	http://purl.obolibrary.org/obo/DOID_0060233	cardiofaciocutaneous syndrome		A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAP2K1 gene on chromosome 15q22.31.
http://purl.obolibrary.org/obo/DOID_0111463	cardiofaciocutaneous syndrome 4	http://purl.obolibrary.org/obo/DOID_0060233	cardiofaciocutaneous syndrome		A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAPK2K2 gene on chromosome 19p13.3.
http://purl.obolibrary.org/obo/DOID_0111464	combined oxidative phosphorylation deficiency 35	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the TRIT1 gene on chromosome 1p34.2.
http://purl.obolibrary.org/obo/DOID_0111465	combined oxidative phosphorylation deficiency 21	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency characterized either by onset within the first months of life of severe hypotonia, failure to thrive, epilepsy, and early death or by onset after 6 months of life with a milder course and longer survival that has_material_basis_in homozygous or compound heterozygous mutation in the TARS2 gene on chromosome 1q21.2.
http://purl.obolibrary.org/obo/DOID_0111466	combined oxidative phosphorylation deficiency 38	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS14 gene on chromosome 1q25.1.
http://purl.obolibrary.org/obo/DOID_0111467	combined oxidative phosphorylation deficiency 13	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the PNPT1 gene on chromosome 2p16.1.
http://purl.obolibrary.org/obo/DOID_0111468	combined oxidative phosphorylation deficiency 25	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MARS2 gene on chromosome 2q33.1.
http://purl.obolibrary.org/obo/DOID_0111469	combined oxidative phosphorylation deficiency 16	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL44 gene on chromosome 2q36.1.
http://purl.obolibrary.org/obo/DOID_0111470	combined oxidative phosphorylation deficiency 28	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A26 gene on chromosome 3p14.1.
http://purl.obolibrary.org/obo/DOID_0111471	combined oxidative phosphorylation deficiency 30	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT10C gene on chromosome 3q12.3.
http://purl.obolibrary.org/obo/DOID_0111472	combined oxidative phosphorylation deficiency 9	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.1.
http://purl.obolibrary.org/obo/DOID_0111473	combined oxidative phosphorylation deficiency 5	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS22 gene on chromosome 3q23.
http://purl.obolibrary.org/obo/DOID_0111474	combined oxidative phosphorylation deficiency 1	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32.
http://purl.obolibrary.org/obo/DOID_0111475	combined oxidative phosphorylation deficiency 39	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM2 gene on chromosome 5q13.3.
http://purl.obolibrary.org/obo/DOID_0111476	combined oxidative phosphorylation deficiency 19	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the LYRM4 gene on chromosome 6p25.1.
http://purl.obolibrary.org/obo/DOID_0111477	combined oxidative phosphorylation deficiency 14	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25.1.
http://purl.obolibrary.org/obo/DOID_0111478	combined oxidative phosphorylation deficiency 20	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the VARS2 gene on chromosome 6p21.33.
http://purl.obolibrary.org/obo/DOID_0111479	combined oxidative phosphorylation deficiency 8	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in the AARS2 gene on chromosome 6p21.1.
http://purl.obolibrary.org/obo/DOID_0111480	combined oxidative phosphorylation deficiency 10	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the MTO1 gene on chromosome 6q13.
http://purl.obolibrary.org/obo/DOID_0111481	combined oxidative phosphorylation deficiency 11	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25.1.
http://purl.obolibrary.org/obo/DOID_0111482	combined oxidative phosphorylation deficiency 36	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS2 gene on chromosome 9q34.3.
http://purl.obolibrary.org/obo/DOID_0111483	combined oxidative phosphorylation deficiency 2	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS16 gene on chromosome 10q22.2.
http://purl.obolibrary.org/obo/DOID_0111484	combined oxidative phosphorylation deficiency 18	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26.11.
http://purl.obolibrary.org/obo/DOID_0111485	combined oxidative phosphorylation deficiency 24	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1.
http://purl.obolibrary.org/obo/DOID_0111486	combined oxidative phosphorylation deficiency 3	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1.
http://purl.obolibrary.org/obo/DOID_0111487	combined oxidative phosphorylation deficiency 7	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31.
http://purl.obolibrary.org/obo/DOID_0111488	combined oxidative phosphorylation deficiency 31	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has_material_basis_in homozygous or compound heterozygous mutation in the MIPEP gene on chromosome 13q12.12.
http://purl.obolibrary.org/obo/DOID_0111489	combined oxidative phosphorylation deficiency 27	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CARS2 gene on chromosome 13q34.
http://purl.obolibrary.org/obo/DOID_0111490	combined oxidative phosphorylation deficiency 26	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT5 gene on chromosome 14q23.1.
http://purl.obolibrary.org/obo/DOID_0111491	combined oxidative phosphorylation deficiency 15	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in the MTFMT gene on chromosome 15q22.31.
http://purl.obolibrary.org/obo/DOID_0111492	combined oxidative phosphorylation deficiency 32	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS34 gene on chromosome 16p13.3.
http://purl.obolibrary.org/obo/DOID_0111493	combined oxidative phosphorylation deficiency 12	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the EARS2 gene on chromosome 16p12.2.
http://purl.obolibrary.org/obo/DOID_0111494	combined oxidative phosphorylation deficiency 4	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TUFM gene on chromosome 16p11.2.
http://purl.obolibrary.org/obo/DOID_0111495	combined oxidative phosphorylation deficiency 33	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13.2.
http://purl.obolibrary.org/obo/DOID_0111496	combined oxidative phosphorylation deficiency 17	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12.
http://purl.obolibrary.org/obo/DOID_0111497	combined oxidative phosphorylation deficiency 34	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS7 gene on chromosome 17q25.1.
http://purl.obolibrary.org/obo/DOID_0111498	combined oxidative phosphorylation deficiency 22	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5A1 gene on chromosome 18q21.1.
http://purl.obolibrary.org/obo/DOID_0111499	combined oxidative phosphorylation deficiency 37	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency characterized by hypotonia, failure to thrive, liver disfunction, and neurodegeneration that has_material_basis_in homozygous or compound heterozygous mutation in MICOS13 on chromosome 19p13.3.
http://purl.obolibrary.org/obo/DOID_0111500	combined oxidative phosphorylation deficiency 23	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the GTPBP3 gene on chromosome 19p13.11.
http://purl.obolibrary.org/obo/DOID_0111501	combined oxidative phosphorylation deficiency 29	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TXN2 gene on chromosome 22q12.3.
http://purl.obolibrary.org/obo/DOID_0111502	combined oxidative phosphorylation deficiency 6	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1.
http://purl.obolibrary.org/obo/DOID_0111503	Li-Fraumeni syndrome 1	http://purl.obolibrary.org/obo/DOID_3012	Li-Fraumeni syndrome		A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1.
http://purl.obolibrary.org/obo/DOID_0111504	Li-Fraumeni syndrome 2	http://purl.obolibrary.org/obo/DOID_3012	Li-Fraumeni syndrome		A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the CHEK2 gene on chromosome 22q12.1.
http://purl.obolibrary.org/obo/DOID_0080809	chronic asthma	http://purl.obolibrary.org/obo/DOID_2841	asthma		An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency.
http://purl.obolibrary.org/obo/DOID_0080899	lung pleomorphic carcinoma	http://purl.obolibrary.org/obo/DOID_1324	lung cancer		A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located_in the lung.
http://purl.obolibrary.org/obo/DOID_0080900	oral rhabdomyosarcoma	http://purl.obolibrary.org/obo/DOID_8618	oral cavity cancer		A rhabdomyosarcoma located in the oral cavity.
http://purl.obolibrary.org/obo/DOID_0080901	bladder sarcomatoid transitional cell carcinoma	http://purl.obolibrary.org/obo/DOID_11054	urinary bladder cancer		A sarcomatoid transitional cell carcinoma that is located_in the bladder.
http://purl.obolibrary.org/obo/DOID_0080902	bladder small cell carcinoma	http://purl.obolibrary.org/obo/DOID_4007	bladder carcinoma		A bladder carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells.
http://purl.obolibrary.org/obo/DOID_0080904	astroblastoma, MN1-altered	http://purl.obolibrary.org/obo/DOID_7305	astroblastoma		An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q.
http://purl.obolibrary.org/obo/DOID_0080905	central nervous system neuroblastoma	http://purl.obolibrary.org/obo/DOID_4439	central nervous system germ cell tumor		A central nervous system germ cell tumor that is characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation and that arising from the cerebral hemispheres.
http://purl.obolibrary.org/obo/DOID_0080906	CNS neuroblastoma with FOXR2 activation	http://purl.obolibrary.org/obo/DOID_0080905	central nervous system neuroblastoma		A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo.
http://purl.obolibrary.org/obo/DOID_0080907	Cockayne syndrome A	http://purl.obolibrary.org/obo/DOID_2962	Cockayne syndrome		A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11.
http://purl.obolibrary.org/obo/DOID_0080908	Cockayne syndrome B	http://purl.obolibrary.org/obo/DOID_2962	Cockayne syndrome		A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11.
http://purl.obolibrary.org/obo/DOID_0080909	castration-resistant prostate carcinoma	http://purl.obolibrary.org/obo/DOID_10286	prostate carcinoma		A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production.
http://purl.obolibrary.org/obo/DOID_0080911	cerebrooculofacioskeletal syndrome 1	http://purl.obolibrary.org/obo/DOID_0080910	cerebrooculofacioskeletal syndrome		A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11.
http://purl.obolibrary.org/obo/DOID_0080913	cerebrooculofacioskeletal syndrome 3	http://purl.obolibrary.org/obo/DOID_0080910	cerebrooculofacioskeletal syndrome		A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous mutation in the ERCC5 gene on chromosome 13q33.
http://purl.obolibrary.org/obo/DOID_0080914	cerebrooculofacioskeletal syndrome 4	http://purl.obolibrary.org/obo/DOID_0080910	cerebrooculofacioskeletal syndrome		A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC1 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0080915	histiocytic sarcoma	http://purl.obolibrary.org/obo/DOID_5621	histiocytic and dendritic cell cancer		A histiocytic and dendritic cell cancer that is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes.
http://purl.obolibrary.org/obo/DOID_0080916	erythroleukemia	http://purl.obolibrary.org/obo/DOID_0080780	acute erythroid leukemia		An acute erythroid leukemia characterized by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow.
http://purl.obolibrary.org/obo/DOID_0080917	sporadic amyotrophic lateral sclerosis	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that is characterized by random occurance of ALS without any known cause or familial member with ALS.
http://purl.obolibrary.org/obo/DOID_0080918	polymicrogyria	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease that is characterized by malformation of the developing brain characterized by abnormal cortical lamination and an unusual folding pattern of the cerebral cortex such that all or part of the brain surface is taken up by an excessive number of small folds (gyri).
http://purl.obolibrary.org/obo/DOID_0080919	unilateral focal polymicrogyria	http://purl.obolibrary.org/obo/DOID_0080918	polymicrogyria		A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement.
http://purl.obolibrary.org/obo/DOID_0080920	bilateral generalized polymicrogyria	http://purl.obolibrary.org/obo/DOID_0080918	polymicrogyria		A polymicrogyria that is characterized severe intellectual disability, problems with movement, and seizures and that affects the entire brain.
http://purl.obolibrary.org/obo/DOID_0080921	bilateral frontal polymicrogyria	http://purl.obolibrary.org/obo/DOID_0080918	polymicrogyria		A polymicrogyria that is characterized as a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability.
http://purl.obolibrary.org/obo/DOID_0080922	bilateral frontoparietal polymicrogyria	http://purl.obolibrary.org/obo/DOID_0090131	complex cortical dysplasia with other brain malformations		A polymicrogyria that is characterized by a global developmental delay with impaired intellectual development, motor delay, poor speech development, and early-onset seizures, often focal or atypical absence and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21.
http://purl.obolibrary.org/obo/DOID_0080924	complex cortical dysplasia with other brain malformations 14B	http://purl.obolibrary.org/obo/DOID_0080918	polymicrogyria		A polymicrogyria that is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure and that has_material_basis_in homozygous deletion of one 15-bp tandem repeat in a regulatory region of exon 1m of the ADGRG1 gene on chromosome 16q21.
http://purl.obolibrary.org/obo/DOID_0080925	cytochrome P450 oxidoreductase deficiency	http://purl.obolibrary.org/obo/DOID_1701	steroid inherited metabolic disorder		A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2.
http://purl.obolibrary.org/obo/DOID_0080926	7q11.23 duplication syndrome	http://purl.obolibrary.org/obo/DOID_0060429	chromosomal duplication syndrome		A chromosomal duplication syndrome that is characterized by motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism, seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation) and that has_material_basis_in an extra copy of a region of the long arm of chromosome 7.
http://purl.obolibrary.org/obo/DOID_0080927	apolipoprotein A-IV associated amyloidosis	http://purl.obolibrary.org/obo/DOID_9120	amyloidosis		An amyloidosis that is characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease.
http://purl.obolibrary.org/obo/DOID_0080928	dialysis-related amyloidosis	http://purl.obolibrary.org/obo/DOID_9120	amyloidosis		An amyloidosis that is characterized by the deposition of amyloid fibrils, principally composed of β2 microglobulins (β2M), in the osteoarticular structures and viscera and that is a serious complication of long-term dialysis therapy.
http://purl.obolibrary.org/obo/DOID_0080929	variant ABeta2M amyloidosis	http://purl.obolibrary.org/obo/DOID_9120	amyloidosis		An amyloidosis that is characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.
http://purl.obolibrary.org/obo/DOID_0080931	primary localized cutaneous amyloidosis 2	http://purl.obolibrary.org/obo/DOID_0050639	primary cutaneous amyloidosis		A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the IL31RA gene on chromosome 5q11.
http://purl.obolibrary.org/obo/DOID_0080933	immunoglobulin light chain amyloidosis	http://purl.obolibrary.org/obo/DOID_9120	amyloidosis		An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells.
http://purl.obolibrary.org/obo/DOID_0080934	immunoglobulin heavy chain amyloidosis	http://purl.obolibrary.org/obo/DOID_9120	amyloidosis		An amyloidosis that is characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm.
http://purl.obolibrary.org/obo/DOID_0080935	immunoglobulin heavy-and-light chain	http://purl.obolibrary.org/obo/DOID_9120	amyloidosis		An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils.
http://purl.obolibrary.org/obo/DOID_0080936	serum amyloid A amyloidosis	http://purl.obolibrary.org/obo/DOID_9120	amyloidosis		An amyloidosis that is characterized by sustained high levels of inflammatory serum amyloid A protein when inflammation is present in the body.
http://purl.obolibrary.org/obo/DOID_0080938	nonobstructive coronary artery disease	http://purl.obolibrary.org/obo/DOID_3393	coronary artery disease		A coronary artery disease that is characterized by atherosclerotic plaque that would not be expected to obstruct blood flow or result in anginal symptoms and stenosis of coronary artery less than 50 percent.
http://purl.obolibrary.org/obo/DOID_0080939	hereditary angioedema type I	http://purl.obolibrary.org/obo/DOID_14735	hereditary angioedema		A hereditrary angioedema that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q.
http://purl.obolibrary.org/obo/DOID_0080940	hereditary angioedema type III	http://purl.obolibrary.org/obo/DOID_14735	hereditary angioedema		A hereditary angioedema that is characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction and that has_material_basis_in heterozygous mutation in the gene encoding coagulation factor XII (F12) on chromosome 5q35.
http://purl.obolibrary.org/obo/DOID_0080941	acquired angioedema	http://purl.obolibrary.org/obo/DOID_1558	angioedema		An angioedema that is characterized by an acquired deficiency of (C1-INH) caused by either consumption or inactivation.
http://purl.obolibrary.org/obo/DOID_0080942	anauxetic dysplasia	http://purl.obolibrary.org/obo/DOID_0080027	spondyloepimetaphyseal dysplasia		A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation.
http://purl.obolibrary.org/obo/DOID_0080943	46,XX sex reversal 5	http://purl.obolibrary.org/obo/DOID_0111760	46,XX sex reversal		A 46,XX sex reversal that is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome and congenital diaphragmatic hernia and that has_material_basis_in heterozygous mutation in the NR2F2 gene on chromosome 15q26.
http://purl.obolibrary.org/obo/DOID_0080944	familial Behcet-like autoinflammatory syndrome	http://purl.obolibrary.org/obo/DOID_0051000	autoinflammatory disease		An autoinflammatory disease that is characterized by characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas and that has_material_basis_in heterozygous mutation in the TNFAIP3 gene on chromosome 6q23.
http://purl.obolibrary.org/obo/DOID_0080945	abdominal obesity-metabolic syndrome 4	http://purl.obolibrary.org/obo/DOID_0060611	abdominal obesity-metabolic syndrome		An abdominal obesity-metabolic syndrome that is characterized by obesity, hypertension, and early-onset coronary artery disease and that has_material_basis_in heterozygous mutation in the CELA2A gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0080946	retinal dystrophy with leukodystrophy	http://purl.obolibrary.org/obo/DOID_906	peroxisomal disease		A peroxisomal disease that is characterized by a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism and that has_material_basis_in homozygous mutation in the ACBD5 gene on chromosome 10p12.
http://purl.obolibrary.org/obo/DOID_0080947	acute flaccid myelitis	http://purl.obolibrary.org/obo/DOID_322	myelitis		A myelitis that is characterized by acute onset of flaccid weakness of one or more limbs.
http://purl.obolibrary.org/obo/DOID_0080948	agenesis of corpus callosum, cardiac, ocular, and genital syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12.
http://purl.obolibrary.org/obo/DOID_0080949	alcoholic ketoacidosis	http://purl.obolibrary.org/obo/DOID_0050758	metabolic acidosis		A metabolic acidosis that is characterized by the buildup of ketones in the blood due to alcohol use. Ketones are a type of acid that form when the body breaks down fat for energy.
http://purl.obolibrary.org/obo/DOID_0080950	alopecia-mental retardation syndrome 4	http://purl.obolibrary.org/obo/DOID_0080627	alopecia-mental retardation syndrome		An alopecia-mental retardation syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22.
http://purl.obolibrary.org/obo/DOID_0080951	alopecia-mental retardation syndrome 3	http://purl.obolibrary.org/obo/DOID_0080627	alopecia-mental retardation syndrome		An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 18q11.2–q12.2.
http://purl.obolibrary.org/obo/DOID_0080952	AMED syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance.
http://purl.obolibrary.org/obo/DOID_0080953	amelogenesis imperfecta type 1J	http://purl.obolibrary.org/obo/DOID_2187	amelogenesis imperfecta		An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ACPT on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0080954	arthrogryposis multiplex congenita	http://purl.obolibrary.org/obo/DOID_863	nervous system disease		A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth.
http://purl.obolibrary.org/obo/DOID_0080956	childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered	http://purl.obolibrary.org/obo/DOID_7841	childhood embryonal tumor with multilayered rosettes, C19MC-altered		A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children.
http://purl.obolibrary.org/obo/DOID_0080957	primary hypoalphalipoproteinemia 1	http://purl.obolibrary.org/obo/DOID_1387	hypolipoproteinemia		A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease.
http://purl.obolibrary.org/obo/DOID_0080958	primary hypoalphalipoproteinemia 2	http://purl.obolibrary.org/obo/DOID_1387	hypolipoproteinemia		A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the APOA1 gene on chromosome 11q23.
http://purl.obolibrary.org/obo/DOID_0080959	arrhythmogenic right ventricular dysplasia 14	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An arrhythmogenic right ventricular dysplasia that characterized by palpitations, chest pain, and presyncope and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12.
http://purl.obolibrary.org/obo/DOID_0080960	amelogenesis imperfecta type 2A6	http://purl.obolibrary.org/obo/DOID_2187	amelogenesis imperfecta		An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the G protein-coupled receptor-68 (GPR68) on chromosome 14q32.
http://purl.obolibrary.org/obo/DOID_0080962	anauxetic dysplasia 2	http://purl.obolibrary.org/obo/DOID_0080942	anauxetic dysplasia		A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22.
http://purl.obolibrary.org/obo/DOID_0080963	anauxetic dysplasia 3	http://purl.obolibrary.org/obo/DOID_0080942	anauxetic dysplasia		A spondyloepimetaphyseal dysplasia that is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations and that has_material_basis_in homozygous mutation in the NEPRO gene on chromosome 3q13.
http://purl.obolibrary.org/obo/DOID_0080964	intracranial berry aneurysm 1	http://purl.obolibrary.org/obo/DOID_0060228	intracranial berry aneurysm		An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 7q11.2.
http://purl.obolibrary.org/obo/DOID_0080965	intracranial berry aneurysm 2	http://purl.obolibrary.org/obo/DOID_0060228	intracranial berry aneurysm		An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0080966	intracranial berry aneurysm 3	http://purl.obolibrary.org/obo/DOID_0060228	intracranial berry aneurysm		An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0080967	intracranial berry aneurysm 4	http://purl.obolibrary.org/obo/DOID_0060228	intracranial berry aneurysm		An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 5p15.2-p14.3.
http://purl.obolibrary.org/obo/DOID_0080968	intracranial berry aneurysm 5	http://purl.obolibrary.org/obo/DOID_0060228	intracranial berry aneurysm		An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome Xp22.
http://purl.obolibrary.org/obo/DOID_0080969	intracranial berry aneurysm 6	http://purl.obolibrary.org/obo/DOID_0060228	intracranial berry aneurysm		An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 9p21.
http://purl.obolibrary.org/obo/DOID_0080970	intracranial berry aneurysm 7	http://purl.obolibrary.org/obo/DOID_0060228	intracranial berry aneurysm		An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 11q24-q25.
http://purl.obolibrary.org/obo/DOID_0080971	intracranial berry aneurysm 8	http://purl.obolibrary.org/obo/DOID_0060228	intracranial berry aneurysm		An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 14q23.
http://purl.obolibrary.org/obo/DOID_0080972	intracranial berry aneurysm 9	http://purl.obolibrary.org/obo/DOID_0060228	intracranial berry aneurysm		An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 2q33.1.
http://purl.obolibrary.org/obo/DOID_0080973	intracranial berry aneurysm 10	http://purl.obolibrary.org/obo/DOID_0060228	intracranial berry aneurysm		An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8q12.1.
http://purl.obolibrary.org/obo/DOID_0080974	intracranial berry aneurysm 11	http://purl.obolibrary.org/obo/DOID_0060228	intracranial berry aneurysm		An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8p22.
http://purl.obolibrary.org/obo/DOID_0080975	intracranial berry aneurysm 12	http://purl.obolibrary.org/obo/DOID_0060228	intracranial berry aneurysm		An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and that has_material_basis_in heterozygous mutation in the THSD1 gene on chromosome 13q14.
http://purl.obolibrary.org/obo/DOID_0080976	acute myeloid leukemia with BCR-ABL1	http://purl.obolibrary.org/obo/DOID_9119	acute myeloid leukemia		An acute myeloid leukemia that is characterized by blasts that harbor BCR-ABL1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia.
http://purl.obolibrary.org/obo/DOID_0080977	aortic valve disease 3	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A bicuspid aortic valve disease that is characterized by aortic stenosis and/or bicuspid aortic valve, associated in some patients with aneurysm of the aortic root and/or ascending aorta and that has_material_basis_in heterozygous mutation in the ROBO4 gene on chromosome 11q24.
http://purl.obolibrary.org/obo/DOID_0080978	arthrogryposis multiplex congenita-1	http://purl.obolibrary.org/obo/DOID_0080954	arthrogryposis multiplex congenita		An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the LGI4 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0080979	arthrogryposis multiplex congenita-3	http://purl.obolibrary.org/obo/DOID_0080954	arthrogryposis multiplex congenita		An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SYNE1 gene on chromosome 6q25.
http://purl.obolibrary.org/obo/DOID_0080980	arthrogryposis multiplex congenita-4	http://purl.obolibrary.org/obo/DOID_0080954	arthrogryposis multiplex congenita		An arthrogryposis multiplex congenita that has_material_basis_in homozygous mutation in the SCYL2 gene on chromosome 12q23.
http://purl.obolibrary.org/obo/DOID_0080981	arthrogryposis multiplex congenita-5	http://purl.obolibrary.org/obo/DOID_0080954	arthrogryposis multiplex congenita		An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the TOR1A gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0080982	X-linked intellectual disability-hypotonic facies syndrome-1	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked intellectual disability that is characterized primarily by severely impaired intellectual development, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women and that has_material_basis_in mutation in the ATRX gene on chromosome Xq13. This now comprises several syndromes previously reported separately, including Carpenter-Waziri syndrome, Holmes-Gang syndrome, and Smith-Fineman-Myers syndrome.
http://purl.obolibrary.org/obo/DOID_0080984	X-linked intellectual developmental disorder 109	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the FMR2 gene (AFF2), either by expansion of a CCG repeat in the 5-prime untranslated region or by deletion.
http://purl.obolibrary.org/obo/DOID_0080985	syndromic X-linked intellectual disorder Lujan-Fryns-type	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the MED12 gene on chromosome Xq13. Opitz-Kaveggia syndrome is an allelic disorder with an overlapping phenotype.
http://purl.obolibrary.org/obo/DOID_0080986	Ehlers-Danlos syndrome periodontal type 1	http://purl.obolibrary.org/obo/DOID_13359	Ehlers-Danlos syndrome		An Ehlers-Danlos syndrome that is characterized by an Ehlers-Danlos syndrome phenotype combined with severe periodontal inflammation and that has_material_basis_in heterozygous mutation in the C1R gene on chromosome 12p13.
http://purl.obolibrary.org/obo/DOID_0080987	Ehlers-Danlos syndrome periodontal type 2	http://purl.obolibrary.org/obo/DOID_13359	Ehlers-Danlos syndrome		An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the C1S gene on chromosome 12p13.
http://purl.obolibrary.org/obo/DOID_0080988	pretibial dystrophic epidermolysis bullosa	http://purl.obolibrary.org/obo/DOID_4959	epidermolysis bullosa dystrophica		An epidermolysis bullosa dystrophica that is characterized by recurrent blistering and scarring, mainly in the pretibial area and that has_material_basis_in heterozygous or compound heterozygous mutation in the type VII collagen gene (COL7A1) on chromosome 3p21. The lesions often show lichenoid features. Pretibial epidermolysis bullosa is allelic to autosomal dominant and recessive dystrophic epidermolysis bullosa.
http://purl.obolibrary.org/obo/DOID_0080990	King Denborough syndrome	http://purl.obolibrary.org/obo/DOID_423	myopathy		A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome.
http://purl.obolibrary.org/obo/DOID_0080991	congenital myopathy 1B	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form.
http://purl.obolibrary.org/obo/DOID_0080992	rhabdomyolysis-myalgia syndrome	http://purl.obolibrary.org/obo/DOID_423	myopathy		A myopathy that is characterized by muscle breakdown (rhabdomyolysis), heat and exertion-related muscle pain (myalgia) and cramping symptoms, severe muscle pain, sudden elevation and subsequent fall of serum creatine phosphokinase levels and products of muscle breakdown in the urine (myoglobinuria). Associated with RYR1 variations. Rhabdomyolysis is associated with a range of external triggers, including strenuous exercise beyond the limit of fatigue, heat stress, illicit drug or alcohol abuse, use of supplements or certain medications, recent viral illness or muscle trauma.
http://purl.obolibrary.org/obo/DOID_0112226	Bosch-Boonstra-Schaaf optic atrophy syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in the NR2F1 gene on chromosome 5q15.
http://purl.obolibrary.org/obo/DOID_0112227	tubulinopathy	http://purl.obolibrary.org/obo/DOID_2490	congenital nervous system abnormality		A congenital nervous system abnormality characterized by complex cortical malformations including in most cases dysmorphic basal ganglia that has_material_basis_in mutation in one or more of the tubulin genes.
http://purl.obolibrary.org/obo/DOID_0112228	lissencephaly 9 with complex brainstem malformation	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A lissencephaly characterized by global developmental delay, impaired intellectual development with poor or absent speech, pachygyria, lissencephaly, and malformation of the brainstem that has_material_basis_in heterozygous mutation in the MACF1 gene on chromosome 1p34.3.
http://purl.obolibrary.org/obo/DOID_0112229	lissencephaly 10	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A lissencephaly characterized by variably delayed development, mildly to moderately impaired intellectual development and language delay, seizures, brain features consistent with neuronal migration defects that has_material_basis_in heterozygous mutation in the CEP85L gene on chromosome 6q22.31.
http://purl.obolibrary.org/obo/DOID_0112230	leukoencephalopathy with variable cortical brain malformations and/or hydrocephalus	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB1 gene on chromosome 7q31.1.
http://purl.obolibrary.org/obo/DOID_0112231	lissencephaly 7 with cerebellar hypoplasia	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A lissencephaly characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5 gene on chromosome 7q36.1.
http://purl.obolibrary.org/obo/DOID_0112232	lissencephaly 3	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that has_material_basis_in heterozygous mutation in the TUBA1A gene on chromosome 12q13.12.
http://purl.obolibrary.org/obo/DOID_0112233	lissencephaly 8	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TMTC3 gene on chromosome 12q21.32.
http://purl.obolibrary.org/obo/DOID_0112234	microlissencephaly	http://purl.obolibrary.org/obo/DOID_0050453	lissencephaly		A lissencephaly characterized by lissencephaly in combination with severe congenital microcephaly.
http://purl.obolibrary.org/obo/DOID_0112235	lissencephaly 4	http://purl.obolibrary.org/obo/DOID_0112234	microlissencephaly		A microlissencephaly characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the NDE1 gene on chromosome 16p13.11.
http://purl.obolibrary.org/obo/DOID_0112236	lissencephaly 6	http://purl.obolibrary.org/obo/DOID_0112234	microlissencephaly		A microlissencephaly characterized by severe microcephaly, developmental delay, lissencephaly, pachygyria, and hypoplasia of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the KATNB1 gene on chromosome 16q21.
http://purl.obolibrary.org/obo/DOID_0112238	X-linked lissencephaly 2	http://purl.obolibrary.org/obo/DOID_0050735	X-linked monogenic disease		A lissencephaly characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia that has_material_basis_in mutation in ARX on chromosome Xp21.3.
http://purl.obolibrary.org/obo/DOID_0112239	X-linked lissencephaly 1	http://purl.obolibrary.org/obo/DOID_0050735	X-linked monogenic disease		A lissencephaly characterized by classic lissencephaly and intellectual disability in males that has_material_basis_in mutation in DCX on chromosome Xq23.
http://purl.obolibrary.org/obo/DOID_0112240	Leber congenital amaurosis with early-onset deafness	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A sensory system disease characterized by early-onset and severe photoreceptor and cochlear cell loss that has_material_basis_in heterozygous mutation in the TUBB4B gene on chromosome 9q34.3.
http://purl.obolibrary.org/obo/DOID_0112241	multiple benign circumferential skin creases on limbs	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin.
http://purl.obolibrary.org/obo/DOID_0112242	congenital symmetric circumferential skin creases 1	http://purl.obolibrary.org/obo/DOID_0112241	multiple benign circumferential skin creases on limbs		A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the TUBB gene on chromosome 6p21.33.
http://purl.obolibrary.org/obo/DOID_0112243	congenital symmetric circumferential skin creases 2	http://purl.obolibrary.org/obo/DOID_0112241	multiple benign circumferential skin creases on limbs		A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the MAPRE2 gene on chromosome 18q12.1-q12.2.
http://purl.obolibrary.org/obo/DOID_0112244	alopecia, neurologic defects, and endocrinopathy syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by alopecia, neurologic defects, and endocrinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RBM28 gene on chromosome 7q32.1.
http://purl.obolibrary.org/obo/DOID_0112246	glutaric acidemia type 3	http://purl.obolibrary.org/obo/DOID_906	peroxisomal disease		A peroxisomal disease characterized by isolated accumulation of glutaric acid in the absence of other clinical phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the SUGCT gene on chromosome 7p14.1.
http://purl.obolibrary.org/obo/DOID_0112248	17-beta hydroxysteroid dehydrogenase 3 deficiency	http://purl.obolibrary.org/obo/DOID_3765	pseudohermaphroditism		A pseudohermaphroditism characterized by undermasculinization in males including hypoplastic-to-normal internal genitalia with female external genitalia and the absence of a prostate, impaired testicular synthesis of testosterone resulting in insufficient formation of dihydrotestosterone during fetal development and resulting in pseudohermaphroditism in males that has_material_basis_in homozygous or compound heterozygous mutation of the HSD17B3 gene on chromosome 9q22.
http://purl.obolibrary.org/obo/DOID_0112249	GAPO syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR1 gene on chromosome 2p13.3.
http://purl.obolibrary.org/obo/DOID_0112250	Gaucher's disease type IIIC	http://purl.obolibrary.org/obo/DOID_0110959	Gaucher's disease type III		A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22.
http://purl.obolibrary.org/obo/DOID_0112251	Ghosal hematodiaphyseal syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that has_material_basis_in homozygous or compound heterozygous mutation in TBXAS1 on chromosome 7q34.
http://purl.obolibrary.org/obo/DOID_0112252	congenital nonspherocytic hemolytic anemia 6	http://purl.obolibrary.org/obo/DOID_0080699	glutathione synthetase deficiency		A congenital nonspherocytic hemolytic anemia a mild form of glutathione synthetase deficiency characterized by hemolytic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has_material_basis_in homozygous or compound heterozygous mutation in GSS on chromosome 20q11.22.
http://purl.obolibrary.org/obo/DOID_0112253	combined cellular and humoral immune defects with granulomas	http://purl.obolibrary.org/obo/DOID_0111962	combined immunodeficiency		A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in the RAG1 gene or the RAG2 gene on chromosome 11p12.
http://purl.obolibrary.org/obo/DOID_0112255	homocystinuria-megaloblastic anemia cblE type	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15.31.
http://purl.obolibrary.org/obo/DOID_0112256	homocystinuria-megaloblastic anemia cblG type	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTR on chromosome 1q43.
http://purl.obolibrary.org/obo/DOID_0112257	hydroxykynureninuria	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder characterized by impaired tryptophan metabolism resulting in high urinary excretion of kynurenine, xanthurenic acid and 3-hydroxykynurenine that has_material_basis_in homozygous or compound heterozygous mutation in the KYNU gene on chromosome 2q22.2.
http://purl.obolibrary.org/obo/DOID_0112258	N-acetylglutamate synthase deficiency	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in the NAGS gene on chromosome 17q21.31.
http://purl.obolibrary.org/obo/DOID_0112259	Leydig cell hypoplasia	http://purl.obolibrary.org/obo/DOID_3765	pseudohermaphroditism		A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in the LHCGR gene on chromosome 2p16.3.
http://purl.obolibrary.org/obo/DOID_0112260	Leydig cell hypoplasia type I	http://purl.obolibrary.org/obo/DOID_0112259	Leydig cell hypoplasia		A Leydig cell hypoplasia characterized by 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics that has_material_basis_in homozygous or compound heterozygous complete inactivation mutation in the LHCGR gene on chromosome 2p16.3.
http://purl.obolibrary.org/obo/DOID_0112261	Leydig cell hypoplasia type II	http://purl.obolibrary.org/obo/DOID_0112259	Leydig cell hypoplasia		A Leydig cell hypoplasia characterized by variable features ranging from micropenis to severe hypospadias and bifid scrotum that has_material_basis_in homozygous or compound heterozygous partial inactivation mutation in the LHCGR gene on chromosome 2p16.3.
http://purl.obolibrary.org/obo/DOID_0112262	leucine-sensitive hypoglycemia of infancy	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder characterized by development of hypoglycemia after high-protein feedings or leucine infusion that has_material_basis_in heterozygous mutation in the SUR1 gene on chromosome 11p15.1.
http://purl.obolibrary.org/obo/DOID_0112263	hypoinsulinemic hypoglycemia with hemihypertrophy	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An inherited metabolic disorder characterized by neonatal macrosomia, asymmetrical overgrowth, and recurrent, severe hypoinsulinemic hypoglycemia in infancy that has_material_basis_in heterozygous activating mutation in the AKT2 gene on chromosome 19q13.2.
http://purl.obolibrary.org/obo/DOID_0112264	Woodhouse-Sakati syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the DCAF17 gene on chromosome 2q31.1.
http://purl.obolibrary.org/obo/DOID_0112265	iminoglycinuria	http://purl.obolibrary.org/obo/DOID_447	renal tubular transport disease		A renal tubular transport disease characterized by impaired renal tube reabsorption of proline, hydroxyproline and glycine and elevated urine levels of the imino acids and glycine that has_material_basis_in homozygous mutation in SLC36A2 on chromosome 5q33.1 combined with either heterozygous mutation in SLC6A20 gene on chromosome 3p21.31 or homozygous mutation in SLC6A19 on chromosome 5p15.33.
http://purl.obolibrary.org/obo/DOID_0112266	nephrotic syndrome type 23	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A familial nephrotic syndrome characterized by onset of proteinuria in the first or second decade of life, mesangial hypercellularity, focal segmental glomerulosclerosis, and effacement of podocyte foot processes that has_material_basis_in homozygous or compound heterozygous mutation in the KIRREL1 gene on chromosome 1q23.1.
http://purl.obolibrary.org/obo/DOID_0112267	nephrotic syndrome type 21	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A familial nephrotic syndrome characterized by onset of rapidly, progressive kidney dysfunction in the first year of life, proteinuria, and diffuse mesangial sclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the AVIL gene on chromosome 12q14.1.
http://purl.obolibrary.org/obo/DOID_0112268	nephrotic syndrome type 22	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane that has_material_basis_in homozygous or compound heterozygous mutation in the NOS1AP gene on chromosome 1q23.3.
http://purl.obolibrary.org/obo/DOID_0112269	primary ovarian insufficiency 18	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A primary ovarian insufficiency characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1.
http://purl.obolibrary.org/obo/DOID_0112270	spermatogenic failure 52	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure that is characterized by non-obstructive azoospermia resulting from meiotic arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1.
http://purl.obolibrary.org/obo/DOID_0112271	spermatogenic failure 49	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella resulting in markedly reduced or no progressive motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP58 gene on chromosome 10q25.1.
http://purl.obolibrary.org/obo/DOID_0112272	spermatogenic failure 50	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure that is characterized by azoospermia resulting from meiotic arrest at prophase I that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC2 gene on chromosome 7q36.1.
http://purl.obolibrary.org/obo/DOID_0112273	spermatogenic failure 51	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by severe asthenoteratozoospermia with multiple morphologic abnormalities of the flagella resulting in reduced to absent motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP91 gene on chromosome 3q13.33.
http://purl.obolibrary.org/obo/DOID_0112274	X-linked spermatogenic failure 3	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the flagella that has_material_basis_in hemizygous mutation in the CFAP47 gene on chromosome Xp21.1.
http://purl.obolibrary.org/obo/DOID_0112275	developmental and epileptic encephalopathy 93	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in the ATP6V1A gene on chromosome 3q13.31.
http://purl.obolibrary.org/obo/DOID_0112276	neurodevelopmental disorder with involuntary movements	http://purl.obolibrary.org/obo/DOID_480	movement disease		A movement disease characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis that has_material_basis_in heterozygous mutation of the GNAO1 gene on chromosome 16q13.
http://purl.obolibrary.org/obo/DOID_0112277	immunodeficiency 79	http://purl.obolibrary.org/obo/DOID_11200	T cell deficiency		A T cell deficiency characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus and absence of the CD4 antigen on T cells, monocytes, and dendritic cells that has_material_basis_in homozygous or compound heterozygous mutation in CD4 on chromosome 12p13.
http://purl.obolibrary.org/obo/DOID_0112278	primary ovarian insufficiency 19	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A primary ovarian insufficiency characterized by irregular menses that cease in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the HSF2BP gene on chromosome 21q22.
http://purl.obolibrary.org/obo/DOID_0112279	spermatogenic failure 53	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by infertility resulting from absence of oocyte activation and ultrastructural abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL9 gene on chromosome 19p13.2.
http://purl.obolibrary.org/obo/DOID_0112282	spondyloepiphyseal dysplasia Kimberley type	http://purl.obolibrary.org/obo/DOID_0112280	spondyloepiphyseal dysplasia		A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the ACAN gene on chromosome 15q26.1.
http://purl.obolibrary.org/obo/DOID_0112283	spondyloepiphyseal dysplasia Kondo-Fu type	http://purl.obolibrary.org/obo/DOID_0112280	spondyloepiphyseal dysplasia		A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the MBTPS1 gene on chromosome 16q23.3-q24.1.
http://purl.obolibrary.org/obo/DOID_0112284	spondyloepiphyseal dysplasia tarda	http://purl.obolibrary.org/obo/DOID_0112280	spondyloepiphyseal dysplasia		A spondyloepiphyseal dysplasia characterized by impaired growth of the bones of the spine and the ends of the long bones that becomes apparent in after birth.
http://purl.obolibrary.org/obo/DOID_0112285	autosomal dominant spondyloepiphyseal dysplasia tarda	http://purl.obolibrary.org/obo/DOID_0112284	spondyloepiphyseal dysplasia tarda		A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0112286	spondyloepiphyseal dysplasia with punctate corneal dystrophy	http://purl.obolibrary.org/obo/DOID_0112280	spondyloepiphyseal dysplasia		A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia and punctate dystrophy of the full depth of the corneal stroma.
http://purl.obolibrary.org/obo/DOID_0112287	spondyloepiphyseal dysplasia-brachydactyly and distinctive speech	http://purl.obolibrary.org/obo/DOID_0112280	spondyloepiphyseal dysplasia		A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech.
http://purl.obolibrary.org/obo/DOID_0112288	spondyloepiphyseal dysplasia Nishimura type	http://purl.obolibrary.org/obo/DOID_0112280	spondyloepiphyseal dysplasia		A spondyloepiphyseal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, midface hypoplasia with a small nose, mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses that has_material_basis_in heterozygous gain-of-function mutation in the MIR140 gene on chromosome 16q22.1.
http://purl.obolibrary.org/obo/DOID_0112289	spondyloepiphyseal dysplasia tarda with characteristic facies	http://purl.obolibrary.org/obo/DOID_0112284	spondyloepiphyseal dysplasia tarda		A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay.
http://purl.obolibrary.org/obo/DOID_0112290	spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by early-onset retinal degeneration, sensorineural hearing loss, short stature, vertebral anomalies, epiphyseal dysplasia, and motor and intellectual delay that has_material_basis_in homozygous or compound heterozygous mutation in NMNAT1 on chromosome 1p36.22.
http://purl.obolibrary.org/obo/DOID_0112291	autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type	http://purl.obolibrary.org/obo/DOID_0112284	spondyloepiphyseal dysplasia tarda		A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance with late-onset of short-trunk type of short stature, abnormal spinal curvature, and minor leg deformities.
http://purl.obolibrary.org/obo/DOID_0112292	spondyloepiphyseal dysplasia tarda with impaired intellectual development	http://purl.obolibrary.org/obo/DOID_0112284	spondyloepiphyseal dysplasia tarda		A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of spondyloepiphyseal dysplasia associated with mild to moderate intellectual disability.
http://purl.obolibrary.org/obo/DOID_0112293	autosomal recessive spondyloepiphyseal dysplasia tarda	http://purl.obolibrary.org/obo/DOID_0112284	spondyloepiphyseal dysplasia tarda		A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of short stature, flat vertebrae, and severe hip disease.
http://purl.obolibrary.org/obo/DOID_0112294	spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and impaired intellectual development	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and intellectual disability.
http://purl.obolibrary.org/obo/DOID_0112295	spondylometaphyseal dysplasia	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia characterized by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions.
http://purl.obolibrary.org/obo/DOID_0112296	spondylometaphyseal dysplasia Algerian type	http://purl.obolibrary.org/obo/DOID_0112295	spondylometaphyseal dysplasia		A spondylometaphyseal dysplasia characterized by a short trunk and severe genu valgum and that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0112297	spondylometaphyseal dysplasia corner fracture type	http://purl.obolibrary.org/obo/DOID_0112295	spondylometaphyseal dysplasia		A spondylometaphyseal dysplasia characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures that has_material_basis_in heterozygous mutation in FN1 on chromosome 2q35.
http://purl.obolibrary.org/obo/DOID_0112298	spondylometaphyseal dysplasia Sedaghatian type	http://purl.obolibrary.org/obo/DOID_0112295	spondylometaphyseal dysplasia		A spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorrhage, severe hypotonia and cardiorespiratory problems that has_material_basis_in homozygous or compound heterozygous mutation in the GPX4 gene on chromosome 19p13.3.
http://purl.obolibrary.org/obo/DOID_0112299	axial spondylometaphyseal dysplasia	http://purl.obolibrary.org/obo/DOID_0112295	spondylometaphyseal dysplasia		A spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP410 gene on chromosome 21q22.3.
http://purl.obolibrary.org/obo/DOID_0112300	spondylometaphyseal dysplasia with cone-rod dystrophy	http://purl.obolibrary.org/obo/DOID_0112295	spondylometaphyseal dysplasia		A spondylometaphyseal dysplasia characterized by postnatal growth deficiency, profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT1A gene on chromosome 3q29.
http://purl.obolibrary.org/obo/DOID_0112301	spondylometaphyseal dysplasia type A4	http://purl.obolibrary.org/obo/DOID_0112295	spondylometaphyseal dysplasia		A spondylometaphyseal dysplasia characterized by severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities.
http://purl.obolibrary.org/obo/DOID_0112302	spondylometaphyseal dysplasia East African type	http://purl.obolibrary.org/obo/DOID_0112295	spondylometaphyseal dysplasia		A spondylometaphyseal dysplasia characterized by oval vertebral bodies with wide, bracket-shaped metaphyses and small, round epiphyses without anterior tonguing of the vertebral bodies.
http://purl.obolibrary.org/obo/DOID_0112303	spondylometaphyseal dysplasia with corneal dystrophy	http://purl.obolibrary.org/obo/DOID_0112295	spondylometaphyseal dysplasia		A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB3 gene on chromosome 11q13.1.
http://purl.obolibrary.org/obo/DOID_0112304	spondylometaphyseal dysplasia Megarbane-Dagher-Melike type	http://purl.obolibrary.org/obo/DOID_0112295	spondylometaphyseal dysplasia		A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the PAM16 gene on chromosome 16p13.3.
http://purl.obolibrary.org/obo/DOID_0112305	spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism	http://purl.obolibrary.org/obo/DOID_0112295	spondylometaphyseal dysplasia		A spondylometaphyseal dysplasia characterized by short stature, hyperlordosis, bowed legs, shortening and bowing of the forearms, abnormal face, and radiographic changes characteristic of spondylometaphyseal dysplasia.
http://purl.obolibrary.org/obo/DOID_0112306	Mahvash Disease	http://purl.obolibrary.org/obo/DOID_1428	endocrine pancreas disease		An endocrine pancreas disease characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and increased serum glucagon levels that has_material_basis_in homozygous or compound heterozygous inactivating mutation of the GCGR gene on chromosome 17q25.3.
http://purl.obolibrary.org/obo/DOID_0112307	sarcosinemia	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder characterized by increased concentrations of sarcosine in plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in the SARDH gene on chromosome 9q34.2.
http://purl.obolibrary.org/obo/DOID_0080995	tuberculous encephalopathy	http://purl.obolibrary.org/obo/DOID_399	tuberculosis		A tuberculosis that is characterized by cerebral edema sometimes with features similar to acute disseminated encephalomyelitis (ADEM) and may manifest with a variety of symptoms ranging from focal neurological deficits to convulsions and decreased conscious state.
http://purl.obolibrary.org/obo/DOID_0080996	diffuse large B-cell lymphoma activated B-cell type	http://purl.obolibrary.org/obo/DOID_0050745	diffuse large B-cell lymphoma		A diffuse large B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes.
http://purl.obolibrary.org/obo/DOID_0080997	diffuse large B-cell lymphoma germinal center B-cell type	http://purl.obolibrary.org/obo/DOID_0050745	diffuse large B-cell lymphoma		A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification.
http://purl.obolibrary.org/obo/DOID_0080998	acute necrotizing pancreatitis	http://purl.obolibrary.org/obo/DOID_2913	acute pancreatitis		An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.
http://purl.obolibrary.org/obo/DOID_0080999	acute hemorrhagic pancreatitis	http://purl.obolibrary.org/obo/DOID_2913	acute pancreatitis		An acute pancreatits that is characterized by acute inflammation of the pancreas in which the initial edematous pancreatitis evolved into necrosis accompanied by hemorrhage.
http://purl.obolibrary.org/obo/DOID_0081000	Cowden syndrome 4	http://purl.obolibrary.org/obo/DOID_6457	Cowden syndrome		A Cowden syndrome that has_material_basis_in heterozygous germline hypermethylation of the KLLN gene on chromosome 10q23.
http://purl.obolibrary.org/obo/DOID_0081003	Cowden syndrome 7	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Cowden syndrome that has_material_basis_in heterozygous mutation in the SEC23B gene on chromosome 20p11.
http://purl.obolibrary.org/obo/DOID_0081005	parsley allergy	http://purl.obolibrary.org/obo/DOID_0070334	vegetable allergy		A vegetable allergy triggered by parsley (Petroselinum).
http://purl.obolibrary.org/obo/DOID_0081006	dill allergy	http://purl.obolibrary.org/obo/DOID_0070334	vegetable allergy		A food allergy triggered by dill (Anethum graveolens).
http://purl.obolibrary.org/obo/DOID_0081007	RNASET2-deficient cystic leukoencephalopathy	http://purl.obolibrary.org/obo/DOID_10579	leukodystrophy		A leukodystrophy that is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment.
http://purl.obolibrary.org/obo/DOID_0081008	Lodder-Merla syndrome type 1 with impaired intellectual development and cardiac arrhythmia	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias and that has_material_basis_in homozygous or compound heterozygous mutation in the GNB5 gene on chromosome 15q21.
http://purl.obolibrary.org/obo/DOID_0081010	Bardet-Biedl syndrome 21	http://purl.obolibrary.org/obo/DOID_1935	Bardet-Biedl syndrome		A Bardet-Biedl syndrome that is characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment and that has_material_basis_in homozygous mutation in the C8ORF37 gene on chromosome 8q22.
http://purl.obolibrary.org/obo/DOID_0081011	Bardet-Biedl syndrome 22	http://purl.obolibrary.org/obo/DOID_1935	Bardet-Biedl syndrome		A Bardet-Biedl syndrome that is retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability has_material_basis_in compound heterozygous or homozygous mutation in the IFT74 gene on chromosome 9p21.
http://purl.obolibrary.org/obo/DOID_0081012	critical COVID-19	http://purl.obolibrary.org/obo/DOID_0080600	COVID-19		A COVID-19 that is characterized by the criteria for acute respiratory distress syndrome (ARDS), sepsis, septic shock, or other conditions that would normally require the provision of life sustaining therapies such as mechanical ventilation (invasive or non-invasive) or vasopressor therapy.
http://purl.obolibrary.org/obo/DOID_0081013	severe COVID-19	http://purl.obolibrary.org/obo/DOID_0080600	COVID-19		A COVID-19 that is characterized by any of (1) Oxygen saturation < 90% on room air, (2) Respiratory rate > 30 breaths/min in adults and children > 5 years old, ≥ 60 breaths/min in children < 2 months old, ≥ 50 in children 2–11 months old, and ≥ 40 in children 1–5 years old, or (3) signs of severe respiratory distress (accessory muscle use, inability to complete full sentences, and, in children, very severe chest wall indrawing, grunting, central cyanosis, or presence of any other general danger signs.
http://purl.obolibrary.org/obo/DOID_0081014	non-severe COVID-19	http://purl.obolibrary.org/obo/DOID_0080600	COVID-19		A COVID-19 that is characterized by the absence of any criteria for severe or critical COVID-19.
http://purl.obolibrary.org/obo/DOID_0081015	congenital fibrosis of the extraocular muscles 1	http://purl.obolibrary.org/obo/DOID_0080143	congenital fibrosis of the extraocular muscles		A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygous mutation in the KIF21A gene on chromosome 12q12.
http://purl.obolibrary.org/obo/DOID_0081016	congenital fibrosis of the extraocular muscles 2	http://purl.obolibrary.org/obo/DOID_0080143	congenital fibrosis of the extraocular muscles		A congenital fibrosis of the extraocular muscles that is characterized by bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) and that has_material_basis_in homozygous mutation in the ARIX gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0081017	congenital fibrosis of the extraocular muscles 3A	http://purl.obolibrary.org/obo/DOID_0080143	congenital fibrosis of the extraocular muscles		A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24.
http://purl.obolibrary.org/obo/DOID_0081019	congenital fibrosis of the extraocular muscles 3C	http://purl.obolibrary.org/obo/DOID_0080143	congenital fibrosis of the extraocular muscles		A congenital fibrosis of the extraocular muscles that is characterized by congenital bilateral ptosis and limitation of the superior rectus and that has_material_basis_in a reciprocal translocation t(2;13)(q37.3;q12.11).
http://purl.obolibrary.org/obo/DOID_0081020	congenital fibrosis of the extraocular muscles 5	http://purl.obolibrary.org/obo/DOID_0080143	congenital fibrosis of the extraocular muscles		A congenital fibrosis of the extraocular muscles that has_material_basis_in homozygous or compound heterozygous mutation in the COL25A1 gene on chromosome 4q25.
http://purl.obolibrary.org/obo/DOID_0081021	Tukel syndrome	http://purl.obolibrary.org/obo/DOID_0080143	congenital fibrosis of the extraocular muscles		A congenital fibrosis of the extraocular muscles that is characterized by nonprogressive restrictive ophthalmoplegia with blepharoptosis of the right eye and postaxial oligodactyly/oligosyndactyly of the hands, with the right more severely affected than the left.
http://purl.obolibrary.org/obo/DOID_0081022	cone dystrophy with supernormal rod responses	http://purl.obolibrary.org/obo/DOID_0050795	cone dystrophy		A cone dystrophy that is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral widespread sensitivity loss predominating in the superior visual field and that has_material_basis_in homozygous or compound heterozygous mutation in the KCNV2 gene on chromosome 9p24.
http://purl.obolibrary.org/obo/DOID_0081023	retinal cone dystrophy 4	http://purl.obolibrary.org/obo/DOID_0050795	cone dystrophy		A cone dystrophy that has_material_basis_in homozygous mutation in the CACNA2D4 gene on chromosome 12p13.
http://purl.obolibrary.org/obo/DOID_0081024	retinal cone dystrophy 1	http://purl.obolibrary.org/obo/DOID_0050795	cone dystrophy		A cone dystrophy that is characterized as autosomal dominant form of diffuse cone degeneration.
http://purl.obolibrary.org/obo/DOID_0081025	achromatopsia 6	http://purl.obolibrary.org/obo/DOID_0050795	cone dystrophy		A cone dystrophy that is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision and that has_material_basis_in mutation in the gene encoding the gamma subunit of cone cGMP-phosphodiesterase (PDE6H) on chromosome 12p13.
http://purl.obolibrary.org/obo/DOID_0081026	benign peritoneal solitary fibrous tumor	http://purl.obolibrary.org/obo/DOID_0060117	peritoneal benign neoplasm		A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels.
http://purl.obolibrary.org/obo/DOID_0112311	male infertility due to acephalic spermatozoa	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by male infertility caused by a majority of spermatozoa lacking heads.
http://purl.obolibrary.org/obo/DOID_0112312	male infertility due to globozoospermia	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by male infertility caused by the majority of spermatozoa having round heads and acrosome defects.
http://purl.obolibrary.org/obo/DOID_0112313	brain small vessel disease	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease characterized by abnormalities in the small blood vessels in the brain.
http://purl.obolibrary.org/obo/DOID_0112314	autosomal dominant brain small vessel disease 2A	http://purl.obolibrary.org/obo/DOID_0112313	brain small vessel disease		A brain small vessel disease characterized by variable neurologic impairment resulting from disturbed vascular supply that leads to cerebral degeneration that has_material_basis_in heterozygous mutation in COL4A2 on chromosome 13q34.
http://purl.obolibrary.org/obo/DOID_0112315	brain small vessel disease 3	http://purl.obolibrary.org/obo/DOID_0112313	brain small vessel disease		A brain small vessel disease characterized by impaired basement membrane morphology resulting in increased fragility of cerebral blood vessels and an increased risk of intracranial bleeds of variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the COLGALT1 gene on chromosome 19p13.11.
http://purl.obolibrary.org/obo/DOID_0112316	methemoglobinemia and ambiguous genitalia	http://purl.obolibrary.org/obo/DOID_1923	disorder of sexual development		A disorder of sexual development characterized by severely reduced 17,20-lyase activity of CYP17A1, sex steroid deficiency with no deficiency in glucocorticoid and mineralocorticoid reserves, absent or disturbed pubertal development, and mild to severe methemoglobinemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYB5A gene on chromosome 18q22.3.
http://purl.obolibrary.org/obo/DOID_0112317	Schindler disease	http://purl.obolibrary.org/obo/DOID_3211	lysosomal storage disease		A lysosomal storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2.
http://purl.obolibrary.org/obo/DOID_0112318	Schindler disease type 1	http://purl.obolibrary.org/obo/DOID_0112317	Schindler disease		A Schindler disease characterized by infantile onset of neuroaxonal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2.
http://purl.obolibrary.org/obo/DOID_0112319	Kanzaki disease	http://purl.obolibrary.org/obo/DOID_0112317	Schindler disease		A Schindler disease characterized by adult-onset of angiokeratoma corporis diffusum and mild intellectual impairment that has_material_basis_in homozygous mutation in the gene encoding alpha-N-galactosaminidase (NAGA) on chromosome 22q13.
http://purl.obolibrary.org/obo/DOID_0112320	Schindler disease type 3	http://purl.obolibrary.org/obo/DOID_0112317	Schindler disease		A Schindler disease characterized by mild to moderate neurologic manifestations with onset after infancy but earlier than in Schindler disease type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2.
http://purl.obolibrary.org/obo/DOID_0112321	alacrima, achalasia, and impaired intellectual development syndrome	http://purl.obolibrary.org/obo/DOID_5212	congenital disorder of glycosylation		A congenital disorder of glycosylation characterized by onset in infancy of alacrima, achalasia, and impaired intellectual development without adrenal insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPA gene on chromosome 2q35.
http://purl.obolibrary.org/obo/DOID_0112322	pontocerebellar hypoplasia type 1	http://purl.obolibrary.org/obo/DOID_0060264	pontocerebellar hypoplasia		A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia.
http://purl.obolibrary.org/obo/DOID_0112323	pontocerebellar hypoplasia type 1D	http://purl.obolibrary.org/obo/DOID_0112322	pontocerebellar hypoplasia type 1		A pontocerebellar hypoplasia type 1 characterized by severe hypotonia and motor neuronopathy detectable at birth or in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC9 gene on chromosome 4q27.
http://purl.obolibrary.org/obo/DOID_0112324	pontocerebellar hypoplasia type 11	http://purl.obolibrary.org/obo/DOID_0060264	pontocerebellar hypoplasia		A pontocerebellar hypoplasia characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D23 gene on chromosome 3q12.1-q12.2.
http://purl.obolibrary.org/obo/DOID_0112325	pontocerebellar hypoplasia type 14	http://purl.obolibrary.org/obo/DOID_0060264	pontocerebellar hypoplasia		A pontocerebellar hypoplasia characterized by congenital onset of progressive microcephaly, poor or absent psychomotor development, and severely impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PPIL1 gene on chromosome 6p21.2.
http://purl.obolibrary.org/obo/DOID_0112326	pontocerebellar hypoplasia type 15	http://purl.obolibrary.org/obo/DOID_0060264	pontocerebellar hypoplasia		A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDC40 gene on chromosome 6q21.
http://purl.obolibrary.org/obo/DOID_0112327	pontocerebellar hypoplasia type 12	http://purl.obolibrary.org/obo/DOID_0060264	pontocerebellar hypoplasia		A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the COASY gene on chromosome 17q21.2.
http://purl.obolibrary.org/obo/DOID_0112328	pontocerebellar hypoplasia type 2	http://purl.obolibrary.org/obo/DOID_0060264	pontocerebellar hypoplasia		A pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy.
http://purl.obolibrary.org/obo/DOID_0112329	pontocerebellar hypoplasia type 2F	http://purl.obolibrary.org/obo/DOID_0112328	pontocerebellar hypoplasia type 2		A pontocerebellar hypoplasia type 2 characterized by progressive microcephaly and variable neurologic signs and symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the TSEN15 gene on chromosome 1q25.3.
http://purl.obolibrary.org/obo/DOID_0112330	pontocerebellar hypoplasia type 1E	http://purl.obolibrary.org/obo/DOID_0112322	pontocerebellar hypoplasia type 1		A pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A46 gene on chromosome 5q22.1.
http://purl.obolibrary.org/obo/DOID_0112331	pontocerebellar hypoplasia type 1F	http://purl.obolibrary.org/obo/DOID_0112322	pontocerebellar hypoplasia type 1		A pontocerebellar hypoplasia type 1 characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC1 gene on chromosome 10q24.1.
http://purl.obolibrary.org/obo/DOID_0112332	pontocerebellar hypoplasia type 13	http://purl.obolibrary.org/obo/DOID_0060264	pontocerebellar hypoplasia		A pontocerebellar hypoplasia characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem that has_material_basis_in homozygous or compound heterozygous mutation in the VPS51 gene on chromosome 11q13.1.
http://purl.obolibrary.org/obo/DOID_0112333	pontocerebellar hypoplasia type 16	http://purl.obolibrary.org/obo/DOID_0060264	pontocerebellar hypoplasia		A pontocerebellar hypoplasia characterized by hypotonia and severe global developmental delay apparent from early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the MINPP1 gene on chromosome 10q23.2.
http://purl.obolibrary.org/obo/DOID_0112334	pontocerebellar hypoplasia type 1C	http://purl.obolibrary.org/obo/DOID_0112322	pontocerebellar hypoplasia type 1		A pontocerebellar hypoplasia type 1 characterized by severe muscle weakness and failure to thrive apparent in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC8 gene on chromosome 13q13.3.
http://purl.obolibrary.org/obo/DOID_0112335	spermatogenic failure 54	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by male infertility due to oligoteratoasthenozoospermia, with markedly reduced sperm counts and severely reduced or absent sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the CATIP gene on chromosome 2q35.
http://purl.obolibrary.org/obo/DOID_0112336	spermatogenic failure 56	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by male infertility due to multiple morphologic abnormalities of the flagella with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH10 gene on chromosome 12q24.31.
http://purl.obolibrary.org/obo/DOID_0112337	spermatogenic failure 55	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by male infertility due to asthenozoospermia, with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the SPAG17 gene on chromosome 1p12.
http://purl.obolibrary.org/obo/DOID_0112338	spermatogenic failure 57	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage that has_material_basis_in homozygous or compound heterozygous mutation in the PNLDC1 gene on chromosome 6q25.3.
http://purl.obolibrary.org/obo/DOID_0112358	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by reduced growth, thin and short long bones, distinctive facial dysmorphism, dental and skeletal abnormalities, and absence of developmental delay or intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCUBE3 gene on chromosome 6p21.31.
http://purl.obolibrary.org/obo/DOID_0112359	congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by variable congenital anomalies of the kidney and urinary tract and variable presentation of ear abnormalities, hearing loss, and global developmental delay that has_material_basis_in heterozygous mutation in the PBX1 gene on chromosome 1q23.3 or deletion of a genomic region that includes the PBX1 gene.
http://purl.obolibrary.org/obo/DOID_0112360	spondylocostal dysostosis 6	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the RIPPLY2 gene on chromosome 6q14.2.
http://purl.obolibrary.org/obo/DOID_0112361	spondylocostal dysostosis 3	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the LFNG gene on chromosome 7p22.3.
http://purl.obolibrary.org/obo/DOID_0112362	spondylocostal dysostosis 2	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the MESP2 gene on chromosome 15q26.1.
http://purl.obolibrary.org/obo/DOID_0112363	spondylocostal dysostosis 5	http://purl.obolibrary.org/obo/DOID_0050739	autosomal genetic disease		A spondylocostal dysostosis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TBX6 gene on chromosome 16p11.2.
http://purl.obolibrary.org/obo/DOID_0112364	spondylocostal dysostosis 4	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A spondylocostal dysostosis that has_material_basis_in heterozygous or compound homozygous mutation in the HES7 gene on chromosome 17p13.1.
http://purl.obolibrary.org/obo/DOID_0112365	spondylocostal dysostosis 1	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the DLL3 gene on chromosome 19q13.2.
http://purl.obolibrary.org/obo/SYMP_0020000	airway stenosis	http://purl.obolibrary.org/obo/SYMP_0000514	respiratory system and chest symptom		A respiratory system and chest symptom that is characterized by a narrowing in the airway that obstructs the passage of air into the lungs.  Examples include tracheal and laryngotracheal stenosis.
http://purl.obolibrary.org/obo/SYMP_0020001	apthous ulcer	http://purl.obolibrary.org/obo/SYMP_0000136	skin ulcer		A skin ulcer that is characterized by a small recurrent, painful, round or ovoid ulcers with well-defined erythematous margins, like a halo, and a central yellow or gray floor found in the soft tissue of the oral cavity.
http://purl.obolibrary.org/obo/SYMP_0020004	ageusia	http://purl.obolibrary.org/obo/SYMP_0000551	disturbances of sensation of smell and taste		A disturbances of sensation of smell and taste that is characterized by a complete loss of taste function of the tongue.
http://purl.obolibrary.org/obo/SYMP_0020006	agitation	http://purl.obolibrary.org/obo/SYMP_0000410	neurological and physiological symptom		A neurological and physiological symptom that is characterized by a feeling of irritability or severe restlessness.
http://purl.obolibrary.org/obo/DOID_0081336	Thomsen disease	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34.
http://purl.obolibrary.org/obo/DOID_0070363	bradyopsia 1	http://purl.obolibrary.org/obo/DOID_0050335	bradyopsia		A braydopsia that has_material_basis_in homozygous or compound heterozygous mutation in the RGS9 gene on chromosome 17q24.
http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy	http://purl.obolibrary.org/obo/DOID_423	myopathy		A myopathy that is characterized by hypotonia and weakness, usually present from birth.
http://purl.obolibrary.org/obo/DOID_0070521	peeling skin syndrome 2	http://purl.obolibrary.org/obo/DOID_0060283	peeling skin syndrome		A peeling skin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TGM5 gene on chromosome 15q15.2.
http://purl.obolibrary.org/obo/DOID_0081401	autosomal dominant distal hereditary motor neuronopathy 13	http://purl.obolibrary.org/obo/DOID_0111198	autosomal dominant distal hereditary motor neuronopathy		An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.
http://purl.obolibrary.org/obo/DOID_0070525	peeling skin syndrome 6	http://purl.obolibrary.org/obo/DOID_0060283	peeling skin syndrome		A peeling skin syndrome that has_material_basis_in homozygous mutation in the FLG2 gene on chromosome 1q21.3.
http://purl.obolibrary.org/obo/DOID_0081406	round cell sarcoma with EWSR1-non-ETS fusion	http://purl.obolibrary.org/obo/DOID_3098	small cell sarcoma		A small cell sarcoma that is characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family.
http://purl.obolibrary.org/obo/DOID_0070595	X-linked spermatogenic failure 4	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by azoospermia or oligoasthenoteratozoospermia that has_material_basis_in hemizygous mutation in the GCNA gene on chromosome Xq13.1.
http://purl.obolibrary.org/obo/DOID_0070564	dialysis disequilibrium syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that occurs during or after hemodialysis, or rarely continuous renal replacement therapy, characterized by variable, primarily neurological symptoms including headache, nausea, blurred vision, restlessness, confusion, dizziness, muscle cramps, intraocular pressure and, in severe cases, seizures, somnolence, stupor, or coma.
http://purl.obolibrary.org/obo/DOID_0060994	encephalopathy due to defective mitochondrial and peroxisomal fission 2	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the MFF gene on chromosome 2q36.
http://purl.obolibrary.org/obo/DOID_0060986	preaxial polydactyly II	http://purl.obolibrary.org/obo/DOID_1148	polydactyly		A polydactyly characterized by the presence of 3 phalanges within the thumb that has_material_basis_in heterozygous mutation in the ZRS, a regulatory element of SHH, on chromosome 7q36.
http://purl.obolibrary.org/obo/DOID_0051014	atypical autosomal dominant adult-onset demyelinating leukodystrophy	http://purl.obolibrary.org/obo/DOID_0051015	adult onset demyelinating leukodystrophy		An adult onset demyelinating leukodystrophy that is characterized by pyramidal signs with weakness and spasticity, dysarthria, dysautonomia, and white matter alterations affecting the cerebrum and corticospinal tracts while sparing the cerebellum and that has_material_basis_in heterozygous deletion involving regulatory elements upstream of the LMNB1 gene on chromosome 5q23. Atypical ADLD can be distinguished from typical ADLD by lack of early involvement of the autonomic nervous system and sparing of the cerebellum clinically and on brain imaging.
http://purl.obolibrary.org/obo/DOID_0051015	adult onset demyelinating leukodystrophy	http://purl.obolibrary.org/obo/DOID_10579	leukodystrophy		A leukodystrophy that is characterized by central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment.
http://purl.obolibrary.org/obo/DOID_0051016	visceral heterotaxy 1	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A visceral heterotaxy that is characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach and that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26.
http://purl.obolibrary.org/obo/DOID_0051017	visceral heterotaxy 2	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A visceral heterotaxy that has_material_basis_in heterozygous mutation in the CFC1 gene on chromosome 2q21.
http://purl.obolibrary.org/obo/DOID_0051018	visceral heterotaxy 3	http://purl.obolibrary.org/obo/DOID_0050545	visceral heterotaxy		A visceral heterotaxy that has been mapped to chromosome 6q21.
http://purl.obolibrary.org/obo/DOID_0051019	visceral heterotaxy 4	http://purl.obolibrary.org/obo/DOID_0050545	visceral heterotaxy		A visceral heterotaxy that is has_material_basis_in heterozygous mutation in the ACVR2B gene on chromosome 3p22.
http://purl.obolibrary.org/obo/DOID_0051020	visceral heterotaxy 6	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A visceral heterotaxy that is has_material_basis_in homozygous mutation in the CCDC11 gene (CFAP53) on chromosome 18q21.
http://purl.obolibrary.org/obo/DOID_0051021	visceral heterotaxy 7	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A visceral heterotaxy that is characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the MMP21 gene on chromosome 10q26.
http://purl.obolibrary.org/obo/DOID_0051022	visceral heterotaxy 8	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A visceral heterotaxy that is characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the PKD1L1 gene on chromosome 7p12.
http://purl.obolibrary.org/obo/DOID_0051023	visceral heterotaxy 9	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A visceral heterotaxy that is characterized by randomization of organ laterality, resulting in defects such as situs inversus and dextrocardia and that has_material_basis_in homozygous mutation in the MNS1 gene on chromosome 15q21.
http://purl.obolibrary.org/obo/DOID_0051024	visceral heterotaxy 10	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous mutation in the CFAP52 gene on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0051025	visceral heterotaxy 11	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP45 gene on chromosome 1q23.
http://purl.obolibrary.org/obo/DOID_0051026	visceral heterotaxy 12	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A visceral heterotaxy that is characterized by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects and that has_material_basis_in homozygous or compound heterozygous mutation in the CIROP gene on chromosome 14q11.
http://purl.obolibrary.org/obo/DOID_0051027	visceral heterotaxy 13	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A visceral heterotaxy that is characterized by heterotaxy and congenital heart disease and that has_material_basis_in homozygous mutation in the DAND5 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0051028	autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Charcot-Marie-Tooth disease type 4 that is characterized by the absence of sensory loss with an onset age of 15 to 25 years and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24.
http://purl.obolibrary.org/obo/DOID_0051029	mitochondrial DNA depletion syndrome-21	http://purl.obolibrary.org/obo/DOID_0070329	mitochondrial DNA depletion syndrome		A mitochondrial DNA depletion syndrome that is characterized by ptosis, ophthalmoparesis, and myopathic limb weakness, as well as variable hepatopathy and altered T-lymphocyte profiles and that has_material_basis_in homozygous or compound heterozygous mutation in the GUK1 gene, which encodes guanylate kinase-1, on chromosome 1q42.
http://purl.obolibrary.org/obo/DOID_0051030	neurodevelopmental disorder with microcephaly, absent speech, and hypotonia	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, hypotonia with virtually no motor skill acquisition, and profoundly impaired intellectual development with absent speech and that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR1 gene on chromosome 1q32.
http://purl.obolibrary.org/obo/DOID_0051031	primary autosomal recessive microcephaly 20	http://purl.obolibrary.org/obo/DOID_0070296	autosomal recessive primary microcephaly		A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KIF14 gene on chromosome 1q31.
http://purl.obolibrary.org/obo/DOID_0051032	primary autosomal recessive microcephaly 21	http://purl.obolibrary.org/obo/DOID_0070296	autosomal recessive primary microcephaly		A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPD2 gene on chromosome 12p13.
http://purl.obolibrary.org/obo/DOID_0051033	primary autosomal recessive microcephaly 22	http://purl.obolibrary.org/obo/DOID_0070296	autosomal recessive primary microcephaly		A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the NCAPD3 gene on chromosome 11q25.
http://purl.obolibrary.org/obo/DOID_0051034	primary autosomal recessive microcephaly 23	http://purl.obolibrary.org/obo/DOID_0070296	autosomal recessive primary microcephaly		A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPH gene on chromosome 2q11.
http://purl.obolibrary.org/obo/DOID_0051035	primary autosomal recessive microcephaly 24	http://purl.obolibrary.org/obo/DOID_0070296	autosomal recessive primary microcephaly		A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NUP37 gene on chromosome 12q23.
http://purl.obolibrary.org/obo/DOID_0051036	primary autosomal recessive microcephaly 25	http://purl.obolibrary.org/obo/DOID_0070296	autosomal recessive primary microcephaly		A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the MAP11 gene on chromosome 7q22.
http://purl.obolibrary.org/obo/DOID_0051037	autosomal dominant primary microcephaly 26	http://purl.obolibrary.org/obo/DOID_0061100	autosomal dominant primary microcephaly		A primary microcephaly that is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development and that has_material_basis_in heterozygous mutation in the LMNB1 gene on chromosome 5q23.
http://purl.obolibrary.org/obo/DOID_0051038	autosomal dominant primary microcephaly 27	http://purl.obolibrary.org/obo/DOID_0061100	autosomal dominant primary microcephaly		A primary microcephaly that is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech and that has_material_basis_in heterozygous mutation in the LMNB2 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0051039	primary autosomal recessive microcephaly 28	http://purl.obolibrary.org/obo/DOID_0070296	autosomal recessive primary microcephaly		A primary autosomal recessive microcephaly that is characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood and that has_material_basis_in homozygous mutation in the RRP7A gene on chromosome 22q13.
http://purl.obolibrary.org/obo/DOID_0051040	primary autosomal recessive microcephaly 29	http://purl.obolibrary.org/obo/DOID_0070296	autosomal recessive primary microcephaly		A primary autosomal recessive microcephaly that is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the PDCD6IP gene on chromosome 3p22.
http://purl.obolibrary.org/obo/DOID_0051041	primary autosomal recessive microcephaly 30	http://purl.obolibrary.org/obo/DOID_0070296	autosomal recessive primary microcephaly		A primary autosomal recessive microcephaly that is characterized by small head circumference, poor overall growth, and global developmental delay with variably impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1 gene on chromosome 2q13.
http://purl.obolibrary.org/obo/DOID_0061025	familial restrictive cardiomyopathy 6	http://purl.obolibrary.org/obo/DOID_397	restrictive cardiomyopathy		A restrictive cardiomyopathy characterized by prenatal onset of severe restrictive cardiomyopathy predominantly involving the right ventricle, resulting in irreversible heart failure and early death that has_material_basis_in compound heterozygous mutation in the KIF20A gene on chromosome 5q31.
http://purl.obolibrary.org/obo/DOID_0061026	hereditary pyropoikilocytosis	http://purl.obolibrary.org/obo/DOID_583	hemolytic anemia		A hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells that has_material_basis_in mutation in the alpha-spectrin or the beta-spectrin gene.
http://purl.obolibrary.org/obo/DOID_0061027	Duane retraction syndrome 1	http://purl.obolibrary.org/obo/DOID_12557	Duane retraction syndrome		A Duane retraction syndrome that has_material_basis_in loci that maps to chromosome 8q13.
http://purl.obolibrary.org/obo/DOID_0061028	Duane retraction syndrome 2	http://purl.obolibrary.org/obo/DOID_12557	Duane retraction syndrome		A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the CHN1 gene on chromosome 2q31.
http://purl.obolibrary.org/obo/DOID_0061029	Duane retraction syndrome 3	http://purl.obolibrary.org/obo/DOID_12557	Duane retraction syndrome		A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12.
http://purl.obolibrary.org/obo/DOID_0061030	hemophilia	http://purl.obolibrary.org/obo/DOID_1247	blood coagulation disease		A blood coagulation disease characterized by spontaneous hemorrhage or prolonged bleeding.
http://purl.obolibrary.org/obo/DOID_0061103	retinitis pigmentosa 76	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.
http://purl.obolibrary.org/obo/DOID_0061104	retinitis pigmentosa 96	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa characterized by difficulty with night vision and progressive visual field constriction beginning as early as the third decade of life, but most patients retain good visual acuity into the seventh decade that has_material_basis_in heterozygous mutation in the SAG gene on chromosome 2q37.
http://purl.obolibrary.org/obo/DOID_0061105	retinitis pigmentosa 93	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa characterized by mild to moderate rod-cone dystrophy with onset in the second or third decade of life. Patients have constricted visual fields with macular sparing and show mildly reduced visual acuity with mild to high myopia that has_material_basis_in compound heterozygous mutation in the CC2D2A gene on chromosome 4p15.
http://purl.obolibrary.org/obo/DOID_0061106	retinitis pigmentosa 91	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa characterized by night blindness and constriction of visual fields, with bone-spicule pigmentation, attenuation of retinal vessels, and optic disc pallor on funduscopy that has_material_basis_in heterozygous mutation in the IMPG1 gene on chromosome 6q14.
http://purl.obolibrary.org/obo/DOID_0061107	retinitis pigmentosa 92	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa characterized by relatively mild disease, with onset of night blindness and vision loss in the third to sixth decades of life that has_material_basis_in homozygous mutation in the HKDC1 gene on chromosome 10q22.
http://purl.obolibrary.org/obo/DOID_0061108	retinitis pigmentosa 79	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in heterozygous mutation in the HK1 gene on chromosome 10q22.
http://purl.obolibrary.org/obo/DOID_0061109	retinitis pigmentosa 98	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa characterized by onset of night blindness in early childhood, with gradual loss of peripheral vision and later of central vision that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM216 gene on chromosome 11q12.
http://purl.obolibrary.org/obo/DOID_0061110	retinitis pigmentosa 97	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa characterized by onset of night blindness and visual field defects in the first decade of life, with later onset of reduced visual acuity that has_material_basis_in heterozygous mutation in the VWA8 gene on chromosome 13q14.
http://purl.obolibrary.org/obo/DOID_0061111	retinitis pigmentosa 80	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.
http://purl.obolibrary.org/obo/DOID_0061112	retinitis pigmentosa 95	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa characterized by pale optic discs, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the RAX2 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0061113	retinitis pigmentosa 78	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa characterized by central visual disturbance, visual field defects, and nyctalopia that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF18 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0061114	autosomal recessive intellectual developmental disorder 83	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder characterized by global developmental delay with mildly delayed walking (by a few years), mild to moderate intellectual disability, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the KICS2 gene on chromosome 12q14.
http://purl.obolibrary.org/obo/DOID_0061115	Carey-Fineman-Ziter syndrome 1	http://purl.obolibrary.org/obo/DOID_0080194	Carey-Fineman-Ziter syndrome		A Carey-Fineman-Ziter syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the MYMK gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0061116	Carey-Fineman-Ziter syndrome 2	http://purl.obolibrary.org/obo/DOID_0080194	Carey-Fineman-Ziter syndrome		A Carey-Fineman-Ziter syndrome characterized by motor developmental delay, facial weakness, hypotonia, growth restriction, feeding difficulties, and velopharyngeal insufficiency that has_material_basis_inhomozygous mutation in MYMX gene on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0061117	Perrault syndrome 2	http://purl.obolibrary.org/obo/DOID_0050857	Perrault syndrome		A Perrault syndrome that is characterized by sensorineural deafness in both males and females that has_material_basis_in compound heterozygous mutation in the HARS2 gene on chromosome 5q31.
http://purl.obolibrary.org/obo/DOID_0061118	autosomal dominant tubulointerstitial kidney disease 2	http://purl.obolibrary.org/obo/DOID_0060062	autosomal dominant tubulointerstitial kidney disease		An autosomal dominant tubulointerstitial kidney disease characterized by adult onset of impaired renal function and salt wasting resulting in chronic renal insufficiency and end-stage renal failure by the sixth decade that has_material_basis_in eterozygous mutation in the MUC1 gene on chromosome 1q22.
http://purl.obolibrary.org/obo/DOID_0061119	autosomal dominant tubulointerstitial kidney disease 4	http://purl.obolibrary.org/obo/DOID_0060062	autosomal dominant tubulointerstitial kidney disease		An autosomal dominant tubulointerstitial kidney disease characterized by early-onset anemia and increased serum uric acid with a bland urinalysis and without proteinuria that has_material_basis_in heterozygous mutation in the renin gene on chromosome 1q32.
http://purl.obolibrary.org/obo/DOID_0061120	autosomal dominant tubulointerstitial kidney disease 5	http://purl.obolibrary.org/obo/DOID_0060062	autosomal dominant tubulointerstitial kidney disease		An autosomal dominant tubulointerstitial kidney disease characterized by the onset of progressive chronic renal disease in the first decades of life that has_material_basis_in heterozygous mutation in the SEC61A1 gene on chromosome 3q21.
http://purl.obolibrary.org/obo/DOID_0061121	autosomal dominant tubulointerstitial kidney disease 6	http://purl.obolibrary.org/obo/DOID_0060062	autosomal dominant tubulointerstitial kidney disease		An autosomal dominant tubulointerstitial kidney disease characterized by the onset of slowly progressive chronic renal failure beginning in mid-to-late adulthood that has_material_basis_in heterozygous mutation in the APOA4 gene on chromosome 11q23.
http://purl.obolibrary.org/obo/DOID_0061122	autosomal dominant tubulointerstitial kidney disease 1	http://purl.obolibrary.org/obo/DOID_0060062	autosomal dominant tubulointerstitial kidney disease		An autosomal dominant tubulointerstitial kidney disease characterized by elevated serum uric acid (hyperuricemia) due to low fractional excretion of uric acid, defective urinary concentrating ability, 'bland' urinary sediment, and progression to end-stage renal failure that has_material_basis_in heterozygous mutation in the gene encoding uromodulin on chromosome 16p12.
http://purl.obolibrary.org/obo/DOID_0070634	sitosterolemia 1	http://purl.obolibrary.org/obo/DOID_0090019	sitosterolemia		A sitosterolemia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene on chromosome 2p21.
http://purl.obolibrary.org/obo/DOID_0051078	congenital anomalies of the kidney and urinary tract 3	http://purl.obolibrary.org/obo/DOID_0080205	congenital anomalies of kidney and urinary tract		A congenital anomalies of the kidney and urinary tract that has_material_basis_in heterozygous mutation in the NRIP1 gene on chromosome 21q11-q21.
http://purl.obolibrary.org/obo/DOID_0051079	monogenic chronic kidney disease	http://purl.obolibrary.org/obo/DOID_0050177	monogenic disease		A chronic kidney disease that has_material_basis_in a mutation in a single gene.
http://purl.obolibrary.org/obo/DOID_0051080	Alport syndrome 3B	http://purl.obolibrary.org/obo/DOID_10983	Alport syndrome		An Alport syndrome that is characterized by glomerular basement membrane abnormalities and that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 gene on chromosome 2q36. Sensorineural hearing loss and ocular manifestations may be present.
http://purl.obolibrary.org/obo/DOID_0051081	polycystic kidney disease 8	http://purl.obolibrary.org/obo/DOID_898	autosomal dominant polycystic kidney disease		An autosomal dominant polycystic kidney disease that is characterized by enlarged kidneys, arterial hypertension, and kidney failure and that has_material_basis_in heterozygous mutation in the NEK8 gene on chromosome 17q11.
http://purl.obolibrary.org/obo/DOID_0051082	Parkinson's disease 27	http://purl.obolibrary.org/obo/DOID_14330	Parkinson's disease		A Parkinson's disease that has_material_basis_in mutation in the GBA1 gene on chromosome 1q22.
http://purl.obolibrary.org/obo/DOID_0061271	liver glycogen storage disease	http://purl.obolibrary.org/obo/DOID_2747	glycogen storage disease		A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GYS2 gene which encodes glycogen synthase-2, on chromosome 12p12.
http://purl.obolibrary.org/obo/DOID_0061272	muscle glycogen storage disease	http://purl.obolibrary.org/obo/DOID_2747	glycogen storage disease		A glycogen storage disease charaterized by childhood-onset condition with exercise intolerance, arrhythmia, cardiomyopathy, and sudden death that has_material_basis_in homozygous mutation in the GYS1 gene which encodes muscle glycogen synthase, on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0061285	glycogen storage disease X	http://purl.obolibrary.org/obo/DOID_2747	glycogen storage disease		A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the PGAM2 gene, which encodes muscle phosphoglycerate mutase, on chromosome 7p13.
http://purl.obolibrary.org/obo/DOID_0061286	glycogen storage disease XI	http://purl.obolibrary.org/obo/DOID_2747	glycogen storage disease		A glycogen storage disease that has_material_basis_in homozygous mutation in the LDHA gene, which encodes lactate dehydrogenase, on chromosome 11p15.
http://purl.obolibrary.org/obo/DOID_0061287	glycogen storage disease XII	http://purl.obolibrary.org/obo/DOID_2747	glycogen storage disease		A glycogen storage disease that has_material_basis_in homozygous mutation in the ALDOA gene which encodes fructose-1,6-bisphosphate aldolase A, on chromosome 16p11.
http://purl.obolibrary.org/obo/DOID_0061288	glycogen storage disease XIII	http://purl.obolibrary.org/obo/DOID_2747	glycogen storage disease		A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the ENO3 gene, which encodes beta-enolase, on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0061289	Galloway-Mowat syndrome 6	http://purl.obolibrary.org/obo/DOID_0080694	Galloway-Mowat syndrome		A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the WDR4 gene on chromosome 21q22.
http://purl.obolibrary.org/obo/DOID_0061290	Galloway-Mowat syndrome 7	http://purl.obolibrary.org/obo/DOID_0080694	Galloway-Mowat syndrome		A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15.
http://purl.obolibrary.org/obo/DOID_0061291	Galloway-Mowat syndrome 8	http://purl.obolibrary.org/obo/DOID_0080694	Galloway-Mowat syndrome		A Galloway-Mowat syndrome characterized by impaired psychomotor development, poor overall growth with microcephaly, and early-onset progressive nephrotic syndrome associated with focal segmental glomerulosclerosis on renal biopsy that has_material_basis_in homozygous mutation in the NUP133 gene on chromosome 1q42.
http://purl.obolibrary.org/obo/DOID_0061292	Galloway-Mowat syndrome 9	http://purl.obolibrary.org/obo/DOID_0080694	Galloway-Mowat syndrome		A Galloway-Mowat syndrome characterized by onset of nephrotic syndrome with proteinuria in infancy or early childhood that has_material_basis_in homozygous mutation in the GON7 gene on chromosome 14q32.
http://purl.obolibrary.org/obo/DOID_0061293	Galloway-Mowat syndrome 10	http://purl.obolibrary.org/obo/DOID_0080694	Galloway-Mowat syndrome		A Galloway-Mowat syndrome characterized by onset of symptoms soon after birth that has_material_basis_in homozygous or compound heterozygous mutation in the YRDC gene on chromosome 1p34.
http://purl.obolibrary.org/obo/DOID_0061294	Meckel syndrome 9	http://purl.obolibrary.org/obo/DOID_0050778	Meckel syndrome		A Meckel syndrome that has_material_basis_in compound heterozygous mutation in the B9D1 gene on chromosome 17p11.2.
http://purl.obolibrary.org/obo/DOID_0061295	Meckel syndrome 10	http://purl.obolibrary.org/obo/DOID_0050778	Meckel syndrome		A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D2 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0061296	Meckel syndrome 11	http://purl.obolibrary.org/obo/DOID_0050778	Meckel syndrome		A Meckel syndrome that has_material_basis_in homozygous mutation in the TMEM231 gene on chromosome 16q23.
http://purl.obolibrary.org/obo/DOID_0061297	Meckel syndrome 12	http://purl.obolibrary.org/obo/DOID_0050778	Meckel syndrome		A Meckel syndrome that has_material_basis_in a compound heterozygous mutation in the KIF14 gene on chromosome 1q31.
http://purl.obolibrary.org/obo/DOID_0061298	retinitis pigmentosa 100	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa characterized by the onset of night blindness in childhood or young adulthood, followed by progressive visual field constriction and that has_material_basis_in compound heterozygous mutation in the TBC1D32 gene on chromosome 6q22.
http://purl.obolibrary.org/obo/DOID_0061299	retinitis pigmentosa 101	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa charaterized by macular edema, mild intraretinal pigment migration, and eventual widespread retinal atrophy that has_material_basis_in compound heterozygous or homozygous mutation in the CLN3 gene on chromosome 16p12.
http://purl.obolibrary.org/obo/DOID_0061300	Hermansky-Pudlak syndrome 10	http://purl.obolibrary.org/obo/DOID_3753	Hermansky-Pudlak syndrome		A Hermansky-Pudlak syndrome characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures that has_material_basis_in homozygous mutation in the AP3D1 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0061301	Hermansky-Pudlak syndrome 11	http://purl.obolibrary.org/obo/DOID_3753	Hermansky-Pudlak syndrome		A Hermansky-Pudlak syndrome characterized by mild oculocutaneous albinism in association with a moderate bleeding diathesis that has_material_basis_in homozygous mutation in the BLOC1S5 gene on chromosome 6p24.
http://purl.obolibrary.org/obo/DOID_0070681	congenital hydrocephalus	http://purl.obolibrary.org/obo/DOID_10908	hydrocephalus		A hydrocephalus characterized by fetal or congenital onset.
http://purl.obolibrary.org/obo/DOID_0070682	congenital hydrocephalus 1	http://purl.obolibrary.org/obo/DOID_0070681	congenital hydrocephalus		A congenital hydrocephalus that has_material_basis_in homozygous mutation in the CCDC88C gene on chromosome 14q32.
http://purl.obolibrary.org/obo/DOID_0070683	congenital hydrocephalus 2	http://purl.obolibrary.org/obo/DOID_0070681	congenital hydrocephalus		A congenital hydrocephalus that has_material_basis_in homozygous mutation in the MPDZ gene on chromosome 9p23.
http://purl.obolibrary.org/obo/DOID_0070684	congenital hydrocephalus 3	http://purl.obolibrary.org/obo/DOID_0070681	congenital hydrocephalus		A congenital hydrocephalus that has_material_basis_in homozygous mutation in the WDR81 gene on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0070685	congenital hydrocephalus 4	http://purl.obolibrary.org/obo/DOID_0070681	congenital hydrocephalus		A congenital hydrocephalus that has_material_basis_in heterozygous mutation in the TRIM71 gene on chromosome 3p22.
http://purl.obolibrary.org/obo/DOID_0070686	X-linked congenital hydrocephalus	http://purl.obolibrary.org/obo/DOID_0070681	congenital hydrocephalus		A congenital hydrocephalus that has_material_basis_in homozygous mutation in the L1CAM gene on chromosome Xq28. Additional features include stenosis of the aqueduct of Sylvius, adducted thumbs, spastic paraparesis and impaired intellectual development.
http://purl.obolibrary.org/obo/DOID_0070687	normal pressure hydrocephalus 1	http://purl.obolibrary.org/obo/DOID_1572	normal pressure hydrocephalus		A normal pressure hydrocephalus that has_material_basis_in heterozygous mutation in the CFAP43 gene on chromosome 10q25.
http://purl.obolibrary.org/obo/DOID_0070688	autosomal recessive congenital indifference to pain	http://purl.obolibrary.org/obo/DOID_870	neuropathy		A neuropathy characterized by complete absence of pain perception with no impairment of other sensory, motor, or autonomic modalities that has_material_basis_in homozygous or compound heterozygous loss-of-function mutation in the SCN9A gene on chromosome 2q24. Hyposmia or anosmia is also common.
http://purl.obolibrary.org/obo/DOID_0070689	hereditary sensory and autonomic neuropathy type 2D	http://purl.obolibrary.org/obo/DOID_0070161	hereditary sensory and autonomic neuropathy type 2		A hereditary sensory and autonomic neuropathy type 2 characterized by congenital to pediatric onset of distal loss of pain and temperature sensation and variable autonomic dysfunction that has_material_basis_in homozygous loss-of-function mutation in the SCN9A gene on chromosome 2q24.
http://purl.obolibrary.org/obo/DOID_0070690	lobodontia	http://purl.obolibrary.org/obo/DOID_1091	tooth disease		A tooth disease characterized by supernumerary cusps and a single pyramid-shaped molar root that has_material_basis_in heterozygous mutation in the ASCL5 gene on chromosome 1q32. Canines and premolars may show a tritubercular structure or prominent cusp tips.
http://purl.obolibrary.org/obo/DOID_0070691	craniosynostosis-scoliosis syndrome	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A vitamin metabolic disorder characterized by coronal craniosynostosis and thoracolumbar scoliosis, in association with facial dysmorphisms including midface hypoplasia and hypertelorism, and congenital heart disease, mostly atrial septal defect that has_material_basis_in homozygous mutation in the DHRS3 gene on chromosome 1p36, resulting in pathological excess of plasma retinoic acid.
http://purl.obolibrary.org/obo/DOID_0070692	Davis-Wells syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by mild cognitive impairment, dysmorphism featuring oculoauricular abnormalities, and developmental defects involving genitourinary and digestive tracts that has_material_basis_in homozygous or compound heterozygous mutation in the CACHD1 gene on chromosome 1p31.
http://purl.obolibrary.org/obo/DOID_0070693	Ebstein-Bezieau neurodevelopmental syndrome	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		A autosomal dominant intellectual developmental disorder characterized by neurodevelopmental delay, intellectual disability, and varying congenital malformations, most commonly skeletal and cardiac, that has_material_basis_in heterozygous mutation in the PSMC3 gene on chromosome 11p13.
http://purl.obolibrary.org/obo/DOID_0070694	neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		A autosomal dominant intellectual developmental disorder characterized by global developmental delay with hypotonia, mildly delayed walking and speech acquisition, impaired intellectual development ranging from learning difficulties to severe cognitive impairment, behavioral abnormalities or autistic features, and congenital heart defects that has_material_basis_in heterozygous mutation in the KDM2B gene on chromosome 12q24.
http://purl.obolibrary.org/obo/DOID_0070695	Yu-Kury neurodevelopmental syndrome	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder characterized by developmental delay, speech delay, motor delay, and intellectual disability that has_material_basis_in heterozygous mutation in the PSMC5 gene on chromosome 12q23.
http://purl.obolibrary.org/obo/DOID_0070696	neurodevelopmental disorder with seizures, hypotonia, and variable spasticity	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder characterized by global developmental delay with limited or no speech, intellectual disability, ataxia-dystonia, and epilepsy that has_material_basis_in homozygous mutation in the PGBD5 gene on chromosome 1q42.
http://purl.obolibrary.org/obo/DOID_0070697	neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder characterized by mild to moderate global developmental delay, mildly to moderately impaired intellectual development, and progressive spasticity of the lower limbs with hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutations in the RPS6KC1 gene on chromosome 1q32.
http://purl.obolibrary.org/obo/DOID_0070698	X-linked neurodevelopmental disorder with poor or absent speech and behavioral abnormalities	http://purl.obolibrary.org/obo/DOID_0080009	X-linked dominant disease		A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, hypotonia with delayed walking or inability to walk, severe-to-profound intellectual disability with poor or absent speech, and early-onset epilepsy that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11. Females may be less severely affected than males.
http://purl.obolibrary.org/obo/DOID_0070699	STAD syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by a skeletal dysplasia consisting of advanced bone maturation, short and dysplastic bones, and disproportionate body measurements; facial dysmorphisms and dental anomalies; and neurodevelopmental delays ranging in severity from isolated fine motor delays to impaired intellectual development that has_material_basis_in heterozygous mutation in the PTBP1 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0070700	Luo-Agrawal neurodevelopmental syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by neurodevelopmental delay, hypotonia, dysmorphic features, and growth restriction with or without structural brain abnormalities that has_material_basis_in homozygous mutation in the WSB2 gene on chromosome 12q24.
http://purl.obolibrary.org/obo/DOID_0070701	small fiber neuropathy	http://purl.obolibrary.org/obo/DOID_870	neuropathy		A neuropathy that solely or predominantly affects small myelinated A-delta (Aδ) fibers and unmyelinated C fibers resulting in sensory changes, autonomic dysfunction, or both. Common symptoms include burning, sharp and/or deep pain, allodynia, hyperalgesia, thermal and pinprick hypoesthesia, dry mouth, dry eyes, constipation, bladder incontinence, orthostatic dizziness, sexual dysfunction, red or white skin discoloration, or trouble sweating.
http://purl.obolibrary.org/obo/DOID_0070702	measles inclusion body encephalitis	http://purl.obolibrary.org/obo/DOID_646	viral encephalitis		A viral encephalitis that has_material_basis_in measles virus (Morbillivirus hominis) and occurs in immunocompromised patients with acute onset of progressive seizures days to months after infection or vaccination with the live-attenuated vaccine, resulting near universally in death.
http://purl.obolibrary.org/obo/DOID_0070703	Meckel syndrome 14	http://purl.obolibrary.org/obo/DOID_0050778	Meckel syndrome		A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TXNDC15 gene on chromosome 5q31.
http://purl.obolibrary.org/obo/DOID_0081462	Zeitz-Han retinal dystrophy	http://purl.obolibrary.org/obo/DOID_8466	retinal degeneration		A retinal degeneration that is characterized by a variable retinal phenotypes, predominantly described as rod-cone dystrophy with some patients clinically diagnosed as having retinitis pigmentosa, but also including cases of cone-rod and cone dystrophy and that has_material_basis_in homozygous or compound heterozygous mutation in the ubiquitin-associated protein (UBAP1L) gene on chromosome 15q22.
http://purl.obolibrary.org/obo/CHEBI_33229	vitamin (role)	http://purl.obolibrary.org/obo/CHEBI_33284	nutrient		A biochemical role played by any micronutrient that is an organic compound. Vitamins are present in foods in small amounts and are essential to normal metabolism and biochemical functions, usually as coenzymes.
http://purl.obolibrary.org/obo/CHEBI_164200	triclosan	http://purl.obolibrary.org/obo/CHEBI_138015	endocrine disruptor		An aromatic ether that is phenol which is substituted at C-5 by a chloro group and at C-2 by a 2,4-dichlorophenoxy group. It is widely used as a preservative and antimicrobial agent in personal care products such as soaps, skin creams, toothpaste and deodorants as well as in household items such as plastic chopping boards, sports equipment and shoes.
http://purl.obolibrary.org/obo/CHEBI_26092	phthalate	http://purl.obolibrary.org/obo/CHEBI_138015	endocrine disruptor		An endocrine disruptor that is phthalate, used to make plastics more flexible, they are also found in some food packaging, cosmetics, children’s toys, and medical devices. A family of benzene derivatives that are formed by esterification of phthalic acid. Phthalates are added to increase the flexibility and softness of commercial plastics, which are incorporated into a wide variety of consumer goods. Ingested phthalates may exhibit estrogenic or antiandrogenic effects or they may act as endocrine disruptors.
http://purl.obolibrary.org/obo/CHEBI_46661	asbestos	http://purl.obolibrary.org/obo/DISDRIV_0000006	chemical driver		Fibrous incombustible mineral composed of magnesium and calcium silicates with or without other elements.
http://purl.obolibrary.org/obo/CHEBI_53218	diphenylmethane-4,4'-diisocyanate	http://purl.obolibrary.org/obo/DISDRIV_0000006	chemical driver		A diisocyanate consisting of diphenylmethane with two isocyanate groups at the 4- and 4'-positions.
http://purl.obolibrary.org/obo/HP_0011460	Embryonal onset	http://purl.obolibrary.org/obo/HP_0003674	onset		Onset of disease at up to 8 weeks following fertilization (corresponding to 10 weeks of gestation).
http://purl.obolibrary.org/obo/HP_0011461	Fetal onset	http://purl.obolibrary.org/obo/HP_0003674	onset		Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks).
http://purl.obolibrary.org/obo/HP_0011462	Young adult onset	http://purl.obolibrary.org/obo/HP_0003674	onset		Onset of disease at the age of between 16 and 40 years.
http://purl.obolibrary.org/obo/HP_0011463	Childhood onset	http://purl.obolibrary.org/obo/HP_0410280	Pediatric onset		Onset of disease at the age of between 1 and 5 years.
http://purl.obolibrary.org/obo/TRANS_0000001	direct transmission	http://purl.obolibrary.org/obo/TRANS_0000000	transmission process		Direct transmission is a transmission process that is the means during which the pathogen is transmitted immediately from a reservoir, source or host to another host.
http://purl.obolibrary.org/obo/TRANS_0000002	indirect transmission	http://purl.obolibrary.org/obo/TRANS_0000000	transmission process		Indirect transmission is a transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by intermediary vehicles, vectors or as airborne dust particles.
http://purl.obolibrary.org/obo/TRANS_0000006	congenital transmission	http://purl.obolibrary.org/obo/TRANS_0000001	direct transmission		Congenital transmission is a direct transmission process during which the pathogen is transmitted directly from mother to child at or around the time of birth.
http://purl.obolibrary.org/obo/TRANS_0000007	contact transmission	http://purl.obolibrary.org/obo/TRANS_0000001	direct transmission		Contact transmission is a direct transmission process during which the pathogen is transmitted from a reservoir, source or host to another host by kissing, skin-to-skin contact, sexual intercourse, or by contact with soil or vegetation containing the pathogen.
http://purl.obolibrary.org/obo/TRANS_0000008	droplet spread transmission	http://purl.obolibrary.org/obo/TRANS_0000001	direct transmission		Droplet spread transmission is a direct transmission process during which the pathogen is transmitted from a reservoir, source or host to another host by spray of aerosols over a short distance, spray from sneezing, coughing or talking.
http://purl.obolibrary.org/obo/TRANS_0000012	vehicle-borne ingestion transmission	http://purl.obolibrary.org/obo/TRANS_0000010	vehicle-borne transmission		Vehicle-borne ingestion transmission is an indirect vehicle-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by ingestion of fluids or foods or food products including: food, water, milk, or meat products.
http://purl.obolibrary.org/obo/SYMP_0000162	tremor	http://purl.obolibrary.org/obo/SYMP_0000567	general symptom		Tremor is a generial symptom characterized by a trembling or shaking usually from physical weakness, emotional stress, or disease.
http://purl.obolibrary.org/obo/SYMP_0000568	short stature	http://purl.obolibrary.org/obo/SYMP_0000464	lack of expected normal physiological development in childhood		A lack of expected normal physiological development in childhood that is characterized by an individual's height being in the 3rd percentile for the mean height of a given age, sex, and population group.
http://purl.obolibrary.org/obo/SYMP_0000306	inability to feed	http://purl.obolibrary.org/obo/SYMP_0000522	feeding difficulties and mismanagement		A feeding difficulties and mismanagement that is characterized by a lack of feeding capacity.
http://purl.obolibrary.org/obo/SYMP_0000594	abnormal involuntary movement	http://purl.obolibrary.org/obo/SYMP_0000480	nervous system symptom		A nervous system symptom that is characterized by an inability to control bodily movement and may be a symptom of cerebrovascular diseases, dyskinesia, tremor, chorea, dystonia and myoclonus.
http://purl.obolibrary.org/obo/NCIT_C79660	Pollen	http://purl.obolibrary.org/obo/CHEBI_50904	allergen		The male genetic material of a seed plant contained in the anther, usually appearing as fine grains or dust.
http://purl.obolibrary.org/obo/DOID_0080210	primary mediastinal B-cell lymphoma	http://purl.obolibrary.org/obo/DOID_0081452	large B-cell lymphoma		A large B-cell lymphoma that is is characterized by a diffuse proliferation of medium to large B-cells associated with sclerosis.
http://purl.obolibrary.org/obo/DOID_0080211	nodal marginal zone lymphoma	http://purl.obolibrary.org/obo/DOID_0050748	marginal zone lymphoma		A marginal zone B-cell lymphoma which morphologically resembles lymph nodes involved by marginal zone lymphomas of extranodal or splenic types, but without evidence of extranodal or splenic disease.
http://purl.obolibrary.org/obo/DOID_0080212	polycystic kidney disease 4	http://purl.obolibrary.org/obo/DOID_0110861	autosomal recessive polycystic kidney disease		A autosomal recessive polycystic kidney disease that has_material_basis_in mutation in the PKD4 gene.
http://purl.obolibrary.org/obo/DOID_0080213	punctate palmoplantar keratoderma type II	http://purl.obolibrary.org/obo/DOID_0060361	punctate palmoplantar keratoderma		A punctate palmoplantar keratoderma that is characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections on the palms, soles and digits.
http://purl.obolibrary.org/obo/DOID_0080214	punctate palmoplantar keratoderma type I	http://purl.obolibrary.org/obo/DOID_0060361	punctate palmoplantar keratoderma		A punctate palmoplantar keratoderma that is characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles.
http://purl.obolibrary.org/obo/DOID_0080215	developmental and epileptic encephalopathy 8	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1.
http://purl.obolibrary.org/obo/DOID_0080216	duodenal atresia	http://purl.obolibrary.org/obo/DOID_10486	intestinal atresia		An intestinal atresia that is characterized by congenital absence or complete closure of a portion of the lumen of the duodenum.
http://purl.obolibrary.org/obo/DOID_0080217	lysosomal acid lipase deficiency	http://purl.obolibrary.org/obo/DOID_9455	lipid storage disease		A lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that has_material_basis_in homozygous or compound heterozygous mutation in the LIPA gene on chromosome 10q23.31.
http://purl.obolibrary.org/obo/DOID_0080218	primary spontaneous pneumothorax	http://purl.obolibrary.org/obo/DOID_1673	pneumothorax		A pneumothorax that is characterized by an abnormal accumulation of air in the space between the lungs and the chest cavity that can result in the partial or complete collapse of a lung.
http://purl.obolibrary.org/obo/DOID_0080219	dystransthyretinemic hyperthyroxinemia	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A hyperthyroxinemia that is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals and that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12.
http://purl.obolibrary.org/obo/DOID_0080222	pseudohypoparathyroidism type 1B	http://purl.obolibrary.org/obo/DOID_4184	pseudohypoparathyroidism		A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has_material_basis_in mutations that alter the methylation pattern of GNAS on 20q13.32. Mutations in GNAS, GNAS-AS1, and STX16 have been shown to alter the methylation pattern of GNAS.
http://purl.obolibrary.org/obo/DOID_0080223	epidermolytic palmoplantar keratoderma	http://purl.obolibrary.org/obo/DOID_3390	palmoplantar keratosis		A palmoplantar keratosis that is characterized by marked hyperkeratosis on the surface of palms and soles.
http://purl.obolibrary.org/obo/DOID_0080224	autosomal dominant dystrophic epidermolysis bullosa	http://purl.obolibrary.org/obo/DOID_4959	epidermolysis bullosa dystrophica		An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen.
http://purl.obolibrary.org/obo/DOID_0080225	amyotrophic lateral sclerosis type 23	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22.
http://purl.obolibrary.org/obo/DOID_0080226	autosomal dominant intellectual developmental disorder 56	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23.
http://purl.obolibrary.org/obo/DOID_0080227	autosomal dominant intellectual developmental disorder 55	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that is characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous mutation in the NUS1 gene on chromosome 6q22.
http://purl.obolibrary.org/obo/DOID_0080228	autosomal dominant intellectual developmental disorder 53	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2A gene on chromosome 5q32.
http://purl.obolibrary.org/obo/DOID_0080230	autosomal dominant intellectual developmental disorder 54	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2B gene on chromosome 7p13.
http://purl.obolibrary.org/obo/DOID_0080231	autosomal dominant intellectual developmental disorder 52	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the ASH1L gene on chromosome 1q22.
http://purl.obolibrary.org/obo/DOID_0080232	autosomal dominant intellectual developmental disorder 51	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KMT5B gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0080233	autosomal dominant intellectual developmental disorder 50	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the NAA15 gene on chromosome 4q31.
http://purl.obolibrary.org/obo/DOID_0080234	Clark-Baraitser syndrome	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36.
http://purl.obolibrary.org/obo/DOID_0080235	autosomal dominant intellectual developmental disorder 48	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the RAC1 gene on chromosome 7p22.
http://purl.obolibrary.org/obo/DOID_0080236	autosomal dominant intellectual developmental disorder 45	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CIC gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0080237	autosomal dominant intellectual developmental disorder 46	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14.
http://purl.obolibrary.org/obo/DOID_0080238	autosomal dominant intellectual developmental disorder 47	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the STAG1 gene on chromosome 3q22.
http://purl.obolibrary.org/obo/DOID_0080239	autosomal recessive intellectual developmental disorder 61	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the RUN and SH3 domain containing 2 gene (RUSC2) on chromosome 9p13.
http://purl.obolibrary.org/obo/DOID_0080240	non-syndromic X-linked intellectual disability 106	http://purl.obolibrary.org/obo/DOID_0050776	non-syndromic X-linked intellectual disability		A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in OGT on chromosome Xq13.1.
http://purl.obolibrary.org/obo/DOID_0080241	syndromic X-linked mental retardation 35	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A syndromic X-linked intellectual disability that has_material_basis_in mutation in the RPL10 gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0080242	syndromic X-linked mental retardation Hough type	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked intellectual disability that is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures and that has_material_basis_in hemizygous or heterozygous mutation in the CNKSR2 gene on chromosome Xp22.
http://purl.obolibrary.org/obo/DOID_0080243	amelogenesis imperfecta type 3B	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An amelogenesis imperfecta type 3 that is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places and that has_material_basis_in heterozygous mutation in the amelotin gene.
http://purl.obolibrary.org/obo/DOID_0080244	Galloway-Mowat syndrome 2	http://purl.obolibrary.org/obo/DOID_0080694	Galloway-Mowat syndrome		A Galloway-Mowat syndrome that has_material_basis_in hemizygous mutation in the LAGE3 gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0080245	Galloway-Mowat syndrome 3	http://purl.obolibrary.org/obo/DOID_0080694	Galloway-Mowat syndrome		A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the OSGEP gene on chromosome 14q11.
http://purl.obolibrary.org/obo/DOID_0080246	Galloway-Mowat syndrome 4	http://purl.obolibrary.org/obo/DOID_0080694	Galloway-Mowat syndrome		A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TP53RK gene on chromosome 20q13.
http://purl.obolibrary.org/obo/DOID_0080247	Galloway-Mowat syndrome 5	http://purl.obolibrary.org/obo/DOID_0080694	Galloway-Mowat syndrome		A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the TPRKB gene on chromosome 2p13.
http://purl.obolibrary.org/obo/DOID_0080248	erythrokeratodermia variabilis et progressiva 2	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An erythrokeratodermia variabilis that is characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location and that has_material_basis_in heterozygous mutation in the gene encoding connexin-30.3 (GJB4) on chromosome 1p34.
http://purl.obolibrary.org/obo/DOID_0080249	erythrokeratodermia variabilis et progressiva 3	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An erythrokeratodermia variabilis that is characterized by normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema and that has_material_basis_in heterozygous mutation in the gene encoding connexin-43 (GJA1) on chromosome 6q22.
http://purl.obolibrary.org/obo/DOID_0080250	erythrokeratodermia variabilis et progressiva 4	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An erythrokeratodermia variabilis that is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet and that has_material_basis_in compound heterozygous mutation in the KDSR gene on chromosome 18q21.
http://purl.obolibrary.org/obo/DOID_0080251	erythrokeratodermia variabilis et progressiva 5	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An erythrokeratodermia variabilis that has_material_basis_in homozygous mutation in the KRT83 gene on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0080252	spastic ataxia 8	http://purl.obolibrary.org/obo/DOID_0050952	spastic ataxia		A spastic ataxia that is characterized by onset of primarily motor dysfunction within the first year of life and that has_material_basis_in homozygous mutation in the NKX6-2 gene on chromosome 8q21.
http://purl.obolibrary.org/obo/DOID_0080253	Meckel syndrome 13	http://purl.obolibrary.org/obo/DOID_0050778	Meckel syndrome		A Meckel syndrome that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality and that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0080254	orofaciodigital syndrome XVI	http://purl.obolibrary.org/obo/DOID_4501	orofaciodigital syndrome		An orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0080255	Meier-Gorlin syndrome 8	http://purl.obolibrary.org/obo/DOID_0060306	Meier-Gorlin syndrome		A Meier-Gorlin syndrome that has_material_basis_in compound heterozygous mutation in the MCM5 gene on chromosome 22q12.
http://purl.obolibrary.org/obo/DOID_0080256	Perrault syndrome 6	http://purl.obolibrary.org/obo/DOID_0050857	Perrault syndrome		A Perrault syndrome that is characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility and that has_material_basis_in homozygous mutation in the ERAL1 gene on chromosome 17q11.
http://purl.obolibrary.org/obo/DOID_0080257	autosomal recessive congenital ichthyosis 13	http://purl.obolibrary.org/obo/DOID_0060655	autosomal recessive congenital ichthyosis		An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous mutation in the SDR9C7 gene on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0080258	autosomal recessive congenital ichthyosis 14	http://purl.obolibrary.org/obo/DOID_0060655	autosomal recessive congenital ichthyosis		An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the SULT2B1 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0080259	autosomal recessive spinocerebellar ataxia 25	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the ATG5 gene on chromosome 6q21.
http://purl.obolibrary.org/obo/DOID_0080260	autosomal recessive spinocerebellar ataxia 26	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia that has_material_basis_in compound heterozygous mutation in the XRCC1 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0080261	autosomal recessive nonsyndromic deafness 106	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the EPS8L2 gene on chromosome 11p15.
http://purl.obolibrary.org/obo/DOID_0080262	autosomal recessive nonsyndromic deafness 107	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in compound heterozygous mutation in the WBP2 gene on chromosome 17q25.
http://purl.obolibrary.org/obo/DOID_0080263	autosomal recessive nonsyndromic deafness 108	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the ROR1 gene on chromosome 1p31.
http://purl.obolibrary.org/obo/DOID_0080264	exudative vitreoretinopathy 7	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the CTNNB1 gene on chromosome 3p22.1.
http://purl.obolibrary.org/obo/DOID_0080265	RENI syndrome	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A familial nephrotic syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the sphingosine-1-phosphate lyase 1 (SGPL1) gene on chromosome 10q21.
http://purl.obolibrary.org/obo/DOID_0080266	primary ciliary dyskinesia 37	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia that has_material_basis_in homozygous mutation in the DNAH1 gene on chromosome 3p21.
http://purl.obolibrary.org/obo/DOID_0080267	autosomal dominant nonsyndromic deafness 71	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the DMXL2 gene on chromosome 15q21.
http://purl.obolibrary.org/obo/DOID_0080268	autosomal dominant nonsyndromic deafness 72	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SLC44A4 gene on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0080269	autosomal dominant nonsyndromic deafness 73	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PTPRQ gene on chromosome 12q21.
http://purl.obolibrary.org/obo/DOID_0080270	autosomal dominant nonsyndromic deafness 34	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44.
http://purl.obolibrary.org/obo/DOID_0080271	nephrotic syndrome type 15	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MAGI2 gene on chromosome 7q21.
http://purl.obolibrary.org/obo/DOID_0080272	nephrotic syndrome type 16	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KANK2 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0080273	polycystic kidney disease 5	http://purl.obolibrary.org/obo/DOID_0110861	autosomal recessive polycystic kidney disease		A autosomal recessive polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of homozygous mutation in the DZIP1L gene on chromosome 3q22.
http://purl.obolibrary.org/obo/DOID_0080274	multiple mitochondrial dysfunctions syndrome 5	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A multiple mitochondrial dysfunctions syndrome that is characterized by progressive neurologic deterioration beginning in early infancy, with affected individuals having no psychomotor development and early-onset seizures with neurologic decline and spasticity, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly 1 gene on chromosome 9q21.
http://purl.obolibrary.org/obo/DOID_0080275	Joubert syndrome 30	http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome		A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC9 gene on chromosome 2q37.
http://purl.obolibrary.org/obo/DOID_0080276	Joubert syndrome 29	http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome		A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0080277	Joubert syndrome 31	http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome		A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23.
http://purl.obolibrary.org/obo/DOID_0080278	Joubert syndrome 32	http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome		A Joubert syndrome that has_material_basis_in homozygous mutation in the SUFU gene on chromosome 10q24.
http://purl.obolibrary.org/obo/DOID_0080279	Joubert syndrome 33	http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome		A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIBF1 gene on chromosome 13q21.
http://purl.obolibrary.org/obo/DOID_0080280	gingival fibromatosis 5	http://purl.obolibrary.org/obo/DOID_0060466	gingival fibromatosis		A gingival fibromatosis that is characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues and that has_material_basis_in heterozygous mutation in the REST gene on chromosome 4q12.
http://purl.obolibrary.org/obo/DOID_0080281	schizophrenia 19	http://purl.obolibrary.org/obo/DOID_5419	schizophrenia		A schizophrenia that has_material_basis_in heterozygous mutation in the RBM12 gene on chromosome 20q11.
http://purl.obolibrary.org/obo/DOID_0080282	developmental and epileptic encephalopathy 56	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has_material_basis_in heterozygous mutation in the YWHAG gene on chromosome 7q11.
http://purl.obolibrary.org/obo/DOID_0080283	developmental and epileptic encephalopathy 55	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22.
http://purl.obolibrary.org/obo/DOID_0080284	developmental and epileptic encephalopathy 57	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31.
http://purl.obolibrary.org/obo/DOID_0080285	developmental and epileptic encephalopathy 58	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21.
http://purl.obolibrary.org/obo/DOID_0080286	spinocerebellar ataxia 44	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the GRM1 gene on chromosome 6q24.
http://purl.obolibrary.org/obo/DOID_0080287	spinocerebellar ataxia 45	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the FAT2 gene on chromosome 5q33.
http://purl.obolibrary.org/obo/DOID_0080288	spinocerebellar ataxia 46	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the PLD3 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0080289	orofaciodigital syndrome XVII	http://purl.obolibrary.org/obo/DOID_4501	orofaciodigital syndrome		An orofaciodigital syndrome that has_material_basis_in homozygous mutation in the INTU gene on chromosome 4q28.
http://purl.obolibrary.org/obo/DOID_0080290	familial erythrocytosis 5	http://purl.obolibrary.org/obo/DOID_10780	primary polycythemia		A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the EPO gene on chromosome 7q21.
http://purl.obolibrary.org/obo/DOID_0080291	developmental and epileptic encephalopathy 59	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22.
http://purl.obolibrary.org/obo/DOID_0080292	retinitis pigmentosa 81	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24.
http://purl.obolibrary.org/obo/DOID_0080293	short-rib thoracic dysplasia 18 with polydactyly	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24.
http://purl.obolibrary.org/obo/DOID_0080294	Charcot-Marie-Tooth disease dominant intermediate G	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the NEFL gene on chromosome 8p21.
http://purl.obolibrary.org/obo/DOID_0080295	short-rib thoracic dysplasia 19 with or without polydactyly	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24.
http://purl.obolibrary.org/obo/DOID_0080296	hypomyelinating leukodystrophy 14	http://purl.obolibrary.org/obo/DOID_0060786	hypomyelinating leukodystrophy		A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13.
http://purl.obolibrary.org/obo/DOID_0080297	Coffin-Siris syndrome 6	http://purl.obolibrary.org/obo/DOID_1925	Coffin-Siris syndrome		A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that has_material_basis_in heterozygous mutation in the ARID2 gene on chromosome 12q12.
http://purl.obolibrary.org/obo/DOID_0080298	complete generalized lipodystrophy	http://purl.obolibrary.org/obo/DOID_811	lipodystrophy		A lipodystrophy that is characterized by complete loss of adipose tissue.
http://purl.obolibrary.org/obo/DOID_0080299	partial lipodystrophy	http://purl.obolibrary.org/obo/DOID_811	lipodystrophy		A lipodystrophy that is characterized by partial loss of adipose tissue.
http://purl.obolibrary.org/obo/DOID_0080300	acquired generalized lipodystrophy	http://purl.obolibrary.org/obo/DOID_0080298	complete generalized lipodystrophy		A complete generalized lipodystrophy that is characterized by generalized disappearance of fat occurring during childhood and adolescence where normal body fat is present at birth.
http://purl.obolibrary.org/obo/DOID_0080301	atypical hemolytic-uremic syndrome	http://purl.obolibrary.org/obo/DOID_626	complement deficiency		A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.
http://purl.obolibrary.org/obo/DOID_0080302	mixed sleep apnea	http://purl.obolibrary.org/obo/DOID_0050847	sleep apnea		A sleep apnea that is characterized by a combination of central and obstructive sleep apnea.
http://purl.obolibrary.org/obo/DOID_0080303	mucinous lung adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3910	lung adenocarcinoma		A lung adenocarcinoma with tumor cells floating in pools of mucin that distend alveolar spaces.
http://purl.obolibrary.org/obo/DOID_0080304	lung mucinous cystadenocarcinoma	http://purl.obolibrary.org/obo/DOID_3910	lung adenocarcinoma		A lung adenocarcinoma that is a very rare malignant mucus-producing neoplasm arising from the uncontrolled growth of transformed epithelial cells originating in lung tissue.
http://purl.obolibrary.org/obo/DOID_0080305	signet ring lung adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3910	lung adenocarcinoma		A lung adenocarcinoma containing a signet cell ring component characterized by abundant intracellular mucin accumulation and a displaced crescentic nucleus.
http://purl.obolibrary.org/obo/DOID_0080306	solid adenocarcinoma with mucin production	http://purl.obolibrary.org/obo/DOID_3910	lung adenocarcinoma		A lung adenocarcinoma that lacks acini, tubules, and papillae, and contains many mucin-containing cells.
http://purl.obolibrary.org/obo/DOID_60001	pulmonary artery disease	http://purl.obolibrary.org/obo/DOID_850	lung disease		An artery disease that is located in the lungs.
http://purl.obolibrary.org/obo/DOID_0080524	thyroid gland adenocarcinoma	http://purl.obolibrary.org/obo/DOID_3963	thyroid gland carcinoma		A thyroid gland carcinoma that derives_from epithelial cells of glandular origin.
http://purl.obolibrary.org/obo/DOID_0080526	bronchiectasis 1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A bronchiectasis that has_material_basis_in mutation in the gene encoding the beta subunit of the epithelial sodium channel on chromosome 16p12.
http://purl.obolibrary.org/obo/DOID_0080527	bronchiectasis 2	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A bronchiectasis that has_material_basis_in mutation in the gene encoding the alpha subunit of the epithelial sodium channel.
http://purl.obolibrary.org/obo/DOID_0080528	bronchiectasis 3	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A bronchiectasis that has_material_basis_in mutation in the gene encoding the gamma subunit of the epithelial sodium channel.
http://purl.obolibrary.org/obo/DOID_0080530	granular corneal dystrophy 1	http://purl.obolibrary.org/obo/DOID_12318	granular corneal dystrophy		A granular corneal dystrophy that is characterized by recurrent erosions and gray crumb-like opacification located_in the cornea, proteinaceous rock candy-like deposits in the anterior stroma and subepithelium, and progressive vision loss later in life as deposits move into the central vision, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption of the corneal surface.
http://purl.obolibrary.org/obo/DOID_0111180	French Canadian Leigh disease	http://purl.obolibrary.org/obo/DOID_3762	cytochrome-c oxidase deficiency disease		A cytochrome-c oxidase deficiency disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21.
http://purl.obolibrary.org/obo/DOID_0111181	familial hemiplegic migraine 1	http://purl.obolibrary.org/obo/DOID_0060178	familial hemiplegic migraine		A familial hemiplegic migraine that is commonly associated with cerebellar degeneration and has_material_basis_in heterozygous mutation in CACNA1A on 19p13.
http://purl.obolibrary.org/obo/DOID_0111182	familial hemiplegic migraine 2	http://purl.obolibrary.org/obo/DOID_0060178	familial hemiplegic migraine		A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in ATP1A2 on 1q23.2.
http://purl.obolibrary.org/obo/DOID_0111183	familial hemiplegic migraine 3	http://purl.obolibrary.org/obo/DOID_0060178	familial hemiplegic migraine		A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in SCN1A on 2q24.3.
http://purl.obolibrary.org/obo/DOID_0111184	myopathy, lactic acidosis, and sideroblastic anemia 3	http://purl.obolibrary.org/obo/DOID_0080099	myopathy, lactic acidosis, and sideroblastic anemia		A myopathy, lactic acidosis, and sideroblastic anemia characterized by early infantile onset of transfusion-dependent sideroblastic anemia with failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay that has_material_basis_in heteroplasmic mutation in MTATP6 encoded by nucleotides 8527-9207 of the mitochondrial genome.
http://purl.obolibrary.org/obo/DOID_0111185	myopathy, lactic acidosis, and sideroblastic anemia 1	http://purl.obolibrary.org/obo/DOID_0080099	myopathy, lactic acidosis, and sideroblastic anemia		A myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in PUS1 on 12q24.
http://purl.obolibrary.org/obo/DOID_0111186	myopathy, lactic acidosis, and sideroblastic anemia 2	http://purl.obolibrary.org/obo/DOID_0080099	myopathy, lactic acidosis, and sideroblastic anemia		A myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has_material_basis_in homozyous or compound heterozygous mutation in YARS2 on 12p11.21.
http://purl.obolibrary.org/obo/DOID_0111187	distal myopathy with anterior tibial onset	http://purl.obolibrary.org/obo/DOID_11720	distal myopathy		A distal myopathy that is characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has_material_basis_in homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13.
http://purl.obolibrary.org/obo/DOID_0111188	myofibrillar myopathy 9	http://purl.obolibrary.org/obo/DOID_0080307	myofibrillar myopathy		A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31.
http://purl.obolibrary.org/obo/DOID_0111189	distal myopathy 3	http://purl.obolibrary.org/obo/DOID_11720	distal myopathy		A distal myopathy that is characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties and that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22 and that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0111190	distal myopathy 4	http://purl.obolibrary.org/obo/DOID_11720	distal myopathy		A distal myopathy that has_material_basis_in heterozygous mutation in FLNC on 7q32.
http://purl.obolibrary.org/obo/DOID_0111191	distal myopathy Tateyama type	http://purl.obolibrary.org/obo/DOID_11720	distal myopathy		A distal myopathy that has_material_basis_in heterozygous mutation in the caveolin-3 gene (CAV3) on chromosome 3p25.
http://purl.obolibrary.org/obo/DOID_0111192	facioscapulohumeral muscular dystrophy 1	http://purl.obolibrary.org/obo/DOID_11727	facioscapulohumeral muscular dystrophy		A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35.
http://purl.obolibrary.org/obo/DOID_0111193	facioscapulohumeral muscular dystrophy 2	http://purl.obolibrary.org/obo/DOID_11727	facioscapulohumeral muscular dystrophy		A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in the SMCHDI gene on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression.
http://purl.obolibrary.org/obo/DOID_0111194	autosomal dominant adult-onset proximal spinal muscular atrophy	http://purl.obolibrary.org/obo/DOID_12377	spinal muscular atrophy		A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13.
http://purl.obolibrary.org/obo/DOID_0111195	erythrokeratodermia variabilis et progressiva 1	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3.
http://purl.obolibrary.org/obo/DOID_0111196	X-linked distal spinal muscular atrophy 3	http://purl.obolibrary.org/obo/DOID_12377	spinal muscular atrophy		A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1.
http://purl.obolibrary.org/obo/DOID_0111197	autosomal recessive distal hereditary motor neuronopathy	http://purl.obolibrary.org/obo/DOID_12377	spinal muscular atrophy		A spinal muscular atrophy that has_material_basis_in autosomal recessive inheritance.
http://purl.obolibrary.org/obo/DOID_0111198	autosomal dominant distal hereditary motor neuronopathy	http://purl.obolibrary.org/obo/DOID_12377	spinal muscular atrophy		A spinal muscular atrophy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration, and that has_material_basis_in autosomal dominant inheritance.
http://purl.obolibrary.org/obo/DOID_0111199	autosomal dominant distal hereditary motor neuronopathy 7	http://purl.obolibrary.org/obo/DOID_0111198	autosomal dominant distal hereditary motor neuronopathy		An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3.
http://purl.obolibrary.org/obo/DOID_0111200	autosomal dominant distal hereditary motor neuronopathy 1	http://purl.obolibrary.org/obo/DOID_0111198	autosomal dominant distal hereditary motor neuronopathy		An autosomal dominant distal hereditary motor neuronopathy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration and that has_material_basis_in heterozygous 1.35-Mb DNA insertion on chromosome 7q34-q36.2. This structural variant (SV) results in the production of a novel gene-intergenic fusion transcript, UBE3C-IF.
http://purl.obolibrary.org/obo/DOID_0111202	autosomal dominant distal hereditary motor neuronopathy 14	http://purl.obolibrary.org/obo/DOID_0111198	autosomal dominant distal hereditary motor neuronopathy		An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1.
http://purl.obolibrary.org/obo/DOID_0111203	autosomal dominant distal hereditary motor neuronopathy 5	http://purl.obolibrary.org/obo/DOID_0111198	autosomal dominant distal hereditary motor neuronopathy		An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14.
http://purl.obolibrary.org/obo/DOID_0111205	autosomal dominant distal hereditary motor neuronopathy 12	http://purl.obolibrary.org/obo/DOID_0111198	autosomal dominant distal hereditary motor neuronopathy		An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the REEP1 gene on 2p11.2.
http://purl.obolibrary.org/obo/DOID_0111206	autosomal dominant distal hereditary motor neuronopathy 2	http://purl.obolibrary.org/obo/DOID_0111198	autosomal dominant distal hereditary motor neuronopathy		An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy with onset between 15 to 25 years of age and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24.
http://purl.obolibrary.org/obo/DOID_0111207	autosomal dominant distal hereditary motor neuronopathy 3	http://purl.obolibrary.org/obo/DOID_0111198	autosomal dominant distal hereditary motor neuronopathy		An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1) on chromosome 7q11.23.
http://purl.obolibrary.org/obo/DOID_0111209	autosomal dominant distal hereditary motor neuronopathy 4	http://purl.obolibrary.org/obo/DOID_0111198	autosomal dominant distal hereditary motor neuronopathy		A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the HSPB3 gene on 5q11.2.
http://purl.obolibrary.org/obo/DOID_0111210	autosomal dominant distal hereditary motor neuronopathy 6	http://purl.obolibrary.org/obo/DOID_0111198	autosomal dominant distal hereditary motor neuronopathy		A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the FBXO38 gene on 5q32.
http://purl.obolibrary.org/obo/DOID_0111211	autosomal recessive distal hereditary motor neuronopathy 3	http://purl.obolibrary.org/obo/DOID_0111197	autosomal recessive distal hereditary motor neuronopathy		An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3.
http://purl.obolibrary.org/obo/DOID_0111212	autosomal dominant distal hereditary motor neuronopathy 9	http://purl.obolibrary.org/obo/DOID_0111198	autosomal dominant distal hereditary motor neuronopathy		An autosomal domiant distal hereditary motor neuronopathy that is characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs that has_material_basis_in heterozygous mutation in the WARS gene on 14q32.2.
http://purl.obolibrary.org/obo/DOID_0111213	autosomal recessive distal hereditary motor neuronopathy 4	http://purl.obolibrary.org/obo/DOID_0111197	autosomal recessive distal hereditary motor neuronopathy		An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31.
http://purl.obolibrary.org/obo/DOID_0111214	autosomal recessive distal hereditary motor neuronopathy 5	http://purl.obolibrary.org/obo/DOID_0111197	autosomal recessive distal hereditary motor neuronopathy		An autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35.
http://purl.obolibrary.org/obo/DOID_0111215	autosomal dominant distal hereditary motor neuronopathy 8	http://purl.obolibrary.org/obo/DOID_0111198	autosomal dominant distal hereditary motor neuronopathy		An autosomal dominant distal hereditary motor neuronopathy that is characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable severity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11.
http://purl.obolibrary.org/obo/DOID_0111216	autosomal recessive centronuclear myopathy	http://purl.obolibrary.org/obo/DOID_14717	centronuclear myopathy		A centronuclear myopathy that has_material_basis_in autosomal recessive inheritance.
http://purl.obolibrary.org/obo/DOID_0111217	autosomal dominant centronuclear myopathy	http://purl.obolibrary.org/obo/DOID_14717	centronuclear myopathy		A centronuclear myopathy that has_material_basis_in autosomal dominant inheritance.
http://purl.obolibrary.org/obo/DOID_0111218	Friedreich ataxia 1	http://purl.obolibrary.org/obo/DOID_12705	Friedreich ataxia		A Friedreich ataxia that has_material_basis_in homozygous or compound heterozygous mutation in FXN on 9q21.1.
http://purl.obolibrary.org/obo/DOID_0111219	Friedreich ataxia 2	http://purl.obolibrary.org/obo/DOID_12705	Friedreich ataxia		A Friedreich ataxia that has_material_basis_in mutation in the 9p23-p11 chromosome region.
http://purl.obolibrary.org/obo/DOID_0111220	centronuclear myopathy 2	http://purl.obolibrary.org/obo/DOID_0111216	autosomal recessive centronuclear myopathy		An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3.
http://purl.obolibrary.org/obo/DOID_0111221	centronuclear myopathy 6 with fiber-type disproportion	http://purl.obolibrary.org/obo/DOID_0111216	autosomal recessive centronuclear myopathy		An autosomal recessive centronuclear myopathy that is characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZAK gene on 2q31.1.
http://purl.obolibrary.org/obo/DOID_0111222	centronuclear myopathy 5	http://purl.obolibrary.org/obo/DOID_0111216	autosomal recessive centronuclear myopathy		An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has_material_basis_in homozygous or compound heterozygous mutation in SPEG on 2q35.
http://purl.obolibrary.org/obo/DOID_0111223	centronuclear myopathy 1	http://purl.obolibrary.org/obo/DOID_0111217	autosomal dominant centronuclear myopathy		An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2.
http://purl.obolibrary.org/obo/DOID_0111224	centronuclear myopathy 4	http://purl.obolibrary.org/obo/DOID_0111217	autosomal dominant centronuclear myopathy		An autosomal dominant centronuclear myopathy that has_material_basis_in heterozygous mutation in CCDC78 on 16p13.3.
http://purl.obolibrary.org/obo/DOID_0111225	centronuclear myopathy X-linked	http://purl.obolibrary.org/obo/DOID_14717	centronuclear myopathy		A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28.
http://purl.obolibrary.org/obo/DOID_0111226	X-linked congenital myopathy with fiber-type disproportion	http://purl.obolibrary.org/obo/DOID_0080102	congenital myopathy 4A		A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has_material_basis_in mutation in the chromosome region Xq13.1-q22.1.
http://purl.obolibrary.org/obo/DOID_0111227	frontotemporal dementia and/or amyotrophic lateral sclerosis 7	http://purl.obolibrary.org/obo/DOID_332	amyotrophic lateral sclerosis		A frontotemporal dementia and/or amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in CHMP2B on 3p11.2.
http://purl.obolibrary.org/obo/DOID_0111228	Sveinsson chorioretinal atrophy	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous mutation in TEAD1 on 11p15.3.
http://purl.obolibrary.org/obo/DOID_0111229	congenital muscular dystrophy-dystroglycanopathy type A	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing.
http://purl.obolibrary.org/obo/DOID_0111230	congenital muscular dystrophy-dystroglycanopathy type A11	http://purl.obolibrary.org/obo/DOID_0111229	congenital muscular dystrophy-dystroglycanopathy type A		A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3.
http://purl.obolibrary.org/obo/DOID_0111231	congenital muscular dystrophy-dystroglycanopathy type A8	http://purl.obolibrary.org/obo/DOID_0111229	congenital muscular dystrophy-dystroglycanopathy type A		A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1.
http://purl.obolibrary.org/obo/DOID_0111232	congenital muscular dystrophy-dystroglycanopathy type A9	http://purl.obolibrary.org/obo/DOID_0111229	congenital muscular dystrophy-dystroglycanopathy type A		A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31.
http://purl.obolibrary.org/obo/DOID_0111233	congenital muscular dystrophy-dystroglycanopathy type A14	http://purl.obolibrary.org/obo/DOID_0111229	congenital muscular dystrophy-dystroglycanopathy type A		A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31.
http://purl.obolibrary.org/obo/DOID_0111234	congenital muscular dystrophy-dystroglycanopathy type A7	http://purl.obolibrary.org/obo/DOID_0111229	congenital muscular dystrophy-dystroglycanopathy type A		A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1.
http://purl.obolibrary.org/obo/DOID_0111235	congenital muscular dystrophy-dystroglycanopathy type A12	http://purl.obolibrary.org/obo/DOID_0111229	congenital muscular dystrophy-dystroglycanopathy type A		A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21.
http://purl.obolibrary.org/obo/DOID_0111236	congenital muscular dystrophy-dystroglycanopathy type A3	http://purl.obolibrary.org/obo/DOID_0111229	congenital muscular dystrophy-dystroglycanopathy type A		A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1.
http://purl.obolibrary.org/obo/DOID_0111237	congenital muscular dystrophy-dystroglycanopathy type A1	http://purl.obolibrary.org/obo/DOID_0111229	congenital muscular dystrophy-dystroglycanopathy type A		A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13.
http://purl.obolibrary.org/obo/DOID_0111238	congenital muscular dystrophy-dystroglycanopathy type A13	http://purl.obolibrary.org/obo/DOID_0111229	congenital muscular dystrophy-dystroglycanopathy type A		A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2.
http://purl.obolibrary.org/obo/DOID_0111239	congenital muscular dystrophy-dystroglycanopathy type A10	http://purl.obolibrary.org/obo/DOID_0111229	congenital muscular dystrophy-dystroglycanopathy type A		A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2.
http://purl.obolibrary.org/obo/DOID_0111240	congenital muscular dystrophy-dystroglycanopathy type A2	http://purl.obolibrary.org/obo/DOID_0111229	congenital muscular dystrophy-dystroglycanopathy type A		A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3.
http://purl.obolibrary.org/obo/DOID_0111241	congenital muscular dystrophy-dystroglycanopathy type A5	http://purl.obolibrary.org/obo/DOID_0111229	congenital muscular dystrophy-dystroglycanopathy type A		A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32.
http://purl.obolibrary.org/obo/DOID_0111242	congenital muscular dystrophy-dystroglycanopathy type A6	http://purl.obolibrary.org/obo/DOID_0111229	congenital muscular dystrophy-dystroglycanopathy type A		A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3.
http://purl.obolibrary.org/obo/DOID_0111243	acromicric dysplasia	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1.
http://purl.obolibrary.org/obo/DOID_0111244	palmoplantar keratoderma and congenital alopecia 1	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31.
http://purl.obolibrary.org/obo/DOID_0111245	palmoplantar keratoderma and congenital alopecia 2	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation.
http://purl.obolibrary.org/obo/DOID_0111246	amyotrophic lateral sclerosis-parkinsonism/dementia complex 1	http://purl.obolibrary.org/obo/DOID_1289	neurodegenerative disease		A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. Susceptibility to this disease is influenced by heterozygous mutation in TRPM7 on 15q21.2.
http://purl.obolibrary.org/obo/DOID_0111247	hypertension and brachydactyly syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and increased risk of stroke when untreated that has_material_basis_in heterozygous mutation in PDE3A on 12p12.2.
http://purl.obolibrary.org/obo/DOID_0111248	cerebrocostomandibular syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13.
http://purl.obolibrary.org/obo/DOID_0111249	uveal coloboma-cleft lip and palate-intellectual disability	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has_material_basis_in heterozygous mutation in YAP1 on 11q22.1.
http://purl.obolibrary.org/obo/DOID_0111250	Parkinson's disease 3	http://purl.obolibrary.org/obo/DOID_0060892	late onset Parkinson's disease		A late onset Parkinson's disease characterized by mean age of onset of 59 years and that has_material_basis_in mutation in a locus in the 2p13 chromosome region.
http://purl.obolibrary.org/obo/DOID_0111251	Parkinson's disease 21	http://purl.obolibrary.org/obo/DOID_0060892	late onset Parkinson's disease		A late onset Parkinson's disease characterized by autosomal dominant inheritance and mean age of onset at 67 years.
http://purl.obolibrary.org/obo/DOID_0111252	vestibular schwannomatosis	http://purl.obolibrary.org/obo/DOID_3204	schwannomatosis		A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2.
http://purl.obolibrary.org/obo/DOID_0111253	neurofibromatosis 1	http://purl.obolibrary.org/obo/DOID_8712	neurofibromatosis		A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone.
http://purl.obolibrary.org/obo/DOID_0111254	glutaric acidemia I	http://purl.obolibrary.org/obo/DOID_0060159	organic acidemia		An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in the GCDH gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0111255	McKusick-Kaufman syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2.
http://purl.obolibrary.org/obo/DOID_0111256	hyperferritinemia-cataract syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33.
http://purl.obolibrary.org/obo/DOID_0111257	gamma-glutamyl transpeptidase deficiency	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder characterized by accumulation of glutathione in the plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in GGT1 on 22q11.23.
http://purl.obolibrary.org/obo/DOID_0111258	pentosuria	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3.
http://purl.obolibrary.org/obo/DOID_0111259	postaxial acrofacial dysostosis	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has_material_basis_in homozygous or compound heterozygous mutation in DHODH on 16q22.2.
http://purl.obolibrary.org/obo/DOID_0111260	phosphoribosylpyrophosphate synthetase superactivity	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset.
http://purl.obolibrary.org/obo/DOID_0111261	fumarase deficiency	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43.
http://purl.obolibrary.org/obo/DOID_0111262	infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in MED17 on 11q21.
http://purl.obolibrary.org/obo/DOID_0111263	combined malonic and methylmalonic acidemia	http://purl.obolibrary.org/obo/DOID_0060159	organic acidemia		An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3.
http://purl.obolibrary.org/obo/DOID_0111264	Ruijs-Aalfs syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that has_material_basis_in homozygous or compound heterozygous mutation in SPRTN on 1q42.2.
http://purl.obolibrary.org/obo/DOID_0070333	breast implant-associated anaplastic large cell lymphoma	http://purl.obolibrary.org/obo/DOID_0050749	peripheral T-cell lymphoma		A peripheral T-cell lymphoma characterized by development around textured-surface breast implants confined to the capsule.
http://purl.obolibrary.org/obo/DOID_0080589	Klippel-Feil syndrome 1	http://purl.obolibrary.org/obo/DOID_10426	Klippel-Feil syndrome		A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22.
http://purl.obolibrary.org/obo/DOID_0080590	Klippel-Feil syndrome 2	http://purl.obolibrary.org/obo/DOID_10426	Klippel-Feil syndrome		A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MEOX1 gene on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0080591	Klippel-Feil syndrome 3	http://purl.obolibrary.org/obo/DOID_10426	Klippel-Feil syndrome		A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF3 gene on chromosome 12p13.
http://purl.obolibrary.org/obo/DOID_0080592	Klippel-Feil syndrome 4	http://purl.obolibrary.org/obo/DOID_10426	Klippel-Feil syndrome		A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MYO18B gene on chromosome 22q12.
http://purl.obolibrary.org/obo/DOID_0080593	orofacial cleft 6	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An orofacial cleft that has_material_basis_in variation in an enhancer of the IRF6 gene on chromosome 1q32.
http://purl.obolibrary.org/obo/DOID_0080594	hyper IgE recurrent infection syndrome 2	http://purl.obolibrary.org/obo/DOID_0080545	hyper IgE syndrome		A hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24.
http://purl.obolibrary.org/obo/DOID_0080595	autosomal recessive hyper-IgE syndrome 3 with recurrent infections	http://purl.obolibrary.org/obo/DOID_0080545	hyper IgE syndrome		A hyper IgE syndrome that has_material_basis_in homozygous mutation in the ZNF341 gene on chromosome 20q11.
http://purl.obolibrary.org/obo/DOID_0080596	hyper IgE recurrent infection syndrome 4	http://purl.obolibrary.org/obo/DOID_0080545	hyper IgE syndrome		A hyper IgE syndrome that has_material_basis_in homozygous mutation in the IL6ST gene on chromosome 5q11.
http://purl.obolibrary.org/obo/DOID_0111505	palmoplantar keratoderma-deafness syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11.
http://purl.obolibrary.org/obo/DOID_0111506	palmoplantar keratoderma-esophageal carcinoma syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in the RHBDF2 gene on chromosome 17q25.1.
http://purl.obolibrary.org/obo/DOID_0111507	Lenz-Majewski hyperostotic dwarfism	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the PTDSS1 gene on chromosome 8q22.1.
http://purl.obolibrary.org/obo/DOID_0111508	Torrance type platyspondylic dysplasia	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.
http://purl.obolibrary.org/obo/DOID_0111509	lymphedema-distichiasis syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in the FOXC2 gene on chromosome 16q24.1.
http://purl.obolibrary.org/obo/DOID_0111510	Marshall syndrome	http://purl.obolibrary.org/obo/DOID_2121	ectodermal dysplasia		An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in the COL11A1 gene on chromosome 1p21.1. Mutations, typically null, in the COL11A1 gene may also cause Stickler syndrome.
http://purl.obolibrary.org/obo/DOID_0111511	melanoma and neural system tumor syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in the CDKN2A gene on chromosome 9p21.3.
http://purl.obolibrary.org/obo/DOID_0111512	metachondromatosis	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.13.
http://purl.obolibrary.org/obo/DOID_0111513	metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of the RUNX2 gene on chromosome 6p21.1.
http://purl.obolibrary.org/obo/DOID_0111514	metatropic dysplasia	http://purl.obolibrary.org/obo/DOID_0080027	spondyloepimetaphyseal dysplasia		A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.
http://purl.obolibrary.org/obo/DOID_0111515	autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2	http://purl.obolibrary.org/obo/DOID_12558	chronic progressive external ophthalmoplegia		A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the RNASEH1 gene on chromosome 2p25.3.
http://purl.obolibrary.org/obo/DOID_0111516	autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4	http://purl.obolibrary.org/obo/DOID_12558	chronic progressive external ophthalmoplegia		A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.1.
http://purl.obolibrary.org/obo/DOID_0111517	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2	http://purl.obolibrary.org/obo/DOID_12558	chronic progressive external ophthalmoplegia		A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1.
http://purl.obolibrary.org/obo/DOID_0111518	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5	http://purl.obolibrary.org/obo/DOID_12558	chronic progressive external ophthalmoplegia		A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the RRM2B gene on chromosome 8q22.3.
http://purl.obolibrary.org/obo/DOID_0111519	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6	http://purl.obolibrary.org/obo/DOID_12558	chronic progressive external ophthalmoplegia		A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in the DNA2 gene on chromosome 10q21.3.
http://purl.obolibrary.org/obo/DOID_0111520	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	http://purl.obolibrary.org/obo/DOID_12558	chronic progressive external ophthalmoplegia		A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the TWNK gene on chromosome 10q24.31.
http://purl.obolibrary.org/obo/DOID_0111521	autosomal dominant progressive external ophthalmoplegia 1	http://purl.obolibrary.org/obo/DOID_12558	chronic progressive external ophthalmoplegia		A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG gene on chromosome 15q26.1.
http://purl.obolibrary.org/obo/DOID_0111522	autosomal recessive progressive external ophthalmoplegia 1	http://purl.obolibrary.org/obo/DOID_12558	chronic progressive external ophthalmoplegia		A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the POLG gene on chromosome 15q26.1.
http://purl.obolibrary.org/obo/DOID_0111523	autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3	http://purl.obolibrary.org/obo/DOID_12558	chronic progressive external ophthalmoplegia		A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21.
http://purl.obolibrary.org/obo/DOID_0111524	autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5	http://purl.obolibrary.org/obo/DOID_12558	chronic progressive external ophthalmoplegia		A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the TOP3A gene on chromosome 17p11.2.
http://purl.obolibrary.org/obo/DOID_0111525	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	http://purl.obolibrary.org/obo/DOID_12558	chronic progressive external ophthalmoplegia		A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG2 gene on chromosome 17q23.3.
http://purl.obolibrary.org/obo/DOID_0111526	Mullerian aplasia and hyperandrogenism	http://purl.obolibrary.org/obo/DOID_1923	disorder of sexual development		A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in the WNT4 gene on chromosome 1p36.12.
http://purl.obolibrary.org/obo/DOID_0111527	spinal muscular atrophy with progressive myoclonic epilepsy	http://purl.obolibrary.org/obo/DOID_12377	spinal muscular atrophy		A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22.
http://purl.obolibrary.org/obo/DOID_0111528	Naegeli-Franceschetti-Jadassohn syndrome	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2.
http://purl.obolibrary.org/obo/DOID_0111529	familial multiple nevi flammei	http://purl.obolibrary.org/obo/DOID_1271	capillary disease		A capillary disease characterized by dark red to purple, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, do not spontaneously regress, and have normal rates endothelial cell turnover.
http://purl.obolibrary.org/obo/DOID_0111530	linear nevus sebaceous syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively.
http://purl.obolibrary.org/obo/DOID_0111531	bilateral optic nerve hypoplasia	http://purl.obolibrary.org/obo/DOID_1891	optic nerve disease		An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.
http://purl.obolibrary.org/obo/DOID_0111532	osteoglophonic dysplasia	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23.
http://purl.obolibrary.org/obo/DOID_0111533	gnathodiaphyseal dysplasia	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in the ANO5 gene on chromosome 11p14.3.
http://purl.obolibrary.org/obo/DOID_0111534	multicentric carpotarsal osteolysis syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12.
http://purl.obolibrary.org/obo/DOID_0070334	vegetable allergy	http://purl.obolibrary.org/obo/DOID_3044	food allergy		A food allergy triggered by a vegetable food product.
http://purl.obolibrary.org/obo/DOID_0070335	celery allergy	http://purl.obolibrary.org/obo/DOID_0070334	vegetable allergy		A vegetable allergy triggered by celery (Apium graveolens).
http://purl.obolibrary.org/obo/DOID_0070337	epithelial recurrent erosion dystrophy	http://purl.obolibrary.org/obo/DOID_0060440	epithelial and subepithelial dystrophy		An epithelial and subepithelial dystrophy that is characterized by frequent painful recurrent corneal erosions, small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity.
http://purl.obolibrary.org/obo/DOID_0080618	lymph node carcinoma	http://purl.obolibrary.org/obo/DOID_305	carcinoma		A lymph node cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
http://purl.obolibrary.org/obo/DOID_0080620	familial glucocorticoid deficiency	http://purl.obolibrary.org/obo/DOID_9553	adrenal gland disease		An adrenal cortex disease that is characterized by insufficient production of glucocorticoids.
http://purl.obolibrary.org/obo/DOID_0080621	glucocorticoid deficiency 1	http://purl.obolibrary.org/obo/DOID_0080620	familial glucocorticoid deficiency		A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding melanocortin-2 receptor, which is also referred to as adrenocorticotropin receptor, on chromosome 18p11.
http://purl.obolibrary.org/obo/DOID_0080622	peroxisome biogenesis disorder 2B	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.3.
http://purl.obolibrary.org/obo/DOID_0080623	Heimler syndrome 1	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21.
http://purl.obolibrary.org/obo/DOID_0080624	Heimler syndrome 2	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in compound heterozygous mutation in the PEX6 gene on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0080625	severe congenital neutropenia 1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A severe congenital neutropenia that has_material_basis_in heterozygous mutation in the neutrophil elastase gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0080626	corticosterone methyloxidase deficiency 1	http://purl.obolibrary.org/obo/DOID_9553	adrenal gland disease		An adrenal gland disease that is characterized by excessive amounts of sodium released in the urine, along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life.
http://purl.obolibrary.org/obo/DOID_0080627	alopecia-mental retardation syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by loss of hair on the scalp, eyebrows, eyelashes, axillas and pubic hair, in addition to mild to severe intellectual disability.
http://purl.obolibrary.org/obo/DOID_0080628	alopecia-mental retardation syndrome 1	http://purl.obolibrary.org/obo/DOID_0080627	alopecia-mental retardation syndrome		An alopecia-mental retardation syndrome that has_material_basis_in homozygous mutation in the AHSG gene on chromosome 3q27.
http://purl.obolibrary.org/obo/DOID_0080629	alopecia-mental retardation syndrome 2	http://purl.obolibrary.org/obo/DOID_0080627	alopecia-mental retardation syndrome		An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 3q26.2-q26.31.
http://purl.obolibrary.org/obo/DOID_0080631	Elsahy-Waters syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation.
http://purl.obolibrary.org/obo/DOID_0080632	Fazio-Londe disease	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A progressive bulbar palsy that is characterized by motor, sensory and cranial neuronopathy and that has_material_basis_in homozygous mutation in the C20ORF54 gene on chromosome 20p13.
http://purl.obolibrary.org/obo/DOID_0080633	developmental cardiac valvular defect	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		A physical disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PLD1 gene on chromosome 3q26.
http://purl.obolibrary.org/obo/DOID_0080634	nanophthalmos	http://purl.obolibrary.org/obo/DOID_10629	microphthalmia		A microphthalmia that is characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.
http://purl.obolibrary.org/obo/DOID_0080635	optic disc anomalies with retinal and/or macular dystrophy	http://purl.obolibrary.org/obo/DOID_10629	microphthalmia		A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23.
http://purl.obolibrary.org/obo/DOID_0080636	syndromic microphthalmia	http://purl.obolibrary.org/obo/DOID_10629	microphthalmia		A microphthalmia that occurs as part of a syndrome that affects other organs and tissues in the body.
http://purl.obolibrary.org/obo/DOID_0080637	isolated microphthalmia	http://purl.obolibrary.org/obo/DOID_10629	microphthalmia		A microphthalmia that occurs by itself.
http://purl.obolibrary.org/obo/DOID_0080641	tongue carcinoma	http://purl.obolibrary.org/obo/DOID_8649	tongue cancer		A tongue cancer that derives_from epithelial cells that cover the surface of the tongue.
http://purl.obolibrary.org/obo/DOID_0111697	cleft palate, cardiac defects, and intellectual disability	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by a combination of congenital heart defects, variable cleft lip/palate, short stature, microcephaly, and digital anomalies that has_material_basis_in heterozygous mutation in the MEIS2 gene on chromosome 15q14.
http://purl.obolibrary.org/obo/DOID_0111698	proprotein convertase 1/3 deficiency	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in the PCSK1 gene on chromosome 5q15.
http://purl.obolibrary.org/obo/DOID_0111699	Van den Ende-Gupta syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by severe contractual arachnodactyly, distinctive facial features, blepharophimosis, and absence of neurological involvement that has_material_basis_in homozygous or compound heterozygous mutation in the SCARF2 gene on chromosome 22q11.21.
http://purl.obolibrary.org/obo/DOID_0111700	ankyrin-B-related cardiac arrhythmia	http://purl.obolibrary.org/obo/DOID_114	heart disease		A heart disease characterized by a broad spectrum of cardiac arrhythmias including; bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26.
http://purl.obolibrary.org/obo/DOID_0111701	long QT syndrome 4	http://purl.obolibrary.org/obo/DOID_2843	long QT syndrome		A long QT syndrome that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26.
http://purl.obolibrary.org/obo/DOID_0111702	loose anagen hair syndrome	http://purl.obolibrary.org/obo/DOID_987	alopecia		An alopecia characterized by anagen phase (actively growing) hair that is easily pulled from the scalp typically presenting in childhood in fair haired individuals and improving with age.
http://purl.obolibrary.org/obo/DOID_0111703	familial hypertryptophanemia	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has_material_basis_in homozygous or compound heterozygous mutation in the TDO2 gene on chromosome 4q32.1.
http://purl.obolibrary.org/obo/DOID_0111704	chromosome 2q37 deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2.
http://purl.obolibrary.org/obo/DOID_0111705	oculoectodermal syndrome	http://purl.obolibrary.org/obo/DOID_2121	ectodermal dysplasia		An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has_material_basis_in somatic mosaic mutation in the KRAS gene on chromosome 12p12.1.
http://purl.obolibrary.org/obo/DOID_0111706	oblique facial clefting 1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has_material_basis_in heterozygous mutation in the SPECC1L gene on chromosome 22q11.23.
http://purl.obolibrary.org/obo/DOID_0111707	Bothnian type palmoplantar keratoderma	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in the AQP5 gene on chromosome 12q13.12.
http://purl.obolibrary.org/obo/DOID_0111708	focal nonepidermolytic palmoplantar keratoderma	http://purl.obolibrary.org/obo/DOID_0050428	nonepidermolytic palmoplantar keratoderma		A nonepidermolytic palmoplantar keratoderma characterized by localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction.
http://purl.obolibrary.org/obo/DOID_0111709	focal nonepidermolytic palmoplantar keratoderma 1	http://purl.obolibrary.org/obo/DOID_0111708	focal nonepidermolytic palmoplantar keratoderma		A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT16 gene on chromosome 17q21.2.
http://purl.obolibrary.org/obo/DOID_0111710	focal or diffuse nonepidermolytic palmoplantar keratoderma	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has_material_basis_in heterozygous mutation in the KRT6C gene on chromosome 12q13.13.
http://purl.obolibrary.org/obo/DOID_0111711	focal nonepidermolytic palmoplantar keratoderma 2	http://purl.obolibrary.org/obo/DOID_0111708	focal nonepidermolytic palmoplantar keratoderma		A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2.
http://purl.obolibrary.org/obo/DOID_0111712	Kagami-Ogata syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by polyhydramnios, fetal macrosomia, abdominal wall defects, skeletal abnormalities, feeding difficulties and impaired swallowing, dysmorphic features, developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 14q32.
http://purl.obolibrary.org/obo/DOID_0111713	Temple syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has_material_basis_in heterozygous mutation in an impriniting region on chromosome 14q32.
http://purl.obolibrary.org/obo/DOID_0111714	Mulchandani-Bhoj-Conlin syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 20q11-q13.
http://purl.obolibrary.org/obo/DOID_0111715	Schaaf-Yang syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2.
http://purl.obolibrary.org/obo/DOID_0111824	Aarskog syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature.
http://purl.obolibrary.org/obo/DOID_0080831	subjective cognitive decline	http://purl.obolibrary.org/obo/DOID_1561	cognitive disorder		A cognitive disorder that is characterized by the presence of significant and persistent cognitive complaints.
http://purl.obolibrary.org/obo/DOID_0080832	mild cognitive impairment	http://purl.obolibrary.org/obo/DOID_1561	cognitive disorder		A cognitive disorder that is characterized by objective impairment in cognition with minimal impairment of their capacity to undertake the instrumental activities of daily living.
http://purl.obolibrary.org/obo/DOID_0080833	laryngomalacia	http://purl.obolibrary.org/obo/DOID_786	laryngeal disease		A laryngeal disease that is characterized by inward collapse of flaccid supraglottic structures during inspiration. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying.
http://purl.obolibrary.org/obo/DOID_0080834	acquired laryngomalacia	http://purl.obolibrary.org/obo/DOID_786	laryngeal disease		A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures.
http://purl.obolibrary.org/obo/DOID_0080835	TORCH syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by congenital infection with toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and other organisms.
http://purl.obolibrary.org/obo/DOID_0112153	hypomyelinating leukodystrophy 20	http://purl.obolibrary.org/obo/DOID_0060786	hypomyelinating leukodystrophy		A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2.
http://purl.obolibrary.org/obo/DOID_0112154	inflammatory bowel disease 30	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that has_material_basis_in heterozygous mutation in the CARD8 gene on chromosome 19q13.33.
http://purl.obolibrary.org/obo/DOID_0112155	inflammatory bowel disease 29	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An inflammatory bowel disease that has_material_basis_in heterozygous mutation in the INAVA gene on chromosome 1q32.1.
http://purl.obolibrary.org/obo/DOID_0112156	X-linked dyserythropoietic anemia	http://purl.obolibrary.org/obo/DOID_2355	anemia		An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has_material_basis_in hemizygous splice-site mutation in the GATA1 gene on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen.
http://purl.obolibrary.org/obo/DOID_0112157	X-linked atrophic macular degeneration	http://purl.obolibrary.org/obo/DOID_4448	macular degeneration		A macular degeneration characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment that has_material_basis_in hemizygous mutation in RPGR on chromosome Xp11.4.
http://purl.obolibrary.org/obo/DOID_0112158	De Sanctis-Cacchione syndrome	http://purl.obolibrary.org/obo/DOID_0050427	xeroderma pigmentosum		A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration.
http://purl.obolibrary.org/obo/DOID_0112159	autosomal dominant nonsyndromic deafness 78	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the SLC12A2 gene on chromosome 5q23.3.
http://purl.obolibrary.org/obo/DOID_0112160	autosomal dominant nonsyndromic deafness 79	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SCD5 gene on chromosome 4q21.22.
http://purl.obolibrary.org/obo/DOID_0112161	Noonan syndrome 13	http://purl.obolibrary.org/obo/DOID_3490	Noonan syndrome		A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in the MAPK1 gene on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase.
http://purl.obolibrary.org/obo/DOID_0112162	autosomal recessive nonsyndromic deafness 116	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN9 gene on chromosome 16p13.3.
http://purl.obolibrary.org/obo/DOID_0112163	spermatogenic failure 45	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by male infertility due to severe teratozoospermia with multiple morphologic abnormalities of the flagella and disruption of the axonemal complex and mitochondrial sheath that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH2 gene on chromosome 17p13.1.
http://purl.obolibrary.org/obo/DOID_0112164	spermatogenic failure 46	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with multiple morphologic abnormalities of the flagella and disorganization of the axonemal and periaxonemal structures that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH8 gene on chromosome 6p21.2.
http://purl.obolibrary.org/obo/DOID_0112165	autosomal dominant nonsyndromic deafness 74	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PDE1C gene on chromosome 7p14.3.
http://purl.obolibrary.org/obo/DOID_0112166	autosomal dominant nonsyndromic deafness 75	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the TRRAP gene on chromosome 7q22.1.
http://purl.obolibrary.org/obo/DOID_0112167	autosomal dominant nonsyndromic deafness 76	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that has_material_basis_in heterozygous mutation in the PLS1 gene on chromosome 3q23.
http://purl.obolibrary.org/obo/DOID_0112168	autosomal dominant nonsyndromic deafness 77	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ABCC1 gene on chromosome 16p13.11.
http://purl.obolibrary.org/obo/DOID_0112169	Noonan syndrome 11	http://purl.obolibrary.org/obo/DOID_3490	Noonan syndrome		A Noonan syndrome characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and cardiac hypertrophy that has_material_basis_in heterozygous mutation in the MRAS gene on chromosome 3q22.3.
http://purl.obolibrary.org/obo/DOID_0112170	Noonan syndrome 12	http://purl.obolibrary.org/obo/DOID_3490	Noonan syndrome		A Noonan syndrome characterized by macrocephaly, facial anomalies including hypertelorism, downslanting palpebral fissures, and low-set ears, and other Noonan syndrome features that has_material_basis_in heterozygous mutation in the RRAS2 gene on chromosome 11p15.2.
http://purl.obolibrary.org/obo/DOID_0112171	wrinkly skin syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by sagging or wrinkly skin, reduced skin elasticity, delayed closure of the fontanel, typically mild developmental delay, and variable other skeletal, neurological and facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ATP6V0A2 gene on chromosome 12q24.31.
http://purl.obolibrary.org/obo/DOID_0112172	hereditary combined deficiency of vitamin K-dependent clotting factors	http://purl.obolibrary.org/obo/DOID_1247	blood coagulation disease		A blood coagulation disease characterized by reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors and the anticoagulant factors protein C and protein S resulting in a bleeding tendency that is usually reversed by oral administration of vitamin K that has_material_basis_in a heritable mutation.
http://purl.obolibrary.org/obo/DOID_0112173	combined deficiency of vitamin K-dependent clotting factors 1	http://purl.obolibrary.org/obo/DOID_0112172	hereditary combined deficiency of vitamin K-dependent clotting factors		A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the GGCX gene on chromosome 2p11.2.
http://purl.obolibrary.org/obo/DOID_0112174	combined deficiency of vitamin K-dependent clotting factors 2	http://purl.obolibrary.org/obo/DOID_0112172	hereditary combined deficiency of vitamin K-dependent clotting factors		A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the VKORC1 gene on chromosome 16p11.2.
http://purl.obolibrary.org/obo/DOID_0080836	growth hormone insensitivity syndrome with immune dysregulation 1	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in homozygous mutation in the STAT5B gene on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0080837	growth hormone insensitivity syndrome with immune dysregulation 2	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in heterozygous mutation in the STAT5B gene on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0080839	X-linked warfarin sensitivity	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		An inherited metabolic disorder that is characterized by bleeding complications when given warfarin for anticoagulation and that has_material_basis_in variation in the F9 gene on chromosome Xq27.
http://purl.obolibrary.org/obo/DOID_0080840	optic atrophy 12	http://purl.obolibrary.org/obo/DOID_5723	optic atrophy		An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that has_material_basis_in heterozygous mutation in the AFG3L2 gene on chromosome 18p11.
http://purl.obolibrary.org/obo/DOID_0080842	intracranial meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		A meningioma that arises within the cranial cavity.
http://purl.obolibrary.org/obo/DOID_0080843	supratentorial meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		A meningioma that affects the supratentorial brain.
http://purl.obolibrary.org/obo/DOID_0080844	omodysplasia 1	http://purl.obolibrary.org/obo/DOID_0060288	omodysplasia		An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32.
http://purl.obolibrary.org/obo/DOID_0080845	omodysplasia 2	http://purl.obolibrary.org/obo/DOID_0060288	omodysplasia		An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the FZD2 gene on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0080846	latent autoimmune diabetes in adults	http://purl.obolibrary.org/obo/DOID_9744	type 1 diabetes mellitus		A type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus.
http://purl.obolibrary.org/obo/DOID_0080848	long COVID	http://purl.obolibrary.org/obo/DOID_0080599	Coronavirus infectious disease		A Coronavirus infectious disease that is characterized by long-term persistent and fluctuating symptoms, in individuals with COVID-19, persisting beyond three to four weeks, including the loss of the ability to smell and taste, breathlessness, fatigue, difficulty in breathing, difficulty concentrating, memory loss, confusion, headache, heart palpitations, chest pain, pain with deep breaths, dizziness, and tachycardia.
http://purl.obolibrary.org/obo/DOID_0112175	spermatogenic failure 47	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by asthenoteratospermia,reduced sperm concentrations, and immotile spermatozoa with short or absent flagella as well as centriolar abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DZIP1 gene on chromosome 13q32.1.
http://purl.obolibrary.org/obo/DOID_0112176	spermatogenic failure 48	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure that is characterized by impaired spermatogenesis, primarily occurring at meiosis that has_material_basis_in homozygous or compound heterozygous mutation in M1AP on chromosome 2p13.1.
http://purl.obolibrary.org/obo/DOID_0112177	Mayer-Rokitansky-Kuster-Hauser syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by aplasia of the uterus and upper part of the vagina in patients with normal secondary sex characteristics and a 46,XX karyotype.
http://purl.obolibrary.org/obo/DOID_0112178	Mayer-Rokitansky-Kuster-Hauser syndrome type 1	http://purl.obolibrary.org/obo/DOID_0112177	Mayer-Rokitansky-Kuster-Hauser syndrome		A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype.
http://purl.obolibrary.org/obo/DOID_0112179	Mayer-Rokitansky-Kuster-Hauser syndrome type 2	http://purl.obolibrary.org/obo/DOID_0112177	Mayer-Rokitansky-Kuster-Hauser syndrome		A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by congenital aplasia of the uterus and upper two thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects.
http://purl.obolibrary.org/obo/DOID_0112180	urocanase deficiency	http://purl.obolibrary.org/obo/DOID_9265	histidine metabolism disease		A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in the UROC1 gene on chromosome 3q21.3.
http://purl.obolibrary.org/obo/DOID_0112181	Schinzel type phocomelia	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by severe malformations of upper and lower limbs,severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in the WNT7A gene on chromosome 3p25.1.
http://purl.obolibrary.org/obo/DOID_0112182	mismatch repair cancer syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively.
http://purl.obolibrary.org/obo/DOID_0112183	familial thyroid dyshormonogenesis	http://purl.obolibrary.org/obo/DOID_0050328	congenital hypothyroidism		A congenital hypothyroidism characterized by thyroid hormone deficiency that is present from birth and results from defects in thyroid hormone synthesis.
http://purl.obolibrary.org/obo/DOID_0112184	thyroid dyshormonogenesis 5	http://purl.obolibrary.org/obo/DOID_0112183	familial thyroid dyshormonogenesis		A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOXA2 on chromosome 15q21.1.
http://purl.obolibrary.org/obo/DOID_0112185	thyroid dyshormonogenesis 1	http://purl.obolibrary.org/obo/DOID_0112183	familial thyroid dyshormonogenesis		A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11.
http://purl.obolibrary.org/obo/DOID_0112186	thyroid dyshormonogenesis 2A	http://purl.obolibrary.org/obo/DOID_0112183	familial thyroid dyshormonogenesis		A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TPO on chromosome 2p25.3.
http://purl.obolibrary.org/obo/DOID_0112187	thyroid dyshormonogenesis 3	http://purl.obolibrary.org/obo/DOID_0112183	familial thyroid dyshormonogenesis		A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TG on chromosome 8q24.22.
http://purl.obolibrary.org/obo/DOID_0112188	thyroid dyshormonogenesis 4	http://purl.obolibrary.org/obo/DOID_0112183	familial thyroid dyshormonogenesis		A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in IYD on chromosome 6q25.1.
http://purl.obolibrary.org/obo/DOID_0112189	thyroid dyshormonogenesis 6	http://purl.obolibrary.org/obo/DOID_0112183	familial thyroid dyshormonogenesis		A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOX2 on chromosome 15q21.1.
http://purl.obolibrary.org/obo/DOID_0112190	distal arthrogryposis type 1C	http://purl.obolibrary.org/obo/DOID_0111596	distal arthrogryposis type 1		A distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that has_material_basis_in heterozygous or homozygous mutation in the MYLPF gene on chromosome 16p11.2.
http://purl.obolibrary.org/obo/DOID_0112191	tetraamelia syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by rudimentary or absent appendages and anomalies involving the cranium and face, urogenital system, anorectum, heart, lungs, skeleton, and/or central nervous system.
http://purl.obolibrary.org/obo/DOID_0112192	tetraamelia syndrome 1	http://purl.obolibrary.org/obo/DOID_0112191	tetraamelia syndrome		A tetraamelia syndrome characterized by complete limb agenesis without defects of scapulae or clavicles that has_material_basis_in homozygous or compound heterozygous mutation in WNT3 on chromosome 17q21.31-q21.32.
http://purl.obolibrary.org/obo/DOID_0112193	tetraamelia syndrome 2	http://purl.obolibrary.org/obo/DOID_0112191	tetraamelia syndrome		A tetraamelia syndrome characterized by rudimentary or absent appendages, bilateral agenesis of the lungs, pulmonary vascular abnormalities, and dysmorphic features that has_material_basis_in homozygous or compound heterozygous mutation in RSPO2 on chromosome 8q23.1.
http://purl.obolibrary.org/obo/DOID_0112194	Filippi syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in the CKAP2L gene on chromosome 2q14.1.
http://purl.obolibrary.org/obo/DOID_0112195	spondyloperipheral dysplasia	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.
http://purl.obolibrary.org/obo/DOID_0112196	spondylometaepiphyseal dysplasia, short limb-hand type	http://purl.obolibrary.org/obo/DOID_0080027	spondyloepimetaphyseal dysplasia		A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in the DDR2 gene on chromosome 1q23.3.
http://purl.obolibrary.org/obo/DOID_0112197	spondyloepimetaphyseal dysplasia with joint laxity	http://purl.obolibrary.org/obo/DOID_0080027	spondyloepimetaphyseal dysplasia		A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility.
http://purl.obolibrary.org/obo/DOID_0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1	http://purl.obolibrary.org/obo/DOID_0112197	spondyloepimetaphyseal dysplasia with joint laxity		A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basis_in homozygous or compound heterozygous mutation in the B3GALT6 gene on chromosome 1p36.33.
http://purl.obolibrary.org/obo/DOID_0112199	spondyloepimetaphyseal dysplasia with joint laxity type 2	http://purl.obolibrary.org/obo/DOID_0112197	spondyloepimetaphyseal dysplasia with joint laxity		A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has_material_basis_in heterozygous mutation in KIF22 on chromosome 16p11.2.
http://purl.obolibrary.org/obo/DOID_0112200	spondyloepimetaphyseal dysplasia with joint laxity type 3	http://purl.obolibrary.org/obo/DOID_0112197	spondyloepimetaphyseal dysplasia with joint laxity		A spondyloepimetaphyseal dysplasia with joint laxity characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones that has_material_basis_in homozygous or compound heterozygous mutation in the EXOC6B gene on chromosome 2p13.2.
http://purl.obolibrary.org/obo/DOID_0080875	IDH-mutant anaplastic astrocytoma	http://purl.obolibrary.org/obo/DOID_3078	anaplastic astrocytoma		An anaplastic astrocytoma carrying IDH mutations.
http://purl.obolibrary.org/obo/DOID_0080876	IDH-wildtype anaplastic astrocytoma	http://purl.obolibrary.org/obo/DOID_3078	anaplastic astrocytoma		An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes.
http://purl.obolibrary.org/obo/DOID_0080877	astrocytoma, IDH-mutant, grade 4	http://purl.obolibrary.org/obo/DOID_0080875	IDH-mutant anaplastic astrocytoma		An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas.
http://purl.obolibrary.org/obo/DOID_0080878	IDH-wildtype glioblastoma	http://purl.obolibrary.org/obo/DOID_3068	glioblastoma		A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes.
http://purl.obolibrary.org/obo/DOID_0080879	histone mutated tumor	http://purl.obolibrary.org/obo/DOID_3070	high grade glioma		A high grade glioma that has_material_basis_in mutations in the genes encoding histones.
http://purl.obolibrary.org/obo/DOID_0080880	diffuse glioma, H3 G34 mutant	http://purl.obolibrary.org/obo/DOID_0080879	histone mutated tumor		A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein.
http://purl.obolibrary.org/obo/DOID_0080881	pleomorphic xanthoastrocytoma BRAF mutant	http://purl.obolibrary.org/obo/DOID_0080854	anaplastic pleomorphic xanthoastrocytoma		An anaplastic pleomorphic xanthoastrocytoma that has_material_basis_in BRAF mutations.
http://purl.obolibrary.org/obo/DOID_0080882	IDH-mutant and 1p/19q-codeleted oligodendroglioma	http://purl.obolibrary.org/obo/DOID_7154	anaplastic oligodendroglioma		An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion).
http://purl.obolibrary.org/obo/DOID_0080883	vitamin D-dependent rickets	http://purl.obolibrary.org/obo/DOID_0080006	bone development disease		A bone development disease that is characterized by softening and weakening of the bones, hypocalcemia, high levels of parathyroid hormone and hypophosphatemia.
http://purl.obolibrary.org/obo/DOID_0080884	vitamin D-dependent rickets type 2A	http://purl.obolibrary.org/obo/DOID_0080883	vitamin D-dependent rickets		A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q.
http://purl.obolibrary.org/obo/DOID_0080885	vitamin D-dependent rickets type 2B	http://purl.obolibrary.org/obo/DOID_0080883	vitamin D-dependent rickets		A vitamin D-dependent rickets that is characterized by abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor.
http://purl.obolibrary.org/obo/DOID_0080886	vitamin D-dependent rickets type 1A	http://purl.obolibrary.org/obo/DOID_0080883	vitamin D-dependent rickets		A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0080887	vitamin D-dependent rickets type 1B	http://purl.obolibrary.org/obo/DOID_0080883	vitamin D-dependent rickets		A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15.
http://purl.obolibrary.org/obo/DOID_0080888	spinal ependymoma, MYCN-amplified	http://purl.obolibrary.org/obo/DOID_5503	spinal cord ependymoma		A spinal cord ependymoma that is characterized by MYCN amplification.
http://purl.obolibrary.org/obo/DOID_0080889	posterior fossa ependymoma	http://purl.obolibrary.org/obo/DOID_5074	high grade ependymoma		A high grade ependymoma that is located within the posterior fossa.
http://purl.obolibrary.org/obo/DOID_0080890	supratentorial ependymoma	http://purl.obolibrary.org/obo/DOID_5074	high grade ependymoma		A high grade ependymoma that is located within the supratentorial brain.
http://purl.obolibrary.org/obo/DOID_0080891	YAP1-MAMLD1 fusion-positive supratentorial ependymoma	http://purl.obolibrary.org/obo/DOID_0080890	supratentorial ependymoma		A supratentorial ependymoma that has_material_basis_in YAP1-MAMLD1 fusion.
http://purl.obolibrary.org/obo/DOID_0080892	RELA fusion-positive ependymoma	http://purl.obolibrary.org/obo/DOID_0080890	supratentorial ependymoma		A supratentorial ependymoma that has_material_basis_in presence of a RELA fusion gene.
http://purl.obolibrary.org/obo/DOID_0080893	Bainbridge-Ropers syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the ASXL3 gene on chromosome 18q12.
http://purl.obolibrary.org/obo/DOID_0080894	lipofibromatosis-like neural tumor	http://purl.obolibrary.org/obo/DOID_201	connective tissue cancer		A connective tissue cancer that has_material_basis_in LMNA-NTRK1 gene fusion.
http://purl.obolibrary.org/obo/DOID_0080895	rapidly involuting congenital hemangioma	http://purl.obolibrary.org/obo/DOID_255	hemangioma		A hemangioma that is characterized by complete regression.
http://purl.obolibrary.org/obo/DOID_0080896	pericytoma with t(7;12)	http://purl.obolibrary.org/obo/DOID_3316	perivascular tumor		A perivascular tumor that is characterized by a perivascular pattern of spindle-to-ovoid cell proliferation and that has_material_basis_in t(7;12)(p22;q13) translocation with resultant ACTB-GLI1 fusion.
http://purl.obolibrary.org/obo/DOID_0080897	solitary fibrous tumor/hemangiopericytoma	http://purl.obolibrary.org/obo/DOID_201	connective tissue cancer		A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas.
http://purl.obolibrary.org/obo/DOID_0080898	cerebellofaciodental syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32.
http://purl.obolibrary.org/obo/DOID_0070375	developmental and epileptic encephalopathy 64	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by infantile onset of seizures, severe intellectual disabilities, impaired motor functions, movement disorders, and postnatal microcephaly that has_material_basis_in heterozygous mutation in the RHOBTB2 gene on chromosome 8p21.
http://purl.obolibrary.org/obo/DOID_0070364	bradyopsia 2	http://purl.obolibrary.org/obo/DOID_0050335	bradyopsia		A braydopsia that has_material_basis_in homozygous mutation in the RGS9BP gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0070366	nevoid basal cell carcinoma syndrome 2	http://purl.obolibrary.org/obo/DOID_2512	nevoid basal cell carcinoma syndrome		A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the SUFU gene on chromosome 10q24.
http://purl.obolibrary.org/obo/DOID_0070367	leukoencephalopathy with vanishing white matter 5	http://purl.obolibrary.org/obo/DOID_0060868	leukoencephalopathy with vanishing white matter		A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B5 gene on chromosome 3q27.
http://purl.obolibrary.org/obo/DOID_0070371	leukoencephalopathy with vanishing white matter 4	http://purl.obolibrary.org/obo/DOID_0060868	leukoencephalopathy with vanishing white matter		A leukoencephalopathy with vanishing white matter that has_material_basis_in compound heterozygous mutation in the EIF2B4 gene on chromosome 2p23.
http://purl.obolibrary.org/obo/DOID_0070372	leukoencephalopathy with vanishing white matter 3	http://purl.obolibrary.org/obo/DOID_0060868	leukoencephalopathy with vanishing white matter		A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B3 gene on chromosome 1p34.
http://purl.obolibrary.org/obo/DOID_0070373	leukoencephalopathy with vanishing white matter 2	http://purl.obolibrary.org/obo/DOID_0060868	leukoencephalopathy with vanishing white matter		A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B2 gene on chromosome 14q24.
http://purl.obolibrary.org/obo/DOID_0070376	developmental and epileptic encephalopathy 31B	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay that has_material_basis_in homozygous mutation in the DNM1 gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0070396	progressive leukoencephalopathy with ovarian failure	http://purl.obolibrary.org/obo/DOID_10579	leukodystrophy		An leukodystrophy characterized by loss of motor and cognitive skills, usually with onset in young adulthood, that has_material_basis_in compound heterozygous mutation in the AARS2 gene on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0070424	combined oxidative phosphorylation deficiency 44	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FASTKD2 gene on chromosome 2q33.
http://purl.obolibrary.org/obo/DOID_0070425	combined oxidative phosphorylation deficiency 52	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency characterized by infantile onset, lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, and multisystem organ failure that has_material_basis_in homozygous mutation in the NFS1 gene on chromosome 20q11.
http://purl.obolibrary.org/obo/DOID_0070426	combined oxidative phosphorylation deficiency 53	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency characterized by congenital-to-infantile onset, hypomyelination, microcephaly, liver dysfunction, and recurrent autoinflammation that has_material_basis_in homozygous mutation in the C2ORF69 gene on chromosome 2q33.
http://purl.obolibrary.org/obo/DOID_0070427	combined oxidative phosphorylation deficiency 54	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PRORP gene on chromosome 14q13.
http://purl.obolibrary.org/obo/DOID_0070428	combined oxidative phosphorylation deficiency 55	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POLRMT gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0070429	combined oxidative phosphorylation deficiency 56	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis that has_material_basis_in compound heterozygous mutation in the TAMM41 gene on chromosome 3p25.
http://purl.obolibrary.org/obo/DOID_0070430	combined oxidative phosphorylation deficiency 57	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in compound heterozygous or homozygous mutation in the CRLS1 gene on chromosome 20p12.
http://purl.obolibrary.org/obo/DOID_0070431	hyperphosphatasia with impaired intellectual development syndrome	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder characterized by hyperphosphatasia and intellectual disability. Distinctive facial features including hypertelorism, long palpebral fissures, a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip are also often observed.
http://purl.obolibrary.org/obo/DOID_0070432	hyperphosphatasia with impaired intellectual development syndrome 5	http://purl.obolibrary.org/obo/DOID_0070431	hyperphosphatasia with impaired intellectual development syndrome		A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGW gene on chromosome 17q12.
http://purl.obolibrary.org/obo/DOID_0070433	hyperphosphatasia with impaired intellectual development syndrome 1	http://purl.obolibrary.org/obo/DOID_0070431	hyperphosphatasia with impaired intellectual development syndrome		A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGV gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0070434	hyperphosphatasia with impaired intellectual development syndrome 2	http://purl.obolibrary.org/obo/DOID_0070431	hyperphosphatasia with impaired intellectual development syndrome		A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in compound heterozygous mutation in the PIGO gene on chromosome 9p13.
http://purl.obolibrary.org/obo/DOID_0070435	hyperphosphatasia with impaired intellectual development syndrome 3	http://purl.obolibrary.org/obo/DOID_0070431	hyperphosphatasia with impaired intellectual development syndrome		A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP2 gene on chromosome 11p15.
http://purl.obolibrary.org/obo/DOID_0070436	hyperphosphatasia with impaired intellectual development syndrome 4	http://purl.obolibrary.org/obo/DOID_0070431	hyperphosphatasia with impaired intellectual development syndrome		A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP3 gene on chromosome 17q12.
http://purl.obolibrary.org/obo/DOID_0070437	hyperphosphatasia with impaired intellectual development syndrome 6	http://purl.obolibrary.org/obo/DOID_0070431	hyperphosphatasia with impaired intellectual development syndrome		A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous mutation in the PIGY gene on chromosome 4q22.
http://purl.obolibrary.org/obo/DOID_0070438	retinal macular dystrophy	http://purl.obolibrary.org/obo/DOID_4448	macular degeneration		A macular degeneration characterized by non-progression or slow progression and drusen-like deposits in varying degrees.
http://purl.obolibrary.org/obo/DOID_0070439	North Carolina macular dystrophy	http://purl.obolibrary.org/obo/DOID_0070438	retinal macular dystrophy		A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene.
http://purl.obolibrary.org/obo/DOID_0070440	retinal macular dystrophy 3	http://purl.obolibrary.org/obo/DOID_0070438	retinal macular dystrophy		A retinal macular dystrophy that has_material_basis_in variation in the chromosomal region 5p15.33-p13.1.
http://purl.obolibrary.org/obo/DOID_0070441	retinal macular dystrophy 4	http://purl.obolibrary.org/obo/DOID_0070438	retinal macular dystrophy		A retinal macular dystrophy characterized by late-onset macular degeneration, with multiple drusen-like deposits, macular geographic atrophy, and choroidal neovascularization that has_material_basis_in heterozygous mutation in the CLEC3B gene on chromosome 3p21.
http://purl.obolibrary.org/obo/DOID_0070442	paroxysmal nonkinesigenic dyskinesia 3	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia characterized by epilepsy and attacks of dystonic or choreathetotic movements, which may coexist or occur singly, that has_material_basis_in heterozygous mutation in the KCNMA1 gene on chromosome 10q22.
http://purl.obolibrary.org/obo/DOID_0070443	neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy and global developmental delay with cognitive impairment, speech delay, and prominent motor abnormalities including axial hypotonia, gait ataxia, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GEMIN5 gene on chromosome 5q33.2.
http://purl.obolibrary.org/obo/DOID_0070444	neurodevelopmental disorder with language delay and seizures	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder characterized by early-onset seizures and global developmental delay with intellectual disability and speech delay that has_material_basis_in homozygous or compound heterozygous mutation in the TIAM1 gene on chromosome 21q22.
http://purl.obolibrary.org/obo/DOID_0070445	early-onset dystonia and/or spastic paraplegia	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia characterized by variable onset of dystonia, spasticity, or both that has_material_basis_in heterozygous mutation in the ATP5MC3 gene on chromosome 2q31.1.
http://purl.obolibrary.org/obo/DOID_0070446	mitochondrial DNA depletion syndrome 16	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A mitochondrial DNA depletion syndrome characterized by infantile onset of fulminant hepatic liver failure that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23.3.
http://purl.obolibrary.org/obo/DOID_0070447	mitochondrial DNA depletion syndrome 16B	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A mitochondrial DNA depletion syndrome characterized by childhood onset of progressive neuroophthalmic manifestation including optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia and generalized chorea that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23.
http://purl.obolibrary.org/obo/DOID_0070448	mitochondrial DNA depletion syndrome 17	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A mitochondrial DNA depletion syndrome characterized by childhood onset of encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the MRM2 gene on chromosome 7p22.3. Phenotype is similar to MELAS syndrome.
http://purl.obolibrary.org/obo/DOID_0070449	mitochondrial DNA depletion syndrome 18	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A mitochondrial DNA depletion syndrome characterized by early onset progressive weakness, atrophy of the distal limb muscles, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the SLC25A21 gene on chromosome 14q11.3.
http://purl.obolibrary.org/obo/DOID_0070450	mitochondrial DNA depletion syndrome 19	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A mitochondrial DNA depletion syndrome that has_material_basis_in compound heterozygous mutation in the SLC25A10 gene on chromosome 17q25.3.
http://purl.obolibrary.org/obo/DOID_0070451	mitochondrial DNA depletion syndrome 20	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A mitochondrial DNA depletion syndrome characterized by variable neurogastrointestinal encephalopathy including severe gastrointestinal dysmotility, neurogenic bladder, muscle weakness and atrophy, headaches, stroke-like episodes, seizures, pyramidal signs, and learning difficulties or cognitive decline that has_material_basis_in compound heterozygous mutation in the LIG3 gene on chromosome 17q12.
http://purl.obolibrary.org/obo/DOID_0081352	congenital myopathy 20	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures.
http://purl.obolibrary.org/obo/DOID_0081353	congenital myopathy 21	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31.
http://purl.obolibrary.org/obo/DOID_0081354	congenital myopathy 22A	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B.
http://purl.obolibrary.org/obo/DOID_0081355	congenital myopathy 22B	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23.
http://purl.obolibrary.org/obo/DOID_0081359	epidermolytic hyperkeratosis 2	http://purl.obolibrary.org/obo/DOID_4603	epidermolytic hyperkeratosis		An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases and that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene (KRT10) on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0081370	LADD syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers.
http://purl.obolibrary.org/obo/DOID_0081371	lacrimoauriculodentodigital syndrome 2	http://purl.obolibrary.org/obo/DOID_0081370	LADD syndrome		A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments.
http://purl.obolibrary.org/obo/DOID_0081372	lacrimoauriculodentodigital syndrome 3	http://purl.obolibrary.org/obo/DOID_0081370	LADD syndrome		A LADD syndrome that is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies and that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12.
http://purl.obolibrary.org/obo/DOID_0060946	Ullrich congenital muscular dystrophy 1A	http://purl.obolibrary.org/obo/DOID_0050558	Ullrich congenital muscular dystrophy		An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A1 gene on chromosome 21q22.
http://purl.obolibrary.org/obo/DOID_0081450	hyperimmunoglobulinemia D periodic fever syndrome	http://purl.obolibrary.org/obo/DOID_2959	hyperimmunoglobulin syndrome		A hyperimmunoglobulin syndrome that is characterized as periodic fever from early infancy accompanied by elevated serum C-reactive protein and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding mevalonate kinase (MVK) on chromosome 12q24.
http://purl.obolibrary.org/obo/DOID_0081451	PFAPA syndrome	http://purl.obolibrary.org/obo/DOID_417	autoimmune disease		An autoimmune disease that is characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.
http://purl.obolibrary.org/obo/DOID_0060942	Ullrich congenital muscular dystrophy 1B	http://purl.obolibrary.org/obo/DOID_0050558	Ullrich congenital muscular dystrophy		An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A2 gene on chromosome 21q22.
http://purl.obolibrary.org/obo/DOID_0060943	Ullrich congenital muscular dystrophy 1C	http://purl.obolibrary.org/obo/DOID_0050558	Ullrich congenital muscular dystrophy		An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous or heterozygous mutation in the COL6A3 gene on chromosome 2q37.
http://purl.obolibrary.org/obo/DOID_0060947	autosomal recessive intellectual developmental disorder 82	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder characterized by global developmental delay with motor and speech delay, variably impaired intellectual development, and behavioral abnormalities has_material_basis_in homozygous mutation in the NSUN6 gene on chromosome 10p12.
http://purl.obolibrary.org/obo/DOID_0081449	cone-rod dystrophy 24	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A cone-rod dystrophy that is characterized by night blindness, defective color vision, and reduced visual acuity and that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.
http://purl.obolibrary.org/obo/DOID_0081452	large B-cell lymphoma	http://purl.obolibrary.org/obo/DOID_707	B-cell lymphoma		A B-cell lymphoma that is characterized by large lymphoid cells of the B-cell lineage that by definition form sheets or clusters.
http://purl.obolibrary.org/obo/DOID_0070544	congenital glutamine deficiency	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities that has_material_basis_in homozygous mutation in the GLUL gene on chromosome 1q25.3.
http://purl.obolibrary.org/obo/DOID_0070550	KRT1-related nonepidermolytic palmoplantar keratoderma	http://purl.obolibrary.org/obo/DOID_0050428	nonepidermolytic palmoplantar keratoderma		A nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13.
http://purl.obolibrary.org/obo/DOID_0070547	primary pigmented nodular adrenocortical disease 2	http://purl.obolibrary.org/obo/DOID_0060280	primary pigmented nodular adrenocortical disease		A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE11A gene on chromosome 2q31.2.
http://purl.obolibrary.org/obo/DOID_0060971	interstitial lung disease 2	http://purl.obolibrary.org/obo/DOID_3082	interstitial lung disease		An interstitial lung disease pulmonary fibrosis that is characterized by scarring of the lung and that has_material_basis_in heterozygous mutation in the SFTPA2 gene on chromosome 10q22.
http://purl.obolibrary.org/obo/DOID_0070584	spermatogenic failure 85	http://purl.obolibrary.org/obo/DOID_0112312	male infertility due to globozoospermia		A spermatogenic failure characterized by globozoospermia and reduced progressive motility that has_material_basis_in homozygous mutation in the SPACA1 gene on chromosome 6q15.
http://purl.obolibrary.org/obo/DOID_0070605	autosomal dominant nonsyndromic deafness 85	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the USP48 gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0070616	glycine encephalopathy 1	http://purl.obolibrary.org/obo/DOID_9268	glycine encephalopathy		A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GLDC gene, a member of the mitochondrial glycine cleavage system that encodes the P protein, on chromosome 9p24.
http://purl.obolibrary.org/obo/DOID_0051002	congenital dyserythropoietic anemia type IVb	http://purl.obolibrary.org/obo/DOID_1338	congenital dyserythropoietic anemia		A congenital dyserythropoietic anemia characterized by neonatal jaundice, hyperbilirubinemia, and severe congenital hemolytic anemia requiring transfusionn and that has_material_basis_in homozygous or compound heterozygous mutation in the KLF1 gene on chromosome 19p13.13.
http://purl.obolibrary.org/obo/DOID_0061146	Pan-Chung-Bellen syndrome	http://purl.obolibrary.org/obo/DOID_0050888	syndromic intellectual disability		A syndromic intellectual disability characterized by developmental delay, impaired intellectual development, dysmorphic features, and congenital anomalies in cardiovascular, skeletal, gastrointestinal, renal, and urogenital systems that has_material_basis_in heterozygous mutation in the FRY-like transcription coactivator gene on chromosome 4p11.
http://purl.obolibrary.org/obo/CHEBI_30785	methylmercury(.)	http://purl.obolibrary.org/obo/CHEBI_64909	poison		A poison that is methylmercury.
http://purl.obolibrary.org/obo/CHEBI_35446	chlorobiphenyl	http://purl.obolibrary.org/obo/CHEBI_138015	endocrine disruptor		A chloroarene that consists of a biphenyl skeleton substituted by one or more chloro groups.
http://purl.obolibrary.org/obo/NCBITaxon_6954	Dermatophagoides farinae	http://purl.obolibrary.org/obo/CHEBI_50904	allergen		An allergen that is an American house dust mite, microscopic, insect-like pests that commonly live in house dust. They feed on flakes of dead skin, or dander, that are shed by people and pets. These tiny creatures are a big source of allergens and can worsen allergies and asthma. Dust mites can live in mattresses, bedding, upholstered furniture, carpets, and curtains in your home.
http://purl.obolibrary.org/obo/NCBITaxon_6956	Dermatophagoides pteronyssinus	http://purl.obolibrary.org/obo/CHEBI_50904	allergen		An allergen that is an European house dust mite, microscopic, insect-like pests that commonly live in house dust. They feed on flakes of dead skin, or dander, that are shed by people and pets. These tiny creatures are a big source of allergens and can worsen allergies and asthma. Dust mites can live in mattresses, bedding, upholstered furniture, carpets, and curtains in your home.
http://purl.obolibrary.org/obo/SYMP_0000729	pulmonary consolidation	http://purl.obolibrary.org/obo/SYMP_0000514	respiratory system and chest symptom		A respiratory system and chest symptom that is characterized by a region of normally compressible lung tissue that has filled with liquid instead of air.
http://purl.obolibrary.org/obo/DOID_0060886	osteopathia striata with cranial sclerosis	http://purl.obolibrary.org/obo/DOID_4254	osteosclerosis		An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has_material_basis_in mutation in the AMER1 gene on chromosome Xq11.
http://purl.obolibrary.org/obo/DOID_0060887	ossification of the posterior longitudinal ligament of spine	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia.
http://purl.obolibrary.org/obo/DOID_0060888	transient myeloproliferative syndrome	http://purl.obolibrary.org/obo/DOID_2226	myeloproliferative neoplasm		A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome.
http://purl.obolibrary.org/obo/DOID_0060889	prune belly syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43.
http://purl.obolibrary.org/obo/DOID_0060890	ectopic Cushing syndrome	http://purl.obolibrary.org/obo/DOID_446	primary hyperaldosteronism		A primary hyperaldosteronism that is characterized by a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone.
http://purl.obolibrary.org/obo/DOID_0060891	Parkinson's disease 19A	http://purl.obolibrary.org/obo/DOID_0060894	early-onset Parkinson's disease		An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31.
http://purl.obolibrary.org/obo/DOID_0060892	late onset Parkinson's disease	http://purl.obolibrary.org/obo/DOID_14330	Parkinson's disease		A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age.
http://purl.obolibrary.org/obo/DOID_0060893	juvenile-onset Parkinson's disease	http://purl.obolibrary.org/obo/DOID_0060894	early-onset Parkinson's disease		An early-onset Parkinson's disease that is characterized by onset of motor symptoms prior to 21 years of age.
http://purl.obolibrary.org/obo/DOID_0060894	early-onset Parkinson's disease	http://purl.obolibrary.org/obo/DOID_14330	Parkinson's disease		A Parkinson's disease characterized by onset of motor symptoms earlier than typically seen, usually prior to 50 years of age.
http://purl.obolibrary.org/obo/DOID_0060895	Parkinson's disease 4	http://purl.obolibrary.org/obo/DOID_0060892	late onset Parkinson's disease		A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene on chromosome 4q22.
http://purl.obolibrary.org/obo/DOID_0060896	Parkinson's disease 23	http://purl.obolibrary.org/obo/DOID_0060894	early-onset Parkinson's disease		An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22.
http://purl.obolibrary.org/obo/DOID_0060897	Parkinson's disease 17	http://purl.obolibrary.org/obo/DOID_0060892	late onset Parkinson's disease		A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13.
http://purl.obolibrary.org/obo/DOID_0060898	Parkinson's disease 20	http://purl.obolibrary.org/obo/DOID_0060894	early-onset Parkinson's disease		An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22.
http://purl.obolibrary.org/obo/DOID_0060900	Parkinson's disease 14	http://purl.obolibrary.org/obo/DOID_0060892	late onset Parkinson's disease		A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13.
http://purl.obolibrary.org/obo/DOID_0080174	bladder exstrophy	http://purl.obolibrary.org/obo/DOID_0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. The rear portion of the bladder wall (posterior vesical wall) turns outward (exstrophy) through an opening in the abdominal wall and urine is excreted through this opening.
http://purl.obolibrary.org/obo/DOID_0080175	cloacal exstrophy	http://purl.obolibrary.org/obo/DOID_0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by a defect in the urethra, bladder and bowel.
http://purl.obolibrary.org/obo/DOID_0080176	meningococcal meningitis	http://purl.obolibrary.org/obo/DOID_9470	bacterial meningitis		A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection.
http://purl.obolibrary.org/obo/DOID_0080177	hepatic veno-occlusive disease	http://purl.obolibrary.org/obo/DOID_272	hepatic vascular disease		A hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver.
http://purl.obolibrary.org/obo/DOID_0080178	mucositis	http://purl.obolibrary.org/obo/DOID_77	gastrointestinal system disease		A gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract.
http://purl.obolibrary.org/obo/DOID_0080179	haemophilus meningitis	http://purl.obolibrary.org/obo/DOID_9470	bacterial meningitis		A bacterial meningitis that has_material_basis_in Haemophilus influenzae infection.
http://purl.obolibrary.org/obo/DOID_0090001	Fraser syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14.
http://purl.obolibrary.org/obo/DOID_0090002	Tietz syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13.
http://purl.obolibrary.org/obo/DOID_0090003	agenesis of the corpus callosum with peripheral neuropathy	http://purl.obolibrary.org/obo/DOID_1289	neurodegenerative disease		A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14.
http://purl.obolibrary.org/obo/DOID_0090004	progressive pseudorheumatoid arthropathy of childhood	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22.
http://purl.obolibrary.org/obo/DOID_0090005	Schwartz-Jampel syndrome 1	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0090006	renal coloboma syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24.
http://purl.obolibrary.org/obo/DOID_0090007	immunodeficiency-centromeric instability-facial anomalies syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases.
http://purl.obolibrary.org/obo/DOID_0090008	immunodeficiency-centromeric instability-facial anomalies syndrome 1	http://purl.obolibrary.org/obo/DOID_0090007	immunodeficiency-centromeric instability-facial anomalies syndrome		An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2.
http://purl.obolibrary.org/obo/DOID_0090009	immunodeficiency-centromeric instability-facial anomalies syndrome 2	http://purl.obolibrary.org/obo/DOID_0090007	immunodeficiency-centromeric instability-facial anomalies syndrome		An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the ZBTB24 gene on chromosome 6q21.
http://purl.obolibrary.org/obo/DOID_0090010	immunodeficiency-centromeric instability-facial anomalies syndrome 3	http://purl.obolibrary.org/obo/DOID_0090007	immunodeficiency-centromeric instability-facial anomalies syndrome		An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous mutation in the CDCA7 gene on chromosome 2q31.
http://purl.obolibrary.org/obo/DOID_0090011	immunodeficiency-centromeric instability-facial anomalies syndrome 4	http://purl.obolibrary.org/obo/DOID_0090007	immunodeficiency-centromeric instability-facial anomalies syndrome		An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the HELLS gene on chromosome 10q23.
http://purl.obolibrary.org/obo/DOID_0090012	severe combined immunodeficiency with sensitivity to ionizing radiation	http://purl.obolibrary.org/obo/DOID_627	severe combined immunodeficiency		A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13.
http://purl.obolibrary.org/obo/DOID_0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive	http://purl.obolibrary.org/obo/DOID_627	severe combined immunodeficiency		A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12.
http://purl.obolibrary.org/obo/DOID_0090014	severe combined immunodeficiency 104	http://purl.obolibrary.org/obo/DOID_627	severe combined immunodeficiency		A severe combined immunodeficiency that is characterized by the onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13.
http://purl.obolibrary.org/obo/DOID_0090015	Cenani-Lenz syndactyly syndrome	http://purl.obolibrary.org/obo/DOID_1934	dysostosis		A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11.
http://purl.obolibrary.org/obo/DOID_0090016	chromosome 5q deletion syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q.
http://purl.obolibrary.org/obo/DOID_0090017	epidermolysis bullosa simplex with muscular dystrophy	http://purl.obolibrary.org/obo/DOID_225	syndrome		An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24.
http://purl.obolibrary.org/obo/DOID_0090018	TNF receptor–associated periodic syndrome	http://purl.obolibrary.org/obo/DOID_0051000	autoinflammatory disease		An autoinflammatory disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13.
http://purl.obolibrary.org/obo/DOID_0090019	sitosterolemia	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		An intestinal disease with autosomal recessive inheritance characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia.
http://purl.obolibrary.org/obo/DOID_0090020	split hand-foot malformation	http://purl.obolibrary.org/obo/DOID_0080006	bone development disease		A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.
http://purl.obolibrary.org/obo/DOID_0090021	split hand-foot malformation 1	http://purl.obolibrary.org/obo/DOID_0090020	split hand-foot malformation		A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region.
http://purl.obolibrary.org/obo/DOID_0090022	split hand-foot malformation 5	http://purl.obolibrary.org/obo/DOID_0090020	split hand-foot malformation		A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31.
http://purl.obolibrary.org/obo/DOID_0090023	split hand-foot malformation 4	http://purl.obolibrary.org/obo/DOID_0090020	split hand-foot malformation		A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.
http://purl.obolibrary.org/obo/DOID_0090024	split hand-foot malformation 1 with sensorineural hearing loss	http://purl.obolibrary.org/obo/DOID_0090020	split hand-foot malformation		A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21.
http://purl.obolibrary.org/obo/DOID_0090025	split hand-foot malformation 3	http://purl.obolibrary.org/obo/DOID_0090020	split hand-foot malformation		A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24.
http://purl.obolibrary.org/obo/DOID_0090026	split hand-foot malformation 6	http://purl.obolibrary.org/obo/DOID_0090020	split hand-foot malformation		A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0090027	split hand-foot malformation 2	http://purl.obolibrary.org/obo/DOID_0090020	split hand-foot malformation		A split-hand/foot malformation that has_material_basis_in variation in the chromosome region Xq26.
http://purl.obolibrary.org/obo/DOID_0090028	familial isolated deficiency of vitamin E	http://purl.obolibrary.org/obo/DOID_0050718	vitamin metabolic disorder		A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12.
http://purl.obolibrary.org/obo/DOID_0090029	CINCA Syndrome	http://purl.obolibrary.org/obo/DOID_417	autoimmune disease		An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q.
http://purl.obolibrary.org/obo/DOID_0090030	corticosteroid-binding globulin deficiency	http://purl.obolibrary.org/obo/DOID_9553	adrenal gland disease		An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32.
http://purl.obolibrary.org/obo/DOID_0090031	D-bifunctional protein deficiency	http://purl.obolibrary.org/obo/DOID_906	peroxisomal disease		A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dying before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2.
http://purl.obolibrary.org/obo/DOID_0090032	Silverman-Handmaker type dyssegmental dysplasia	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0090033	myoclonic dystonia	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles and dystonia, usually torticollis or writer's cramp, that typically responds to alcohol and has onset in the first or second decade of life.
http://purl.obolibrary.org/obo/DOID_0090034	myoclonic dystonia 11	http://purl.obolibrary.org/obo/DOID_0090033	myoclonic dystonia		A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21.
http://purl.obolibrary.org/obo/DOID_0090035	myoclonic dystonia 15	http://purl.obolibrary.org/obo/DOID_0090033	myoclonic dystonia		A myoclonic dystonia that is characterized by jerky movements of the upper limbs, hands, and axial muscles, and has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p11.
http://purl.obolibrary.org/obo/DOID_0090036	myoclonic dystonia 26	http://purl.obolibrary.org/obo/DOID_0090033	myoclonic dystonia		A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predominant involvement of the craniocervical regions, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the KCTD17 gene on chromosome 22q12.
http://purl.obolibrary.org/obo/DOID_0090037	torsion dystonia 13	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia that is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 1p36.32-p36.13.
http://purl.obolibrary.org/obo/DOID_0090038	torsion dystonia 2	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35.
http://purl.obolibrary.org/obo/DOID_0090039	torsion dystonia 6	http://purl.obolibrary.org/obo/DOID_0050835	generalized dystonia		A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11.
http://purl.obolibrary.org/obo/DOID_0090040	torsion dystonia 7	http://purl.obolibrary.org/obo/DOID_0050836	focal dystonia		A focal dystonia that is characterized by predominantly cervical dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p.
http://purl.obolibrary.org/obo/DOID_0090041	torsion dystonia 4	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4A class IVa (TUBB4A) gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0090042	torsion dystonia 17	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia that is characterized by progressive dystonia, dysphonia, dysarthria and neck torticollis, and has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 20p11.2-q13.12.
http://purl.obolibrary.org/obo/DOID_0090043	dopa-responsive dystonia	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13.
http://purl.obolibrary.org/obo/DOID_0090044	dystonia 9	http://purl.obolibrary.org/obo/DOID_0070560	glucose transporter type 1 deficiency syndrome		A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34.
http://purl.obolibrary.org/obo/DOID_0090045	glucose transporter type 1 deficiency syndrome 2	http://purl.obolibrary.org/obo/DOID_0070560	glucose transporter type 1 deficiency syndrome		A dystonia characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs that has_material_basis_in heterozygous mutation in the SLC2A1 gene on chromosome 1p34.
http://purl.obolibrary.org/obo/DOID_0090046	dystonia 21	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia characterized by late onset pure torsion dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q14.3-q21.3.
http://purl.obolibrary.org/obo/DOID_0090047	paroxysmal nonkinesigenic dyskinesia 2	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q31.
http://purl.obolibrary.org/obo/DOID_0090048	dystonia 16	http://purl.obolibrary.org/obo/DOID_0050837	multifocal dystonia		A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31.
http://purl.obolibrary.org/obo/DOID_0090049	paroxysmal nonkinesigenic dyskinesia 1	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35.
http://purl.obolibrary.org/obo/DOID_0090050	dystonia 27	http://purl.obolibrary.org/obo/DOID_0050838	segmental dystonia		A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37.
http://purl.obolibrary.org/obo/DOID_0090051	dystonia 23	http://purl.obolibrary.org/obo/DOID_0050836	focal dystonia		A focal dystonia characterized by adult-onset cervical dystonia typically in the fourth or fifth decade of life that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the CACNA1B gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0090052	dystonia 24	http://purl.obolibrary.org/obo/DOID_0050836	focal dystonia		A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14.
http://purl.obolibrary.org/obo/DOID_0090053	episodic kinesigenic dyskinesia 1	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11.
http://purl.obolibrary.org/obo/DOID_0090054	episodic kinesigenic dyskinesia 2	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia that is characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 16q13-q22.1.
http://purl.obolibrary.org/obo/DOID_0090055	dystonia 25	http://purl.obolibrary.org/obo/DOID_0050837	multifocal dystonia		A multifocal dystonia that is characterized by cervical, laryngeal and hand-forearm dystonia, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the GNAL gene on chromosome 18p11.
http://purl.obolibrary.org/obo/DOID_0090056	dystonia 12	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0090057	X-linked dystonia-parkinsonism	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in X-linked recessive inheritance of SVA retrotransposon insertion in the intron of the TATA-box binding protein associated factor 1 gene (TAF1) on chromosome Xq13.1.
http://purl.obolibrary.org/obo/DOID_0090058	torsion dystonia with onset in infancy	http://purl.obolibrary.org/obo/DOID_0050835	generalized dystonia		A generalized dystonia that is characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy.
http://purl.obolibrary.org/obo/DOID_0090059	enhanced S-cone syndrome	http://purl.obolibrary.org/obo/DOID_5679	retinal disease		A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration.
http://purl.obolibrary.org/obo/DOID_0090060	Wolcott-Rallison syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3) gene on chromosome 2p11.2.
http://purl.obolibrary.org/obo/DOID_0090061	familial cold autoinflammatory syndrome	http://purl.obolibrary.org/obo/DOID_0051000	autoinflammatory disease		An autoinflammatory disease that is characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.
http://purl.obolibrary.org/obo/DOID_0090062	familial cold autoinflammatory syndrome 1	http://purl.obolibrary.org/obo/DOID_0090061	familial cold autoinflammatory syndrome		A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44.
http://purl.obolibrary.org/obo/DOID_0090063	familial cold autoinflammatory syndrome 2	http://purl.obolibrary.org/obo/DOID_0090061	familial cold autoinflammatory syndrome		A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP12 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0090064	familial cold autoinflammatory syndrome 3	http://purl.obolibrary.org/obo/DOID_0090061	familial cold autoinflammatory syndrome		A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q.
http://purl.obolibrary.org/obo/DOID_0090065	familial cold autoinflammatory syndrome 4	http://purl.obolibrary.org/obo/DOID_0090061	familial cold autoinflammatory syndrome		A familial cold autoinflammatory syndrome that is characterized by episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the NLRC4 gene on chromosome 2p22.
http://purl.obolibrary.org/obo/DOID_0090066	Fanconi-like syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.
http://purl.obolibrary.org/obo/DOID_0090067	Fuhrmann syndrome	http://purl.obolibrary.org/obo/DOID_0080006	bone development disease		A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25.
http://purl.obolibrary.org/obo/DOID_0090068	giant axonal neuropathy 1	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23.
http://purl.obolibrary.org/obo/DOID_0090069	giant axonal neuropathy 2	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An axonal neuopathy that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the DDB1- and CUL4-associated factor 8 (DCAF8) gene on chromosome 1q23.
http://purl.obolibrary.org/obo/DOID_0090071	hypogonadotropic hypogonadism 11 with or without anosmia	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TACR3 gene on chromosome 4q24.
http://purl.obolibrary.org/obo/DOID_0090072	hypogonadotropic hypogonadism 12 with or without anosmia	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21.
http://purl.obolibrary.org/obo/DOID_0090073	hypogonadotropic hypogonadism 13 with or without anosmia	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the KISS1 gene on chromosome 1q32.
http://purl.obolibrary.org/obo/DOID_0090074	hypogonadotropic hypogonadism 8 with or without anosmia	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the KISS1R gene on chromosome 19p13, sometimes in association with mutation in other genes.
http://purl.obolibrary.org/obo/DOID_0090075	hypogonadotropic hypogonadism 15 with or without anosmia	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A hypogonadotropic hypogonadism that has_material_basis_in mutation in the HS6ST1 gene on chromosome 2q14, sometimes in association with mutations in other genes.
http://purl.obolibrary.org/obo/DOID_0090076	hypogonadotropic hypogonadism 18 with or without anosmia	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A hypogonadotropic hypogonadism that has_material_basis_in heterozygous or homozygous mutation in the IL17RD gene on chromosome 3p14, sometimes in association with mutation in other genes.
http://purl.obolibrary.org/obo/DOID_0090077	hypogonadotropic hypogonadism 4 with or without anosmia	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the prokineticin-2 gene (PROK2) on chromosome 3p13, sometimes in association with mutation in another gene.
http://purl.obolibrary.org/obo/DOID_0090078	hypogonadotropic hypogonadism 7 with or without anosmia	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.
http://purl.obolibrary.org/obo/DOID_0090079	hypogonadotropic hypogonadism 17 with or without anosmia	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the SPRY4 gene on chromosome 5q31, sometimes in association with mutations in other genes.
http://purl.obolibrary.org/obo/DOID_0090080	hypogonadotropic hypogonadism 16 with or without anosmia	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A hypogonadotropic hypogonadism that has_material_basis_in mutation in the SEMA3A gene on chromosome 7, sometimes in association with mutations in other genes.
http://purl.obolibrary.org/obo/DOID_0090081	hypogonadotropic hypogonadism 22 with or without anosmia	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the FEZF1 gene on chromosome 7q31.
http://purl.obolibrary.org/obo/DOID_0090082	hypogonadotropic hypogonadism 20 with or without anosmia	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGF17 gene on chromosome 8p21, sometimes in association with mutations in other genes.
http://purl.obolibrary.org/obo/DOID_0090083	hypogonadotropic hypogonadism 2 with or without anosmia	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes.
http://purl.obolibrary.org/obo/DOID_0090084	hypogonadotropic hypogonadism 5 with or without anosmia	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CHD7 gene on chromosome 8q12.
http://purl.obolibrary.org/obo/DOID_0090085	hypogonadotropic hypogonadism 9 with or without anosmia	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the NELF gene on chromosome 9q34, sometimes in association with mutation in another gene.
http://purl.obolibrary.org/obo/DOID_0090086	hypogonadotropic hypogonadism 6 with or without anosmia	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene.
http://purl.obolibrary.org/obo/DOID_0090087	hypogonadotropic hypogonadism 14 with or without anosmia	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the WDR11 gene on chromosome 10q26.
http://purl.obolibrary.org/obo/DOID_0090088	hypogonadotropic hypogonadism 24 without anosmia	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14.
http://purl.obolibrary.org/obo/DOID_0090089	hypogonadotropic hypogonadism 10 with or without anosmia	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TAC3 gene on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0090090	hypogonadotropic hypogonadism 19 with or without anosmia	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the DUSP6 gene on chromosome 12q22, sometimes in association with mutations in other genes.
http://purl.obolibrary.org/obo/DOID_0090091	hypogonadotropic hypogonadism 23 with or without anosmia	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0090092	hypogonadotropic hypogonadism 3 with or without anosmia	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the PROKR2 gene on chromosome 20p12, sometimes in association with mutation in another gene.
http://purl.obolibrary.org/obo/DOID_0090093	hypogonadotropic hypogonadism 21 with or without anosmia	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FLRT3 gene on 20p11, sometimes in association with mutations in other genes.
http://purl.obolibrary.org/obo/DOID_0090094	hypogonadotropic hypogonadism 1 with or without anosmia	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A hypogonadotropic hypogonadism that has_material_basis_in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene.
http://purl.obolibrary.org/obo/DOID_0110712	Oguchi disease-1	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37.
http://purl.obolibrary.org/obo/DOID_0110713	Oguchi disease-2	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous mutation in the GRK1 gene on chromosome 13q34.
http://purl.obolibrary.org/obo/DOID_0110910	leukocyte adhesion deficiency 1	http://purl.obolibrary.org/obo/DOID_6612	leukocyte adhesion deficiency		A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3.
http://purl.obolibrary.org/obo/DOID_0110912	leukocyte adhesion deficiency 3	http://purl.obolibrary.org/obo/DOID_6612	leukocyte adhesion deficiency		A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in FERMT3 gene on chromosome 11q12.
http://purl.obolibrary.org/obo/DOID_0080342	Simpson-Golabi-Behmel syndrome type 2	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems.
http://purl.obolibrary.org/obo/DOID_0080343	autosomal recessive pyridoxine-refractory sideroblastic anemia 3	http://purl.obolibrary.org/obo/DOID_8955	sideroblastic anemia		A sideroblastic anemia that is characterized by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32.
http://purl.obolibrary.org/obo/DOID_0080344	blepharocheilodontic syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth.
http://purl.obolibrary.org/obo/DOID_0080345	blepharocheilodontic syndrome 1	http://purl.obolibrary.org/obo/DOID_0080344	blepharocheilodontic syndrome		A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CDH1 gene on chromosome 16q22.
http://purl.obolibrary.org/obo/DOID_0080346	blepharocheilodontic syndrome 2	http://purl.obolibrary.org/obo/DOID_0080344	blepharocheilodontic syndrome		A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CTNND1 gene on chromosome 11q12.
http://purl.obolibrary.org/obo/DOID_0080347	malignant pheochromocytoma	http://purl.obolibrary.org/obo/DOID_5719	adrenal medulla cancer		An adrenal medulla cancer that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones.
http://purl.obolibrary.org/obo/DOID_0080348	Alzheimer's disease 1	http://purl.obolibrary.org/obo/DOID_10652	Alzheimer's disease		An Alzheimer's disease that has_material_basis_in mutation heterozygous mutation in the APP gene, which encodes the amyloid precursor protein, on chromosome 21q21.
http://purl.obolibrary.org/obo/DOID_0080349	developmental and epileptic encephalopathy 39	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31.
http://purl.obolibrary.org/obo/DOID_0080350	retinitis pigmentosa 77	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in mutation in the REEP6 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0080351	CLOVES syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformation, and epidermal nevi that has_material_basis_in somatic mosaicism for postzygotic activating mutations in the PIK3CA gene on chromosome 3q26.
http://purl.obolibrary.org/obo/DOID_0080603	ankylosing spondylitis 1	http://purl.obolibrary.org/obo/DOID_7147	ankylosing spondylitis		A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 6p21.3.
http://purl.obolibrary.org/obo/DOID_0080604	ankylosing spondylitis 2	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 9q31-q34.
http://purl.obolibrary.org/obo/DOID_0080605	ankylosing spondylitis 3	http://purl.obolibrary.org/obo/DOID_7147	ankylosing spondylitis		A ankylosing spondylitis that has_material_basis_in variation in the HLA-B allele on chromosome 2q36.1-q36.3.
http://purl.obolibrary.org/obo/DOID_0080606	anterior segment dysgenesis 1	http://purl.obolibrary.org/obo/DOID_0060648	anterior segment dysgenesis		An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24.
http://purl.obolibrary.org/obo/DOID_0080607	anterior segment dysgenesis 2	http://purl.obolibrary.org/obo/DOID_0060648	anterior segment dysgenesis		An anterior segment dysgenesis that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the FOXE3 gene on chromosome 1p33.
http://purl.obolibrary.org/obo/DOID_0080608	anterior segment dysgenesis 3	http://purl.obolibrary.org/obo/DOID_0060648	anterior segment dysgenesis		An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25.
http://purl.obolibrary.org/obo/DOID_0080609	anterior segment dysgenesis 4	http://purl.obolibrary.org/obo/DOID_0060648	anterior segment dysgenesis		An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25.
http://purl.obolibrary.org/obo/DOID_0080610	anterior segment dysgenesis 5	http://purl.obolibrary.org/obo/DOID_0060648	anterior segment dysgenesis		An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.
http://purl.obolibrary.org/obo/DOID_0080611	anterior segment dysgenesis 6	http://purl.obolibrary.org/obo/DOID_0060648	anterior segment dysgenesis		An anterior segment dysgenesis that has_material_basis_in compound heterozygous mutation in the CYP1B1 gene on chromosome 2p22.
http://purl.obolibrary.org/obo/DOID_0080612	anterior segment dysgenesis 7	http://purl.obolibrary.org/obo/DOID_0060648	anterior segment dysgenesis		An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25.
http://purl.obolibrary.org/obo/DOID_0080613	anterior segment dysgenesis 8	http://purl.obolibrary.org/obo/DOID_0060648	anterior segment dysgenesis		An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the CPAMD8 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0111670	primary hyperoxaluria type 1	http://purl.obolibrary.org/obo/DOID_2977	primary hyperoxaluria		A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3.
http://purl.obolibrary.org/obo/DOID_0111671	primary hyperoxaluria type 2	http://purl.obolibrary.org/obo/DOID_2977	primary hyperoxaluria		A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2.
http://purl.obolibrary.org/obo/DOID_0111672	primary hyperoxaluria type 3	http://purl.obolibrary.org/obo/DOID_2977	primary hyperoxaluria		A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in the HOGA1 gene on chromosome 10q24.2.
http://purl.obolibrary.org/obo/DOID_0111673	Saul-Wilson syndrome	http://purl.obolibrary.org/obo/DOID_0080006	bone development disease		A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in the COG4 gene on chromosome 16q22.1.
http://purl.obolibrary.org/obo/DOID_0111674	intellectual developmental disorder with short stature and behavioral abnormalities	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the IQSEC1 gene on chromosome 3p25.2-p25.1.
http://purl.obolibrary.org/obo/DOID_0111675	neurooculocardiogenitourinary syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by impaired growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems that has_material_basis_in heterozygous mutation in the WDR37 gene on chromosome 10p15.3.
http://purl.obolibrary.org/obo/DOID_0111676	high molecular weight kininogen deficiency	http://purl.obolibrary.org/obo/DOID_1247	blood coagulation disease		A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in the KNG1 gene on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by the KNG1 gene.
http://purl.obolibrary.org/obo/DOID_0111677	familial benign fleck retina	http://purl.obolibrary.org/obo/DOID_5679	retinal disease		A retinal disease characterized by a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but with no apparent visual or electrophysiologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the PLA2G5 gene on chromosome 1p36.13.
http://purl.obolibrary.org/obo/DOID_0111678	hereditary folate malabsorption	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the SLC46A1 gene on chromosome 17q11.2.
http://purl.obolibrary.org/obo/DOID_0111679	glutamate formiminotransferase deficiency	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that has_material_basis_in homozygous or compound heterozygous mutation in the FTCD gene on chromosome 21q22.3.
http://purl.obolibrary.org/obo/DOID_0111680	essential fructosuria	http://purl.obolibrary.org/obo/DOID_2978	carbohydrate metabolic disorder		A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has_material_basis_in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3.
http://purl.obolibrary.org/obo/DOID_0111681	congenital nonspherocytic hemolytic anemia 7	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder and a congenital nonspherocytic hemolytic anemia that is characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GCLC gene on chromosome 6p12.1.
http://purl.obolibrary.org/obo/DOID_0111682	cystic renal dysplasia	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in the BICC1 gene on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder.
http://purl.obolibrary.org/obo/DOID_0111683	neurofibromatosis-Noonan syndrome	http://purl.obolibrary.org/obo/DOID_0080690	RASopathy		A RASopathy characterized by neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2.
http://purl.obolibrary.org/obo/DOID_0111684	hereditary mixed polyposis syndrome	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		An intestinal disease characterized by a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer when untreated.
http://purl.obolibrary.org/obo/DOID_0111685	hereditary mixed polyposis syndrome 1	http://purl.obolibrary.org/obo/DOID_0111684	hereditary mixed polyposis syndrome		A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous duplication of a region on chromosome 15q15.3-q22.1.
http://purl.obolibrary.org/obo/DOID_0111686	hereditary mixed polyposis syndrome 2	http://purl.obolibrary.org/obo/DOID_0111684	hereditary mixed polyposis syndrome		A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous mutation in the BMPR1A gene on chromosome 10q23.2.
http://purl.obolibrary.org/obo/DOID_0111687	Potocki-Shaffer syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2.
http://purl.obolibrary.org/obo/DOID_0111688	Ayme-Gripp syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has_material_basis_in heterozygous mutation in MAF on chromosome 16q23.2.
http://purl.obolibrary.org/obo/DOID_0111689	familial adult myoclonic epilepsy	http://purl.obolibrary.org/obo/DOID_0050705	adolescence-adult electroclinical syndrome		An adolescence-adult electroclinical syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities.
http://purl.obolibrary.org/obo/DOID_0111690	familial adult myoclonic epilepsy 1	http://purl.obolibrary.org/obo/DOID_0111689	familial adult myoclonic epilepsy		A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the SAMD12 gene on chromosome 8q24.11-q24.12.
http://purl.obolibrary.org/obo/DOID_0111691	familial adult myoclonic epilepsy 5	http://purl.obolibrary.org/obo/DOID_0111689	familial adult myoclonic epilepsy		A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in the CNTN2 gene on chromosome 1q32.1.
http://purl.obolibrary.org/obo/DOID_0111692	familial adult myoclonic epilepsy 2	http://purl.obolibrary.org/obo/DOID_0111689	familial adult myoclonic epilepsy		A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in a heterozygous 5-bp repeat expansion in STARD7 on chromosome 2q11.2.
http://purl.obolibrary.org/obo/DOID_0111693	familial adult myoclonic epilepsy 4	http://purl.obolibrary.org/obo/DOID_0111689	familial adult myoclonic epilepsy		A familial adult myoclonic epilepsy that has_material_basis_in heterozygous mutation in the YEATS2 gene on chromosome 3q27.1.
http://purl.obolibrary.org/obo/DOID_0111694	familial adult myoclonic epilepsy 7	http://purl.obolibrary.org/obo/DOID_0111689	familial adult myoclonic epilepsy		A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the RAPGEF2 gene on chromosome 4q32.1.
http://purl.obolibrary.org/obo/DOID_0111695	familial adult myoclonic epilepsy 3	http://purl.obolibrary.org/obo/DOID_0111689	familial adult myoclonic epilepsy		A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in the MARCHF6 gene on chromosome 5p15.2.
http://purl.obolibrary.org/obo/DOID_0111696	familial adult myoclonic epilepsy 6	http://purl.obolibrary.org/obo/DOID_0111689	familial adult myoclonic epilepsy		A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the TNRC6A gene on chromosome 16p12.1.
http://purl.obolibrary.org/obo/CHEBI_172368	brominated flame retardant	http://purl.obolibrary.org/obo/CHEBI_79314	flame retardant		A flame retardant that is brominated flame retardant, contain bromine and are the most abundantly used flame retardants. Used in many consumer goods, including electronics, furniture, building materials, etc. and have been linked to endocrine disruption among other effects.
http://purl.obolibrary.org/obo/CHEBI_172390	glycol ether	http://purl.obolibrary.org/obo/DISDRIV_0000006	chemical driver		A hydroxyether which contains both an ether and alcohol functional groups. It is one of the most versatile classes of organic solvents which are commonly used in paints, cleaners, adhesives, pharmaceuticals and cosmetics.
http://purl.obolibrary.org/obo/CHEBI_172397	perfluoroalkyl substance	http://purl.obolibrary.org/obo/CHEBI_138015	endocrine disruptor		An endocrine disruptor that is perfluoroalkyl substance, used widely in industrial applications, such as firefighting foams and non-stick pan, paper, and textile coatings.
http://purl.obolibrary.org/obo/SYMP_0020044	hair shedding	http://purl.obolibrary.org/obo/SYMP_0020040	hair symptom		A hair symptom that is characterized by significant falling out of hair, which may be a result of stress, high fever, and other factors.
http://purl.obolibrary.org/obo/DOID_0081262	intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features, and that has_material_basis_in heterozygous mutation in the TNPO2 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0081263	neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the GEMIN4 gene on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0081264	developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has_material_basis_in homozygous ultra-rare REV3L variant (T2753R).
http://purl.obolibrary.org/obo/DOID_0081265	intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that is characterized by abnormal behavior, microcephaly, and short stature and that has_material_basis_in homozygous mutation in the PUS7 gene on chromosome 7q22.
http://purl.obolibrary.org/obo/DOID_0081266	pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures	http://purl.obolibrary.org/obo/DOID_0090131	complex cortical dysplasia with other brain malformations		A cortical dysplasia with other brain malformation that is characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP2 gene on chromosome 10q26.
http://purl.obolibrary.org/obo/DOID_0081332	progeroid syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by the premature onset of age-related pathologies.
http://purl.obolibrary.org/obo/DOID_0060950	hypervalinemia and hyperleucine-isoleucinemia	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic characterized by highly elevated plasma valine and leucine concentrations that has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0060951	polycystic kidney disease 6	http://purl.obolibrary.org/obo/DOID_898	autosomal dominant polycystic kidney disease		An autosomal dominant polycystic kidney disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade that has_material_basis_in heterozygous mutation in the DNAJB11 gene on chromosome 3q27.
http://purl.obolibrary.org/obo/DOID_0060960	orofaciodigital syndrome XIX	http://purl.obolibrary.org/obo/DOID_4501	orofaciodigital syndrome		An orofaciodigital syndrome that is characterized by tongue nodules; dental anomalies including congenital absence or abnormal shape of incisors; narrow, high-arched or cleft palate; retrognathia; and digital anomalies that has_material_basis_in homozygous mutation in the SCNM1 gene on chromosome 1q21.
http://purl.obolibrary.org/obo/DOID_0060961	orofaciodigital syndrome XVIII	http://purl.obolibrary.org/obo/DOID_4501	orofaciodigital syndrome		An orofaciodigital syndrome that is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features that has_material_basis_in homozygous mutation in the IFT57 gene on chromosome 3q13.
http://purl.obolibrary.org/obo/DOID_0060962	orofaciodigital syndrome XX	http://purl.obolibrary.org/obo/DOID_4501	orofaciodigital syndrome		An orofaciodigital syndrome that is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones that has_material_basis_in homozygous or compound heterozygous mutation in the RAB34 gene on chromosome 17q11.
http://purl.obolibrary.org/obo/DOID_0060968	hypotrichosis 15	http://purl.obolibrary.org/obo/DOID_4535	hypotrichosis		A hypotrichosis that is characterized by sparse or absent hair on the scalp and/or body, and eyebrows and eyelashes may be sparse or absent as well that has_material_basis_in homozygous mutation in the C3ORF52 gene on chromosome 3q13.
http://purl.obolibrary.org/obo/DOID_0060970	Cornelia de Lange syndrome 6	http://purl.obolibrary.org/obo/DOID_11725	Cornelia de Lange syndrome		A Cornelia de Lange syndrome characterized by malformations affecting multiple systems that has_material_basis_in heterozygous mutation in the BRD4 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0070545	developmental and epileptic encephalopathy 116	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		A developmental and epileptic encephalopathy characterized by severe developmental delay, seizures, and white matter abnormalities but normal plasma and cerebrospinal fluid biochemistry that has_material_basis_in heterozygous mutation in the GLUL gene on chromosome 1q25.3.
http://purl.obolibrary.org/obo/DOID_0060973	WHIM syndrome 2	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		An immunodeficiency disease that is characterized by chronic neutropenia and myelokathexis, which is impaired neutrophil mobilization from the bone marrow and that has_material_basis_in homozygous mutation in the CXCR2 gene on chromosome 2q35.
http://purl.obolibrary.org/obo/DOID_0061170	autoinflammation, panniculitis, and dermatosis syndrome	http://purl.obolibrary.org/obo/DOID_0051000	autoinflammatory disease		An autoinflammatory disease characterized by neonatal or infantile onset of systemic inflammation, fever, panniculitis, aseptic skin lesions, leukocytosis, neutrophilia, and elevated inflammatory markers, including C-reactive protein, with no overt primary immunodeficiency that has_material_basis_in mutation in the OTULIN gene on chromosome 5p15, that encodes a deubiquitinase with linear linkage specificity.
http://purl.obolibrary.org/obo/DOID_0061153	monilethrix 3	http://purl.obolibrary.org/obo/DOID_0050472	monilethrix		A hair disease that is characterized by periodic narrowing ('beading') along the hair shaft visible on microscopy and that has_material_basis_in heterozygous mutation in the KRT83 gene on chromosome 12q13.
http://purl.obolibrary.org/obo/TRANS_0000018	placental transmission	http://purl.obolibrary.org/obo/TRANS_0000006	congenital transmission		Placental transmission is a congenital transmission process during which the pathogen is transmitted directly from mother to child across the placental barrier.
http://purl.obolibrary.org/obo/DOID_0060034	dropped head syndrome	http://purl.obolibrary.org/obo/DOID_0060564	spinal disease		A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles.
http://purl.obolibrary.org/obo/DOID_0080930	primary localized cutaneous amyloidosis 1	http://purl.obolibrary.org/obo/DOID_0050639	primary cutaneous amyloidosis		A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the gene encoding oncostatin M receptor-beta (OSMR) on chromosome 5p13.
http://purl.obolibrary.org/obo/SYMP_0020061	outlet dysfunction constipation	http://purl.obolibrary.org/obo/SYMP_0019180	constipation		A constipation that is characterized by difficulty passing bowel movements after they reach the rectum. One experiences difficulty evacuating the stool and often has to strain or press the fingers into the vagina or in front of or into the rectum to help remove the stool. Outlet dysfunction can be caused by inappropriate or abnormal muscle contraction of the pelvic floor (called pelvic floor dyssynergia or dyssynergic defecation) which can respond to biofeedback. It may also be due to a rectocele or other structural changes in the pelvic floor that will require medical or at times, surgical treatment.
http://purl.obolibrary.org/obo/SYMP_0020062	soft tissue necrosis	http://purl.obolibrary.org/obo/SYMP_0000891	musculoskeletal system symptom		A musculoskeletal system symptom that is characterized by necrosis (i.e. tissue death) of soft tissue, including muscle, fat, blood vessels, nerves, tendons, and tissues that surround the bones and joints.
http://purl.obolibrary.org/obo/DOID_0070405	hypomyelinating leukodystrophy 16	http://purl.obolibrary.org/obo/DOID_0060786	hypomyelinating leukodystrophy		A hypomyelinating leukodystrophy characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy that has_material_basis_in heterozygous mutation in the TMEM106B gene on chromosome 7p21.
http://purl.obolibrary.org/obo/DOID_0070465	autosomal recessive spinocerebellar ataxia with axonal neuropathy 3	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia characterized by onset of slowly progressive axonal peripheral neuropathy in the first decade of life, evident in distal muscle weakness and atrophy and distal sensory impairment, followed by cerebellar ataxia and atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the COA7 gene on chromosome 1p32.3.
http://purl.obolibrary.org/obo/DOID_0070468	Yoon-Bellen neurodevelopmental syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by onset in the first decade of highly variable neurodevelopmental phenotypes including global developmental delay, intellectual disability, seizures, hearing and visual problems, and ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the OGDHL gene on chromosome 10q11.23.
http://purl.obolibrary.org/obo/DOID_0070469	neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, dysmorphic facial features, and corpus callosum abnormalities that has_material_basis_in heterozygous mutation in the SUPT16H gene on chromosome 14q11.2.
http://purl.obolibrary.org/obo/DOID_0070471	early-onset epilepsy 2	http://purl.obolibrary.org/obo/DOID_1826	epilepsy		An epilepsy characterized by neonatal to childhood onset of generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11.2.
http://purl.obolibrary.org/obo/DOID_0070472	early-onset epilepsy 3	http://purl.obolibrary.org/obo/DOID_1826	epilepsy		An epilepsy characterized by infantile or childhood onset of various types of seizures with variable global developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in the ATP6V0C gene on chromosome 16p13.3.
http://purl.obolibrary.org/obo/DOID_0070517	retinal macular dystrophy 2	http://purl.obolibrary.org/obo/DOID_0070438	retinal macular dystrophy		A retinal macular dystrophy characterized by slowly progressive ''bull's eye'' maculopathy, mild visual impairment, and central scotomata that has_material_basis_in heterozygous mutation in the PROM1 gene on chromosome 4p15.32.
http://purl.obolibrary.org/obo/DOID_0081421	familial focal epilepsy with variable foci 1	http://purl.obolibrary.org/obo/DOID_0081420	familial focal epilepsy with variable foci		A familial focal epilepsy with variable foci that is characterized by focal seizures arising from different cortical regions in different family members and that has_material_basis_in heterozygous mutation in the DEPDC5 gene on chromosome 22q12.
http://purl.obolibrary.org/obo/DOID_0060976	polycystic liver disease 3	http://purl.obolibrary.org/obo/DOID_0050770	polycystic liver disease		A liver disease characterized by the development of multiple liver cysts that usually becomes apparent in adulthood that has_material_basis_in heterozygous mutation in the ALG8 gene on chromosome 11q14.
http://purl.obolibrary.org/obo/TRANS_0000015	biologic transmission	http://purl.obolibrary.org/obo/TRANS_0000005	vector-borne transmission		Biological transmission is an indirect vector-borne transmission process during which the pathogen is transported, from a reservoir, source or host to another host, within the vector and undergoes part of its lifecycle in the vector.
http://purl.obolibrary.org/obo/SYMP_0000846	chest hyperemia	http://purl.obolibrary.org/obo/SYMP_0000528	cardiovascular system symptom		Hyperemia of the chest is a cardiovascular system symptom consisting of an excess of blood in the tissues of the chest as from an increased flow of blood due to vasodilation.
http://purl.obolibrary.org/obo/SYMP_0000715	skin desquamation	http://purl.obolibrary.org/obo/SYMP_0020048	skin peeling		A skin and integumentary tissue symptom that is characterized by the peeling off of skin in the form of scales.
http://purl.obolibrary.org/obo/SYMP_0000424	claudication	http://purl.obolibrary.org/obo/SYMP_0000099	pain		A pain that is characterized by a leg pain in the calf, or thigh, which is caused by inadequate blood flow to the leg muscles and is brought on by leg exercise such as walking.
http://purl.obolibrary.org/obo/SYMP_0000595	febrile convulsion	http://purl.obolibrary.org/obo/SYMP_0000596	convulsion		A convulsion that is characterized by occurring in young children between six months and five years of age and which is triggered by fever.
http://purl.obolibrary.org/obo/SYMP_0000605	coma	http://purl.obolibrary.org/obo/SYMP_0000482	alteration of consciousness		An alteration of consciousness that is characterized by a deep state of prolonged unconsciousness in which a person cannot be awakened, fails to respond normally to painful stimuli, light, or sound, lacks a normal wake-sleep cycle and does not initiate voluntary actions.
http://purl.obolibrary.org/obo/SYMP_0019151	pulmonary edema	http://purl.obolibrary.org/obo/SYMP_0000514	respiratory system and chest symptom		A respiratory system and chest symptom that is characterized by an abnormal accumulation of fluid in the lungs.
http://purl.obolibrary.org/obo/SYMP_0019176	malaise	http://purl.obolibrary.org/obo/SYMP_0000410	neurological and physiological symptom		A neurological and physiological symptom that is characterized by an indefinite feeling of debility or lack of health, often indicative of or accompanying the onset of an illness.
http://purl.obolibrary.org/obo/SYMP_0000822	chronic enteritis	http://purl.obolibrary.org/obo/SYMP_0000039	enteritis		Chronic enteritis is a enteritis with slow progress, long duration, or frequent recurrence which can be due to Crohn's disease, giardiasis, tuberculosis, coeliac disease, or rarely due to Whipple's disease.
http://purl.obolibrary.org/obo/SYMP_0000361	progressive emaciation	http://purl.obolibrary.org/obo/SYMP_0000360	emaciation		An emaciation that is characterized by an increase in scope or severity with time.
http://purl.obolibrary.org/obo/SYMP_0000560	polydipsia	http://purl.obolibrary.org/obo/SYMP_0000473	nutrition, metabolism, and development symptom		A nutrition, metabolism, and development symptom that is characterized by an excessive or abnormal thirst.
http://purl.obolibrary.org/obo/TRANS_0000019	arthropod borne transmission	http://purl.obolibrary.org/obo/TRANS_0000005	vector-borne transmission		Arthropod borne transmission is a vector-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an animate intermediary arthropod vector to another host.
http://purl.obolibrary.org/obo/SYMP_0000569	oliguria	http://purl.obolibrary.org/obo/SYMP_0000486	urinary system symptom		A urinary system symptom that is characterized by the reduced excretion of urine.
http://purl.obolibrary.org/obo/SYMP_0000367	proteinuria	http://purl.obolibrary.org/obo/SYMP_0000486	urinary system symptom		A urinary system symptom characterized by the presence of excess protein in the urine.
http://purl.obolibrary.org/obo/DOID_0060911	karyomegalic interstitial nephritis	http://purl.obolibrary.org/obo/DOID_1063	interstitial nephritis		An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3.
http://purl.obolibrary.org/obo/DOID_0090100	ocular albinism with sensorineural deafness	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritance of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates.
http://purl.obolibrary.org/obo/DOID_0090101	lethal congenital glycogen storage disease of heart	http://purl.obolibrary.org/obo/DOID_2747	glycogen storage disease		A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36.
http://purl.obolibrary.org/obo/DOID_0090102	autosomal dominant isolated macrothrombocytopenia 1	http://purl.obolibrary.org/obo/DOID_1588	thrombocytopenia		A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3.
http://purl.obolibrary.org/obo/DOID_0090103	Huntington's disease-like 1	http://purl.obolibrary.org/obo/DOID_649	prion disease		A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13.
http://purl.obolibrary.org/obo/DOID_0090104	Huntington's disease-like 2	http://purl.obolibrary.org/obo/DOID_1289	neurodegenerative disease		A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24.
http://purl.obolibrary.org/obo/DOID_0090105	autosomal recessive hypercholesterolemia	http://purl.obolibrary.org/obo/DOID_13810	familial hypercholesterolemia		A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0090106	BH4-deficient hyperphenylalaninemia A	http://purl.obolibrary.org/obo/DOID_0081132	tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia		A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1.
http://purl.obolibrary.org/obo/DOID_0090107	autosomal dominant hypocalcemia 1	http://purl.obolibrary.org/obo/DOID_0090109	autosomal dominant hypocalcemia		An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21.
http://purl.obolibrary.org/obo/DOID_0090108	autosomal dominant hypocalcemia 2	http://purl.obolibrary.org/obo/DOID_0090109	autosomal dominant hypocalcemia		An autosomal dominant hypocalcemia that has_material_basis_in heterozygous mutation in the G protein subunit alpha 11 gene (GNA11) on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0090109	autosomal dominant hypocalcemia	http://purl.obolibrary.org/obo/DOID_896	metal metabolism disorder		A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone.
http://purl.obolibrary.org/obo/DOID_0090110	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	http://purl.obolibrary.org/obo/DOID_417	autoimmune disease		An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has_material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11.
http://purl.obolibrary.org/obo/DOID_0090111	PCWH syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13.
http://purl.obolibrary.org/obo/DOID_0090112	Nasu-Hakola disease	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0090113	RIDDLE syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has_material_basis_in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29.
http://purl.obolibrary.org/obo/DOID_0090114	Sorsby's fundus dystrophy	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TIMP metallopeptidase inhibitor 3 (TIMP3) gene on chromosome 22q12.
http://purl.obolibrary.org/obo/DOID_0090115	spinocerebellar ataxia with axonal neuropathy 1	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11.
http://purl.obolibrary.org/obo/DOID_0090116	spondylocarpotarsal synostosis syndrome	http://purl.obolibrary.org/obo/DOID_0080006	bone development disease		A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3.
http://purl.obolibrary.org/obo/DOID_0090117	thiamine-responsive megaloblastic anemia syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness where the anemia and sometimes diabetes is repsonsive to high doses of thiamine, and that has_material_basis_in homozygous mutation in the solute carrier family 19 member 2 (SLC19A2) gene on chromosome 1q24.
http://purl.obolibrary.org/obo/DOID_0090118	congenital amegakaryocytic thrombocytopenia	http://purl.obolibrary.org/obo/DOID_1588	thrombocytopenia		A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers.
http://purl.obolibrary.org/obo/DOID_0090119	ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27.
http://purl.obolibrary.org/obo/DOID_0090120	hereditary neutrophilia	http://purl.obolibrary.org/obo/DOID_9500	leukocyte disease		A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has_material_basis_in heterozygous mutation in the colony stimulating factor 3 receptor (CSF3R) gene on chromosome 1p34.
http://purl.obolibrary.org/obo/DOID_0090122	aromatase excess syndrome	http://purl.obolibrary.org/obo/DOID_15	reproductive system disease		A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene.
http://purl.obolibrary.org/obo/DOID_0090123	aromatic L-amino acid decarboxylase deficiency	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12.
http://purl.obolibrary.org/obo/DOID_0090124	neurogenic-type arthrogryposis multiplex congenita-2	http://purl.obolibrary.org/obo/DOID_0080954	arthrogryposis multiplex congenita		An arthrogryposis multiplex congenita that is characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor neuron depletion, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the endoplasmic reticulum-golgi intermediate compartment protein 1 gene (ERGIC1) on chromosome region 5q35.
http://purl.obolibrary.org/obo/DOID_0090125	brain small vessel disease 1	http://purl.obolibrary.org/obo/DOID_0112313	brain small vessel disease		A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34.
http://purl.obolibrary.org/obo/DOID_0090126	branched-chain keto acid dehydrogenase kinase deficiency	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11.
http://purl.obolibrary.org/obo/DOID_0090127	camptodactyly-arthropathy-coxa vara-pericarditis syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31.
http://purl.obolibrary.org/obo/DOID_0090128	Carvajal syndrome	http://purl.obolibrary.org/obo/DOID_0080551	Naxos disease		A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24.
http://purl.obolibrary.org/obo/DOID_0090129	carnitine palmitoyltransferase I deficiency	http://purl.obolibrary.org/obo/DOID_3146	lipid metabolism disorder		A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0090130	cortical dysplasia-focal epilepsy syndrome	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36.
http://purl.obolibrary.org/obo/DOID_0090131	complex cortical dysplasia with other brain malformations	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations.
http://purl.obolibrary.org/obo/DOID_0090132	complex cortical dysplasia with other brain malformations 7	http://purl.obolibrary.org/obo/DOID_0090131	complex cortical dysplasia with other brain malformations		A complex cortical dysplasia with other brain malformations that is characterized by abnormalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25.
http://purl.obolibrary.org/obo/DOID_0090133	complex cortical dysplasia with other brain malformations 2	http://purl.obolibrary.org/obo/DOID_0090131	complex cortical dysplasia with other brain malformations		A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 5C (KIF5C) gene on chromosome 2q23.
http://purl.obolibrary.org/obo/DOID_0090134	complex cortical dysplasia with other brain malformations 3	http://purl.obolibrary.org/obo/DOID_0090131	complex cortical dysplasia with other brain malformations		A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 2A (KIF2A) gene on chromosome 5q12.
http://purl.obolibrary.org/obo/DOID_0090135	complex cortical dysplasia with other brain malformations 5	http://purl.obolibrary.org/obo/DOID_0090131	complex cortical dysplasia with other brain malformations		A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2A class IIa (TUBB2A) gene on chromosome 6p25.
http://purl.obolibrary.org/obo/DOID_0090136	complex cortical dysplasia with other brain malformations 6	http://purl.obolibrary.org/obo/DOID_0090131	complex cortical dysplasia with other brain malformations		A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta class I (TUBB) gene on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0090137	complex cortical dysplasia with other brain malformations 1	http://purl.obolibrary.org/obo/DOID_0090131	complex cortical dysplasia with other brain malformations		A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3.
http://purl.obolibrary.org/obo/DOID_0090138	complex cortical dysplasia with other brain malformations 4	http://purl.obolibrary.org/obo/DOID_0090131	complex cortical dysplasia with other brain malformations		A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin gamma 1 gene on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0090139	cortisone reductase deficiency	http://purl.obolibrary.org/obo/DOID_28	endocrine system disease		An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism.
http://purl.obolibrary.org/obo/DOID_0090140	cortisone reductase deficiency 2	http://purl.obolibrary.org/obo/DOID_0090139	cortisone reductase deficiency		A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32.
http://purl.obolibrary.org/obo/DOID_0090141	cortisone reductase deficiency 1	http://purl.obolibrary.org/obo/DOID_0090139	cortisone reductase deficiency		A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0090142	cystathioninuria	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31.
http://purl.obolibrary.org/obo/DOID_0090143	brachyolmia-amelogenesis imperfecta syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0090144	Donnai-Barrow syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31.
http://purl.obolibrary.org/obo/DOID_0090145	dopamine beta-hydroxylase deficiency	http://purl.obolibrary.org/obo/DOID_863	nervous system disease		An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0070005	Seckel syndrome 9	http://purl.obolibrary.org/obo/DOID_0050569	Seckel syndrome		A Seckel syndrome that has_material_basis_in homozygous mutation in the TRAIP gene on chromosome 3p21.
http://purl.obolibrary.org/obo/DOID_0070006	Seckel syndrome 6	http://purl.obolibrary.org/obo/DOID_0050569	Seckel syndrome		A Seckel syndrome that has_material_basis_in homozygous mutation in the CEP63 gene on chromosome 3q22.
http://purl.obolibrary.org/obo/DOID_0070007	Seckel syndrome 1	http://purl.obolibrary.org/obo/DOID_0050569	Seckel syndrome		A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23.
http://purl.obolibrary.org/obo/DOID_0070008	Seckel syndrome 10	http://purl.obolibrary.org/obo/DOID_0050569	Seckel syndrome		A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NSMCE2 gene on chromosome 8q24.
http://purl.obolibrary.org/obo/DOID_0070009	Seckel syndrome 8	http://purl.obolibrary.org/obo/DOID_0050569	Seckel syndrome		A Seckel syndrome that has_material_basis_in homozygous mutation in the DNA2 gene on chromosome 10q21.
http://purl.obolibrary.org/obo/DOID_0070010	Seckel syndrome 4	http://purl.obolibrary.org/obo/DOID_0050569	Seckel syndrome		A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12.
http://purl.obolibrary.org/obo/DOID_0070011	Seckel syndrome 7	http://purl.obolibrary.org/obo/DOID_0050569	Seckel syndrome		A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NIN gene on chromosome 14q22.
http://purl.obolibrary.org/obo/DOID_0070012	Seckel syndrome 5	http://purl.obolibrary.org/obo/DOID_0050569	Seckel syndrome		A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21.
http://purl.obolibrary.org/obo/DOID_0070013	Seckel syndrome 2	http://purl.obolibrary.org/obo/DOID_0050569	Seckel syndrome		A Seckel syndrome characterized by growth retardation, microcephaly with impaired intellectual development, and a characteristic facial appearance that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11.
http://purl.obolibrary.org/obo/DOID_0070014	autosomal dominant dyskeratosis congenita 1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2.
http://purl.obolibrary.org/obo/DOID_0070015	autosomal recessive dyskeratosis congenita 1	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA3 gene on chromosome 15q14.
http://purl.obolibrary.org/obo/DOID_0070016	autosomal dominant dyskeratosis congenita 2	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERT gene on chromosome 5p15.33.
http://purl.obolibrary.org/obo/DOID_0070017	autosomal recessive dyskeratosis congenita 2	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA2 gene on chromosome 5q35.3.
http://purl.obolibrary.org/obo/DOID_0070018	autosomal dominant dyskeratosis congenita 3	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TINF2 gene on chromosome 14q12.
http://purl.obolibrary.org/obo/DOID_0070019	autosomal recessive dyskeratosis congenita 3	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the WRAP53 gene on chromosome 17p13.1.
http://purl.obolibrary.org/obo/DOID_0070020	autosomal dominant dyskeratosis congenita 4	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the RTEL1 gene on chromosome 20q13.33.
http://purl.obolibrary.org/obo/DOID_0070021	autosomal recessive dyskeratosis congenita 4	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the TERT gene on chromosome 5p15.33.
http://purl.obolibrary.org/obo/DOID_0070022	autosomal recessive dyskeratosis congenita 5	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33.
http://purl.obolibrary.org/obo/DOID_0070023	autosomal dominant dyskeratosis congenita 6	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of ACD on chromosome 16q22.1.
http://purl.obolibrary.org/obo/DOID_0070024	autosomal recessive dyskeratosis congenita 6	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the PARN gene on chromosome 16p13.12.
http://purl.obolibrary.org/obo/DOID_0070025	X-linked dyskeratosis congenita	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0070026	Revesz syndrome	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12.
http://purl.obolibrary.org/obo/DOID_0070027	CST3-related cerebral amyloid angiopathy	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of the CST3 gene on chromosome 20p11.21.
http://purl.obolibrary.org/obo/DOID_0070028	APP-related cerebral amyloid angiopathy	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3.
http://purl.obolibrary.org/obo/DOID_0070029	ITM2B-related cerebral amyloid angiopathy 1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in heterozygous mutation in the ITM2B gene on chromosome 13q14.
http://purl.obolibrary.org/obo/DOID_0070030	ITM2B-related cerebral amyloid angiopathy 2	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2.
http://purl.obolibrary.org/obo/DOID_0070031	autosomal dominant intellectual developmental disorder 1	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the MBD5 gene on chromosome 2q23.1.
http://purl.obolibrary.org/obo/DOID_0070032	autosomal dominant intellectual developmental disorder 2	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DOCK8 gene on chromosome 9p24.
http://purl.obolibrary.org/obo/DOID_0070033	autosomal dominant intellectual developmental disorder 3	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CDH15 gene on chromosome 16q24.3.
http://purl.obolibrary.org/obo/DOID_0070034	autosomal dominant intellectual developmental disorder 4	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIRREL3 gene on chromosome 11q24.2.
http://purl.obolibrary.org/obo/DOID_0070035	autosomal dominant intellectual developmental disorder 5	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32.
http://purl.obolibrary.org/obo/DOID_0070036	autosomal dominant intellectual developmental disorder 6	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1.
http://purl.obolibrary.org/obo/DOID_0070037	autosomal dominant intellectual developmental disorder 7	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_material_basis_in an autosomal dominant mutation of the DYRK1A gene on chromosome 21q22.13.
http://purl.obolibrary.org/obo/DOID_0070038	autosomal dominant intellectual developmental disorder 8	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN1 gene on chromosome 9q34.3.
http://purl.obolibrary.org/obo/DOID_0070039	NESCAV syndrome	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3.
http://purl.obolibrary.org/obo/DOID_0070040	autosomal dominant intellectual developmental disorder 10	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CACNG2 gene on chromosome 22q12.3.
http://purl.obolibrary.org/obo/DOID_0070041	autosomal dominant intellectual developmental disorder 11	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EPB41L1 gene on chromosome 20q11.23.
http://purl.obolibrary.org/obo/DOID_0070042	Coffin-Siris syndrome 1	http://purl.obolibrary.org/obo/DOID_1925	Coffin-Siris syndrome		A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3.
http://purl.obolibrary.org/obo/DOID_0070043	autosomal dominant intellectual developmental disorder 13	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DYNC1H1 gene on chromosome 14q32.31.
http://purl.obolibrary.org/obo/DOID_0070044	Coffin-Siris syndrome 2	http://purl.obolibrary.org/obo/DOID_1925	Coffin-Siris syndrome		A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11.
http://purl.obolibrary.org/obo/DOID_0070045	Coffin-Siris syndrome 3	http://purl.obolibrary.org/obo/DOID_1925	Coffin-Siris syndrome		A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23.
http://purl.obolibrary.org/obo/DOID_0070046	Coffin-Siris syndrome 4	http://purl.obolibrary.org/obo/DOID_1925	Coffin-Siris syndrome		A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2.
http://purl.obolibrary.org/obo/DOID_0070047	Schuurs-Hoeijmakers Syndrome	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2.
http://purl.obolibrary.org/obo/DOID_0070048	GAND syndrome	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that has_material_basis_in an autosomal dominant mutation of the GATAD2B gene on chromosome 1q21.3.
http://purl.obolibrary.org/obo/DOID_0070049	autosomal dominant intellectual developmental disorder 19	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTNNB1 gene on chromosome 3p22.1.
http://purl.obolibrary.org/obo/DOID_0070050	neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities and that has_material_basis_in an autosomal dominant mutation of the MEF2C gene on chromosome 5q14.3.
http://purl.obolibrary.org/obo/DOID_0070051	autosomal dominant intellectual developmental disorder 21	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTCF gene on chromosome 16q22.1.
http://purl.obolibrary.org/obo/DOID_0070052	autosomal dominant intellectual developmental disorder 22	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZBTB18 gene on chromosome 1q44.
http://purl.obolibrary.org/obo/DOID_0070053	autosomal dominant intellectual developmental disorder 23	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETD5 gene on chromosome 3p25.3.
http://purl.obolibrary.org/obo/DOID_0070054	Vulto-van Silfout-de Vries syndrome	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities that has_material_basis_in an autosomal dominant mutation of the DEAF1 gene on chromosome 11p15.5.
http://purl.obolibrary.org/obo/DOID_0070055	Xia-Gibbs Syndrome	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AHDC1 gene on chromosome 1p36.1-p35.3.
http://purl.obolibrary.org/obo/DOID_0070056	autosomal dominant intellectual developmental disorder 26	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AUTS2 gene on chromosome 7q11.22.
http://purl.obolibrary.org/obo/DOID_0070057	Coffin-Siris syndrome 9	http://purl.obolibrary.org/obo/DOID_1925	Coffin-Siris syndrome		An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on chromosome 2p25.2.
http://purl.obolibrary.org/obo/DOID_0070058	Helsmoortel-Van Der Aa Syndrome	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13.
http://purl.obolibrary.org/obo/DOID_0070059	autosomal dominant intellectual developmental disorder 29	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETBP1 gene on chromosome 18q12.3.
http://purl.obolibrary.org/obo/DOID_0070060	autosomal dominant intellectual developmental disorder 30	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZMYND11 gene on chromosome 10p15.3.
http://purl.obolibrary.org/obo/DOID_0070061	autosomal dominant intellectual developmental disorder 31	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PURA gene on chromosome 5q31.3.
http://purl.obolibrary.org/obo/DOID_0070062	Arboleda-Tham syndrome	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21.
http://purl.obolibrary.org/obo/DOID_0070063	autosomal dominant intellectual developmental disorder 33	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DPP6 gene on chromosome 7q36.2.
http://purl.obolibrary.org/obo/DOID_0070064	autosomal dominant intellectual developmental disorder 34	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CERT1 gene on chromosome 5q13.3.
http://purl.obolibrary.org/obo/DOID_0070065	autosomal dominant intellectual developmental disorder 35	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1.
http://purl.obolibrary.org/obo/DOID_0070066	autosomal dominant intellectual developmental disorder 36	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R1A gene on chromosome 19q13.41.
http://purl.obolibrary.org/obo/DOID_0070067	White-Sutton syndrome	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the POGZ gene on chromosome 1q21.3.
http://purl.obolibrary.org/obo/DOID_0070068	autosomal dominant intellectual developmental disorder 38	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EEF1A2 gene on chromosome 20q13.33.
http://purl.obolibrary.org/obo/DOID_0070069	autosomal dominant intellectual developmental disorder 39	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant heterozygous mutation in the MYT1L gene on chromosome 2p25.3.
http://purl.obolibrary.org/obo/DOID_0070070	autosomal dominant intellectual developmental disorder 40	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34.
http://purl.obolibrary.org/obo/DOID_0070071	autosomal dominant intellectual developmental disorder 41	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TBL1XR1 gene on chromosome 3q26.32.
http://purl.obolibrary.org/obo/DOID_0070072	autosomal dominant intellectual developmental disorder 42	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GNB1 gene on chromosome 1p36.33.
http://purl.obolibrary.org/obo/DOID_0070073	autosomal dominant intellectual developmental disorder 43	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development with impaired intellectual development and poor speech, hypotonia, and nonspecific dysmorphic features that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2.
http://purl.obolibrary.org/obo/DOID_0070074	autosomal dominant intellectual developmental disorder 44	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TRIO gene on chromosome 5p15.2.
http://purl.obolibrary.org/obo/DOID_0070077	schizophrenia 1	http://purl.obolibrary.org/obo/DOID_5419	schizophrenia		A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD1 gene on chromosome 5q23-q35.
http://purl.obolibrary.org/obo/DOID_0070078	schizophrenia 2	http://purl.obolibrary.org/obo/DOID_5419	schizophrenia		A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD2 gene on chromosome 11q14-q21.
http://purl.obolibrary.org/obo/DOID_0070079	schizophrenia 3	http://purl.obolibrary.org/obo/DOID_5419	schizophrenia		A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD3 gene on chromosome 6p23.
http://purl.obolibrary.org/obo/DOID_0070080	schizophrenia 4	http://purl.obolibrary.org/obo/DOID_5419	schizophrenia		A schizophrenia that has_material_basis_in an autosomal dominant mutation of the PRODH gene on chromosome 22q11.21.
http://purl.obolibrary.org/obo/DOID_0070081	schizophrenia 5	http://purl.obolibrary.org/obo/DOID_5419	schizophrenia		A schizophrenia that has_material_basis_in a mutation on chromosome 6q13-q26.
http://purl.obolibrary.org/obo/DOID_0070082	schizophrenia 6	http://purl.obolibrary.org/obo/DOID_5419	schizophrenia		A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD6 gene on chromosome 8p21.
http://purl.obolibrary.org/obo/DOID_0070083	schizophrenia 7	http://purl.obolibrary.org/obo/DOID_5419	schizophrenia		A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD7 gene on chromosome 13q32.
http://purl.obolibrary.org/obo/DOID_0070084	schizophrenia 8	http://purl.obolibrary.org/obo/DOID_5419	schizophrenia		A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD8 gene on chromosome 18p.
http://purl.obolibrary.org/obo/DOID_0070085	schizophrenia 9	http://purl.obolibrary.org/obo/DOID_5419	schizophrenia		A schizophrenia that has_material_basis_in a mutation of the DISC1 gene on chromosome 1q42.2.
http://purl.obolibrary.org/obo/DOID_0070086	schizophrenia 10	http://purl.obolibrary.org/obo/DOID_5419	schizophrenia		A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD10 gene on chromosome 15q15.
http://purl.obolibrary.org/obo/DOID_0070087	schizophrenia 11	http://purl.obolibrary.org/obo/DOID_5419	schizophrenia		A schizophrenia that has_material_basis_in a mutation on chromosome 10q22.3.
http://purl.obolibrary.org/obo/DOID_0070088	schizophrenia 12	http://purl.obolibrary.org/obo/DOID_5419	schizophrenia		A schizophrenia that has_material_basis_in a mutation on chromosome 1p36.2.
http://purl.obolibrary.org/obo/DOID_0070089	schizophrenia 13	http://purl.obolibrary.org/obo/DOID_5419	schizophrenia		A schizophrenia that has_material_basis_in a mutation on chromosome 15q13.
http://purl.obolibrary.org/obo/DOID_0070090	schizophrenia 14	http://purl.obolibrary.org/obo/DOID_5419	schizophrenia		A schizophrenia that has_material_basis_in a mutation on chromosome 2q32.1.
http://purl.obolibrary.org/obo/DOID_0070091	schizophrenia 15	http://purl.obolibrary.org/obo/DOID_5419	schizophrenia		A schizophrenia that has_material_basis_in a mutation of the SHANK3 gene on chromosome 22q13.33.
http://purl.obolibrary.org/obo/DOID_0070092	schizophrenia 16	http://purl.obolibrary.org/obo/DOID_5419	schizophrenia		A schizophrenia that has_material_basis_in a mutation on chromosome 7q36.3.
http://purl.obolibrary.org/obo/DOID_0070093	schizophrenia 18	http://purl.obolibrary.org/obo/DOID_5419	schizophrenia		A schizophrenia that has_material_basis_in a mutation of the SLC1A1 gene on chromosome 9p24.2.
http://purl.obolibrary.org/obo/DOID_0070094	oculocutaneous albinism type IA	http://purl.obolibrary.org/obo/DOID_0050632	oculocutaneous albinism		An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity.
http://purl.obolibrary.org/obo/DOID_0070095	oculocutaneous albinism type IB	http://purl.obolibrary.org/obo/DOID_0050632	oculocutaneous albinism		An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity.
http://purl.obolibrary.org/obo/DOID_0070096	oculocutaneous albinism type II	http://purl.obolibrary.org/obo/DOID_0050632	oculocutaneous albinism		An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA2 gene on chromosome 15q12-q13.
http://purl.obolibrary.org/obo/DOID_0070097	oculocutaneous albinism type III	http://purl.obolibrary.org/obo/DOID_0050632	oculocutaneous albinism		An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the TYRP1 gene on chromosome 9p23.
http://purl.obolibrary.org/obo/DOID_0070098	oculocutaneous albinism type IV	http://purl.obolibrary.org/obo/DOID_0050632	oculocutaneous albinism		An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the SLC45A2 gene on chromosome 5p13.2.
http://purl.obolibrary.org/obo/DOID_0070099	oculocutaneous albinism type V	http://purl.obolibrary.org/obo/DOID_0050632	oculocutaneous albinism		An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA5 gene on chromosome 4q24.
http://purl.obolibrary.org/obo/DOID_0070100	oculocutaneous albinism type VII	http://purl.obolibrary.org/obo/DOID_0050632	oculocutaneous albinism		An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of C10orf11 on chromosome 10q22.2-q22.3.
http://purl.obolibrary.org/obo/DOID_0070111	Niemann-Pick disease type A	http://purl.obolibrary.org/obo/DOID_14504	Niemann-Pick disease		A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4.
http://purl.obolibrary.org/obo/DOID_0070112	Niemann-Pick disease type B	http://purl.obolibrary.org/obo/DOID_14504	Niemann-Pick disease		A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4.
http://purl.obolibrary.org/obo/DOID_0070113	Niemann-Pick disease type C1	http://purl.obolibrary.org/obo/DOID_14504	Niemann-Pick disease		A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2.
http://purl.obolibrary.org/obo/DOID_0070114	Niemann-Pick disease type C2	http://purl.obolibrary.org/obo/DOID_14504	Niemann-Pick disease		A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3.
http://purl.obolibrary.org/obo/DOID_0070115	Meckel syndrome 1	http://purl.obolibrary.org/obo/DOID_0050778	Meckel syndrome		A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the MKS1 gene on chromosome 17q22.
http://purl.obolibrary.org/obo/DOID_0070116	Meckel syndrome 2	http://purl.obolibrary.org/obo/DOID_0050778	Meckel syndrome		A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM216 gene on chromosome 11q12.2.
http://purl.obolibrary.org/obo/DOID_0070117	Meckel syndrome 3	http://purl.obolibrary.org/obo/DOID_0050778	Meckel syndrome		A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM67 gene on chromosome 8q22.1.
http://purl.obolibrary.org/obo/DOID_0070118	Meckel syndrome 4	http://purl.obolibrary.org/obo/DOID_0050778	Meckel syndrome		A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32.
http://purl.obolibrary.org/obo/DOID_0070119	Meckel syndrome 5	http://purl.obolibrary.org/obo/DOID_0050778	Meckel syndrome		A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the RPGRIP1L gene on chromosome 16q12.2.
http://purl.obolibrary.org/obo/DOID_0070120	Meckel syndrome 6	http://purl.obolibrary.org/obo/DOID_0050778	Meckel syndrome		A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CC2D2A gene on chromosome 4p15.32.
http://purl.obolibrary.org/obo/DOID_0070121	Meckel syndrome 7	http://purl.obolibrary.org/obo/DOID_0050778	Meckel syndrome		A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the NPHP3 gene on chromosome 3q22.1.
http://purl.obolibrary.org/obo/DOID_0070122	Meckel syndrome 8	http://purl.obolibrary.org/obo/DOID_0050778	Meckel syndrome		A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TCTN2 gene on chromosome 12q24.31.
http://purl.obolibrary.org/obo/DOID_0070123	congenital nongoitrous hypothyroidism 4	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13.
http://purl.obolibrary.org/obo/DOID_0070124	congenital nongoitrous hypothyroidism 2	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13.
http://purl.obolibrary.org/obo/DOID_0070125	congenital nongoitrous hypothyroidism 5	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35.
http://purl.obolibrary.org/obo/DOID_0070126	congenital nongoitrous hypothyroidism 1	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital hypothyroidism that has_material_basis_in mutation in the TSHR gene on chromosome 14q31.
http://purl.obolibrary.org/obo/DOID_0070127	congenital nongoitrous hypothyroidism 3	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in heterozygous mutation in a thyroid-specific TTTG(4) intergenic noncoding short tandem repeat (STR) on chromosome 15q25.1.
http://purl.obolibrary.org/obo/DOID_0070128	congenital nongoitrous hypothyroidism 6	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the THRA gene on chromosome 17q21.1.
http://purl.obolibrary.org/obo/DOID_0070129	autosomal recessive cutis laxa type IID	http://purl.obolibrary.org/obo/DOID_0070141	autosomal recessive cutis laxa type II classic type		An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13.
http://purl.obolibrary.org/obo/DOID_0070130	autosomal dominant cutis laxa 1	http://purl.obolibrary.org/obo/DOID_0070142	autosomal dominant cutis laxa		An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutations in the ELN gene on chromosome 7q11.
http://purl.obolibrary.org/obo/DOID_0070131	autosomal dominant cutis laxa 3	http://purl.obolibrary.org/obo/DOID_0070142	autosomal dominant cutis laxa		An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.
http://purl.obolibrary.org/obo/DOID_0070132	autosomal recessive cutis laxa type IIIA	http://purl.obolibrary.org/obo/DOID_0070143	autosomal recessive cutis laxa type III		A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24.
http://purl.obolibrary.org/obo/DOID_0070133	autosomal recessive cutis laxa type IB	http://purl.obolibrary.org/obo/DOID_0070144	autosomal recessive cutis laxa type I		An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0070134	autosomal recessive cutis laxa type IIA	http://purl.obolibrary.org/obo/DOID_0070141	autosomal recessive cutis laxa type II classic type		An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.
http://purl.obolibrary.org/obo/DOID_0070135	autosomal recessive cutis laxa type IA	http://purl.obolibrary.org/obo/DOID_0070144	autosomal recessive cutis laxa type I		An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.
http://purl.obolibrary.org/obo/DOID_0070136	autosomal dominant cutis laxa 2	http://purl.obolibrary.org/obo/DOID_0070142	autosomal dominant cutis laxa		An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutation in the FBLN5 gene on chromosome 14q32.
http://purl.obolibrary.org/obo/DOID_0070137	autosomal recessive cutis laxa type IIB	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3.
http://purl.obolibrary.org/obo/DOID_0070138	autosomal recessive cutis laxa type IIIB	http://purl.obolibrary.org/obo/DOID_0070143	autosomal recessive cutis laxa type III		An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.
http://purl.obolibrary.org/obo/DOID_0070139	autosomal recessive cutis laxa type IC	http://purl.obolibrary.org/obo/DOID_0070144	autosomal recessive cutis laxa type I		A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0070140	autosomal recessive cutis laxa type IIC	http://purl.obolibrary.org/obo/DOID_0070141	autosomal recessive cutis laxa type II classic type		An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.
http://purl.obolibrary.org/obo/DOID_0070141	autosomal recessive cutis laxa type II classic type	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia.
http://purl.obolibrary.org/obo/DOID_0070142	autosomal dominant cutis laxa	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A cutis laxa characterized by autosomal dominant inheritance of skin that is loose, hanging, wrinkled and lacking in elasticity.
http://purl.obolibrary.org/obo/DOID_0070143	autosomal recessive cutis laxa type III	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract.
http://purl.obolibrary.org/obo/DOID_0070144	autosomal recessive cutis laxa type I	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particularly in the lungs, vasculature, and gastrointestinal and genitourinary systems.
http://purl.obolibrary.org/obo/DOID_0070145	hereditary sensory and autonomic neuropathy type 5	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A hereditary sensory and autonomic neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13.
http://purl.obolibrary.org/obo/DOID_0070146	congenital insensitivity to pain with anhidrosis	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A hereditary sensory and autonomic neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23.
http://purl.obolibrary.org/obo/DOID_0070147	hereditary sensory neuropathy type 2C	http://purl.obolibrary.org/obo/DOID_0070161	hereditary sensory and autonomic neuropathy type 2		A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37.
http://purl.obolibrary.org/obo/DOID_0070148	cerebellar ataxia, neuropathy, and vestibular areflexia syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by adult onset of features ranging from isolated sensory peripheral neuropathy to slowly progressive cerebellar ataxia, neuropathy, and vestibular areflexia that has_material_basis_in homozygous or compound heterozygous pentanucleotide repeat expansion or truncation mutations in the RFC1 gene on chromosome 4p14. Additional associated features include cough and gastroesophageal reflux.
http://purl.obolibrary.org/obo/DOID_0070149	hereditary sensory and autonomic neuropathy type 7	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A hereditary sensory and autonomic neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22.
http://purl.obolibrary.org/obo/DOID_0070150	hereditary sensory and autonomic neuropathy type 2B	http://purl.obolibrary.org/obo/DOID_0070161	hereditary sensory and autonomic neuropathy type 2		A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the RETREG1 gene on chromosome 5p15.
http://purl.obolibrary.org/obo/DOID_0070151	hereditary sensory and autonomic neuropathy type 6	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A hereditary sensory and autonomic neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous or compound heterozygous in the DST gene on chromosome 6p12.
http://purl.obolibrary.org/obo/DOID_0070152	hereditary sensory and autonomic neuropathy type 1A	http://purl.obolibrary.org/obo/DOID_0070162	hereditary sensory and autonomic neuropathy type 1		A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22.
http://purl.obolibrary.org/obo/DOID_0070153	hereditary sensory and autonomic neuropathy type 8	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A hereditary sensory and autonomic neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has_material_basis_in homozygous mutation in the PRDM12 gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0070154	hereditary sensory neuropathy type 1F	http://purl.obolibrary.org/obo/DOID_0070162	hereditary sensory and autonomic neuropathy type 1		A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment that appears during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0070155	hereditary sensory and autonomic neuropathy type 2A	http://purl.obolibrary.org/obo/DOID_0070161	hereditary sensory and autonomic neuropathy type 2		A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in homozygous or compound heterozygous mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13.
http://purl.obolibrary.org/obo/DOID_0070156	hereditary sensory neuropathy type 1D	http://purl.obolibrary.org/obo/DOID_0070162	hereditary sensory and autonomic neuropathy type 1		A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement that has_material_basis_in heterozygous mutation in the ATL1 gene on chromosome 14q.
http://purl.obolibrary.org/obo/DOID_0070157	hereditary sensory and autonomic neuropathy type 1C	http://purl.obolibrary.org/obo/DOID_0070162	hereditary sensory and autonomic neuropathy type 1		A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24.
http://purl.obolibrary.org/obo/DOID_0070158	hereditary sensory neuropathy type 1E	http://purl.obolibrary.org/obo/DOID_0070162	hereditary sensory and autonomic neuropathy type 1		A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the DNMT1 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0070159	X-linked hereditary sensory neuropathy	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A hereditary sensory and autonomic neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life without autonomic dysfunction.
http://purl.obolibrary.org/obo/DOID_0070160	atypical hereditary sensory neuropathy	http://purl.obolibrary.org/obo/DOID_0050548	hereditary sensory and autonomic neuropathy		A hereditary sensory and autonomic neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities.
http://purl.obolibrary.org/obo/DOID_0070161	hereditary sensory and autonomic neuropathy type 2	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A hereditary sensory and autonomic neuropathy characterized by progressive, primarily distal reduced sensation to pain, temperature, and touch with congenital to juvenile onset, autosomal recessive inheritance, and variable, limited autonomic and muscular dysfunction. Loss of sensation commonly results in Charcot joints, unnoticed lacerations, acral mutilations, and osteomyelitis.
http://purl.obolibrary.org/obo/DOID_0070162	hereditary sensory and autonomic neuropathy type 1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A hereditary sensory and autonomic neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance.
http://purl.obolibrary.org/obo/DOID_0080202	adenoid cystic carcinoma	http://purl.obolibrary.org/obo/DOID_8858	tonsil cancer		An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells.
http://purl.obolibrary.org/obo/DOID_0080204	renal hypoplasia	http://purl.obolibrary.org/obo/DOID_557	kidney disease		A kidney disease that is characterized by abnormally small kidneys with normal morphology and reduced number of nephrons.
http://purl.obolibrary.org/obo/DOID_0080205	congenital anomalies of kidney and urinary tract	http://purl.obolibrary.org/obo/DOID_557	kidney disease		A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux.
http://purl.obolibrary.org/obo/DOID_0080206	congenital anomalies of the kidney and urinary tract 1	http://purl.obolibrary.org/obo/DOID_0080205	congenital anomalies of kidney and urinary tract		A congenital anomalies of the kidney and urinary tract that has_material_basis_in heterozygous mutation in the DSTYK gene on chromosome 1q32.
http://purl.obolibrary.org/obo/DOID_0080207	congenital anomalies of the kidney and urinary tract 2	http://purl.obolibrary.org/obo/DOID_0080205	congenital anomalies of kidney and urinary tract		A congenital anomalies of the kidney and urinary tract that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14.
http://purl.obolibrary.org/obo/DOID_0080208	metabolic dysfunction-associated steatotic liver disease	http://purl.obolibrary.org/obo/DOID_9452	steatotic liver disease		A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.
http://purl.obolibrary.org/obo/DOID_0111139	mitochondrial complex III deficiency	http://purl.obolibrary.org/obo/DOID_700	mitochondrial metabolism disease		A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial respiratory chain complex III.
http://purl.obolibrary.org/obo/DOID_0111140	IGSF1 deficiency syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26.
http://purl.obolibrary.org/obo/DOID_0111141	delayed sleep phase syndrome	http://purl.obolibrary.org/obo/DOID_535	sleep disorder		A sleep disorder characterized by an extreme evening preference, sleep-onset insomnia, and difficulty in awakening at the desired time.
http://purl.obolibrary.org/obo/DOID_0111142	oligomeganephronia	http://purl.obolibrary.org/obo/DOID_0080204	renal hypoplasia		A renal hypoplasia characterized by bilateral reduced kidney size with a marked decrease in the total number of nephrons.
http://purl.obolibrary.org/obo/DOID_0111143	mitochondrial complex V (ATP synthase) deficiency	http://purl.obolibrary.org/obo/DOID_700	mitochondrial metabolism disease		A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex.
http://purl.obolibrary.org/obo/DOID_0111144	preterm premature rupture of the membranes	http://purl.obolibrary.org/obo/DOID_229	female reproductive system disease		A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation.
http://purl.obolibrary.org/obo/DOID_0111145	ureteropelvic junction obstruction	http://purl.obolibrary.org/obo/DOID_5200	urinary tract obstruction		A urinary tract obstruction characterized by a blockage at the renal pelvis where the kidney attaches to the ureter.
http://purl.obolibrary.org/obo/DOID_0111146	acquired von Willebrand syndrome	http://purl.obolibrary.org/obo/DOID_1247	blood coagulation disease		A blood coagulation disease characterized by development of a defect in clotting in the absence of previous bleeding symptoms, negative familial history, and occurrence in a relatively older age. Typically this develops secondarily to other disorders, such as lymphoproliferative, myeloproliferative, cardiovascular and autoimmune disorders.
http://purl.obolibrary.org/obo/DOID_0111147	angioimmunoblastic T-cell lymphoma	http://purl.obolibrary.org/obo/DOID_0050749	peripheral T-cell lymphoma		A peripheral T-cell lymphoma characterized by autoimmune features and poor prognosis.
http://purl.obolibrary.org/obo/DOID_0111148	isolated ectopia lentis	http://purl.obolibrary.org/obo/DOID_110	lens disease		A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age.
http://purl.obolibrary.org/obo/DOID_0111149	autosomal recessive isolated ectopia lentis 2	http://purl.obolibrary.org/obo/DOID_0111148	isolated ectopia lentis		An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.
http://purl.obolibrary.org/obo/DOID_0111150	autosomal dominant isolated ectopia lentis 1	http://purl.obolibrary.org/obo/DOID_0111148	isolated ectopia lentis		An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.
http://purl.obolibrary.org/obo/DOID_0111151	Prinzmetal angina	http://purl.obolibrary.org/obo/DOID_11840	coronary artery vasospasm		A coronary artery vasospasm characterized by spasms of the coronary arteries that occur while at rest, generally late at night or early in the morning, resulting in severe chest pain with preserved exercise capacity.
http://purl.obolibrary.org/obo/DOID_0111152	multicentric Castleman disease	http://purl.obolibrary.org/obo/DOID_0111157	Castleman disease		A Castleman disease characterized by systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6.
http://purl.obolibrary.org/obo/DOID_0111153	congenital mirror movement disorder	http://purl.obolibrary.org/obo/DOID_480	movement disease		A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs.
http://purl.obolibrary.org/obo/DOID_0111154	postural orthostatic tachycardia syndrome	http://purl.obolibrary.org/obo/DOID_10273	heart conduction disease		A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2.
http://purl.obolibrary.org/obo/DOID_0111155	autosomal recessive spinocerebellar ataxia 21	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0111156	spermatogenic failure 9	http://purl.obolibrary.org/obo/DOID_0112312	male infertility due to globozoospermia		A male infertility characterized by round-headed spermatozoa lacking an acrosome and that has_material_basis_in autosomal recessive inheritance in a mutation in the DPY19L2 gene on chromosome 12q14.
http://purl.obolibrary.org/obo/DOID_0111157	Castleman disease	http://purl.obolibrary.org/obo/DOID_0060704	lymphoproliferative syndrome		A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically.
http://purl.obolibrary.org/obo/DOID_0111158	SADDAN	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16.
http://purl.obolibrary.org/obo/DOID_0111159	partial trisomy distal 4q	http://purl.obolibrary.org/obo/DOID_0060429	chromosomal duplication syndrome		A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q.
http://purl.obolibrary.org/obo/DOID_0111160	camptodactyly-tall stature-scoliosis-hearing loss syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16.
http://purl.obolibrary.org/obo/DOID_0111161	Crouzon syndrome-acanthosis nigricans syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16.
http://purl.obolibrary.org/obo/DOID_0111162	epidermal nevus	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth.
http://purl.obolibrary.org/obo/DOID_0111163	molybdenum cofactor deficiency type B	http://purl.obolibrary.org/obo/DOID_0111165	molybdenum cofactor deficiency		A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11.
http://purl.obolibrary.org/obo/DOID_0111164	molybdenum cofactor deficiency type A	http://purl.obolibrary.org/obo/DOID_0111165	molybdenum cofactor deficiency		A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0111165	molybdenum cofactor deficiency	http://purl.obolibrary.org/obo/DOID_896	metal metabolism disorder		A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage.
http://purl.obolibrary.org/obo/DOID_0111166	molybdenum cofactor deficiency type C	http://purl.obolibrary.org/obo/DOID_0111165	molybdenum cofactor deficiency		A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23.
http://purl.obolibrary.org/obo/DOID_0111167	Dyggve-Melchior-Clausen disease	http://purl.obolibrary.org/obo/DOID_0080027	spondyloepimetaphyseal dysplasia		A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21.
http://purl.obolibrary.org/obo/DOID_0111168	sepiapterin reductase deficiency	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency.
http://purl.obolibrary.org/obo/DOID_0111169	subcortical band heterotopia	http://purl.obolibrary.org/obo/DOID_2490	congenital nervous system abnormality		A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex.
http://purl.obolibrary.org/obo/DOID_0111170	autosomal dominant sensory ataxia 1	http://purl.obolibrary.org/obo/DOID_0050951	hereditary ataxia		A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromosome 8.
http://purl.obolibrary.org/obo/DOID_60007	cerebrovascular benign neoplasm	http://purl.obolibrary.org/obo/DOID_0060091	cardiovascular organ benign neoplasm		A cardiovascular organ benign neoplasm that is located_in the cerebrovascular system.
http://purl.obolibrary.org/obo/DOID_60008	parathyroid gland benign neoplasm	http://purl.obolibrary.org/obo/DOID_11201	parathyroid gland disease		An endocrine organ benign neoplasm that is located_in some parathyroid gland.
http://purl.obolibrary.org/obo/DOID_60009	pituitary gland benign neoplasm	http://purl.obolibrary.org/obo/DOID_53	pituitary gland disease		A benign neoplasm located in the pituitary gland.
http://purl.obolibrary.org/obo/DOID_0080937	wild-type amyloidosis	http://purl.obolibrary.org/obo/DOID_9120	amyloidosis		An amyloidosis that is characterized by progressive instability, misfolding and formation of amloid fibrils of the transthyretin protein.
http://purl.obolibrary.org/obo/DOID_0080910	cerebrooculofacioskeletal syndrome	http://purl.obolibrary.org/obo/DOID_2962	Cockayne syndrome		A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis.
http://purl.obolibrary.org/obo/CHEBI_5631	heavy metal	http://purl.obolibrary.org/obo/CHEBI_64909	poison		Any metal that is characterized by its rather high atomic mass and density. Although typically occurring in low concentrations, they can be found all throughout the Earth's crust (Commonly, a density of at least 5 g cm(3) is used to define a heavy metal and to differentiate it from other, ''light'' metals).
http://purl.obolibrary.org/obo/DOID_0081002	Cowden syndrome 6	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Cowden syndrome that has_material_basis_in heterozygous mutation in the AKT1 gene on chromosome 14q32.3.
http://purl.obolibrary.org/obo/SYMP_0019188	intracranial hemorrhage	http://purl.obolibrary.org/obo/SYMP_0000041	hemorrhage		A hemorrhage that is characterized by any bleeding occurring within the skull.
http://purl.obolibrary.org/obo/SYMP_0019189	intracerebral hemorrhage	http://purl.obolibrary.org/obo/SYMP_0000041	hemorrhage		A hemorrhage that is characterized by bleeding within the brain tissue itself.
http://purl.obolibrary.org/obo/SYMP_0019190	subdural hemorrhage	http://purl.obolibrary.org/obo/SYMP_0000041	hemorrhage		A hemorrhage that is characterized by bleeding that occurs within the skull of head but outside the actual brain tissue.
http://purl.obolibrary.org/obo/SYMP_0020008	barking croup cough	http://purl.obolibrary.org/obo/SYMP_0000614	cough		A cough that is characterized by a tight, low-pitched, and barky (like a barking seal) cough.
http://purl.obolibrary.org/obo/DOID_0081365	Paget's disease of bone 2	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Paget's disease of bone that has_material_basis_in heterozygous mutation in the TNFRSF11A gene, which encodes RANK, on chromosome 18q21.
http://purl.obolibrary.org/obo/DOID_0081364	neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	http://purl.obolibrary.org/obo/DOID_1289	neurodegenerative disease		A neurodegenerative disease that is characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades and that has_material_basis_in homozygous mutation in the SQSTM1 gene on chromosome 5q35.
http://purl.obolibrary.org/obo/DOID_0070365	nevoid basal cell carcinoma syndrome 1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22.
http://purl.obolibrary.org/obo/DOID_0081356	spinal muscular atrophy, Jokela type	http://purl.obolibrary.org/obo/DOID_12377	spinal muscular atrophy		A spinal muscular atrophy that is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11.
http://purl.obolibrary.org/obo/DOID_0081357	isolated mitochondrial myopathy	http://purl.obolibrary.org/obo/DOID_699	mitochondrial myopathy		A mitochondrial myopathy that is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11.
http://purl.obolibrary.org/obo/DOID_0081361	spastic quadriplegic cerebral palsy 3	http://purl.obolibrary.org/obo/DOID_10970	spastic quadriplegic cerebral palsy		A spastic quadriplegic cerebral palsy that has_material_basis_in homozygous mutation in the ADD3 gene on chromosome 10q24.
http://purl.obolibrary.org/obo/DOID_0081369	Paget's disease of bone 6	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Paget's disease of bone that is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton and that has_material_basis_in heterozygous mutation in the ZNF687 gene on chromosome 1q21.
http://purl.obolibrary.org/obo/DOID_0070526	PLACK syndrome	http://purl.obolibrary.org/obo/DOID_37	skin disease		An skin disease characterized by peeling skin in association with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads that has_material_basis_in homozygous mutation in the CAST gene on chromosome 5q15.
http://purl.obolibrary.org/obo/DOID_0081420	familial focal epilepsy with variable foci	http://purl.obolibrary.org/obo/DOID_2234	focal epilepsy		A focal epilepsy that is characterized by focal seizures, with seizure onset in a discrete area of the brain including the temporal, frontal, parietal, and occipital lobes, with focal seizures arising from different cortical regions in different family members.
http://purl.obolibrary.org/obo/DOID_0070531	foveal hypoplasia 2	http://purl.obolibrary.org/obo/DOID_5679	retinal disease		A retinal disease characterized by foveal hypoplasia with decreased visual acuity and nystagmus that has_material_basis_in homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23.3. Optic nerve decussation defects and anterior segment dysgenesis are also frequently seen.
http://purl.obolibrary.org/obo/DOID_0070520	peeling skin syndrome 1	http://purl.obolibrary.org/obo/DOID_0060283	peeling skin syndrome		A peeling skin syndrome that has_material_basis_in homozygous mutation in the CDSN gene on chromosome 6p21.33.
http://purl.obolibrary.org/obo/DOID_0070518	familial multiple lipomatosis	http://purl.obolibrary.org/obo/DOID_3153	lipomatosis		A lipomatosis characterized by the development of numerous encapsulated lipomas on the extremities and trunk that has_material_basis_in autosomal dominant inheritance.
http://purl.obolibrary.org/obo/DOID_0081414	TFEB-rearranged renal cell carcinoma	http://purl.obolibrary.org/obo/DOID_0081413	renal cell carcinoma with MiT translocations		A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, located on chromosome 6, with the MALAT1 gene, located on chromosome 11.
http://purl.obolibrary.org/obo/DOID_0081402	sarcoma with BCOR genetic alterations	http://purl.obolibrary.org/obo/DOID_3098	small cell sarcoma		A small cell sarcoma that is characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm and the presence of BCOR genetic alterations.
http://purl.obolibrary.org/obo/DOID_0081417	poorly differentiated chordoma	http://purl.obolibrary.org/obo/DOID_3302	chordoma		A chordoma that is characterized by loss of SMARCB1 expression and that is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm.
http://purl.obolibrary.org/obo/DOID_0060941	interstitial lung disease 1	http://purl.obolibrary.org/obo/DOID_3082	interstitial lung disease		An interstitial lung disease characterized by a progressive remodeling of the alveolar interstitium that has_material_basis_in heterozygous mutation in the SFTPA1 gene on chromosome 10q22.
http://purl.obolibrary.org/obo/DOID_0060945	amelogenesis imperfecta type 1K	http://purl.obolibrary.org/obo/DOID_2187	amelogenesis imperfecta		An amelogenesis imperfecta characterized by hypoplastic enamel of all teeth that has_material_basis_in heterozygous mutation in the SP6 gene on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0081448	cone-rod dystrophy 22	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A cone-rod dystrophy that is characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life and that has_material_basis_in homozygous mutation in the TLCD3B gene on chromosome 16p11.
http://purl.obolibrary.org/obo/DOID_0060991	congenital disorder of deglycosylation	http://purl.obolibrary.org/obo/DOID_2978	carbohydrate metabolic disorder		A carbohydrate metabolic disorder that is charactized mutations resulting in malfunction impacting the addition of glycans to proteins.
http://purl.obolibrary.org/obo/DOID_0060984	digenic dyskeratosis congenita	http://purl.obolibrary.org/obo/DOID_2729	dyskeratosis congenita		A dyskeratosis congenita characterized by combination of mucocutaneous features including abnormal skin pigmentation, nail dystrophy, thin hair, and oral leukoplakia that has_material_basis_in heterozygous mutation in the TYMS gene combined with a specific haplotype in the ENOSF1 gene, both of which reside on chromosome 18p11.
http://purl.obolibrary.org/obo/DOID_0070607	autosomal dominant nonsyndromic deafness 90	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the MYO3A gene on chromosome 10p12.
http://purl.obolibrary.org/obo/DOID_0070615	autoinflammation, antibody deficiency, and immune dysregulation syndrome	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		An autoimmune disease characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract that has_material_basis in heterozygous mutation in the PLCG2 gene on chromosome 16q23.
http://purl.obolibrary.org/obo/DOID_0061003	pancreatic agenesis 1	http://purl.obolibrary.org/obo/DOID_0050877	pancreatic agenesis		A pancreatic agenesis characterized by intrauterine growth retardation that has_material_basis_in homozygous or compound heterozygous mutation in the PDX1 gene on chromosome 13q12.
http://purl.obolibrary.org/obo/TRANS_0000027	arachnid borne transmission	http://purl.obolibrary.org/obo/TRANS_0000019	arthropod borne transmission		Arachnid borne transmission is an arthropod vector-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an intermediary arthropod vector such as a tick to another host.
http://purl.obolibrary.org/obo/SYMP_0000829	neck pain	http://purl.obolibrary.org/obo/SYMP_0000099	pain		A pain that is characterized by an unpleasant sensation localized in the neck that usually indicates the body is threatened or damaged. The sensation may be sharp or dull, short-lived or chronic, intermittent or continual.
http://purl.obolibrary.org/obo/FOODON_00001579	alcoholic beverage	http://purl.obolibrary.org/obo/DISDRIV_0000006	chemical driver		An alcoholic drink (or alcoholic beverage) is a drink that contains ethanol, a type of alcohol produced by fermentation of grains, fruits, or other sources of sugar.
http://purl.obolibrary.org/obo/SYMP_0000895	anaphylactic shock	http://purl.obolibrary.org/obo/SYMP_0019138	immune system symptom		An acute allergic reaction to an antigen to which the body has become hypersensitive.
http://purl.obolibrary.org/obo/SYMP_0000896	exophthalmos	http://purl.obolibrary.org/obo/SYMP_0019163	eye symptom		An abnormal protrusion or displacement of an eye or other body part.
http://purl.obolibrary.org/obo/SYMP_0000897	ventricular bradycardia	http://purl.obolibrary.org/obo/SYMP_0000231	bradycardia		A bradycardia associated with the generation of impules in the ventricles when impules from the atria fail to reach them, characterized by an electrocardiogram showing a heart rate below 50 BPM and a broad QRS complex.
http://purl.obolibrary.org/obo/SYMP_0000898	cardiac fibrillation	http://purl.obolibrary.org/obo/SYMP_0000287	arrhythmia		An arrhythmia characterized by rapid, irregular, and unsynchronized contraction of muscle fibers within the heart.
http://purl.obolibrary.org/obo/SYMP_0000899	ventricular fibrillation	http://purl.obolibrary.org/obo/SYMP_0000898	cardiac fibrillation		A cardiac fibrillation associated with quivering of the lower chambers of the heart, preventing blood from being pumped and causing cardiac arrest.
http://purl.obolibrary.org/obo/DOID_0080501	GM1 gangliosidosis type 2	http://purl.obolibrary.org/obo/DOID_3322	GM1 gangliosidosis		A GM1 gangliosidosis that is characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age.
http://purl.obolibrary.org/obo/DOID_0080502	GM1 gangliosidosis type 1	http://purl.obolibrary.org/obo/DOID_3322	GM1 gangliosidosis		A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death.
http://purl.obolibrary.org/obo/DOID_0080503	multiple congenital anomalies-hypotonia-seizures syndrome	http://purl.obolibrary.org/obo/DOID_3146	lipid metabolism disorder		A lipid metabolism disorder that is characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple cardiac, genitourinary, and gastrointestinal congenital anomalies.
http://purl.obolibrary.org/obo/DOID_0080531	dedifferentiated liposarcoma	http://purl.obolibrary.org/obo/DOID_3382	liposarcoma		A liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells.
http://purl.obolibrary.org/obo/DOID_0080532	Smarca4-deficient sarcoma of thorax	http://purl.obolibrary.org/obo/DOID_5093	thoracic cancer		A thoracic cancer that is characterized by poorly differentiated neoplasms with epithelioid/rhabdoid cells organized in a solid pattern and has_material_basis_in alterations in the switch/sucrose nonfermenting complex, also known in humans as BRG1-associated factors (BAF chromatin remodeling complex).
http://purl.obolibrary.org/obo/DOID_0080533	Carney-Stratakis syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors.
http://purl.obolibrary.org/obo/DOID_0080534	myxofibrosarcoma	http://purl.obolibrary.org/obo/DOID_1115	sarcoma		A sarcoma that arises from the soft tissue and is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma.
http://purl.obolibrary.org/obo/DOID_0080535	hypermanganesemia with dystonia	http://purl.obolibrary.org/obo/DOID_896	metal metabolism disorder		A metal metabolism disorder that is characterized by involuntary, sustained muscle contractions (dystonia) and other uncontrolled movements resulting from excessive accumulation of manganese.
http://purl.obolibrary.org/obo/DOID_0080536	hypermanganesemia with dystonia 1	http://purl.obolibrary.org/obo/DOID_0080535	hypermanganesemia with dystonia		A hypermanganesemia with dystonia that is characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction and has_material_basis_in homozygous mutation in the SLC30A10 gene on chromosome 1q41.
http://purl.obolibrary.org/obo/DOID_0080537	hypermanganesemia with dystonia 2	http://purl.obolibrary.org/obo/DOID_0080535	hypermanganesemia with dystonia		A hypermanganesemia with dystonia that is characterized predominantly by loss of motor milestones in the first years of life and has_material_basis_in homozygous mutation in the SLC39A14 gene on chromosome 8p21.
http://purl.obolibrary.org/obo/DOID_0080538	Sweeney-Cox syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21.
http://purl.obolibrary.org/obo/DOID_0080539	PEHO syndrome	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss.
http://purl.obolibrary.org/obo/DOID_0080540	galactosialidosis	http://purl.obolibrary.org/obo/DOID_3211	lysosomal storage disease		A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has_material_basis_in homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13.
http://purl.obolibrary.org/obo/DOID_0080541	hyperprolinemia	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amno acid metabolic disorder that is characterized by the excess of proline in the blood.
http://purl.obolibrary.org/obo/DOID_0080542	hyperprolinemia type 1	http://purl.obolibrary.org/obo/DOID_0080541	hyperprolinemia		A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11.
http://purl.obolibrary.org/obo/DOID_0080543	hyperprolinemia type 2	http://purl.obolibrary.org/obo/DOID_0080541	hyperprolinemia		A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0111265	Boucher-Neuhauser syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2.
http://purl.obolibrary.org/obo/DOID_0111266	geroderma osteodysplasticum	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2.
http://purl.obolibrary.org/obo/DOID_0111267	hyaline body myopathy	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2.
http://purl.obolibrary.org/obo/DOID_0111268	autosomal recessive hyaline body myopathy	http://purl.obolibrary.org/obo/DOID_0111267	hyaline body myopathy		A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2.
http://purl.obolibrary.org/obo/DOID_0111269	autosomal dominant hyaline body myopathy	http://purl.obolibrary.org/obo/DOID_0111267	hyaline body myopathy		A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2.
http://purl.obolibrary.org/obo/DOID_0111270	isolated sulfite oxidase deficiency	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		An inherited metabolic disorder characterized by increased sulfite in the urine with markedly decreased inorganic sulfate excretion and resulting in variable phenotypes ranging from severe early onset disease to late-onset, milder disease that has_material_basis_in homozygous or compound heterozygous mutation in SUOX on 12q13.2.
http://purl.obolibrary.org/obo/DOID_0111271	Oliver-McFarlane syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2.
http://purl.obolibrary.org/obo/DOID_0111272	occipital horn syndrome	http://purl.obolibrary.org/obo/DOID_896	metal metabolism disorder		A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease.
http://purl.obolibrary.org/obo/DOID_0111273	NARP syndrome	http://purl.obolibrary.org/obo/DOID_700	mitochondrial metabolism disease		A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6.
http://purl.obolibrary.org/obo/DOID_0111274	CODAS syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3.
http://purl.obolibrary.org/obo/DOID_0111275	speech-language disorder-1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that has_material_basis_in heterozygous mutation in FOXP2 on 7q31.1.
http://purl.obolibrary.org/obo/DOID_0111276	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	http://purl.obolibrary.org/obo/DOID_700	mitochondrial metabolism disease		A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1.
http://purl.obolibrary.org/obo/DOID_0111277	mitochondrial trifunctional protein deficiency	http://purl.obolibrary.org/obo/DOID_3146	lipid metabolism disorder		A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from several neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.
http://purl.obolibrary.org/obo/DOID_0111278	histiocytosis-lymphadenopathy plus syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome.
http://purl.obolibrary.org/obo/DOID_0080642	Middle East respiratory syndrome	http://purl.obolibrary.org/obo/DOID_0080599	Coronavirus infectious disease		A Coronavirus infectious disease that is characterized by severe respiratory illness, including fever, cough, and shortness of breath and that has_material_basis_in Middle East respiratory syndrome-related coronavirus (MERS-CoV, Betacoronavirus cameli).
http://purl.obolibrary.org/obo/DOID_0080643	B-lymphoblastic leukemia/lymphoma with BCR-ABL1	http://purl.obolibrary.org/obo/DOID_0080630	B-lymphoblastic leukemia/lymphoma		A B-lymphoblastic leukemia/lymphoma that derives_from B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein.
http://purl.obolibrary.org/obo/DOID_0080644	B-lymphoblastic leukemia/lymphoma MLL rearranged	http://purl.obolibrary.org/obo/DOID_0080630	B-lymphoblastic leukemia/lymphoma		A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein.
http://purl.obolibrary.org/obo/DOID_0080645	B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1	http://purl.obolibrary.org/obo/DOID_0080630	B-lymphoblastic leukemia/lymphoma		A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein.
http://purl.obolibrary.org/obo/DOID_0080646	B-lymphoblastic leukemia/lymphoma with hyperdiploidy	http://purl.obolibrary.org/obo/DOID_0080630	B-lymphoblastic leukemia/lymphoma		A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes.
http://purl.obolibrary.org/obo/DOID_0080647	B-lymphoblastic leukemia/lymphoma with hypodiploidy	http://purl.obolibrary.org/obo/DOID_0080630	B-lymphoblastic leukemia/lymphoma		A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain less than 46 chromosomes.
http://purl.obolibrary.org/obo/DOID_0080648	B-lymphoblastic leukemia/lymphoma with IGH::IL3 fusion	http://purl.obolibrary.org/obo/DOID_0080630	B-lymphoblastic leukemia/lymphoma		A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3).
http://purl.obolibrary.org/obo/DOID_0080649	B-lymphoblastic leukemia/lymphoma with TCF3-PBX1	http://purl.obolibrary.org/obo/DOID_0080630	B-lymphoblastic leukemia/lymphoma		A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1.
http://purl.obolibrary.org/obo/DOID_0080650	B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like	http://purl.obolibrary.org/obo/DOID_0080630	B-lymphoblastic leukemia/lymphoma		A B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion.
http://purl.obolibrary.org/obo/DOID_0080651	B-lymphoblastic leukemia/lymphoma with iAMP21	http://purl.obolibrary.org/obo/DOID_0080630	B-lymphoblastic leukemia/lymphoma		A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21.
http://purl.obolibrary.org/obo/DOID_0080810	acute asthma	http://purl.obolibrary.org/obo/DOID_2841	asthma		An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment.
http://purl.obolibrary.org/obo/DOID_0080811	extrinsic asthma	http://purl.obolibrary.org/obo/DOID_0080809	chronic asthma		A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin E (IgE) antibodies.
http://purl.obolibrary.org/obo/DOID_0080781	benign exocrine pancreas neoplasm	http://purl.obolibrary.org/obo/DOID_0060089	endocrine organ benign neoplasm		An endocrine organ benign neoplasm arising from the exocrine pancreas.
http://purl.obolibrary.org/obo/DOID_0080782	mucinous pancreas adenocarcinoma	http://purl.obolibrary.org/obo/DOID_4074	pancreatic adenocarcinoma		A pancreatic adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.
http://purl.obolibrary.org/obo/DOID_0080784	urinary tract infection	http://purl.obolibrary.org/obo/DOID_18	urinary system disease		An urinary system disease that is characterized by an infection in any part of the urinary system, including the kidneys, ureters, bladder or urethra.
http://purl.obolibrary.org/obo/DOID_0080785	Brown-Vialetto-Van Laere syndrome 1	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13.
http://purl.obolibrary.org/obo/DOID_0080786	Brown-Vialetto-Van Laere syndrome 2	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Brown-Vialetto-Van Laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC52A2 gene on chromosome 8q24.
http://purl.obolibrary.org/obo/DOID_0080787	proximal symphalangism 1	http://purl.obolibrary.org/obo/DOID_0050788	proximal symphalangism		A proximal symphalangism that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22.
http://purl.obolibrary.org/obo/DOID_0080788	proximal symphalangism 2	http://purl.obolibrary.org/obo/DOID_0050788	proximal symphalangism		A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.
http://purl.obolibrary.org/obo/DOID_0080789	Treacher Collins syndrome 1	http://purl.obolibrary.org/obo/DOID_2908	Treacher Collins syndrome		A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32.
http://purl.obolibrary.org/obo/DOID_0080790	Treacher Collins syndrome 2	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12.
http://purl.obolibrary.org/obo/DOID_0080791	Treacher Collins syndrome 3	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Treacher Collins syndrome that has_material_basis_in compound heterozygous mutation in the POLR1C gene on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0080792	Treacher Collins syndrome 4	http://purl.obolibrary.org/obo/DOID_2908	Treacher Collins syndrome		A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the POLR1B gene on chromosome 2q14.
http://purl.obolibrary.org/obo/DOID_0080794	childhood acute megakaryoblastic leukemia	http://purl.obolibrary.org/obo/DOID_8761	acute megakaryocytic leukemia		An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood.
http://purl.obolibrary.org/obo/DOID_0080795	acute basophilic leukemia	http://purl.obolibrary.org/obo/DOID_9119	acute myeloid leukemia		An acute myeloid leukemia that is characterized by primary differentiation to basophils.
http://purl.obolibrary.org/obo/DOID_0080796	core binding factor acute myeloid leukemia	http://purl.obolibrary.org/obo/DOID_9119	acute myeloid leukemia		An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis.
http://purl.obolibrary.org/obo/DOID_0080797	nasal type extranodal NK/T-cell lymphoma	http://purl.obolibrary.org/obo/DOID_10811	nasal cavity cancer		A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells.
http://purl.obolibrary.org/obo/DOID_0080798	myeloid leukemia associated with Down Syndrome	http://purl.obolibrary.org/obo/DOID_8761	acute megakaryocytic leukemia		An acute megakaryocytic leukemia occurring in children with Down syndrome and that has_material_basis_in mutation in the GATA1 gene.
http://purl.obolibrary.org/obo/DOID_0080799	sinonasal undifferentiated carcinoma	http://purl.obolibrary.org/obo/DOID_0050619	paranasal sinus cancer		A nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells.
http://purl.obolibrary.org/obo/DOID_0080800	salivary gland mucinous adenocarcinoma	http://purl.obolibrary.org/obo/DOID_0050904	salivary gland carcinoma		A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found.
http://purl.obolibrary.org/obo/DOID_0080801	autosomal dominant craniometaphyseal dysplasia	http://purl.obolibrary.org/obo/DOID_0080033	craniometaphyseal dysplasia		A craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ANKH gene on chromosome 5p15.
http://purl.obolibrary.org/obo/DOID_0080802	autosomal recessive craniometaphyseal dysplasia	http://purl.obolibrary.org/obo/DOID_0080033	craniometaphyseal dysplasia		A craniometaphyseal dysplasia that has_material_basis_in homozygous mutation in the GJA1 gene on chromosome 6q22.
http://purl.obolibrary.org/obo/DOID_0080803	cranioectodermal dysplasia 1	http://purl.obolibrary.org/obo/DOID_0050577	cranioectodermal dysplasia		A cranioectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the IFT122 gene on chromosome 3q21.
http://purl.obolibrary.org/obo/DOID_0080804	cranioectodermal dysplasia 2	http://purl.obolibrary.org/obo/DOID_0050577	cranioectodermal dysplasia		A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR35 gene on chromosome 2p24.
http://purl.obolibrary.org/obo/DOID_0080805	cranioectodermal dysplasia 3	http://purl.obolibrary.org/obo/DOID_0050577	cranioectodermal dysplasia		A cranioectodermal dysplasia that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24.
http://purl.obolibrary.org/obo/DOID_0080806	cranioectodermal dysplasia 4	http://purl.obolibrary.org/obo/DOID_0050577	cranioectodermal dysplasia		A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR19 gene on chromosome 4p14.
http://purl.obolibrary.org/obo/DOID_0080807	autosomal dominant craniodiaphyseal dysplasia	http://purl.obolibrary.org/obo/DOID_0080032	craniodiaphyseal dysplasia		A craniodiaphyseal dysplasia that has_material_basis_in heterozygous mutation in the SOST gene on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0080808	mammary analogue secretory carcinoma	http://purl.obolibrary.org/obo/DOID_0050904	salivary gland carcinoma		A salivary gland carcinoma that has_material_basis_in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene.
http://purl.obolibrary.org/obo/DOID_0080812	intermittent asthma	http://purl.obolibrary.org/obo/DOID_0080809	chronic asthma		A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity.
http://purl.obolibrary.org/obo/DOID_0080813	persistent mild asthma	http://purl.obolibrary.org/obo/DOID_0080809	chronic asthma		A chronic asthma that is characterized by severity with symptoms two or more days per week, nighttime awakenings three to four times per month, use of short-acting beta agonist for symptom control two or more days per week and minor limitation of normal activity.
http://purl.obolibrary.org/obo/DOID_0080814	persistent moderate asthma	http://purl.obolibrary.org/obo/DOID_0080809	chronic asthma		A chronic asthma that is characterized by severity with daily symptoms, nighttime awakenings more than once per week, daily use of short-acting beta agonist for symptom control and some limitation of normal activity.
http://purl.obolibrary.org/obo/DOID_0080815	childhood-onset asthma	http://purl.obolibrary.org/obo/DOID_0080809	chronic asthma		A chronic asthma that is characterized by first presentation in early childhood.
http://purl.obolibrary.org/obo/DOID_0080816	adult-onset severe asthma	http://purl.obolibrary.org/obo/DOID_0080809	chronic asthma		A chronic asthma that is characterized by first presentation in adulthood.
http://purl.obolibrary.org/obo/DOID_0080817	T2-high asthma	http://purl.obolibrary.org/obo/DOID_0080809	chronic asthma		A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease.
http://purl.obolibrary.org/obo/DOID_0080818	T2-low asthma	http://purl.obolibrary.org/obo/DOID_0080809	chronic asthma		A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy.
http://purl.obolibrary.org/obo/DOID_0080819	environmentally induced asthma	http://purl.obolibrary.org/obo/DOID_9360	intrinsic asthma		An intrinsic asthma that is characterized by exposure to tobacco smoke and other inflammatory gases or particulate matter.
http://purl.obolibrary.org/obo/DOID_0080820	occupational asthma	http://purl.obolibrary.org/obo/DOID_0080819	environmentally induced asthma		An environmental induced asthma that is characterized by a variable airflow limitation due to exposure to inhaled irritants in the workplace.
http://purl.obolibrary.org/obo/DOID_0080821	exercise-induced bronchoconstriction	http://purl.obolibrary.org/obo/DOID_9360	intrinsic asthma		An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise.
http://purl.obolibrary.org/obo/DOID_0080822	aspirin-induced respiratory disease	http://purl.obolibrary.org/obo/DOID_9360	intrinsic asthma		An intrinsic asthma that is characterized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs.
http://purl.obolibrary.org/obo/DOID_0080823	near-fatal asthma	http://purl.obolibrary.org/obo/DOID_0080810	acute asthma		An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation.
http://purl.obolibrary.org/obo/DOID_0080824	persistent severe asthma	http://purl.obolibrary.org/obo/DOID_0080809	chronic asthma		A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control several times per day and extremely limited normal activity.
http://purl.obolibrary.org/obo/DOID_0080825	thunderstorm triggered asthma	http://purl.obolibrary.org/obo/DOID_9415	allergic asthma		An allergic asthma that is characterized by acute asthma attacks immediately following a thunderstorm resulting from inhalation of high concentrations of aeroallergens, most commonly grass pollen.
http://purl.obolibrary.org/obo/DOID_0080826	nocturnal asthma	http://purl.obolibrary.org/obo/DOID_0080809	chronic asthma		A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways.
http://purl.obolibrary.org/obo/DOID_0112060	Raynaud-Claes syndrome	http://purl.obolibrary.org/obo/DOID_0080009	X-linked dominant disease		A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in the CLCN4 gene on chromosome Xp22.2.
http://purl.obolibrary.org/obo/DOID_0112061	immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	http://purl.obolibrary.org/obo/DOID_0111962	combined immunodeficiency		A combined immunodeficiency characterized by onset of recurrent infections in infancy or early childhood and variable immune system abnormalities including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TCR excision circles and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis that has_material_basis_in heterozygous gain-of-function mutation in the RAC2 gene on chromosome 22q13.1.
http://purl.obolibrary.org/obo/DOID_0112062	immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia	http://purl.obolibrary.org/obo/DOID_0111962	combined immunodeficiency		A combined immunodeficiency characterized by onset of recurrent infection in early childhood, impaired neutrophil chemotaxis, decreased B cells, hypogammaglobulinemia, and other variable features that has_material_basis_in homozygous or compound heterozygous mutation in the RAC2 gene on chromosome 22q12.
http://purl.obolibrary.org/obo/DOID_0112063	X-Linked immunodeficiency 74	http://purl.obolibrary.org/obo/DOID_11200	T cell deficiency		A T cell deficiency characterized by severe respiratory insufficiency in response to infection with the COVID19 coronavirus and impaired signaling through the TLR7 pathway that has_material_basis_in hemizygous mutation in the TLR7 gene on chromosome Xp22.2.
http://purl.obolibrary.org/obo/DOID_0112064	immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis	http://purl.obolibrary.org/obo/DOID_0111962	combined immunodeficiency		A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that has_material_basis_in heterozygous loss of function mutation in the RAC2 gene on chromosome 22q13.1.
http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency	http://purl.obolibrary.org/obo/DOID_0060536	mitochondrial complex I deficiency		A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the nuclear genome.
http://purl.obolibrary.org/obo/DOID_0112066	nuclear type mitochondrial complex I deficiency 6	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS2 gene on chromosome 1q23.
http://purl.obolibrary.org/obo/DOID_0112067	nuclear type mitochondrial complex I deficiency 25	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous and compound heterozygous mutation in the NDUFB3 gene on chromosome 2q33.1.
http://purl.obolibrary.org/obo/DOID_0112068	nuclear type mitochondrial complex I deficiency 5	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS1 gene on chromosome 2q33.3.
http://purl.obolibrary.org/obo/DOID_0112069	nuclear type mitochondrial complex I deficiency 22	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA10 gene on chromosome 2q37.3.
http://purl.obolibrary.org/obo/DOID_0112070	nuclear type mitochondrial complex I deficiency 18	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF3 gene on chromosome 2p21.31.
http://purl.obolibrary.org/obo/DOID_0112071	nuclear type mitochondrial complex I deficiency 31	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMMDC1 gene on chromosome 3q13.33.
http://purl.obolibrary.org/obo/DOID_0112072	nuclear type mitochondrial complex I deficiency 20	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in the ACAD9 gene on chromosome 3q21.3.
http://purl.obolibrary.org/obo/DOID_0112073	nuclear type mitochondrial complex I deficiency 9	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS6 gene on chromosome 5p15.33.
http://purl.obolibrary.org/obo/DOID_0112074	nuclear type mitochondrial complex I deficiency 1	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS4 gene on chromosome 5q11.2.
http://purl.obolibrary.org/obo/DOID_0112075	nuclear type mitochondrial complex I deficiency 10	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF2 gene on chromosome 5q12.1.
http://purl.obolibrary.org/obo/DOID_0112076	nuclear type mitochondrial complex I deficiency 13	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA2 gene on chromosome 5q31.3.
http://purl.obolibrary.org/obo/DOID_0112077	nuclear type mitochondrial complex I deficiency 15	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF4 gene on chromosome 6q16.1.
http://purl.obolibrary.org/obo/DOID_0112078	nuclear type mitochondrial complex I deficiency 17	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF6 gene on chromosome 8q22.1.
http://purl.obolibrary.org/obo/DOID_0112079	nuclear type mitochondrial complex I deficiency 24	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB9 gene on chromosome 8q24.13.
http://purl.obolibrary.org/obo/DOID_0112080	nuclear type mitochondrial complex I deficiency 32	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB8 gene on chromosome 10q24.31.
http://purl.obolibrary.org/obo/DOID_0112081	nuclear type mitochondrial complex I deficiency 8	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS3 gene on chromosome 11p11.2.
http://purl.obolibrary.org/obo/DOID_0112082	nuclear type mitochondrial complex I deficiency 4	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV1 gene on chromosome 11q13.2.
http://purl.obolibrary.org/obo/DOID_0112083	nuclear type mitochondrial complex I deficiency 2	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS8 gene on chromosome 11q13.2.
http://purl.obolibrary.org/obo/DOID_0112084	nuclear type mitochondrial complex I deficiency 29	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126B gene on chromosome 11q14.1.
http://purl.obolibrary.org/obo/DOID_0112085	nuclear type mitochondrial complex I deficiency 19	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FOXRED1 gene on chromosome 11q24.2.
http://purl.obolibrary.org/obo/DOID_0112086	nuclear type mitochondrial complex I deficiency 26	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA9 gene on chromosome 12p13.32.
http://purl.obolibrary.org/obo/DOID_0112087	nuclear type mitochondrial complex I deficiency 23	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA12 gene on chromosome 12q22.
http://purl.obolibrary.org/obo/DOID_0112088	nuclear type mitochondrial complex I deficiency 21	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NUBPL gene on chromosome 14q12.
http://purl.obolibrary.org/obo/DOID_0112089	nuclear type mitochondrial complex I deficiency 11	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF1 gene on chromosome 15q15.1.
http://purl.obolibrary.org/obo/DOID_0112090	nuclear type mitochondrial complex I deficiency 27	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22.31.
http://purl.obolibrary.org/obo/DOID_0112091	nuclear type mitochondrial complex I deficiency 34	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF8 gene on chromosome 17q25.3.
http://purl.obolibrary.org/obo/DOID_0112092	nuclear type mitochondrial complex I deficiency 7	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV2 gene on chromosome 18p11.22.
http://purl.obolibrary.org/obo/DOID_0112093	nuclear type mitochondrial complex I deficiency 3	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS7 gene on chromosome 19p13.3.
http://purl.obolibrary.org/obo/DOID_0112094	nuclear type mitochondrial complex I deficiency 14	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA11 gene on chromosome 19p13.3.
http://purl.obolibrary.org/obo/DOID_0112095	nuclear type mitochondrial complex I deficiency 28	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA13 gene on chromosome 19p13.11.
http://purl.obolibrary.org/obo/DOID_0112096	nuclear type mitochondrial complex I deficiency 16	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF5 gene on chromosome 20p12.1.
http://purl.obolibrary.org/obo/DOID_0112097	nuclear type mitochondrial complex I deficiency 33	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA6 gene on chromosome 22q13.2.
http://purl.obolibrary.org/obo/DOID_0112098	nuclear type mitochondrial complex I deficiency 30	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFB11 gene on chromosome Xp11.3.
http://purl.obolibrary.org/obo/DOID_0112099	nuclear type mitochondrial complex I deficiency 12	http://purl.obolibrary.org/obo/DOID_0112065	nuclear type mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFA1 gene on chromosome Xq24.
http://purl.obolibrary.org/obo/DOID_0112100	mitochondrial type mitochondrial complex I deficiency	http://purl.obolibrary.org/obo/DOID_0060536	mitochondrial complex I deficiency		A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the mitochondrial genome.
http://purl.obolibrary.org/obo/DOID_0112101	mitochondrial type mitochondrial complex I deficiency 1	http://purl.obolibrary.org/obo/DOID_0112100	mitochondrial type mitochondrial complex I deficiency		A mitochondrial type mitochondrial complex I deficiency that has_material_basis_in mutation in MTND3 in the mitochondrial genome.
http://purl.obolibrary.org/obo/DOID_0070374	leukoencephalopathy with vanishing white matter 1	http://purl.obolibrary.org/obo/DOID_0060868	leukoencephalopathy with vanishing white matter		A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B1 gene on chromosome 12q24.
http://purl.obolibrary.org/obo/DOID_0081422	familial focal epilepsy with variable foci 2	http://purl.obolibrary.org/obo/DOID_0081420	familial focal epilepsy with variable foci		A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL2 gene on chromosome 3p21.
http://purl.obolibrary.org/obo/DOID_0081429	autosomal recessive distal hereditary motor neuronopathy 10	http://purl.obolibrary.org/obo/DOID_0111197	autosomal recessive distal hereditary motor neuronopathy		An autosomal recessive distal hereditary motor neuronopathy characterized by distal muscle weakness and atrophy predominantly affecting the lower limbs and resulting in gait abnormalities and that has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene on chromosome 14q32.
http://purl.obolibrary.org/obo/DOID_0081403	BCOR ITD sarcoma	http://purl.obolibrary.org/obo/DOID_0081402	sarcoma with BCOR genetic alterations		A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication.
http://purl.obolibrary.org/obo/DOID_0081412	B-lymphoblastic leukemia with DUX4 rearrangement	http://purl.obolibrary.org/obo/DOID_0080630	B-lymphoblastic leukemia/lymphoma		A B lymphoblastic leukemia/lymphoma that is associated with DUX4 gene rearrangement.
http://purl.obolibrary.org/obo/DOID_0081405	childhood sarcoma with BCOR genetic alterations	http://purl.obolibrary.org/obo/DOID_0081402	sarcoma with BCOR genetic alterations		A sarcoma with BCOR genetic alterations that occurs during childhood.
http://purl.obolibrary.org/obo/DOID_0081410	round cell sarcoma with FUS-NFATC2 gene fusion	http://purl.obolibrary.org/obo/DOID_0081406	round cell sarcoma with EWSR1-non-ETS fusion		A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion.
http://purl.obolibrary.org/obo/DOID_0070604	autosomal dominant nonsyndromic deafness 84	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness characterized by bilateral, progressive sensorineural hearing loss with variable onset and audiogram shape that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34.
http://purl.obolibrary.org/obo/DOID_0060985	preaxial polydactyly type IV	http://purl.obolibrary.org/obo/DOID_1148	polydactyly		A polydactyly that has_material_basis_in heterozygous mutation in the GLI3 gene on chromosome 7p14.
http://purl.obolibrary.org/obo/DOID_0070609	autosomal dominant nonsyndromic deafness 83	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the MAP1B gene on chromosome 5q13.
http://purl.obolibrary.org/obo/DOID_0061237	aggressive periodontitis 1	http://purl.obolibrary.org/obo/DOID_1474	aggressive periodontitis		A periodontitis that has_material_basis_in homozygous mutation in the CTSC gene on chromosome 11q14.
http://purl.obolibrary.org/obo/DOID_0061238	Stargardt disease 3	http://purl.obolibrary.org/obo/DOID_0050817	Stargardt disease		A stargardt disease that is characterized by macular pigmentary changes and yellow flecks and macular retinal pigment epithelium defects and has_material_basis_in heterozygous mutation in the ELOVL4 gene on chromosome 6q14.
http://purl.obolibrary.org/obo/DOID_0061239	Stargardt disease 4	http://purl.obolibrary.org/obo/DOID_0050817	Stargardt disease		A stargardt disease that is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina and has_material_basis_in heterozygous mutation in the prominin-1 gene on chromosome 4p15.
http://purl.obolibrary.org/obo/DOID_0061240	Stargardt disease 5	http://purl.obolibrary.org/obo/DOID_0050817	Stargardt disease		A stargardt disease that is characterized by onset of macular dystrophy in the fifth decade of life, with mildly reduced visual acuity and normal amplitudes on electroretinography and has_material_basis_in homozygous mutation in the RDH8 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0061241	Stargardt disease 1	http://purl.obolibrary.org/obo/DOID_0050817	Stargardt disease		A stargardt disease that is characterized by juvenile-onset macular dystrophy with rapid central visual impairment, progressive bilateral atrophy of the foveal retinal pigment epithelium, and the frequent appearance of yellowish flecks, defined as lipofuscin deposits, around the macula and/or in the central and near-peripheral areas of the retina and has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22.
http://purl.obolibrary.org/obo/DOID_0061242	glucocorticoid deficiency 2	http://purl.obolibrary.org/obo/DOID_0080620	familial glucocorticoid deficiency		A familial glucocorticoid deficiency that has_material_basis_in homozygous mutation in the MRAP gene, encoding melanocortin-2 receptor accessory protein, on chromosome 21q22.
http://purl.obolibrary.org/obo/DOID_0061243	glucocorticoid deficiency 4 with or without mineralocorticoid deficiency	http://purl.obolibrary.org/obo/DOID_0080620	familial glucocorticoid deficiency		A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NNT gene on chromosome 5p12.
http://purl.obolibrary.org/obo/DOID_0061244	glucocorticoid deficiency 5	http://purl.obolibrary.org/obo/DOID_0080620	familial glucocorticoid deficiency		A familial glucocorticoid deficiency that has_material_basis_in homozygous mutation in the TXNRD2 gene on chromosome 22q11.
http://purl.obolibrary.org/obo/DOID_0061245	periventricular nodular heterotopia 8	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A periventricular nodular heterotopia characterized by abnormal neuronal migration during brain development, resulting in delayed psychomotor development that has_material_basis_in heterozygous mutation in the ARF1 gene on chromosome 1q42.
http://purl.obolibrary.org/obo/DOID_0061246	periventricular nodular heterotopia 9	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A periventricular nodular heterotopia characterized as a malformation of cortical development that has_material_basis_in heterozygous mutation in the MAP1B gene on chromosome 5q13.
http://purl.obolibrary.org/obo/DOID_0070668	Snijders Blok-Campeau syndrome	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder characterized by global developmental delay with delayed speech acquisition, impaired intellectual development of variable severity, and hypotonia that has_material_basis_in heterozygous mutation in the CHD3 gene on chromosome 17p13.
http://purl.obolibrary.org/obo/SYMP_0000327	tetanic convulsion	http://purl.obolibrary.org/obo/SYMP_0000596	convulsion		A convulsion that is characterized by a tonic spasm (prolonged contraction of the muscles), without loss of consciousness and often associated with hypocalcemia.
http://purl.obolibrary.org/obo/DOID_0060901	lymphoplasmacytic lymphoma	http://purl.obolibrary.org/obo/DOID_707	B-cell lymphoma		A B-cell lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.
http://purl.obolibrary.org/obo/DOID_0060902	Norman-Roberts syndrome	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22.
http://purl.obolibrary.org/obo/DOID_0080180	Zika virus congenital syndrome	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A syndrome that is characterized in neonates by microcephaly, craniofacial disproportion, spasticity, seizures, irritability and brainstem dysfunction including feeding difficulties, ocular abnormalities and findings on neuroimaging such as calcifications, cortical disorders and ventriculomegaly and has_material_basis_in the acquisition of Zika virus (Orthoflavivirus zikaense) infection in utero.
http://purl.obolibrary.org/obo/DOID_0080181	PHARC syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract.
http://purl.obolibrary.org/obo/DOID_0080182	mixed fibrolamellar hepatocellular carcinoma	http://purl.obolibrary.org/obo/DOID_5015	fibrolamellar carcinoma		A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components.
http://purl.obolibrary.org/obo/DOID_0080599	Coronavirus infectious disease	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that has_material_basis_in Coronavirus.
http://purl.obolibrary.org/obo/DOID_0080602	benign teratoma	http://purl.obolibrary.org/obo/DOID_0080601	germ cell benign neoplasm		A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements.
http://purl.obolibrary.org/obo/NCIT_C163032	Botulinum Toxin	http://purl.obolibrary.org/obo/CHEBI_27026	toxin		A biological toxin that is botulinum toxin, caused by a toxin made by a bacterium called Clostridium botulinum.
http://purl.obolibrary.org/obo/DOID_0070368	autosomal recessive chronic granulomatous disease 5	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBC1 gene on chromosome 17q25.
http://purl.obolibrary.org/obo/DOID_0081328	familial hyperinsulinemic hypoglycemia 8	http://purl.obolibrary.org/obo/DOID_13317	hyperinsulinemic hypoglycemia		A hyperinsulinemic hypoglycemia characterized by protein-related hypoglycemia and persistent mild hyperammonemia and that has_material_basis_in homozygous mutation in the SLC25A36 gene on chromosome 3q23.
http://purl.obolibrary.org/obo/DOID_0081331	glycogen storage disease Ic	http://purl.obolibrary.org/obo/DOID_0081329	glycogen storage disease I		A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. G6PT1 is also the site of the defect in glycogen storage disease Ib.
http://purl.obolibrary.org/obo/DOID_0081413	renal cell carcinoma with MiT translocations	http://purl.obolibrary.org/obo/DOID_4450	renal cell carcinoma		A renal cell carcinoma that is characterized by papillary, alveolar and nested growth patterns with clear and eosinophilic cells and that is associated with translocations/gene fusions involving members of the MiT family of transcription factors.
http://purl.obolibrary.org/obo/DOID_0081399	autosomal dominant distal hereditary motor neuronopathy 10	http://purl.obolibrary.org/obo/DOID_0111198	autosomal dominant distal hereditary motor neuronopathy		An autosomal dominant distal hereditary motor neuronopathy that is characterized clinically by length-dependent motor neuropathy primarily affecting the lower limbs and that has_material_basis_in heterozygous mutation in the EMILIN1 gene on chromosome 2p23.
http://purl.obolibrary.org/obo/DOID_0081445	sickle cell disease	http://purl.obolibrary.org/obo/DOID_620	blood protein disease		A blood protein disease that is characterized by chronic hemolytic anemia and intermittent vaso-occlusive events that result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, resulting from the replacement of one of the beta-globin subunits in hemoglobin with atypical hemoglobin molecules called hemoglobin S which can distort red blood cells into a sickle or crescent shape. Sickle cell disease subtypes should include a detailed genotypic description for the hemoglobin molecules (e.g., Hb S/S, Hb S/C, Hb S/β0-thalassemia).
http://purl.obolibrary.org/obo/DOID_0081446	dimethylglycine dehydrogenase deficiency	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder that is characterized by a fish-like odor, chronic fatigue, and increased level of the muscle form of creatine kinase in serum and that has_material_basis_in homozygous mutation in the DMGDH gene on chromosome 5q14.
http://purl.obolibrary.org/obo/DOID_0081447	cone-rod dystrophy 21	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DRAM2 gene on chromosome 1p13.
http://purl.obolibrary.org/obo/DOID_0070553	focal palmoplantar and gingival keratosis	http://purl.obolibrary.org/obo/DOID_3390	palmoplantar keratosis		A palmoplantar keratosis characterized by hyperkeratosis on the weight-bearing areas of the soles, pressure-related areas of the palms, and the labial- and lingual-attached gingiva.
http://purl.obolibrary.org/obo/DOID_0060975	polycystic liver disease 2	http://purl.obolibrary.org/obo/DOID_0050770	polycystic liver disease		A liver disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development that has_material_basis_in heterozygous mutation in the SEC63 gene on chromosome 6q21.
http://purl.obolibrary.org/obo/DOID_0060977	polycystic liver disease 4	http://purl.obolibrary.org/obo/DOID_0050770	polycystic liver disease		A liver disease characterized by adult-onset of liver cysts arising from the bile duct epithelium that has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0070548	primary pigmented nodular adrenocortical disease 3	http://purl.obolibrary.org/obo/DOID_0060280	primary pigmented nodular adrenocortical disease		A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE8B gene on chromosome 5q13.3.
http://purl.obolibrary.org/obo/DOID_0070555	Nagashima-type palmoplantar keratosis	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A nonepidermolytic palmoplantar keratoderma characterized by mild, well-demarcated, diffuse erythematous hyperkeratosis that is nonprogressive after the second decade of life which extends onto the dorsal surfaces of the palms and feet and the Achilles tendon area, with a high frequency of hyperhidrosis on the palms and soles and without flexion contractures or constricting bands that has_material_basis_in homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21.33.
http://purl.obolibrary.org/obo/DOID_0081455	auto-brewery syndrome	http://purl.obolibrary.org/obo/DOID_0060158	acquired metabolic disease		An acquired metabolic disease that is characterized by the endogenous production of ethanol produced through endogenous fermentation by fungi or bacteria in the gastrointestinal system, oral cavity, or urinary system and typically presents with the signs of alcohol intoxication.
http://purl.obolibrary.org/obo/DOID_0081456	bladder fermentation syndrome	http://purl.obolibrary.org/obo/DOID_0060158	acquired metabolic disease		An acquired metabolic disease that is characterized by ethanol fermentation in the bladder and the absence of alcoholic intoxication.
http://purl.obolibrary.org/obo/DOID_0081457	intrathyroid thymic carcinoma	http://purl.obolibrary.org/obo/DOID_3963	thyroid gland carcinoma		A thyroid gland carcinoma composed of groups of carcinoma cells with thymic epithelial differentiation.
http://purl.obolibrary.org/obo/DOID_0081458	thyroid gland cribriform morular carcinoma	http://purl.obolibrary.org/obo/DOID_3963	thyroid gland carcinoma		A thyroid gland carcinoma that is characterized by the presence of cribriform, trabecular, follicular, papillary, and solid growth patterns and squamoid morulae formation.
http://purl.obolibrary.org/obo/DOID_0081461	thyroid gland spindle epithelial tumor with thymus-like elements	http://purl.obolibrary.org/obo/DOID_3963	thyroid gland carcinoma		A thyroid gland carcinoma that is characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells.
http://purl.obolibrary.org/obo/DOID_0060987	preaxial polydactyly I	http://purl.obolibrary.org/obo/DOID_1148	polydactyly		A polydactyly characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux that has_material_basis_in homozygous mutation in the GLI1 gene (165220) on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0070601	autosomal dominant nonsyndromic deafness 37	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21.1.
http://purl.obolibrary.org/obo/DOID_0060993	bent bone dysplasia syndrome 2	http://purl.obolibrary.org/obo/DOID_0080005	bone remodeling disease		A bone remodeling disease characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft that has_material_basis_incompound heterozygous mutation in the LAMA5 gene on chromosome 20q13.
http://purl.obolibrary.org/obo/DOID_0070614	chromosome 11 partial duplication syndrome	http://purl.obolibrary.org/obo/DOID_0060429	chromosomal duplication syndrome		A chromosomal duplication syndrome that has_material_basis_in one or more extra copies of a region of chromosome 11.
http://purl.obolibrary.org/obo/SYMP_0000540	painful respiration	http://purl.obolibrary.org/obo/SYMP_0000514	respiratory system and chest symptom		A respiratory system and chest symptom that is characterized by a feeling of discomfort when breathing in or out.  The pain may be the result of infection, musculoskeletal injury, and heart problems.
http://purl.obolibrary.org/obo/SYMP_0000833	visceral pain	http://purl.obolibrary.org/obo/SYMP_0000099	pain		A pain that is characterized by originating from organ tissues of the thorax, abdomen, or pelvis.  It characterizes as deep, vague, and difficult to locate pain, that radiates away from the affected organ.
http://purl.obolibrary.org/obo/SYMP_0000132	necrosis	http://purl.obolibrary.org/obo/SYMP_0000567	general symptom		Necrosis is a general symptom where death of a portion of tissue differentially affected by local injury (as loss of blood supply, corrosion, burning, or the local lesion of a disease).
http://purl.obolibrary.org/obo/SYMP_0000673	bradykinesia	http://purl.obolibrary.org/obo/SYMP_0000858	hypokinesia		Bradykinesia is a hypokinesia characterized by an extreme slowness in the execution of movements and reflexes.
http://purl.obolibrary.org/obo/SYMP_0000623	acute renal failure	http://purl.obolibrary.org/obo/SYMP_0000731	renal failure		A renal failure that is characterized by a severe and sudden onset of renal failure.
http://purl.obolibrary.org/obo/DOID_0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures	http://purl.obolibrary.org/obo/DOID_1289	neurodegenerative disease		A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and has_symptom seizures, muscle weakness, giat ataxia, impaired speech, hearing loss, and cerebellar atrophy.
http://purl.obolibrary.org/obo/DOID_0070353	cataract 47	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in heterozygous mutation in the SLC16A12 gene on chromosome 10q23, characterized by progressive juvenile cataract with microcornea.
http://purl.obolibrary.org/obo/DOID_0070354	cataract 48	http://purl.obolibrary.org/obo/DOID_83	cataract		A cataract that has_material_basis_in homozygous mutation in the DNMBP gene on chromosome 10q24 and is characterized by infantile or early-childhood cataracts and visual impairment.
http://purl.obolibrary.org/obo/DOID_0070356	visual impairment and progressive phthisis bulbi	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3.
http://purl.obolibrary.org/obo/DOID_0070357	nephrotic syndrome type 20	http://purl.obolibrary.org/obo/DOID_2590	familial nephrotic syndrome		A familial nephrotic syndrome that has_material_basis_in X-linked renal disorder characterized by onset of steroid-resistant nephrotic syndrome and proteinuria in the first years of life in affected males.
http://purl.obolibrary.org/obo/DOID_0080652	calcium oxalate nephrolithiasis	http://purl.obolibrary.org/obo/DOID_585	nephrolithiasis		A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has_material_basis_in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16.
http://purl.obolibrary.org/obo/DOID_0080653	urolithiasis	http://purl.obolibrary.org/obo/DOID_18	urinary system disease		A urinary system disease that is characterized by the formation of stony concretions in the bladder or urinary tract.
http://purl.obolibrary.org/obo/DOID_0080654	uric acid urolithiasis	http://purl.obolibrary.org/obo/DOID_0080653	urolithiasis		An urolithiasis in which the composition of the stones is predominantly urate.
http://purl.obolibrary.org/obo/DOID_0080655	hypophosphatemic nephrolithiasis/osteoporosis	http://purl.obolibrary.org/obo/DOID_557	kidney disease		A kidney disease that is characterized by formation of renal calcium stones or bone demineralization.
http://purl.obolibrary.org/obo/DOID_0080656	45,X/46,XY mixed gonadal dysgenesis	http://purl.obolibrary.org/obo/DOID_14449	mixed gonadal dysgenesis		A mixed gonadal dysgenesis that is characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY.
http://purl.obolibrary.org/obo/DOID_0111742	cerebellar ataxia type 42	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has_material_basis_in heterozygous mutation of the CACNA1G gene on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0111743	cerebellar ataxia type 47	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in the PUM1 gene on chromosome 1p35.2.
http://purl.obolibrary.org/obo/DOID_0111744	cerebellar ataxia type 41	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the TRPC3 gene on chromosome 4q27.
http://purl.obolibrary.org/obo/DOID_0111745	cerebellar ataxia type 43	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2.
http://purl.obolibrary.org/obo/DOID_0111746	cerebellar ataxia type 48	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia characterized by mid-adult onset of gait ataxia and/or cognitive-affective symptoms that has_material_basis_in heterozygous mutation in the STUB1 gene on chromosome 16p13.3.
http://purl.obolibrary.org/obo/DOID_0111747	cerebellar ataxia type 9	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia characterized by adult onset of ataxia and imbalance and demyelinating lesions on brain MRI.
http://purl.obolibrary.org/obo/DOID_0111748	mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1	http://purl.obolibrary.org/obo/DOID_0111143	mitochondrial complex V (ATP synthase) deficiency		A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6.
http://purl.obolibrary.org/obo/DOID_0111749	mitochondrial complex V (ATP synthase) deficiency nuclear type 6	http://purl.obolibrary.org/obo/DOID_0111143	mitochondrial complex V (ATP synthase) deficiency		A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5MD gene on chromosome 10q24.33.
http://purl.obolibrary.org/obo/DOID_0111750	adult-onset ataxia and polyneuropathy	http://purl.obolibrary.org/obo/DOID_700	mitochondrial metabolism disease		A mitochondrial metabolism disease characterized by adult-onset of ataxia and polyneuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6.
http://purl.obolibrary.org/obo/DOID_0111751	mitochondrial nonsyndromic sensorineural deafness	http://purl.obolibrary.org/obo/DOID_10003	sensorineural hearing loss		A sensorineural hearing loss that has_material_basis_in mutation in one of several different mitochondrial genes including; MTRNR1, MTTS1, MTCO1, MTTH, MTND1, and MTTI.
http://purl.obolibrary.org/obo/DOID_0111752	autosomal-mitochondrial sensorineural deafness	http://purl.obolibrary.org/obo/DOID_10003	sensorineural hearing loss		A sensorineural hearing loss characterized by progressive, severe to profound deafness that has_material_basis_in digenic inheritance of mutations in the mitochondrial gene MTRNR1 and an unidentified nuclear gene.
http://purl.obolibrary.org/obo/DOID_0111753	infantile hypertrophic cardiomyopathy	http://purl.obolibrary.org/obo/DOID_11984	hypertrophic cardiomyopathy		A hypertrophic cardiomyopathy characterized by isolated hypertrophic cardiomyopathy and congestive heart failure that has_material_basis_in mutation in the overlapping mitochondrial genes MTATP6 and MTATP8.
http://purl.obolibrary.org/obo/DOID_0111754	Leber plus disease	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities.
http://purl.obolibrary.org/obo/DOID_0111755	Leber hereditary optic neuropathy and dystonia	http://purl.obolibrary.org/obo/DOID_0111754	Leber plus disease		A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has_material_basis_in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I.
http://purl.obolibrary.org/obo/DOID_0111756	Leber hereditary optic neuropathy with demyelinating disease of CNS	http://purl.obolibrary.org/obo/DOID_0111754	Leber plus disease		A Leber plus disease characterized by Leber hereditary optic neuropathy and demyelination in the central nervous system.
http://purl.obolibrary.org/obo/DOID_0111757	Y-linked deafness	http://purl.obolibrary.org/obo/DOID_0050738	Y-linked monogenic disease		A nonsyndromic deafness characterized by a Y-lnked inheritance mode.
http://purl.obolibrary.org/obo/DOID_0111758	Y-linked deafness 2	http://purl.obolibrary.org/obo/DOID_0111757	Y-linked deafness		A Y-linked deafness characterized by male-limited bilateral progressive sensorineural hearing loss of variable severity, with onset in the third to fifth decades of life that has_material_basis_in mutation in the TBL1Y gene on chromosome Yp11.2.
http://purl.obolibrary.org/obo/DOID_0111759	Y-linked deafness 1	http://purl.obolibrary.org/obo/DOID_0111757	Y-linked deafness		A Y-linked deafness characterized by male-limited postlingual progressive sensorineural hearing loss of variable severity, with onset in the first to third decades of life.
http://purl.obolibrary.org/obo/DOID_0111760	46,XX sex reversal	http://purl.obolibrary.org/obo/DOID_14447	gonadal dysgenesis		A gonadal dysgenesis characterized by presentation of an XX karyotype and male external genitalia ranging from normal to ambiguous.
http://purl.obolibrary.org/obo/DOID_0111761	46,XX sex reversal 1	http://purl.obolibrary.org/obo/DOID_0111760	46,XX sex reversal		A 46,XX sex reversal that has_material_basis_in translocation of SRY onto the X chromosome.
http://purl.obolibrary.org/obo/DOID_0111762	46,XX sex reversal 3	http://purl.obolibrary.org/obo/DOID_0111760	46,XX sex reversal		A 46,XX sex reversal that has_material_basis_in genomic duplications or deletions in the SOX3 regulatory region on chromosome Xq26.
http://purl.obolibrary.org/obo/DOID_0111763	46,XX sex reversal 2	http://purl.obolibrary.org/obo/DOID_0111760	46,XX sex reversal		A 46,XX sex reversal that has_material_basis_in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24.
http://purl.obolibrary.org/obo/DOID_0111764	46,XX sex reversal 4	http://purl.obolibrary.org/obo/DOID_0111760	46,XX sex reversal		A 46,XX sex reversal that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3.
http://purl.obolibrary.org/obo/DOID_0111765	X-linked cardiac valvular dysplasia	http://purl.obolibrary.org/obo/DOID_4079	heart valve disease		A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0111766	X-linked VACTERL association	http://purl.obolibrary.org/obo/DOID_14679	VACTERL association		A VACTERL association that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26.3 or the FANCB gene on chromosome Xp22.2.
http://purl.obolibrary.org/obo/DOID_0111767	X-linked thrombocytopenia with beta-thalassemia	http://purl.obolibrary.org/obo/DOID_74	hematopoietic system disease		A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23.
http://purl.obolibrary.org/obo/DOID_0111768	X-linked properdin deficiency	http://purl.obolibrary.org/obo/DOID_626	complement deficiency		A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in PFC on chromosome Xp11.23.
http://purl.obolibrary.org/obo/DOID_0111769	46,XY sex reversal 6	http://purl.obolibrary.org/obo/DOID_14448	46,XY complete gonadal dysgenesis		A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the MAP3K1 gene on chromosome 5q11.2.
http://purl.obolibrary.org/obo/DOID_0111770	46,XY sex reversal 9	http://purl.obolibrary.org/obo/DOID_14448	46,XY complete gonadal dysgenesis		A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the ZFPM2 gene on chromosome 8q23.1.
http://purl.obolibrary.org/obo/DOID_0111771	46,XY sex reversal 4	http://purl.obolibrary.org/obo/DOID_14448	46,XY complete gonadal dysgenesis		A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation but with the absence of other features of the chromosome 9p deletion syndrome that has_material_basis_in heterozygous deletion of a region on chromosome 9p.
http://purl.obolibrary.org/obo/DOID_0111772	46,XY sex reversal 3	http://purl.obolibrary.org/obo/DOID_14448	46,XY complete gonadal dysgenesis		A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3.
http://purl.obolibrary.org/obo/DOID_0111773	46,XY sex reversal 8	http://purl.obolibrary.org/obo/DOID_14448	46,XY complete gonadal dysgenesis		A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1C2 gene on chromosome 10p15.1.
http://purl.obolibrary.org/obo/DOID_0111774	46,XY sex reversal 7	http://purl.obolibrary.org/obo/DOID_14448	46,XY complete gonadal dysgenesis		A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in DHH on chromosome 12q13.12.
http://purl.obolibrary.org/obo/DOID_0111775	46,XY sex reversal 10	http://purl.obolibrary.org/obo/DOID_14448	46,XY complete gonadal dysgenesis		A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous deletion of a region upstream of the SOX9 gene on chromosome 17q24.
http://purl.obolibrary.org/obo/DOID_0111776	46,XY sex reversal 5	http://purl.obolibrary.org/obo/DOID_14448	46,XY complete gonadal dysgenesis		A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the CBX2 gene on chromosome 17q25.3.
http://purl.obolibrary.org/obo/DOID_0111777	46,XY sex reversal 2	http://purl.obolibrary.org/obo/DOID_14448	46,XY complete gonadal dysgenesis		A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous duplication of the NR0B1 gene on chromosome Xp21.2.
http://purl.obolibrary.org/obo/DOID_0111778	46,XY sex reversal 1	http://purl.obolibrary.org/obo/DOID_14448	46,XY complete gonadal dysgenesis		A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous mutation in SRY on chromosome Yp11.2.
http://purl.obolibrary.org/obo/DOID_0111779	X-linked panhypopituitarism	http://purl.obolibrary.org/obo/DOID_0050735	X-linked monogenic disease		A combined pituitary hormone deficiency that has_material_basis_in duplications in the SOX3 gene on chromosome Xq27.1.
http://purl.obolibrary.org/obo/DOID_0111780	TARP syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has_material_basis_in hemizygous mutation in the RBM10 gene on chromosome Xp11.3.
http://purl.obolibrary.org/obo/DOID_0111781	Waisman syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that has_material_basis_in hemizygous or homozygous mutation in the RAB39B gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0111782	otopalatodigital syndrome spectrum disorder	http://purl.obolibrary.org/obo/DOID_0080006	bone development disease		A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0111783	otopalatodigital syndrome type 1	http://purl.obolibrary.org/obo/DOID_0111782	otopalatodigital syndrome spectrum disorder		An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0111784	otopalatodigital syndrome type 2	http://purl.obolibrary.org/obo/DOID_0111782	otopalatodigital syndrome spectrum disorder		An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0111785	frontometaphyseal dysplasia	http://purl.obolibrary.org/obo/DOID_0111782	otopalatodigital syndrome spectrum disorder		An otopalatodigital syndrome spectrum disorder characterized by abnormal ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism, urogenital anomalies, and hearing loss.
http://purl.obolibrary.org/obo/DOID_0111786	frontometaphyseal dysplasia 1	http://purl.obolibrary.org/obo/DOID_0111785	frontometaphyseal dysplasia		A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0111787	frontometaphyseal dysplasia 2	http://purl.obolibrary.org/obo/DOID_0111785	frontometaphyseal dysplasia		A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, urogenital defects and an increased tendency to form keloid scars that has_material_basis_in heterozygous mutation in MAP3K7 on chromosome 6q15.
http://purl.obolibrary.org/obo/DOID_0111788	Melnick-Needles syndrome	http://purl.obolibrary.org/obo/DOID_0111782	otopalatodigital syndrome spectrum disorder		An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in the FLNA gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0111789	Frank-Ter Haar syndrome	http://purl.obolibrary.org/obo/DOID_0111782	otopalatodigital syndrome spectrum disorder		An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the SH3PXD2B gene on chromosome 5q35.1.
http://purl.obolibrary.org/obo/DOID_070355	multisystem proteinopathy	http://purl.obolibrary.org/obo/DOID_231	motor neuron disease		A motor neuron disease that has_material_basis_in some inheritance and affects muscle, bone, and the nervous system.
http://purl.obolibrary.org/obo/DOID_0080690	RASopathy	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.
http://purl.obolibrary.org/obo/DOID_0111866	trichothiodystrophy	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections.
http://purl.obolibrary.org/obo/DOID_0080779	plasmablastic lymphoma	http://purl.obolibrary.org/obo/DOID_0081452	large B-cell lymphoma		A large B-cell lymphoma that is characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells.
http://purl.obolibrary.org/obo/DOID_0080780	acute erythroid leukemia	http://purl.obolibrary.org/obo/DOID_9119	acute myeloid leukemia		An acute myeloid leukemia that is characterized by a predominant immature erythroid population.
http://purl.obolibrary.org/obo/DOID_0112014	congenital megabladder	http://purl.obolibrary.org/obo/DOID_365	bladder disease		A bladder disease characterized by a massively dilated urinary bladder with disruption of the smooth muscle in the wall of the bladder that has_material_basis_in heterozygous mutation in the MYOCD gene on chromosome 17p12.
http://purl.obolibrary.org/obo/DOID_0112015	immunodeficiency 72	http://purl.obolibrary.org/obo/DOID_0111962	combined immunodeficiency		A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies, hepatosplenomegaly, lymphoproliferation and variable immune cell abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the NCKAP1L gene on chromosome 12q13.1-q13.2.
http://purl.obolibrary.org/obo/DOID_0112016	non-syndromic X-linked intellectual disability 2	http://purl.obolibrary.org/obo/DOID_0080009	X-linked dominant disease		A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males and mild intellectual disability in females, in addition males are relatively short with a large head and have a highly arched palate, square face, prominent ears, and large testicular volumes that has_material_basis_in hemizygous or heterozygous mutation in a region on chromosome Xp22.3.
http://purl.obolibrary.org/obo/DOID_0112017	non-syndromic X-linked intellectual disability 73	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males that has_material_basis_in hemizygous mutation in a region on chromosome Xp22.2.
http://purl.obolibrary.org/obo/DOID_0112018	non-syndromic X-linked intellectual disability 104	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in the FRMPD4 gene on chromosome Xp22.2.
http://purl.obolibrary.org/obo/DOID_0112019	non-syndromic X-linked intellectual disability 19	http://purl.obolibrary.org/obo/DOID_0080009	X-linked dominant disease		A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous or heterozygous mutation in the RPS6KA3 gene on chromosome Xp22.12.
http://purl.obolibrary.org/obo/DOID_0112020	non-syndromic X-linked intellectual disability 103	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A non-syndromic X-linked intellectual disability characterized by intellectual disability and facial feature anomalies that has_material_basis_in hemizygous mutation in the KLHL15 gene on chromosome Xp22.11.
http://purl.obolibrary.org/obo/DOID_0112021	non-syndromic X-linked intellectual disability ARX-related	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3.
http://purl.obolibrary.org/obo/DOID_0112022	non-syndromic X-linked intellectual disability 21	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has_material_basis_in hemizygous mutation in the IL1RAPL1 gene on chromosome Xp21.3-p21.2.
http://purl.obolibrary.org/obo/DOID_0112023	non-syndromic X-linked intellectual disability 20	http://purl.obolibrary.org/obo/DOID_0050776	non-syndromic X-linked intellectual disability		A non-syndromic X-linked intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11-q21.
http://purl.obolibrary.org/obo/DOID_0112024	non-syndromic X-linked intellectual disability 58	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and no consistent dysmorphic features that has_material_basis_in hemizygous mutation in the TSPAN7 gene on chromosome Xp11.4.
http://purl.obolibrary.org/obo/DOID_0112025	female-restricted syndromic X-linked intellectual disability 99	http://purl.obolibrary.org/obo/DOID_0080009	X-linked dominant disease		A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in the USP9X gene on chromosome Xp11.4.
http://purl.obolibrary.org/obo/DOID_0112026	non-syndromic X-linked intellectual disability 99	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A non-syndromic X-linked intellectual disability characterized by developmental delay, hypotonia, and variable behavioral abnormalities that has_material_basis_in hemizygous mutation in the USP9X gene on chromosome Xp11.4.
http://purl.obolibrary.org/obo/DOID_0112027	non-syndromic X-linked intellectual disability 14	http://purl.obolibrary.org/obo/DOID_0050776	non-syndromic X-linked intellectual disability		A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and impaired speech that has_material_basis_in mutation in a region on chromosome Xp11.3-q13.3.
http://purl.obolibrary.org/obo/DOID_0112028	non-syndromic X-linked intellectual disability 45	http://purl.obolibrary.org/obo/DOID_0050776	non-syndromic X-linked intellectual disability		A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability during childhood, large and simple ears, relatively large hands, and normal behavior that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21.
http://purl.obolibrary.org/obo/DOID_0112029	non-syndromic X-linked intellectual disability 50	http://purl.obolibrary.org/obo/DOID_0050776	non-syndromic X-linked intellectual disability		A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21.
http://purl.obolibrary.org/obo/DOID_0112030	non-syndromic X-linked intellectual disability 84	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A non-syndromic X-linked intellectual disability characterized by nonspecific intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3-q22.3.
http://purl.obolibrary.org/obo/DOID_0112031	non-syndromic X-linked intellectual disability 89	http://purl.obolibrary.org/obo/DOID_0080009	X-linked dominant disease		A non-syndromic X-linked intellectual disability characterized by severe developmental delay that has_material_basis_in heterozygous mutation in a region on chromosome Xp11.3.
http://purl.obolibrary.org/obo/DOID_0112032	non-syndromic X-linked intellectual disability 92	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3.
http://purl.obolibrary.org/obo/DOID_0112033	non-syndromic X-linked intellectual disability 81	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.2-q12.
http://purl.obolibrary.org/obo/DOID_0112034	non-syndromic X-linked intellectual disability 9	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability that has_material_basis_in hemizygous mutation in the FTSJ1 gene on chromosome Xp11.23.
http://purl.obolibrary.org/obo/DOID_0112035	non-syndromic X-linked intellectual disability 96	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in SYP on chromosome Xp11.23.
http://purl.obolibrary.org/obo/DOID_0112036	non-syndromic X-linked intellectual disability 105	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A non-syndromic X-linked intellectual disability characterized by borderline to moderate intellectual disability, variable poor or absent speech, and behavioral problems that has_material_basis_in hemizygous mutation in the USP27X gene on chromosome Xp11.23.
http://purl.obolibrary.org/obo/DOID_0112037	chromosome Xp11.22 duplication syndrome	http://purl.obolibrary.org/obo/DOID_0050776	non-syndromic X-linked intellectual disability		A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and slow speech development that has_material_basis_in duplication of a small region within chromosome Xp11.22 involving both the HSD17B10 and HUWE1 genes.
http://purl.obolibrary.org/obo/DOID_0112038	non-syndromic X-linked intellectual disability 1	http://purl.obolibrary.org/obo/DOID_0080009	X-linked dominant disease		A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11.22.
http://purl.obolibrary.org/obo/DOID_0112039	non-syndromic X-linked intellectual disability 77	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability, severe speech problems and aggressive behavior that has_material_basis_in hemizygous mutation in a region on chromosome Xq12-q21.3.
http://purl.obolibrary.org/obo/DOID_0112040	non-syndromic X-linked intellectual disability 100	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in the KIF4A gene on chromosome Xq13.1.
http://purl.obolibrary.org/obo/DOID_0112041	non-syndromic X-linked intellectual disability 90	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the DLG3 gene on chromosome Xq13.1.
http://purl.obolibrary.org/obo/DOID_0112042	Tonne-Kalscheuer syndrome	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in the RLIM gene on chromosome Xq13.2.
http://purl.obolibrary.org/obo/DOID_0112043	non-syndromic X-linked intellectual disability 91	http://purl.obolibrary.org/obo/DOID_0080009	X-linked dominant disease		A non-syndromic X-linked intellectual disability characterized by severe intellectual disability that has_material_basis_in heterozygous mutation in a region on chromosome Xq13.3.
http://purl.obolibrary.org/obo/DOID_0112044	non-syndromic X-linked intellectual disability 98	http://purl.obolibrary.org/obo/DOID_0080009	X-linked dominant disease		A non-syndromic X-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, with males generally more severely affected than females that has_material_basis_in heterozygous or hemizygous mutation in NEXMIF on chromosome Xq13.3.
http://purl.obolibrary.org/obo/DOID_0112045	non-syndromic X-linked intellectual disability 93	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and macrocephaly that has_material_basis_in hemizygous mutation in the BRWD3 gene on chromosome Xq21.1.
http://purl.obolibrary.org/obo/DOID_0112046	non-syndromic X-linked intellectual disability 97	http://purl.obolibrary.org/obo/DOID_0050776	non-syndromic X-linked intellectual disability		A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability with speech delay that has_material_basis_in mutation in the ZNF711 gene on chromosome Xq21.1.
http://purl.obolibrary.org/obo/DOID_0112047	non-syndromic X-linked intellectual disability 53	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq22.2-q26.
http://purl.obolibrary.org/obo/DOID_0112048	non-syndromic X-linked intellectual disability 101	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A non-syndromic X-linked intellectual disability characterized by global developmental delay that has_material_basis_in hemizygous mutation in the MID2 gene on chromosome Xq22.3.
http://purl.obolibrary.org/obo/DOID_0112049	non-syndromic X-linked intellectual disability 23	http://purl.obolibrary.org/obo/DOID_0050776	non-syndromic X-linked intellectual disability		A non-syndromic X-linked intellectual disability characterized by decreased verbal but not performance IQs that has_material_basis_in mutation in a region on chromosome Xq23-q24.
http://purl.obolibrary.org/obo/DOID_0112050	non-syndromic X-linked intellectual disability 63	http://purl.obolibrary.org/obo/DOID_0080009	X-linked dominant disease		A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has_material_basis_in heterozygous mutation in the ACSL4 gene on chromosome Xq23.
http://purl.obolibrary.org/obo/DOID_0112051	non-syndromic X-linked intellectual disability 30	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23.
http://purl.obolibrary.org/obo/DOID_0112052	non-syndromic X-linked intellectual disability 82	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq24-q25.
http://purl.obolibrary.org/obo/DOID_0112053	non-syndromic X-linked intellectual disability 88	http://purl.obolibrary.org/obo/DOID_0050776	non-syndromic X-linked intellectual disability		A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in mutation in a region on chromosome Xq24.
http://purl.obolibrary.org/obo/DOID_0112054	non-syndromic X-linked intellectual disability 107	http://purl.obolibrary.org/obo/DOID_0080009	X-linked dominant disease		A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous or hemizygous mutation in CXorf56 on chromosome Xq24.
http://purl.obolibrary.org/obo/DOID_0112055	non-syndromic X-linked intellectual disability 46	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability in most patients that has_material_basis_in hemizygous mutation in a region on chromosome Xq25-q26.
http://purl.obolibrary.org/obo/DOID_0112056	X-linked intellectual disability-short stature-overweight syndrome	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in the THOC2 gene on chromosome Xq25.
http://purl.obolibrary.org/obo/DOID_0112057	non-syndromic X-linked intellectual disability 42	http://purl.obolibrary.org/obo/DOID_0050776	non-syndromic X-linked intellectual disability		A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xq26.
http://purl.obolibrary.org/obo/DOID_0112058	non-syndromic X-linked intellectual disability 41	http://purl.obolibrary.org/obo/DOID_0080009	X-linked dominant disease		A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GDI1 gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0112059	non-syndromic X-linked intellectual disability 72	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in the RAB39B gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0112245	focal segmental glomerulosclerosis 3	http://purl.obolibrary.org/obo/DOID_1312	focal segmental glomerulosclerosis		A focal segmental glomerulosclerosis that has_material_basis_in loss of function mutation in the CD2AP gene on chromosome 6p12.3.
http://purl.obolibrary.org/obo/DOID_0081028	glycogen-rich carcinoma	http://purl.obolibrary.org/obo/DOID_3458	breast adenocarcinoma		A breast adenocarcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen.
http://purl.obolibrary.org/obo/SYMP_0020022	bone conduction hyperacusis	http://purl.obolibrary.org/obo/SYMP_0000392	ear symptom		An ear symptom - need proper definition - placeholder for xref.
http://purl.obolibrary.org/obo/SYMP_0020024	bronchospasm	http://purl.obolibrary.org/obo/SYMP_0000514	respiratory system and chest symptom		A respiratory system and chest symptom that is characterized by constriction of the air passages of the lung (as in asthma) by spasmodic contraction of the bronchial muscles.
http://purl.obolibrary.org/obo/SYMP_0020025	caseation	http://purl.obolibrary.org/obo/SYMP_0000514	respiratory system and chest symptom		A respiratory system and chest symptom that is characterized by necrosis of tissue with conversion of damaged tissue into a soft cheesy substance.
http://purl.obolibrary.org/obo/SYMP_0020027	wet cough	http://purl.obolibrary.org/obo/SYMP_0000614	cough		A cough that is characterized by a production and expectoration (bringing up) of mucus (phlegm) or sputum.
http://purl.obolibrary.org/obo/SYMP_0020029	concentration difficulty	http://purl.obolibrary.org/obo/SYMP_0000482	alteration of consciousness		An alteration of consciousness that is characterized by a decreased ability to focus one's thoughts on something. Concentration difficulties can be related to difficulty staying awake, impulsiveness, intrusive thoughts or concerns, overactivity, or inattention. They can be caused by medical, cognitive or psychological problems, or, may be related to sleep disorders, medications, alcohol, or drugs.
http://purl.obolibrary.org/obo/SYMP_0020030	patches of hair loss with a black dot pattern	http://purl.obolibrary.org/obo/SYMP_0000440	hair loss		A hair symptom that is characterized by patchy hair loss and the presence of comedo-like cadaver hairs, which appear as black dots.
http://purl.obolibrary.org/obo/SYMP_0020031	chest discomfort	http://purl.obolibrary.org/obo/SYMP_0000514	respiratory system and chest symptom		A respiratory system and chest symptom that is characterized by pain, pressure, tightness, or other discomfort originating in or radiating to the chest, which constitutes an important indicator of potentially serious cardiac or cardiovascular disorders.
http://purl.obolibrary.org/obo/SYMP_0020032	chest tightness	http://purl.obolibrary.org/obo/SYMP_0020031	chest discomfort		A chest discomfort that is characterized by any type of pain or discomfort between your upper belly and lower neck.
http://purl.obolibrary.org/obo/SYMP_0020033	paroxysmal cough	http://purl.obolibrary.org/obo/SYMP_0000614	cough		A cough that is characterized by a persistent cough with sudden onset due to difficulty expelling thick mucus from the tracheobronchial tree. This type of cough is associated with diseases such as Pertussis (Whooping Cough).
http://purl.obolibrary.org/obo/DOID_0070358	primary biliary cholangitis 1	http://purl.obolibrary.org/obo/DOID_12236	primary biliary cholangitis		A primary biliary cholangitis that has_material_basis_in variation at the IL12A locus on chromosome 3q25.33.
http://purl.obolibrary.org/obo/DOID_0070359	primary biliary cholangitis 2	http://purl.obolibrary.org/obo/DOID_12236	primary biliary cholangitis		A primary biliary cholangitis that has_material_basis_in variation at the HLA-DQB1 locus on chromosome 6p21.3.
http://purl.obolibrary.org/obo/DOID_0070360	primary biliary cholangitis 3	http://purl.obolibrary.org/obo/DOID_12236	primary biliary cholangitis		A primary biliary cholangitis that has_material_basis_in variation at the IL12RB2 locus on chromosome 1p31.2.
http://purl.obolibrary.org/obo/DOID_0070361	primary biliary cholangitis 4	http://purl.obolibrary.org/obo/DOID_12236	primary biliary cholangitis		A primary biliary cholangitis that has_material_basis_in variation near the IRF5-TNPO3 locus on chromosome 7q32.
http://purl.obolibrary.org/obo/DOID_0070362	primary biliary cholangitis 5	http://purl.obolibrary.org/obo/DOID_12236	primary biliary cholangitis		A primary biliary cholangitis that has_material_basis_in variation at the ZPBP2 locus on chromosome 17q12-q21.
http://purl.obolibrary.org/obo/DOID_0081100	spastic paraplegia with deafness	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that is characterized spastic paraplegia, tremor, cataracts, deafness, short stature, and hypogonadism presenting in the end of the first decade of life.
http://purl.obolibrary.org/obo/DOID_0081101	nonautoimmune hyperthyroidism	http://purl.obolibrary.org/obo/DOID_7998	hyperthyroidism		A hyperthyroidism that is characterized by passive transfer of maternal autoantibodies and that has_material_basis_in heterozygous mutation in the thyroid-stimulating hormone receptor gene (TSHR) on chromosome 14q31.
http://purl.obolibrary.org/obo/DOID_0081102	familial gestational hyperthyroidism	http://purl.obolibrary.org/obo/DOID_7998	hyperthyroidism		A hyperthyroidism that is characterized by promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin and that has_material_basis_in heterozygous mutation in the gene encoding the thyroid-stimulating hormone receptor (TSHR) on chromosome 14q31.
http://purl.obolibrary.org/obo/DOID_0081104	hot water epilepsy	http://purl.obolibrary.org/obo/DOID_2548	reflex epilepsy		A reflex epilepsy that is characterized by seizures triggered by the stimulus of bathing with hot water poured over the head.
http://purl.obolibrary.org/obo/DOID_0081105	keratosis palmoplantaris striata	http://purl.obolibrary.org/obo/DOID_3390	palmoplantar keratosis		A palmoplantar keratosis that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm.
http://purl.obolibrary.org/obo/DOID_0081106	hot water epilepsy 1	http://purl.obolibrary.org/obo/DOID_0081104	hot water epilepsy		A hot water epilepsy that has_material_basis_in a susceptibility locus for hot water epilepsy (HWE1) mapped to chromosome 10q21.3-q22.3.
http://purl.obolibrary.org/obo/DOID_0081107	hot water epilepsy 2	http://purl.obolibrary.org/obo/DOID_0081104	hot water epilepsy		A hot water epilepsy that has_material_basis_in linkage to chromosome 4q24-q28.
http://purl.obolibrary.org/obo/DOID_0081108	keratosis palmoplantaris striata 1	http://purl.obolibrary.org/obo/DOID_0081105	keratosis palmoplantaris striata		A keratosis palmoplantaris striata that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm and that has_material_basis_in heterozygous mutation in the DSG1 gene on chromosome 18q12.
http://purl.obolibrary.org/obo/DOID_0081109	keratosis palmoplantaris striata 2	http://purl.obolibrary.org/obo/DOID_0081105	keratosis palmoplantaris striata		A keratosis palmoplantaris striata that is characterized by linear hyperkeratosis of the palms, which is particularly evident in affected individuals who perform manual labor and that has_material_basis_in heterozygous mutation in the DSP gene on chromosome 6p24.
http://purl.obolibrary.org/obo/DOID_0081110	keratosis palmoplantaris striata 3	http://purl.obolibrary.org/obo/DOID_0081105	keratosis palmoplantaris striata		A keratosis palmoplantaris striata that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0081111	osteosclerotic metaphyseal dysplasia	http://purl.obolibrary.org/obo/DOID_0080019	metaphyseal dysplasia		A metaphyseal dysplasia that is characterized by distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones and that has_material_basis_in homozygous mutation in the LRRK1 gene on chromosome 15q26.
http://purl.obolibrary.org/obo/DOID_0081112	Baraitser-Winter syndrome 1	http://purl.obolibrary.org/obo/DOID_0060229	Baraitser-Winter syndrome		A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome.
http://purl.obolibrary.org/obo/DOID_0081113	Baraitser-Winter syndrome 2	http://purl.obolibrary.org/obo/DOID_0060229	Baraitser-Winter syndrome		A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25.
http://purl.obolibrary.org/obo/DOID_0081114	benign familial infantile seizures 1	http://purl.obolibrary.org/obo/DOID_0060169	benign familial infantile epilepsy		A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in the BFIS1 locus mapped to chromosome 19q.
http://purl.obolibrary.org/obo/DOID_0081115	benign familial infantile seizures 2	http://purl.obolibrary.org/obo/DOID_0060169	benign familial infantile epilepsy		A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the PRRT2 gene on chromosome 16p11.
http://purl.obolibrary.org/obo/DOID_0081116	benign familial infantile seizures 3	http://purl.obolibrary.org/obo/DOID_0060169	benign familial infantile epilepsy		A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutations in the SCN2A gene on chromosome 2q24.
http://purl.obolibrary.org/obo/DOID_0081117	benign familial infantile seizures 4	http://purl.obolibrary.org/obo/DOID_0060169	benign familial infantile epilepsy		A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in an association on chromosome 1p36.12-p35.1.
http://purl.obolibrary.org/obo/DOID_0081118	benign familial infantile seizures 5	http://purl.obolibrary.org/obo/DOID_0060169	benign familial infantile epilepsy		A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the SCN8A gene on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0081120	Graves ophthalmopathy	http://purl.obolibrary.org/obo/DOID_0060030	autoimmune disease of eyes, ear, nose and throat		An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes.
http://purl.obolibrary.org/obo/DOID_0081121	inclusion body myopathy and brain white matter abnormalities	http://purl.obolibrary.org/obo/DOID_0050881	inclusion body myopathy with Paget disease of bone and frontotemporal dementia		An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that is characterized by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging and that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22.
http://purl.obolibrary.org/obo/DOID_0081122	Catel Manzke syndrome	http://purl.obolibrary.org/obo/DOID_0080001	bone disease		A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32.
http://purl.obolibrary.org/obo/DOID_0081123	X-linked mental retardation Gustavson type	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked intellectual disability that is characterized by intrauterine growth retardation, microcephaly, hypotonia, and severe global developmental delay, usually resulting in death in infancy or early childhood that has_material_basis_in hemizygous mutation in the RBMX gene on chromosome Xq26.
http://purl.obolibrary.org/obo/DOID_0081124	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by cranial involvement with macrocrania at birth, brachycephaly, anomalies of middle fossa structures including hypoplasia of corpus callosum, enlargement of septum pellucidum, and dilated lateral ventricles, as well as cortical atrophy and hypodensity of the gray matter and that has_material_basis_in homozygous mutation in the TMCO1 gene on chromosome 1q24.
http://purl.obolibrary.org/obo/DOID_0081125	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2	http://purl.obolibrary.org/obo/DOID_0081072	craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech and that has_material_basis_in homozygous mutation in the RAB5IF gene on chromosome 20q11.
http://purl.obolibrary.org/obo/DOID_0070370	restrictive dermopathy 2	http://purl.obolibrary.org/obo/DOID_0060762	restrictive dermopathy		A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.
http://purl.obolibrary.org/obo/DOID_0070452	xanthinuria type I	http://purl.obolibrary.org/obo/DOID_0060236	xanthinuria		A xanthinuria characterized by isolated deficiency of xanthine dehydrogenase that has_material_basis_in homozygous or compound heterozygous mutation in the XDH gene on chromosome 2p23.
http://purl.obolibrary.org/obo/DOID_0070453	xanthinuria type II	http://purl.obolibrary.org/obo/DOID_0060236	xanthinuria		A xanthinuria characterized by deficiency of xanthine dehydrogenase and aldehyde oxidase that has_material_basis_in homozygous or compound heterozygous mutation in the MOCOS gene on chromosome 18q12.
http://purl.obolibrary.org/obo/DOID_0070454	hereditary spastic paraplegia 70	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia characterized by infantile onset of motor delay and difficulties walking due to spasticity of the lower limbs that has_material_basis_in compound heterozygous mutation in the MARS1 gene on chromosome 12q13.3.
http://purl.obolibrary.org/obo/DOID_0070455	hereditary spastic paraplegia 79A	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia characterized by slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs that has_material_basis_in heterozygous mutation in the UCHL1 gene on chromosome 4p13.
http://purl.obolibrary.org/obo/DOID_0070456	hereditary spastic paraplegia 87	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM63C gene on chromosome 14q24.3.
http://purl.obolibrary.org/obo/DOID_0070457	hereditary spastic paraplegia 88	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that slowly progresses with variable severity that has_material_basis_in heterozygous mutation in the KPNA3 gene on chromosome 13q14.2.
http://purl.obolibrary.org/obo/DOID_0070458	hereditary spastic paraplegia 89	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous mutation in the AMFR gene on chromosome 16q13.
http://purl.obolibrary.org/obo/DOID_0070459	hereditary spastic paraplegia 90A	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in heterozygous mutation in the SPTSSA gene on chromosome 14q13.1.
http://purl.obolibrary.org/obo/DOID_0070460	hereditary spastic paraplegia 90B	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in homozygous mutation in the SPTSSA gene on chromosome 14q13.1.
http://purl.obolibrary.org/obo/DOID_0070461	mitochondrial complex V (ATP synthase) deficiency nuclear type 4A	http://purl.obolibrary.org/obo/DOID_0060333	mitochondrial complex V (ATP synthase) deficiency nuclear type 4		A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by infantile onset of poor feeding and failure to thrive that may resolve spontaneously or progress to include developmental delay with impaired intellectual development and movement abnormalities that has_material_basis_in autosomal dominant inheritance.
http://purl.obolibrary.org/obo/DOID_0070462	mitochondrial complex V (ATP synthase) deficiency nuclear type 4B	http://purl.obolibrary.org/obo/DOID_0060333	mitochondrial complex V (ATP synthase) deficiency nuclear type 4		A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by onset at birth of horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation, followed by fatal encephalopathy that has_material_basis_in autosomal recessive inheritance.
http://purl.obolibrary.org/obo/DOID_0070463	mitochondrial complex V (ATP synthase) deficiency nuclear type 5	http://purl.obolibrary.org/obo/DOID_0111143	mitochondrial complex V (ATP synthase) deficiency		A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous mutation in the ATP5F1D gene on chromosome 19p13.3.
http://purl.obolibrary.org/obo/DOID_0070464	mitochondrial complex V (ATP synthase) deficiency nuclear type 7	http://purl.obolibrary.org/obo/DOID_0111143	mitochondrial complex V (ATP synthase) deficiency		A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5PO gene on chromosome 21q22.11.
http://purl.obolibrary.org/obo/DOID_0070466	carpal tunnel syndrome 1	http://purl.obolibrary.org/obo/DOID_12169	carpal tunnel syndrome		A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12.1.
http://purl.obolibrary.org/obo/DOID_0070467	carpal tunnel syndrome 2	http://purl.obolibrary.org/obo/DOID_12169	carpal tunnel syndrome		A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.11.
http://purl.obolibrary.org/obo/DOID_0081373	disabling pansclerotic morphea	http://purl.obolibrary.org/obo/DOID_8472	localized scleroderma		A localized scleroderma that is characterized by the rapid progression of deep cutaneous fibrosis or pansclerosis that involves the subcutaneous adipose tissue and, occasionally, the fascia, muscles, and bone.
http://purl.obolibrary.org/obo/DOID_0081374	nemaline myopathy 5B	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13, with childhood onset.
http://purl.obolibrary.org/obo/DOID_0081375	nemaline myopathy 5C	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A nemaline myopathy that has_material_basis_in autosomal dominant inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0081377	COX deficiency, benign infantile mitochondrial myopathy	http://purl.obolibrary.org/obo/DOID_3762	cytochrome-c oxidase deficiency disease		A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles.
http://purl.obolibrary.org/obo/DOID_0081428	autosomal recessive distal hereditary motor neuronopathy 9	http://purl.obolibrary.org/obo/DOID_0111197	autosomal recessive distal hereditary motor neuronopathy		An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and atrophy, resulting in gait difficulties and that has_material_basis_in homozygous or compound heterozygous mutation in the COQ7 gene on chromosome 16p12.
http://purl.obolibrary.org/obo/DOID_0070549	primary pigmented nodular adrenocortical disease 4	http://purl.obolibrary.org/obo/DOID_0060280	primary pigmented nodular adrenocortical disease		A primary pigmented nodular adrenocortical disease that has_material_basis_in duplication on chromosome 19p13 that includes the PRKACA gene.
http://purl.obolibrary.org/obo/DOID_0060988	pancreatic agenesis 2	http://purl.obolibrary.org/obo/DOID_0050877	pancreatic agenesis		A pancreatic agenesis that has_material_basis_in homozygous or compound heterozygous mutation in a distal enhancer of the PTF1A gene on chromosome 10p12.
http://purl.obolibrary.org/obo/DOID_0070603	autosomal dominant nonsyndromic deafness 82	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness characterized by onset of rapidly progressive bilateral sensorineural hearing loss usually early in the first decade that has_material_basis_in heterozygous mutation in the ATP2B2 gene on chromosome 3p25.1.
http://purl.obolibrary.org/obo/DOID_0061225	interleukin-1 receptor antagonist deficiency	http://purl.obolibrary.org/obo/DOID_0051000	autoinflammatory disease		An autoinflammatory disease characterized by joint swelling and pain, pustular rash, oral mucosal lesions, and fetal distress that has_material_basis_in homozygous mutation in the IL1RN gene on chromosome 2q14.
http://purl.obolibrary.org/obo/DOID_0070665	lipofibromatosis	http://purl.obolibrary.org/obo/DOID_0060123	connective tissue benign neoplasm		A connective tissue benign neoplasm that is characterized by mature adipose tissue and bundles of cuboidal to spindled fibroblast-like cells. It occurs mainly in children, more often in males, preferentially involves the hands and feet, and may recur locally.
http://purl.obolibrary.org/obo/DOID_0070666	infantile myofibromatosis 1	http://purl.obolibrary.org/obo/DOID_0080109	infantile myofibromatosis		An infantile myofibromatosis that has_material_basis_in heterozygous mutation in the PDGFRB gene on chromosome 5q32.
http://purl.obolibrary.org/obo/DOID_0070667	infantile myofibromatosis 2	http://purl.obolibrary.org/obo/DOID_0080109	infantile myofibromatosis		An infantile myofibromatosis that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/ENVO_00002003	fecal material	http://purl.obolibrary.org/obo/CHEBI_50904	allergen		An excreta material which is composed primarily of feces, an excreta consisting of waste products expelled from an animal's digestive tract through the anus (or cloaca) during defecation.
http://purl.obolibrary.org/obo/ENVO_2000004	algal bloom	http://purl.obolibrary.org/obo/DISDRIV_0000006	chemical driver		A feature that arises from a rapid increase or accumulation in the population of algae (typically microscopic) in an aquatic system.
http://purl.obolibrary.org/obo/SYMP_0000838	breakthrough pain	http://purl.obolibrary.org/obo/SYMP_0000099	pain		A pain that is characterized by occurring with movement and is not controlled by a scheduled pain medication regimen, such that the pain breaks through the current regimen. This is usually referred to in the context of a short and long acting opioid, the short acting opioid being used to treat the breakthrough pain.
http://purl.obolibrary.org/obo/SYMP_0000000	cellulitis	http://purl.obolibrary.org/obo/SYMP_0000891	musculoskeletal system symptom		Cellulitis is a musculoskeletal system symptom characterized as a diffuse and especially subcutaneous inflammation of connective tissue.
http://purl.obolibrary.org/obo/NCIT_C689	Niacin	http://purl.obolibrary.org/obo/CHEBI_33229	vitamin (role)		A water-soluble vitamin belonging to the vitamin B family, which occurs in many animal and plant tissues, with antihyperlipidemic activity. Niacin is converted to its active form niacinamide, which is a component of the coenzymes nicotinamide adenine dinucleotide (NAD) and its phosphate form, NADP. These coenzymes play an important role in tissue respiration and in glycogen, lipid, amino acid, protein, and purine metabolism. Although the exact mechanism of action by which niacin lowers cholesterol is not fully understood, it may act by inhibiting the synthesis of very low density lipoproteins (VLDL), inhibiting the release of free fatty acids from adipose tissue, increasing lipoprotein lipase activity, and reducing the hepatic synthesis of VLDL-C and LDL-C.
http://purl.obolibrary.org/obo/NCIT_C809	Ricin	http://purl.obolibrary.org/obo/CHEBI_27026	toxin		A phytotoxin and lectin comprised of a homodimer of ricin toxin A and B chains derived from the seeds of Ricinus communis, the castor oil plant, with protein synthesis inhibitory activity and extremely high cytotoxicity. Following ingestion, inhalation or injection of ricin, the B chain binds to complex carbohydrates containing either terminal N-acetylgalactosamine or beta-1,4-linked galactose residues on the surface of cells. Subsequently, the ricin A/B heterodimer is internalized and undergoes retrograde transport to the endoplasmic reticulum (ER). In the ER, the A chain, which has enzymatic activity that is sterically hindered by the B chain, is proteolytically released from the heterodimer by protein disulfide isomerase. In the ER, the free A chain has N-glycosidase activity that cleaves 28S rRNA. This enzymatic cleavage disrupts the ribosome, halts protein synthesis, and can lead to cell death. The extreme cytotoxicity of ricin makes it an attractive candidate for artificial fusion with binding proteins to create cell-type-specific toxins.
http://purl.obolibrary.org/obo/ENVO_01001297	cyclone	http://purl.obolibrary.org/obo/ExO_0000007	ecological perturbation		An atmospheric storm during which a large mass of atmospheric gas rotates around a centre of low atmospheric pressure, generating high winds which spiral towards that centre.
http://purl.obolibrary.org/obo/DOID_0040104	toluene 2,4-diisocyanate allergic asthma	http://purl.obolibrary.org/obo/DOID_0040043	toluene meta-diisocyanate allergic asthma		A toluene meta-diisocyanate allergic asthma that has_allergic_trigger toluene 2,4-diisocyanate.
http://purl.obolibrary.org/obo/DOID_0070000	3-methylglutaconic aciduria type 8	http://purl.obolibrary.org/obo/DOID_0060336	3-methylglutaconic aciduria		A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13.
http://purl.obolibrary.org/obo/DOID_0070002	3-methylglutaconic aciduria type 9	http://purl.obolibrary.org/obo/DOID_0060336	3-methylglutaconic aciduria		A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the TIMM50 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0070163	spermatogenic failure 21	http://purl.obolibrary.org/obo/DOID_0112311	male infertility due to acephalic spermatozoa		A male infertility due to acephalic spermatozoa that is characterized by acephalic spermatozoa, reduced sperm number and impaired sperm motility that has_material_basis_in homozygous mutation in the BRDT gene on chromosome 1p22.
http://purl.obolibrary.org/obo/DOID_0070164	spermatogenic failure 2	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure that is characterized by azoospermia or severe oligozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the MSH4 gene on chromosome 1p31.
http://purl.obolibrary.org/obo/DOID_0070165	spermatogenic failure 18	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure that is characterized by sperm flagellar morphological abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH1 gene on chromosome 3p21.
http://purl.obolibrary.org/obo/DOID_0070166	spermatogenic failure 20	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP44 gene on chromosome 3q13.
http://purl.obolibrary.org/obo/DOID_0070167	spermatogenic failure 6	http://purl.obolibrary.org/obo/DOID_0112312	male infertility due to globozoospermia		A male infertility characterized by autosomal recessive inheritance of globozoospermia that has_material_basis_in mutation in the SPATA16 gene on chromosome 3q26.
http://purl.obolibrary.org/obo/DOID_0070168	spermatogenic failure 3	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive asthenozoospermia that has_material_basis_in heterozygous mutation in the SLC26A8 gene on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0070169	spermatogenic failure 8	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or moderate to severe oligozoospermia that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.
http://purl.obolibrary.org/obo/DOID_0070170	spermatogenic failure 19	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP43 gene on chromosome 10q25.
http://purl.obolibrary.org/obo/DOID_0070171	spermatogenic failure 12	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or severe oligoasthenoteratozoospermia and in some cases a Sertolic cell-only phenotype that has_material_basis_in heterozygous mutation in the NANOS1 gene on chromosome 10q26.
http://purl.obolibrary.org/obo/DOID_0070172	spermatogenic failure 15	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia that has_material_basis_in mutation in the SYCE1 gene on chromosome 10q26.
http://purl.obolibrary.org/obo/DOID_0070173	spermatogenic failure 7	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure that is characterized by autosomal recessive inheritance of impaired or absent sperm motility and increased incidence of morphologically abnormal sperm that has_material_basis_in mutation in the CATSPER1 gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0070174	spermatogenic failure 17	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure that is characterized by autosomal recessive inheritance of oocyte activation failure following intracytoplasmic sperm injection that has_material_basis_in mutation in the PLCZ1 gene on chromosome 12p12.
http://purl.obolibrary.org/obo/DOID_0070176	spermatogenic failure 4	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has_material_basis_in mutation in the SYCP3 gene on chromosome 12q23.
http://purl.obolibrary.org/obo/DOID_0070177	spermatogenic failure 22	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatocyte maturation arrest resulting in azoospermia that has_material_basis_in mutation in the MEIOB gene on chromosome 16p13.
http://purl.obolibrary.org/obo/DOID_0070178	spermatogenic failure 10	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure that is characterized by defects in the annulus or the ring-like structure located at the distal end of the flagellar midpiece the autosomal dominant inheritance of that has_material_basis_in mutation in the SEPT12 gene on chromosome 16p13.
http://purl.obolibrary.org/obo/DOID_0070179	spermatogenic failure 14	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure that is characterized by male infertility due to azoospermia with sperm maturation arrest in the spermatid stage that has_material_basis_in mutation in the ZMYND15 gene on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0070180	spermatogenic failure 11	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure that is characterized by autosomal dominant inheritance of oligozoospermia and in some cases teratozoospermia and/or moderate asthenozoospermia that has_material_basis_in mutation in the KLHL10 gene on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0070181	spermatogenic failure 23	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure that is characterized by autosomal recessive inheritance of nonobstructive azoospermia that has_material_basis_in mutation in the TEX14 gene on chromosome 17q23.
http://purl.obolibrary.org/obo/DOID_0070182	spermatogenic failure 13	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia or oligozoospermia that has_material_basis_in mutation in the TAF4B gene on chromosome 18q11.
http://purl.obolibrary.org/obo/DOID_0070183	spermatogenic failure 5	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure that is characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0070184	spermatogenic failure 16	http://purl.obolibrary.org/obo/DOID_0112311	male infertility due to acephalic spermatozoa		A male infertility due to acephalic spermatozoa that is characterized by autosomal recessive inheritance of acephalic spermatozoa that has_material_basis_in mutation in the SUN5 gene on chromosome 20q11.
http://purl.obolibrary.org/obo/DOID_0070185	X-linked spermatogenic failure 2	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure that is characterized by meiotic arrest of spermatocytes and mixed testicular atrophy that has_material_basis_in X-linked inheritance of mutation in the TEX11 gene on chromosome Xq13.
http://purl.obolibrary.org/obo/DOID_0070186	Y-linked spermatogenic failure 1	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A Sertoli cell-only syndrome that has_material_basis_in deletions in the Yq11 chromosomal region.
http://purl.obolibrary.org/obo/DOID_0070187	Y-linked spermatogenic failure 2	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure that is characterized by nonobstroctive azoospermia or oligozoospermia that has_material_basis_in interstitial deletions on the Yq11.221 chromosomal region.
http://purl.obolibrary.org/obo/DOID_0070188	spermatogenic failure 1	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatogenic failure resulting from meiotic defects.
http://purl.obolibrary.org/obo/DOID_0070189	X-linked spermatogenic failure 1	http://purl.obolibrary.org/obo/DOID_0050457	Sertoli cell-only syndrome		A Sertoli cell-only syndrome characterized by X-linked inheritance.
http://purl.obolibrary.org/obo/DOID_0070191	autosomal recessive chronic granulomatous disease 2	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25.
http://purl.obolibrary.org/obo/DOID_0070192	autosomal recessive chronic granulomatous disease 1	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23.
http://purl.obolibrary.org/obo/DOID_0070193	autosomal recessive chronic granulomatous disease 4	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2.
http://purl.obolibrary.org/obo/DOID_0070194	autosomal recessive chronic granulomatous disease 3	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12.
http://purl.obolibrary.org/obo/DOID_0070195	X-linked chronic granulomatous disease	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A chronic granulomatous disease characterized by X-linked inheritance that has_material_basis_in mutation in the CYBB gene on chromosome Xp21.1-p11.4.
http://purl.obolibrary.org/obo/DOID_0070196	infantile-onset distal myopathy	http://purl.obolibrary.org/obo/DOID_11720	distal myopathy		A distal myopathy that is characterized by autosomal dominant inheritance, infantile onset and progressive disease development.
http://purl.obolibrary.org/obo/DOID_0070197	distal myopathy 1	http://purl.obolibrary.org/obo/DOID_11720	distal myopathy		A distal myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.2.
http://purl.obolibrary.org/obo/DOID_0070198	Miyoshi muscular dystrophy	http://purl.obolibrary.org/obo/DOID_11720	distal myopathy		A distal myopathy that is characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood.
http://purl.obolibrary.org/obo/DOID_0070199	Miyoshi muscular dystrophy 1	http://purl.obolibrary.org/obo/DOID_0070198	Miyoshi muscular dystrophy		A Miyoshi muscular dystrophy that has_material_basis_in mutation in the DYSF gene on chromosome 2p13.
http://purl.obolibrary.org/obo/DOID_0070200	Miyoshi muscular dystrophy 2	http://purl.obolibrary.org/obo/DOID_0070198	Miyoshi muscular dystrophy		A Miyoshi muscular dystrophy characterized by asymmetric presentation of muscle weakness and atrophy that has_material_basis_in a locus on chromosome 10.
http://purl.obolibrary.org/obo/DOID_0070201	Miyoshi muscular dystrophy 3	http://purl.obolibrary.org/obo/DOID_0070198	Miyoshi muscular dystrophy		A Miyoshi muscular dystrophy that has_material_basis_in mutation in the ANO5 gene on chromosome 11p14.
http://purl.obolibrary.org/obo/DOID_0070202	familial partial lipodystrophy type 2	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.
http://purl.obolibrary.org/obo/DOID_0070203	familial partial lipodystrophy type 5	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CIDEC gene on chromosome 3p25.
http://purl.obolibrary.org/obo/DOID_0070204	familial partial lipodystrophy type 3	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the PPARG gene on chromosome 3p25.
http://purl.obolibrary.org/obo/DOID_0070205	familial partial lipodystrophy type 4	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26.
http://purl.obolibrary.org/obo/DOID_0070206	familial partial lipodystrophy type 6	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0070207	familial partial lipodystrophy type 1	http://purl.obolibrary.org/obo/DOID_0050440	familial partial lipodystrophy		A familial partial lipodystrophy characterized by loss of adipose tissue that is confined to the extremities with normal or increased fat in other areas of the body.
http://purl.obolibrary.org/obo/DOID_0070208	hereditary lymphedema IC	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42.
http://purl.obolibrary.org/obo/DOID_0070209	hereditary lymphedema ID	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the VEGFC gene on chromosome 4q34.
http://purl.obolibrary.org/obo/DOID_0070210	hereditary lymphedema IA	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the FLT4 gene on chromosome 5q35.
http://purl.obolibrary.org/obo/DOID_0070211	hereditary lymphedema IB	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in the chromosomal region 6q16.2-q22.1.
http://purl.obolibrary.org/obo/DOID_0070212	hereditary lymphedema I	http://purl.obolibrary.org/obo/DOID_0050580	hereditary lymphedema		A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood.
http://purl.obolibrary.org/obo/DOID_0070213	hereditary lymphedema II	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A hereditary lymphedema characterized by onset around puberty of chronic lymphedema particularly in the lower limbs with an apparent autosomal dominant pattern of inheritance.
http://purl.obolibrary.org/obo/DOID_0070214	familial hyperinsulinemic hypoglycemia 7	http://purl.obolibrary.org/obo/DOID_13317	hyperinsulinemic hypoglycemia		A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2.
http://purl.obolibrary.org/obo/DOID_0070215	familial hyperinsulinemic hypoglycemia 4	http://purl.obolibrary.org/obo/DOID_13317	hyperinsulinemic hypoglycemia		A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25.
http://purl.obolibrary.org/obo/DOID_0070216	familial hyperinsulinemic hypoglycemia 3	http://purl.obolibrary.org/obo/DOID_13317	hyperinsulinemic hypoglycemia		A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13.
http://purl.obolibrary.org/obo/DOID_0070217	familial hyperinsulinemic hypoglycemia 6	http://purl.obolibrary.org/obo/DOID_13317	hyperinsulinemic hypoglycemia		A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3.
http://purl.obolibrary.org/obo/DOID_0070218	familial hyperinsulinemic hypoglycemia 2	http://purl.obolibrary.org/obo/DOID_13317	hyperinsulinemic hypoglycemia		A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1.
http://purl.obolibrary.org/obo/DOID_0070219	familial hyperinsulinemic hypoglycemia 1	http://purl.obolibrary.org/obo/DOID_13317	hyperinsulinemic hypoglycemia		A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15.
http://purl.obolibrary.org/obo/DOID_0070220	familial hyperinsulinemic hypoglycemia 5	http://purl.obolibrary.org/obo/DOID_13317	hyperinsulinemic hypoglycemia		A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0070221	progressive familial intrahepatic cholestasis	http://purl.obolibrary.org/obo/DOID_1852	intrahepatic cholestasis		An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.
http://purl.obolibrary.org/obo/DOID_0070222	progressive familial intrahepatic cholestasis 2	http://purl.obolibrary.org/obo/DOID_0070221	progressive familial intrahepatic cholestasis		A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31.
http://purl.obolibrary.org/obo/DOID_0070223	progressive familial intrahepatic cholestasis 3	http://purl.obolibrary.org/obo/DOID_0070221	progressive familial intrahepatic cholestasis		A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12.
http://purl.obolibrary.org/obo/DOID_0070224	progressive familial intrahepatic cholestasis 4	http://purl.obolibrary.org/obo/DOID_0070221	progressive familial intrahepatic cholestasis		A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21.
http://purl.obolibrary.org/obo/DOID_0070225	progressive familial intrahepatic cholestasis 5	http://purl.obolibrary.org/obo/DOID_0070221	progressive familial intrahepatic cholestasis		A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q.
http://purl.obolibrary.org/obo/DOID_0070226	progressive familial intrahepatic cholestasis 1	http://purl.obolibrary.org/obo/DOID_0070221	progressive familial intrahepatic cholestasis		A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21.
http://purl.obolibrary.org/obo/DOID_0070227	intrahepatic cholestasis of pregnancy	http://purl.obolibrary.org/obo/DOID_1852	intrahepatic cholestasis		An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery.
http://purl.obolibrary.org/obo/DOID_0070228	intrahepatic cholestasis of pregnancy 1	http://purl.obolibrary.org/obo/DOID_0070227	intrahepatic cholestasis of pregnancy		An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21.
http://purl.obolibrary.org/obo/DOID_0070229	intrahepatic cholestasis of pregnancy 3	http://purl.obolibrary.org/obo/DOID_0070227	intrahepatic cholestasis of pregnancy		An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.
http://purl.obolibrary.org/obo/DOID_0070230	benign recurrent intrahepatic cholestasis	http://purl.obolibrary.org/obo/DOID_1852	intrahepatic cholestasis		An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction.
http://purl.obolibrary.org/obo/DOID_0070231	benign recurrent intrahepatic cholestasis 1	http://purl.obolibrary.org/obo/DOID_0070230	benign recurrent intrahepatic cholestasis		A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q.
http://purl.obolibrary.org/obo/DOID_0070232	benign recurrent intrahepatic cholestasis 2	http://purl.obolibrary.org/obo/DOID_0070230	benign recurrent intrahepatic cholestasis		A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31.
http://purl.obolibrary.org/obo/DOID_0070233	Loeys-Dietz syndrome 4	http://purl.obolibrary.org/obo/DOID_0050466	Loeys-Dietz syndrome		A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41.
http://purl.obolibrary.org/obo/DOID_0070234	Loeys-Dietz syndrome 2	http://purl.obolibrary.org/obo/DOID_0050466	Loeys-Dietz syndrome		A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24.
http://purl.obolibrary.org/obo/DOID_0070235	Loeys-Dietz syndrome 1	http://purl.obolibrary.org/obo/DOID_0050466	Loeys-Dietz syndrome		A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22.
http://purl.obolibrary.org/obo/DOID_0070236	Loeys-Dietz syndrome 5	http://purl.obolibrary.org/obo/DOID_0050466	Loeys-Dietz syndrome		A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24.
http://purl.obolibrary.org/obo/DOID_0070237	Loeys-Dietz syndrome 3	http://purl.obolibrary.org/obo/DOID_0050466	Loeys-Dietz syndrome		A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q.
http://purl.obolibrary.org/obo/DOID_0070238	primary coenzyme Q10 deficiency 1	http://purl.obolibrary.org/obo/DOID_0050730	coenzyme Q10 deficiency disease		A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23.
http://purl.obolibrary.org/obo/DOID_0070239	primary coenzyme Q10 deficiency 2	http://purl.obolibrary.org/obo/DOID_0050730	coenzyme Q10 deficiency disease		A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1.
http://purl.obolibrary.org/obo/DOID_0070240	primary coenzyme Q10 deficiency 3	http://purl.obolibrary.org/obo/DOID_0050730	coenzyme Q10 deficiency disease		A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS2 gene on chromosome 6q21.
http://purl.obolibrary.org/obo/DOID_0070241	primary coenzyme Q10 deficiency 4	http://purl.obolibrary.org/obo/DOID_0050730	coenzyme Q10 deficiency disease		A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the ADCK3 gene on chromosome 1q42.13.
http://purl.obolibrary.org/obo/DOID_0070242	primary coenzyme Q10 deficiency 5	http://purl.obolibrary.org/obo/DOID_0050730	coenzyme Q10 deficiency disease		A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21.
http://purl.obolibrary.org/obo/DOID_0070243	primary coenzyme Q10 deficiency 6	http://purl.obolibrary.org/obo/DOID_0050730	coenzyme Q10 deficiency disease		A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3.
http://purl.obolibrary.org/obo/DOID_0070244	primary coenzyme Q10 deficiency 7	http://purl.obolibrary.org/obo/DOID_0050730	coenzyme Q10 deficiency disease		A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11.
http://purl.obolibrary.org/obo/DOID_0070245	primary coenzyme Q10 deficiency 8	http://purl.obolibrary.org/obo/DOID_0050730	coenzyme Q10 deficiency disease		A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ7 gene on chromosome 16p12.3.
http://purl.obolibrary.org/obo/DOID_0070246	X-linked Emery-Dreifuss muscular dystrophy 1	http://purl.obolibrary.org/obo/DOID_11726	Emery-Dreifuss muscular dystrophy		An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0070247	autosomal dominant Emery-Dreifuss muscular dystrophy 2	http://purl.obolibrary.org/obo/DOID_11726	Emery-Dreifuss muscular dystrophy		An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22.
http://purl.obolibrary.org/obo/DOID_0070248	autosomal recessive Emery-Dreifuss muscular dystrophy 3	http://purl.obolibrary.org/obo/DOID_11726	Emery-Dreifuss muscular dystrophy		An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22.
http://purl.obolibrary.org/obo/DOID_0070249	autosomal dominant Emery-Dreifuss muscular dystrophy 4	http://purl.obolibrary.org/obo/DOID_11726	Emery-Dreifuss muscular dystrophy		An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2.
http://purl.obolibrary.org/obo/DOID_0070250	autosomal dominant Emery-Dreifuss muscular dystrophy 5	http://purl.obolibrary.org/obo/DOID_11726	Emery-Dreifuss muscular dystrophy		An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2.
http://purl.obolibrary.org/obo/DOID_0070251	X-linked Emery-Dreifuss muscular dystrophy 6	http://purl.obolibrary.org/obo/DOID_11726	Emery-Dreifuss muscular dystrophy		An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3.
http://purl.obolibrary.org/obo/DOID_0070252	autosomal dominant Emery-Dreifuss muscular dystrophy 7	http://purl.obolibrary.org/obo/DOID_11726	Emery-Dreifuss muscular dystrophy		An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the TMEM43 gene on chromosome 3p25.1.
http://purl.obolibrary.org/obo/DOID_0070253	congenital disorder of glycosylation type IIa	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MGAT2 gene on chromosome 14q21.3.
http://purl.obolibrary.org/obo/DOID_0070254	congenital disorder of glycosylation type IIb	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1.
http://purl.obolibrary.org/obo/DOID_0070255	congenital disorder of glycosylation type IIc	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2.
http://purl.obolibrary.org/obo/DOID_0070256	congenital disorder of glycosylation type IId	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the B4GALT1 gene on chromosome 9p21.1.
http://purl.obolibrary.org/obo/DOID_0070257	congenital disorder of glycosylation type IIe	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2.
http://purl.obolibrary.org/obo/DOID_0070258	congenital disorder of glycosylation type IIf	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15.
http://purl.obolibrary.org/obo/DOID_0070259	congenital disorder of glycosylation type IIg	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG1 gene on chromosome 17q25.1.
http://purl.obolibrary.org/obo/DOID_0070260	congenital disorder of glycosylation type IIh	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1.
http://purl.obolibrary.org/obo/DOID_0070261	congenital disorder of glycosylation type IIi	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3.
http://purl.obolibrary.org/obo/DOID_0070262	congenital disorder of glycosylation type IIj	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG4 gene on chromosome 16q22.1.
http://purl.obolibrary.org/obo/DOID_0070263	congenital disorder of glycosylation type IIk	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12.
http://purl.obolibrary.org/obo/DOID_0070264	congenital disorder of glycosylation type IIl	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG6 gene on chromosome 13q14.11.
http://purl.obolibrary.org/obo/DOID_0070265	congenital disorder of glycosylation type IIm	http://purl.obolibrary.org/obo/DOID_0080009	X-linked dominant disease		A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23.
http://purl.obolibrary.org/obo/DOID_0070266	congenital disorder of glycosylation type IIn	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC39A8 gene on chromosome 4q24.
http://purl.obolibrary.org/obo/DOID_0070267	congenital disorder of glycosylation type IIo	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1.
http://purl.obolibrary.org/obo/DOID_0070268	congenital disorder of glycosylation type IIp	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM199 gene on chromosome 17q11.2.
http://purl.obolibrary.org/obo/DOID_0070269	congenital disorder of glycosylation type IIq	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG2 gene on chromosome 1q42.2.
http://purl.obolibrary.org/obo/DOID_0070270	hereditary nonpolyposis colorectal cancer type 8	http://purl.obolibrary.org/obo/DOID_3883	Lynch syndrome		A Lynch syndrome that has_material_basis_in heterozygous deletion of the 3' part of the EPCAM gene and intergenic regions adjacent to the MSH2 gene on chromosome 2p21. This results in transcriptional read-through and silencing of MSH2 in tissues expressing EPCAM.
http://purl.obolibrary.org/obo/DOID_0070271	Lynch syndrome 1	http://purl.obolibrary.org/obo/DOID_3883	Lynch syndrome		A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16.
http://purl.obolibrary.org/obo/DOID_0070272	hereditary nonpolyposis colorectal cancer type 5	http://purl.obolibrary.org/obo/DOID_3883	Lynch syndrome		A Lynch syndrome that has_material_basis_in heterozygous mutation in the MSH6 gene on chromosome 2p16.
http://purl.obolibrary.org/obo/DOID_0070273	hereditary nonpolyposis colorectal cancer type 6	http://purl.obolibrary.org/obo/DOID_3883	Lynch syndrome		A Lynch syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p22.
http://purl.obolibrary.org/obo/DOID_0070274	hereditary nonpolyposis colorectal cancer type 2	http://purl.obolibrary.org/obo/DOID_3883	Lynch syndrome		A Lynch syndrome that has_material_basis_in heterozygous mutation in the MLH1 gene on chromosome 3p22.2.
http://purl.obolibrary.org/obo/DOID_0070275	hereditary nonpolyposis colorectal cancer type 4	http://purl.obolibrary.org/obo/DOID_3883	Lynch syndrome		A Lynch syndrome that has_material_basis_in heterozygous mutation in the PMS2 gene on chromosome 7p22.
http://purl.obolibrary.org/obo/DOID_0070276	hereditary nonpolyposis colorectal cancer type 7	http://purl.obolibrary.org/obo/DOID_3883	Lynch syndrome		A Lynch syndrome that has_material_basis_in mutation in the MLH3 gene on chromosome 14q24.3.
http://purl.obolibrary.org/obo/DOID_0070277	primary autosomal recessive microcephaly 15	http://purl.obolibrary.org/obo/DOID_0070296	autosomal recessive primary microcephaly		A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34.
http://purl.obolibrary.org/obo/DOID_0070278	primary autosomal recessive microcephaly 7	http://purl.obolibrary.org/obo/DOID_0070296	autosomal recessive primary microcephaly		A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the STIL gene on chromosome 1p33.
http://purl.obolibrary.org/obo/DOID_0070279	primary autosomal recessive microcephaly 14	http://purl.obolibrary.org/obo/DOID_0070296	autosomal recessive primary microcephaly		A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21.
http://purl.obolibrary.org/obo/DOID_0070280	primary autosomal recessive microcephaly 5	http://purl.obolibrary.org/obo/DOID_0070296	autosomal recessive primary microcephaly		A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31.
http://purl.obolibrary.org/obo/DOID_0070281	primary autosomal recessive microcephaly 19	http://purl.obolibrary.org/obo/DOID_0070296	autosomal recessive primary microcephaly		A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23.
http://purl.obolibrary.org/obo/DOID_0070282	primary autosomal recessive microcephaly 8	http://purl.obolibrary.org/obo/DOID_0070296	autosomal recessive primary microcephaly		A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q.
http://purl.obolibrary.org/obo/DOID_0070283	primary autosomal recessive microcephaly 13	http://purl.obolibrary.org/obo/DOID_0070296	autosomal recessive primary microcephaly		A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24.
http://purl.obolibrary.org/obo/DOID_0070284	primary autosomal recessive microcephaly 12	http://purl.obolibrary.org/obo/DOID_0070296	autosomal recessive primary microcephaly		A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK6 gene on chromosome 7q21.
http://purl.obolibrary.org/obo/DOID_0070285	primary autosomal recessive microcephaly 1	http://purl.obolibrary.org/obo/DOID_0070296	autosomal recessive primary microcephaly		A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23.
http://purl.obolibrary.org/obo/DOID_0070286	primary autosomal recessive microcephaly 3	http://purl.obolibrary.org/obo/DOID_0070296	autosomal recessive primary microcephaly		A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33.
http://purl.obolibrary.org/obo/DOID_0070287	primary autosomal recessive microcephaly 11	http://purl.obolibrary.org/obo/DOID_0070296	autosomal recessive primary microcephaly		A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13.
http://purl.obolibrary.org/obo/DOID_0070288	primary autosomal recessive microcephaly 17	http://purl.obolibrary.org/obo/DOID_0070296	autosomal recessive primary microcephaly		A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24.
http://purl.obolibrary.org/obo/DOID_0070289	primary autosomal recessive microcephaly 16	http://purl.obolibrary.org/obo/DOID_0070296	autosomal recessive primary microcephaly		A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ANKLE2 gene on chromosome 12q24.
http://purl.obolibrary.org/obo/DOID_0070290	primary autosomal recessive microcephaly 6	http://purl.obolibrary.org/obo/DOID_0070296	autosomal recessive primary microcephaly		A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12.
http://purl.obolibrary.org/obo/DOID_0070291	primary autosomal recessive microcephaly 4	http://purl.obolibrary.org/obo/DOID_0070296	autosomal recessive primary microcephaly		A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KNL1 gene on chromosome 15q15.
http://purl.obolibrary.org/obo/DOID_0070292	primary autosomal recessive microcephaly 9	http://purl.obolibrary.org/obo/DOID_0070296	autosomal recessive primary microcephaly		A primary autosomal recessive microcephaly characterized by head circumference more than 3 standard deviations below the age- and sex-matched population mean and impaired intellectual development, with no other associated malformations and with no apparent etiology that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21.
http://purl.obolibrary.org/obo/DOID_0070293	primary autosomal recessive microcephaly 2 with or without cortical malformations	http://purl.obolibrary.org/obo/DOID_0070296	autosomal recessive primary microcephaly		A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0070294	primary autosomal recessive microcephaly 10	http://purl.obolibrary.org/obo/DOID_0070296	autosomal recessive primary microcephaly		A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ZNF335 gene on chromosome 20q13.
http://purl.obolibrary.org/obo/DOID_0070295	primary autosomal dominant microcephaly 18	http://purl.obolibrary.org/obo/DOID_0061100	autosomal dominant primary microcephaly		A primary microcephaly that has_material_basis_in heterozygous mutation in the WDFY3 gene on chromosome 4q21.
http://purl.obolibrary.org/obo/DOID_0070296	autosomal recessive primary microcephaly	http://purl.obolibrary.org/obo/DOID_0070297	primary microcephaly		A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation.
http://purl.obolibrary.org/obo/DOID_0070297	primary microcephaly	http://purl.obolibrary.org/obo/DOID_10907	microcephaly		A microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation.
http://purl.obolibrary.org/obo/DOID_0070298	multiple epiphyseal dysplasia 2	http://purl.obolibrary.org/obo/DOID_0070305	multiple epiphyseal dysplasia due to collagen 9 anomaly		A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34.
http://purl.obolibrary.org/obo/DOID_0070299	multiple epiphyseal dysplasia 5	http://purl.obolibrary.org/obo/DOID_12721	multiple epiphyseal dysplasia		A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24.
http://purl.obolibrary.org/obo/DOID_0070300	multiple epiphyseal dysplasia 4	http://purl.obolibrary.org/obo/DOID_12721	multiple epiphyseal dysplasia		A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32.
http://purl.obolibrary.org/obo/DOID_0070301	multiple epiphyseal dysplasia 6	http://purl.obolibrary.org/obo/DOID_0070305	multiple epiphyseal dysplasia due to collagen 9 anomaly		A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13.
http://purl.obolibrary.org/obo/DOID_0070302	multiple epiphyseal dysplasia 7	http://purl.obolibrary.org/obo/DOID_12721	multiple epiphyseal dysplasia		A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the CANT1 gene on chromosome 17q25.
http://purl.obolibrary.org/obo/DOID_0070303	multiple epiphyseal dysplasia 1	http://purl.obolibrary.org/obo/DOID_12721	multiple epiphyseal dysplasia		A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0070304	multiple epiphyseal dysplasia 3	http://purl.obolibrary.org/obo/DOID_0070305	multiple epiphyseal dysplasia due to collagen 9 anomaly		A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13.
http://purl.obolibrary.org/obo/DOID_0070305	multiple epiphyseal dysplasia due to collagen 9 anomaly	http://purl.obolibrary.org/obo/DOID_12721	multiple epiphyseal dysplasia		A multiple epiphyseal dysplasia that has_material_basis_in mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3).
http://purl.obolibrary.org/obo/DOID_0070306	post-cardiac arrest syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by four main components: post-cardiac arrest brain injury, post-cardiac arrest myocardial dysfunction, systemic ischemia reperfusion response, and persistent precipitating pathologies.
http://purl.obolibrary.org/obo/DOID_0070307	craniolenticulosutural dysplasia	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects.
http://purl.obolibrary.org/obo/DOID_0070308	rippling muscle disease 1	http://purl.obolibrary.org/obo/DOID_66	muscle tissue disease		A muscle tissue disease characterized by electrically silent contractions of the skeletal muscles in response to mechanical stimuli. It has_material_basis_in mutation in the gene localized to 1q41 at the distal end of the long arm of chromosome 1, has_symptom characteristic lateral rolling movement of muscle, has_symptom muscle cramps, has_symptom muscle pain, has_symptom muscle stiffness during or following exercise.
http://purl.obolibrary.org/obo/DOID_0070309	absence epilepsy	http://purl.obolibrary.org/obo/DOID_0050701	electroclinical syndrome		An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram.
http://purl.obolibrary.org/obo/DOID_0070310	drug-induced hearing loss	http://purl.obolibrary.org/obo/DOID_0050563	nonsyndromic deafness		A nonsyndromic deafness that is characterized by cochlear or vestibular dysfunction resulting in loss of hearing caused by drug ototoxicity.
http://purl.obolibrary.org/obo/DOID_0070311	oligoasthenoteratozoospermia	http://purl.obolibrary.org/obo/DOID_12336	male infertility		A form of male infertility that is characterized by a combination of low number or oligozoospermia, poor motility or asthenozoospermia, and abnormal shape or teratozoospermia of sperms. OAT is the most common cause of male subfertility.
http://purl.obolibrary.org/obo/DOID_0070314	obstructive nephropathy	http://purl.obolibrary.org/obo/DOID_557	kidney disease		A kidney disease characterized by kidney damage and dysfunction resulting from urinary tract obstruction.
http://purl.obolibrary.org/obo/DOID_0070315	hypoplastic right heart syndrome	http://purl.obolibrary.org/obo/DOID_1682	congenital heart disease		A congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect.
http://purl.obolibrary.org/obo/DOID_0070316	Miura type epiphyseal chondrodysplasia	http://purl.obolibrary.org/obo/DOID_0080006	bone development disease		A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13.
http://purl.obolibrary.org/obo/DOID_0080320	peripheral nervous system benign neoplasm	http://purl.obolibrary.org/obo/DOID_0060090	central nervous system benign neoplasm		A central nervous system benign neoplasm the is located_in the peripheral nervous system.
http://purl.obolibrary.org/obo/DOID_0080321	autonomic nervous system benign neoplasm	http://purl.obolibrary.org/obo/DOID_0080320	peripheral nervous system benign neoplasm		A peripheral nervous system benign neoplasm that is located_in the autonomic nervous system.
http://purl.obolibrary.org/obo/DOID_0080322	polycystic kidney disease	http://purl.obolibrary.org/obo/DOID_2975	cystic kidney disease		A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure.
http://purl.obolibrary.org/obo/DOID_0080323	pancreatic squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A squamous cell carcinoma located in the pancreas.
http://purl.obolibrary.org/obo/DOID_0080324	tuberous sclerosis 1	http://purl.obolibrary.org/obo/DOID_13515	tuberous sclerosis		A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in heterozygous mutation in the TSC1 gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0080325	tuberous sclerosis 2	http://purl.obolibrary.org/obo/DOID_13515	tuberous sclerosis		A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TSC2 gene, which encodes tuberin, on chromosome 16p13.
http://purl.obolibrary.org/obo/DOID_0080326	familial hypertrophic cardiomyopathy	http://purl.obolibrary.org/obo/DOID_11984	hypertrophic cardiomyopathy		A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations.
http://purl.obolibrary.org/obo/DOID_60000	appendix disease	http://purl.obolibrary.org/obo/DOID_77	gastrointestinal system disease		A gastrointestinal system disease that is located_in the appendix.
http://purl.obolibrary.org/obo/DOID_0080630	B-lymphoblastic leukemia/lymphoma	http://purl.obolibrary.org/obo/DOID_0080638	B-cell acute lymphoblastic leukemia		A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow.
http://purl.obolibrary.org/obo/DOID_0080994	autoimmune epilepsy	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		An epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction.
http://purl.obolibrary.org/obo/DOID_0070355	overactive bladder syndrome	http://purl.obolibrary.org/obo/DOID_365	bladder disease		A bladder disease characterized by urinary urgency without urinary tract infection or obvious pathology, usually accompanied by urinary frequency and nocturia.
http://purl.obolibrary.org/obo/DOID_0081267	graft-versus-host disease	http://purl.obolibrary.org/obo/DOID_2914	immune system disease		An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32.
http://purl.obolibrary.org/obo/DOID_0081268	pulmonary venoocclusive disease 1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A pulmonary venoocclusive disease that has_material_basis_in heterozygous mutation in the BMPR2 gene on chromosome 2q33.
http://purl.obolibrary.org/obo/DOID_0081269	pulmonary venoocclusive disease 2	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation.
http://purl.obolibrary.org/obo/DOID_0081270	Smith-McCort dysplasia 1	http://purl.obolibrary.org/obo/DOID_0060247	Smith-McCort dysplasia		A Smith-McCort dysplasia that is characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene (607461) on chromosome 18q21.
http://purl.obolibrary.org/obo/DOID_0081271	Smith-McCort dysplasia 2	http://purl.obolibrary.org/obo/DOID_0060247	Smith-McCort dysplasia		A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the RAB33B gene on chromosome 4q31.
http://purl.obolibrary.org/obo/DOID_0081272	Sandestig-Stefanova syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis and that has_material_basis_in homozygous mutation in the NUP188 gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0081273	Siddiqi syndrome	http://purl.obolibrary.org/obo/DOID_9455	lipid storage disease		A lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index and that has_material_basis_in homozygous or compound heterozygous mutation in the FITM2 gene on chromosome 20q13.
http://purl.obolibrary.org/obo/DOID_0081274	peroxisome biogenesis disorder 14B	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A peroxisome biogenesis disorder that is characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy and that has_material_basis_in homozygous mutation in the PEX11B gene on chromosome 1q21.
http://purl.obolibrary.org/obo/DOID_0081275	neurodevelopmental disorder with eye movement abnormalities and ataxia	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy and that has_material_basis_in heterozygous mutation in the FRMD5 gene on chromosome 15q15. Affected individuals show delayed walking with an unsteady gait, variably impaired intellectual development, learning disabilities, and speech difficulties.
http://purl.obolibrary.org/obo/DOID_0081276	cerebellar atrophy, visual impairment, and psychomotor retardation	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation and that has_material_basis_in homozygous mutation in the EMC1 gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0081277	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	http://purl.obolibrary.org/obo/DOID_3070	high grade glioma		A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations.
http://purl.obolibrary.org/obo/DOID_0081278	infant-type hemispheric glioma	http://purl.obolibrary.org/obo/DOID_3069	malignant astrocytoma		A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood.
http://purl.obolibrary.org/obo/DOID_0081279	diffuse astrocytoma, MYB- or MYBL1-altered	http://purl.obolibrary.org/obo/DOID_4857	diffuse astrocytoma		A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1.
http://purl.obolibrary.org/obo/DOID_0081280	pituicytoma	http://purl.obolibrary.org/obo/DOID_5048	posterior pituitary gland neoplasm		A posterior pituitary gland neoplasm that is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements.
http://purl.obolibrary.org/obo/DOID_0081281	oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2	http://purl.obolibrary.org/obo/DOID_0080882	IDH-mutant and 1p/19q-codeleted oligodendroglioma		An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis).
http://purl.obolibrary.org/obo/DOID_0081282	oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3	http://purl.obolibrary.org/obo/DOID_0080882	IDH-mutant and 1p/19q-codeleted oligodendroglioma		An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas.
http://purl.obolibrary.org/obo/DOID_0081283	papillary glioneuronal tumor	http://purl.obolibrary.org/obo/DOID_0060090	central nervous system benign neoplasm		A central nervous system benign neoplasm that is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae.
http://purl.obolibrary.org/obo/DOID_0081284	rosette-forming glioneuronal tumor	http://purl.obolibrary.org/obo/DOID_0060090	central nervous system benign neoplasm		A central nervous system benign neoplasm that is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers.
http://purl.obolibrary.org/obo/DOID_0081285	myxoid glioneuronal tumor	http://purl.obolibrary.org/obo/DOID_0060090	central nervous system benign neoplasm		A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma.
http://purl.obolibrary.org/obo/DOID_0081286	embryonal tumor with multilayered rosettes	http://purl.obolibrary.org/obo/DOID_0060103	central nervous system embryonal tumor		A central nervous system embryonal tumor that is characterized by the presence of multilayered rosette formation and typically the presence of amplification of the C19MC region on chromosome 19 (19q13.42) or rarely a DICER1 mutation.
http://purl.obolibrary.org/obo/DOID_0081366	Paget's disease of bone 3	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Paget's disease of bone that has_material_basis_in heterozygous mutation in the SQSTM1 gene on chromosome 5q35.
http://purl.obolibrary.org/obo/DOID_0070423	early onset progressive encephalopathy with brain atrophy and thin corpus callosum	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder characterized by onset at birth or in infancy of developmental delay, intellectual disability, seizures, secondary hypomyelination, cerebral atrophy, and thin corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the TBCD gene on chromosome 17q25.
http://purl.obolibrary.org/obo/DOID_0081367	Paget's disease of bone 4	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Paget's disease of bone that has_material_basis_in linkage to the 5q31 region within 12.2 cM, between D5S642 and D5S1972.
http://purl.obolibrary.org/obo/DOID_0060912	craniosynostosis 7	http://purl.obolibrary.org/obo/DOID_2340	craniosynostosis		A craniosynostosis characterized by skull deformity and the inability of the skull's growth to keep up with the developing brain that has_material_basis_in a weakly penetrant heterozygous mutation in the SMAD6 gene on chromosome 15q22, typically with the risk allele of a common variant near the BMP2 gene on chromosome 20p12, resulting in potential intracranial pressure elevation.
http://purl.obolibrary.org/obo/DOID_0060913	proteosome-associated autoinflammatory syndrome	http://purl.obolibrary.org/obo/DOID_0051000	autoinflammatory disease		An autoinflammatory disease that is characterized by early onset, dermatitis, dysregulation of the immune response and variable features of recurrent fever, joint contractures, lipodystrophy, hepatosplenomegaly, anemia and calcifications.
http://purl.obolibrary.org/obo/DOID_0060914	proteosome-associated autoinflammatory syndrome 2	http://purl.obolibrary.org/obo/DOID_0060913	proteosome-associated autoinflammatory syndrome		A proteasome-associated autoinflammatory syndrome that is characterized by severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency and that has_material_basis_in heterozygous mutation in the POMP gene on chromosome 13q12.
http://purl.obolibrary.org/obo/DOID_0060915	proteosome-associated autoinflammatory syndrome 4	http://purl.obolibrary.org/obo/DOID_0060913	proteosome-associated autoinflammatory syndrome		A proteasome-associated autoinflammatory syndrome that is characterized by onset of panniculitis and erythematous skin lesions in early infancy with variable features of lymphadenopathy, myositis, delayed motor and speech development and autoimmune features and that has_material_basis_in compound heterozygous mutation in the PSMG2 gene on chromosome 18p11.
http://purl.obolibrary.org/obo/DOID_0060916	proteasome-associated autoinflammatory syndrome 3	http://purl.obolibrary.org/obo/DOID_0060913	proteosome-associated autoinflammatory syndrome		A proteasome-associated autoinflammatory syndrome that is characterized by nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression pattern with onset in early infancy and that has_material_basis_in a homozygous mutation in the PSMB4 gene on chromosome 1q21 or a heterozygous mutation in the PSMB4 gene and a heterozygous mutation in the PSMB9 gene on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0060917	facioscapulohumeral muscular dystrophy 3	http://purl.obolibrary.org/obo/DOID_11727	facioscapulohumeral muscular dystrophy		A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chromosome 1p13 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression.
http://purl.obolibrary.org/obo/DOID_0060918	facioscapulohumeral muscular dystrophy 4	http://purl.obolibrary.org/obo/DOID_11727	facioscapulohumeral muscular dystrophy		A facioscapulohumeral muscular dystrophy characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles with disease progression that has_material_basis_in the combination of a heterozygous mutation in the DNMT3B gene on chromosome 20q11 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression.
http://purl.obolibrary.org/obo/DOID_0060919	proteosome-associated autoinflammatory syndrome 5	http://purl.obolibrary.org/obo/DOID_0060913	proteosome-associated autoinflammatory syndrome		A proteasome-associated autoinflammatory syndrome that is characterized by recurrent, polymorphic disseminated cutaneous rash with annular lesions, non-specific lymphocytic infiltration, fever, failure to thrive, persistent hepatosplenomegaly, emaciated face, long slender fingers, levated acute-phase reactants and microcytic anemia and that has_material_basis_in homozygous mutation in the PSMB10 gene on chromosome 16q22.
http://purl.obolibrary.org/obo/DOID_0070470	chromosome 1p36.33 duplication syndrome	http://purl.obolibrary.org/obo/DOID_0060429	chromosomal duplication syndrome		A chromosomal duplication syndrome characterized by cardiomyopathy, corneal clouding or cataracts, hyperlactacidemia, and perinatal death that has_material_basis_in heterozygous duplication within the ATAD3 gene cluster, including the ATAD3A, ATAD3B, and ATAD3C genes, on chromosome 1p36.33 resulting in ATAD3A/ATAD3C gene fusion. Hypotonia, encephalopathy, seizures, and white matter abnormalities are also common.
http://purl.obolibrary.org/obo/DOID_0070473	Zaki syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by developmental delay, progressive microcephaly, short stature, and dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate that has_material_basis_in homozygous or compound heterozygous mutation in the WLS gene on chromosome 1p31.3. Additional variable features may include ocular, skeletal, cardiac, and renal anomalies.
http://purl.obolibrary.org/obo/DOID_0070474	childhood-onset neurodegeneration with brain atrophy	http://purl.obolibrary.org/obo/DOID_1289	neurodegenerative disease		A neurodegenerative disease characterized by loss of motor and cognitive skills between ages 2 and 7 years with progressive cerebral and cerebellar atrophy, resulting in the inability to walk, absence of language, and profound intellectual disability, that has_material_basis_in heterozygous mutation in the UBTF gene on chromosome 17q21.31.
http://purl.obolibrary.org/obo/DOID_0070485	mitochondrial complex IV deficiency nuclear type 23	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A cytochrome-c oxidase deficiency disease characterized by infantile onset encephalopathy that has_material_basis_in homozygous mutation in the COX11 gene on chromosome 17q22.
http://purl.obolibrary.org/obo/DOID_0070486	Parkinson's disease 25	http://purl.obolibrary.org/obo/DOID_0060894	early-onset Parkinson's disease		An early-onset Parkinson's disease characterized by mild to moderately impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PTPA gene on chromosome 9q34.11.
http://purl.obolibrary.org/obo/DOID_0070487	dopamine transporter deficiency syndrome	http://purl.obolibrary.org/obo/DOID_480	movement disease		A movement disease characterized by parkinsonism-dystonia including tremor, progressive bradykinesia, and dystonic posturing that has_material_basis_in mutation in the SLC6A3 gene on chromosome 5p15.33.
http://purl.obolibrary.org/obo/DOID_0070488	atypical dopamine transporter deficiency syndrome	http://purl.obolibrary.org/obo/DOID_0070487	dopamine transporter deficiency syndrome		A dopamine transporter deficiency syndrome characterized by normal psychomotor development through early childhood and late childhood-to-adult onset of parkinsonism-dystonia.
http://purl.obolibrary.org/obo/DOID_0070489	classic dopamine transporter deficiency syndrome	http://purl.obolibrary.org/obo/DOID_0070487	dopamine transporter deficiency syndrome		A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid.
http://purl.obolibrary.org/obo/DOID_0070490	infantile parkinsonism-dystonia 2	http://purl.obolibrary.org/obo/DOID_480	movement disease		A movement disease characterized by parkinsonism, dystonia, poor fine motor skills, and autonomic dysfunction including abnormal sweating, cold extremities, and poor sleep that has_material_basis_in homozygous mutation in the SLC18A2 gene on chromosome 10q25.3.
http://purl.obolibrary.org/obo/DOID_0070492	mitochondrial complex IV deficiency nuclear type 3	http://purl.obolibrary.org/obo/DOID_0081377	COX deficiency, benign infantile mitochondrial myopathy		A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX10 gene on chromosome 17p12.
http://purl.obolibrary.org/obo/DOID_0070493	mitochondrial complex IV deficiency nuclear type 4	http://purl.obolibrary.org/obo/DOID_0081377	COX deficiency, benign infantile mitochondrial myopathy		A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SCO1 gene on chromosome 17p13.1.
http://purl.obolibrary.org/obo/DOID_0070494	mitochondrial complex IV deficiency nuclear type 7	http://purl.obolibrary.org/obo/DOID_0081377	COX deficiency, benign infantile mitochondrial myopathy		A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX6B1 gene on chromosome 19q13.12.
http://purl.obolibrary.org/obo/DOID_0070495	mitochondrial complex IV deficiency nuclear type 8	http://purl.obolibrary.org/obo/DOID_0081377	COX deficiency, benign infantile mitochondrial myopathy		A COX deficiency, benign infantile mitochondrial myopathy characterized by normal early development followed by the onset of slowly progressive decline in neurologic function in the first decade of life resulting in gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability that has_material_basis_in homozygous mutation in the TACO1 gene on chromosome 17q23.3.
http://purl.obolibrary.org/obo/DOID_0070496	mitochondrial complex IV deficiency nuclear type 10	http://purl.obolibrary.org/obo/DOID_0081377	COX deficiency, benign infantile mitochondrial myopathy		A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX14 gene on chromosome 12q13.12.
http://purl.obolibrary.org/obo/DOID_0070497	mitochondrial complex IV deficiency nuclear type 11	http://purl.obolibrary.org/obo/DOID_0081377	COX deficiency, benign infantile mitochondrial myopathy		A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX20 gene on chromosome 1q44.
http://purl.obolibrary.org/obo/DOID_0070498	mitochondrial complex IV deficiency nuclear type 12	http://purl.obolibrary.org/obo/DOID_0081377	COX deficiency, benign infantile mitochondrial myopathy		A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET100 gene on chromosome 19p13.2.
http://purl.obolibrary.org/obo/DOID_0070499	mitochondrial complex IV deficiency nuclear type 14	http://purl.obolibrary.org/obo/DOID_0081377	COX deficiency, benign infantile mitochondrial myopathy		A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COA3 gene on chromosome 17q21.2.
http://purl.obolibrary.org/obo/DOID_0070500	mitochondrial complex IV deficiency nuclear type 15	http://purl.obolibrary.org/obo/DOID_0081377	COX deficiency, benign infantile mitochondrial myopathy		A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX8A gene on chromosome 11q13.1.
http://purl.obolibrary.org/obo/DOID_0070501	mitochondrial complex IV deficiency nuclear type 16	http://purl.obolibrary.org/obo/DOID_0081377	COX deficiency, benign infantile mitochondrial myopathy		A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX4I1 gene on chromosome 16q24.1.
http://purl.obolibrary.org/obo/DOID_0070502	mitochondrial complex IV deficiency nuclear type 17	http://purl.obolibrary.org/obo/DOID_0081377	COX deficiency, benign infantile mitochondrial myopathy		A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA8 gene on chromosome 14q32.33.
http://purl.obolibrary.org/obo/DOID_0070503	mitochondrial complex IV deficiency nuclear type 18	http://purl.obolibrary.org/obo/DOID_0081377	COX deficiency, benign infantile mitochondrial myopathy		A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX6A2 gene on chromosome 16p11.2.
http://purl.obolibrary.org/obo/DOID_0070504	mitochondrial complex IV deficiency nuclear type 19	http://purl.obolibrary.org/obo/DOID_0081377	COX deficiency, benign infantile mitochondrial myopathy		A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET117 gene on chromosome 20p11.23.
http://purl.obolibrary.org/obo/DOID_0070505	mitochondrial complex IV deficiency nuclear type 20	http://purl.obolibrary.org/obo/DOID_0081377	COX deficiency, benign infantile mitochondrial myopathy		A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX5A gene on chromosome 15q24.2.
http://purl.obolibrary.org/obo/DOID_0070506	mitochondrial complex IV deficiency nuclear type 21	http://purl.obolibrary.org/obo/DOID_0081377	COX deficiency, benign infantile mitochondrial myopathy		A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the NDUFA4 gene on chromosome 7p21.3.
http://purl.obolibrary.org/obo/DOID_0070507	mitochondrial complex IV deficiency nuclear type 22	http://purl.obolibrary.org/obo/DOID_0081377	COX deficiency, benign infantile mitochondrial myopathy		A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX16 gene on chromosome 14q24.2.
http://purl.obolibrary.org/obo/DOID_0070508	metabolic dysfunction and alcohol associated liver disease	http://purl.obolibrary.org/obo/DOID_9452	steatotic liver disease		A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.
http://purl.obolibrary.org/obo/DOID_0081383	ataxia-oculomotor apraxia 4	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0081384	ataxia-telangiectasia-like disorder 1	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia that is characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia and that has_material_basis_in homozygous or compound heterozygous mutation in the MRE11A gene (MRE11) on chromosome 11q21.
http://purl.obolibrary.org/obo/DOID_0081385	ataxia-telangiectasia-like disorder 2	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that has_material_basis_in homozygous mutation in the PCNA gene on chromosome 20p12.
http://purl.obolibrary.org/obo/DOID_0081386	TANGO2-related metabolic encephalopathy and arrythmias	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system and that has_material_basis_in homozygous or compound heterozygous mutation in the TANGO2 gene on chromosome 22q11.
http://purl.obolibrary.org/obo/DOID_0081387	neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that is characterized by the onset of features in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the INTS11 gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0081388	primary progressive aphasia	http://purl.obolibrary.org/obo/DOID_9255	frontotemporal dementia		A frontotemporal dementia that characterized by the progressive onset of language impairments, and gradual deterioration of these abilities over time, associated with atrophy of the language network of the brain, including frontal, temporal, and parietal regions of the left hemisphere. It is caused by a loss of tissue (atrophy) in the area of the brain that is responsible for producing language.
http://purl.obolibrary.org/obo/DOID_0081389	logopenic progressive aphasia	http://purl.obolibrary.org/obo/DOID_0081388	primary progressive aphasia		A primary progressive aphasia that is characterized by language disturbance, including difficulty making or understanding speech. It is a type of primary progressive aphasia. Affected individuals have slow, hesitant speech due to difficulty retrieving the correct words, names, or numbers.
http://purl.obolibrary.org/obo/DOID_0081390	progressive non-fluent aphasia	http://purl.obolibrary.org/obo/DOID_0081388	primary progressive aphasia		A primary progressive aphasia that is characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech.
http://purl.obolibrary.org/obo/DOID_0081391	semantic dementia	http://purl.obolibrary.org/obo/DOID_0081388	primary progressive aphasia		A primary progressive aphasia that is characterized by the progressive, amodal and profound loss of semantic knowledge and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.
http://purl.obolibrary.org/obo/DOID_0081392	corticobasal degeneration syndrome	http://purl.obolibrary.org/obo/DOID_9255	frontotemporal dementia		A frontotemporal dementia that characterized by the loss of cognitive functions such as the ability to think, remember, or reason to the point that it interferes with a person's daily life and activities.
http://purl.obolibrary.org/obo/DOID_0081393	organophosphate-induced delayed polyneuropathy	http://purl.obolibrary.org/obo/DOID_2537	inflammatory and toxic neuropathy		An inflammatory and toxic neuropathy that is characaterized by a collection of neuropsychological symptoms associated with repeated organophosphate pesticide exposure as well as nerve agent exposure. Symptoms can appear weeks after exposure and include muscle weakness, anxiety, depression, psychosis as well as cognitive and memory deficits.
http://purl.obolibrary.org/obo/DOID_0081394	Caroli syndrome	http://purl.obolibrary.org/obo/DOID_866	vein disease		A syndrome that is characterized by the presence of associated congenital hepatic fibrosis and that is associated with autosomal recessive polycystic kidney disease.
http://purl.obolibrary.org/obo/DOID_0081407	childhood round cell sarcoma with EWSR1-non-ETS fusion	http://purl.obolibrary.org/obo/DOID_0081406	round cell sarcoma with EWSR1-non-ETS fusion		A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood.
http://purl.obolibrary.org/obo/DOID_0081415	TFE3-rearranged renal cell carcinoma	http://purl.obolibrary.org/obo/DOID_0081413	renal cell carcinoma with MiT translocations		A renal cell carcinoma with MiT translocations that is characterized by the presence of different translocations involving the chromosome Xp11.2 and that result in the creation of gene fusions involving the TFE3 gene.
http://purl.obolibrary.org/obo/DOID_0081423	familial focal epilepsy with variable foci 3	http://purl.obolibrary.org/obo/DOID_0081420	familial focal epilepsy with variable foci		A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL3 gene on chromosome 16p13.
http://purl.obolibrary.org/obo/DOID_0070594	spermatogenic failure 95	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that has_material_basis_in homozygous mutation in the CFAP57 gene on chromosome 1p34.2.
http://purl.obolibrary.org/obo/DOID_0060995	autosomal dominant isolated macrothrombocytopenia 2	http://purl.obolibrary.org/obo/DOID_1588	thrombocytopenia		A thrombocytopenia that is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes that has_material_basis_in heterozygous mutation in the TUBA8 gene on chromosome 22q11.
http://purl.obolibrary.org/obo/DOID_0061005	congenital amegakaryocytic thrombocytopenia 1	http://purl.obolibrary.org/obo/DOID_0090118	congenital amegakaryocytic thrombocytopenia		A congenital amegakaryocytic thrombocytopenia that is characterized by onset of thrombocytopenia and megakaryocytopenia in infancy or early childhood that has_material_basis_in autosomal homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene on chromosome 1p34.
http://purl.obolibrary.org/obo/DOID_0061006	advanced sleep phase syndrome 4	http://purl.obolibrary.org/obo/DOID_0050628	advanced sleep phase syndrome		An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the TIMELESS gene on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0061007	sideroblastic anemia 5	http://purl.obolibrary.org/obo/DOID_8955	sideroblastic anemia		A sideroblastic anemia that is characterized by abnormal iron accumulation in the mitochondria or erythroid cells that has_material_basis_in compound heterozygous mutation in the HSCB gene on chromosome 22q12.
http://purl.obolibrary.org/obo/DOID_0061008	craniosynostosis 6	http://purl.obolibrary.org/obo/DOID_2340	craniosynostosis		A craniosynostosis that has_material_basis_in heterozygous mutation in the ZIC1 gene on chromosome 3q24.
http://purl.obolibrary.org/obo/DOID_0061009	craniosynostosis 2	http://purl.obolibrary.org/obo/DOID_2340	craniosynostosis		A craniosynostosis characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly that has_material_basis_in heterozygous mutation in the MSX2 gene on chromosome 5q35.
http://purl.obolibrary.org/obo/DOID_0061010	craniosynostosis 1	http://purl.obolibrary.org/obo/DOID_2340	craniosynostosis		A craniosynostosis that has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21.
http://purl.obolibrary.org/obo/DOID_0061011	craniosynostosis 3	http://purl.obolibrary.org/obo/DOID_2340	craniosynostosis		A craniosynostosis that has_material_basis_in heterozygous mutation in the TCF12 gene on chromosome 15q21.
http://purl.obolibrary.org/obo/DOID_0061012	craniosynostosis 4	http://purl.obolibrary.org/obo/DOID_2340	craniosynostosis		A craniosynostosis that has_material_basis_in heterozygous mutation in the ERF gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0061013	ovarian dysgenesis 9	http://purl.obolibrary.org/obo/DOID_14450	46 XX gonadal dysgenesis		A 46 XX gonadal dysgenesis characterized by severe nonsyndromic primary ovarian insufficiency with primary amenorrhea, hypoplastic or absent ovaries, and delayed bone age that has_material_basis_in homozygous mutation in the SPIDR gene on chromosome 8q11.
http://purl.obolibrary.org/obo/DOID_0061014	ovarian dysgenesis 10	http://purl.obolibrary.org/obo/DOID_14450	46 XX gonadal dysgenesis		A 46 XX gonadal dysgenesis characterized by primary amenorrhea and absent puberty that has_material_basis_in homozygous mutation in the ZSWIM7 gene on chromosome 17p12.
http://purl.obolibrary.org/obo/DOID_0070620	ring chromosome syndrome	http://purl.obolibrary.org/obo/DOID_0080014	chromosomal disease		A chromosomal disease that has_material_basis_in chromosome fusion into a ring or ring-like structure. Ring chromosome syndrome phenotypes are inherently variable.
http://purl.obolibrary.org/obo/DOID_0070621	ring chromosome 14 syndrome	http://purl.obolibrary.org/obo/DOID_0070620	ring chromosome syndrome		A ring chromosome syndrome characterized by early-onset epilepsy, developmental delay with mental retardation and poor speech, microcephaly, and dysmorphic facial features that has_material_basis_in chromosome 14 fusion into a ring or ring-like structure.
http://purl.obolibrary.org/obo/DOID_0070622	ring chromosome 20 syndrome	http://purl.obolibrary.org/obo/DOID_0070620	ring chromosome syndrome		A ring chromosome syndrome characterized by recognizable epileptic phenotype with typical EEG pattern, intellectual disability manifesting after seizure onset in otherwise normally developing children, and behavioral changes that has_material_basis_in chromosome 20 fusion into a ring or ring-like structure.
http://purl.obolibrary.org/obo/DOID_0070623	B-lymphoblastic leukemia with MEF2D rearrangement	http://purl.obolibrary.org/obo/DOID_0080630	B-lymphoblastic leukemia/lymphoma		A B-lymphoblastic leukemia/lymphoma associated with MEF2D gene rearrangement.
http://purl.obolibrary.org/obo/DOID_0070624	B-lymphoblastic leukemia with MYC rearrangement	http://purl.obolibrary.org/obo/DOID_0080630	B-lymphoblastic leukemia/lymphoma		A B-lymphoblastic leukemia/lymphoma associated with MYC gene rearrangement.
http://purl.obolibrary.org/obo/DOID_0070625	B-lymphoblastic leukemia with NUTM1 rearrangement	http://purl.obolibrary.org/obo/DOID_0080630	B-lymphoblastic leukemia/lymphoma		A B-lymphoblastic leukemia/lymphoma associated with NUTM1 gene rearrangement.
http://purl.obolibrary.org/obo/DOID_0070626	B-lymphoblastic leukemia with PAX5alt	http://purl.obolibrary.org/obo/DOID_0080630	B-lymphoblastic leukemia/lymphoma		A B-lymphoblastic leukemia/lymphoma associated with PAX5 gene alteration, including rearrangements, point mutations, and intragenic lesions.
http://purl.obolibrary.org/obo/DOID_0070627	B-lymphoblastic leukemia with TCF3-HLF fusion	http://purl.obolibrary.org/obo/DOID_0080630	B-lymphoblastic leukemia/lymphoma		A B-lymphoblastic leukemia/lymphoma associated with TCF3-HLF gene rearrangement.
http://purl.obolibrary.org/obo/DOID_0070628	B-lymphoblastic leukemia with ZNF384 rearrangement	http://purl.obolibrary.org/obo/DOID_0080630	B-lymphoblastic leukemia/lymphoma		A B-lymphoblastic leukemia/lymphoma associated with ZNF384 gene rearrangement.
http://purl.obolibrary.org/obo/DOID_0070629	acute myeloid leukemia with CBFA2T3-GLIS2 fusion	http://purl.obolibrary.org/obo/DOID_9119	acute myeloid leukemia		An acute myeloid leukemia associated with CBFA2T3-GLIS2 chimeric oncogene.
http://purl.obolibrary.org/obo/DOID_0070630	acute myeloid leukemia with KAT6A-CREBBP fusion	http://purl.obolibrary.org/obo/DOID_9119	acute myeloid leukemia		An acute myeloid leukemia associated with KAT6A-CREBBP gene fusion.
http://purl.obolibrary.org/obo/DOID_0070631	acute myeloid leukemia with FUS-ERG fusion	http://purl.obolibrary.org/obo/DOID_9119	acute myeloid leukemia		An acute myeloid leukemia associated with FUS-ERG gene fusion.
http://purl.obolibrary.org/obo/DOID_0070632	acute myeloid leukemia with MNX1-ETV6 fusion	http://purl.obolibrary.org/obo/DOID_9119	acute myeloid leukemia		An acute myeloid leukemia associated with MXN1-ETV6 gene fusion.
http://purl.obolibrary.org/obo/DOID_0070633	acute myeloid leukemia with NPM1-MLF1 fusion	http://purl.obolibrary.org/obo/DOID_9119	acute myeloid leukemia		An acute myeloid leukemia associated with NPM1-MLF1 gene fusion.
http://purl.obolibrary.org/obo/DOID_0061140	ragopathy	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that has_material_basis_in mutations in heterodimeric Ras-related small GTP-binding proteins (Rag-GTPases), which bind mTORC1 in an amino acid-dependent manner and serve as crucial regulators of its kinase activity towards various substrates.
http://purl.obolibrary.org/obo/SYMP_0000539	jaundice	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by a yellowish pigmentation of the skin, tissues, and certain body fluids is caused by the deposition of bile pigments that follows interference with normal production and discharge of bile (as in certain liver diseases) or excessive breakdown of red blood cells (as after internal hemorrhage or in various hemolytic states).
http://purl.obolibrary.org/obo/ExO_0000014	climate change	http://purl.obolibrary.org/obo/ExO_0000007	ecological perturbation		An ecological pertubation that is any significant change in measures of climate (such as temperature, precipitation, or wind) lasting for an extended period (decades or longer). It may result from natural factors such as changes in the sun's intensity, natural processes within the climate system such as changes in ocean circulation, or human activities.
http://purl.obolibrary.org/obo/SYMP_0000246	increased appetite	http://purl.obolibrary.org/obo/SYMP_0000244	alteration of appetite		An alteration of appetite that is characterized by an desire to eat, an excess desire for food.
http://purl.obolibrary.org/obo/SYMP_0000600	apnea	http://purl.obolibrary.org/obo/SYMP_0000598	respiratory abnormality		A respiratory abnormality that is characterized by transient cessation of respiration whether normal (as in hibernating animals) or abnormal (as that caused by certain drugs).
http://purl.obolibrary.org/obo/SYMP_0000748	facial edema	http://purl.obolibrary.org/obo/SYMP_0000538	edema		An adema that is characterized by an abnormal excess accumulation of serous fluid in connective tissue of the face.
http://purl.obolibrary.org/obo/SYMP_0000421	hematochezia	http://purl.obolibrary.org/obo/SYMP_0000146	feces and droppings symptom		hematochezia is a feces and droppings symptom characterized by the passage of fresh blood per anus, usually in or with stools.
http://purl.obolibrary.org/obo/SYMP_0000844	face hyperemia	http://purl.obolibrary.org/obo/SYMP_0000387	head symptom		Hyperemia of the face is a head symptom consisting of an excess of blood in the tissues of the face as from an increased flow of blood due to vasodilation.
http://purl.obolibrary.org/obo/NCIT_C14329	Microorganism	http://purl.obolibrary.org/obo/DISDRIV_0000003	biological driver		A biological agent that is a microorganism, including bacteria, viruses, or fungi. A microscopic organism. The term microorganism may refer to a prokaryote or eukaryote, and may be a unicellular or multicellular organism. All taxonomic kingdoms contain microorganisms.
http://purl.obolibrary.org/obo/NCIT_C598	Iron	http://purl.obolibrary.org/obo/CHEBI_33284	nutrient		An important mineral the body needs to make hemoglobin, a substance in the blood that carries oxygen from the lungs to tissues throughout the body. Iron is also an important part of many other proteins and enzymes needed by the body for normal growth and development. It is found in red meat, fish, poultry, lentils, beans, and foods with iron added, such as cereal.
http://purl.obolibrary.org/obo/NCIT_C603	Isotretinoin	http://purl.obolibrary.org/obo/DISDRIV_0000006	chemical driver		A chemical driver that is accutane (retinoic acid), a medication primarily used to treat severe acne.
http://purl.obolibrary.org/obo/NCIT_C943	Vitamin K	http://purl.obolibrary.org/obo/CHEBI_33229	vitamin (role)		The term "vitamin K" refers to a group of chemically similar fat-soluble compounds called naphthoquinones: vitamin K1 (phytonadione) is found in plants and is the primary source of vitamin K for humans through dietary consumption, vitamin K2 compounds (menaquinones) are made by bacteria in the human gut, and vitamin K3 (menadione) is a water-soluble preparation available for adults only. Vitamin K is necessary for the liver to produce the coagulation factors II, VII, IX, and X, as well as the clotting factors protein C, protein S, and protein Z; vitamin K deficiency can result in deficiencies of these coagulation factors and excess bleeding. An injection of vitamin K is routinely given to newborn infants to prevent vitamin K deficiency bleeding, also known as hemorrhagic disease of the newborn. Vitamin K deficiency is rare in adults but may result from chronic malnutrition or an inability to absorb dietary vitamins.
http://purl.obolibrary.org/obo/DOID_0080311	Billuart-type X-linked syndromic intellectual developmental disorder	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked intellectual disability characterized by moderately to severely impaired intellectual development, cerebellar hypoplasia, and seizures that has_material_basis_in mutation in the oligophrenin-1 gene on chromosome Xq12.
http://purl.obolibrary.org/obo/DOID_0080312	neurodevelopmental disorder with midbrain and hindbrain malformations	http://purl.obolibrary.org/obo/DOID_0050888	syndromic intellectual disability		A syndromic intellectual disability characterized by mild microcephaly, midbrain-hindbrain malformations, decreased reflexes, impaired fine motor movements, and variable dysmorphic features that has_material_basis_in homozygous mutation in the ARHGEF2 gene on chromosome 1q22.
http://purl.obolibrary.org/obo/DOID_0080313	cleft palate-lateral synechia syndrome	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		A physical disorder that is characterized by fusion of maxilla and mandible.
http://purl.obolibrary.org/obo/DOID_0080314	cone-rod dystrophy 14	http://purl.obolibrary.org/obo/DOID_0050572	cone-rod dystrophy		A cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor cells in later life that has_material_basis_in mutation in the GUCA1A gene on chromosome 6p21.1.
http://purl.obolibrary.org/obo/DOID_0080315	megalencephalic leukoencephalopathy with subcortical cysts	http://purl.obolibrary.org/obo/DOID_10579	leukodystrophy		A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline.
http://purl.obolibrary.org/obo/DOID_0080316	megalencephalic leukoencephalopathy with subcortical cysts 1	http://purl.obolibrary.org/obo/DOID_0080315	megalencephalic leukoencephalopathy with subcortical cysts		A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in the MLC1 gene on chromosome 22q13.
http://purl.obolibrary.org/obo/DOID_0080317	megalencephalic leukoencephalopathy with subcortical cysts 2B	http://purl.obolibrary.org/obo/DOID_0080315	megalencephalic leukoencephalopathy with subcortical cysts		A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and mildly delayed motor development associated with white matter abnormalities that improve with age, and sometimes mental retardation that has_material_basis_in heterozygous mutation in the HEPACAM gene on chromosome 11q24.
http://purl.obolibrary.org/obo/DOID_0080318	megalencephalic leukoencephalopathy with subcortical cysts 2A	http://purl.obolibrary.org/obo/DOID_0080315	megalencephalic leukoencephalopathy with subcortical cysts		A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, cognitive decline of variable severity, white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts that has_material_basis_in homozygous or compound heterozygous mutation in the HEPACAM gene on chromosome 11q24.
http://purl.obolibrary.org/obo/DOID_0080319	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia	http://purl.obolibrary.org/obo/DOID_628	combined T cell and B cell immunodeficiency		A T cell deficiency that is characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation in males and has_material_basis_in X-linked inheritance of mutations in the gene encoding magnesium transporter-1 (MAGT1).
http://purl.obolibrary.org/obo/DOID_0080583	Wolfram syndrome, mitochondrial form	http://purl.obolibrary.org/obo/DOID_10632	Wolfram syndrome		A Wolfram syndrome that has_material_basis_in mutation in mtDNA.
http://purl.obolibrary.org/obo/DOID_0080584	autosomal dominant Wolfram syndrome	http://purl.obolibrary.org/obo/DOID_10632	Wolfram syndrome		A Wolfram syndrome that is characterized by congenital progressive hearing impairment, diabetes mellitus, and optic atrophy and that has_material_basis_in autosomal dominant inheritance of a heterozygous mutation in the WFS1 gene on chromosome 4p16.
http://purl.obolibrary.org/obo/DOID_0080585	Van Maldergem syndrome 1	http://purl.obolibrary.org/obo/DOID_0060238	Van Maldergem syndrome		A Van Maldergem syndrome that has_material_basis_in homozygous mutation in the DCHS1 gene on chromosome 11p15.
http://purl.obolibrary.org/obo/DOID_0080586	Van Maldergem syndrome 2	http://purl.obolibrary.org/obo/DOID_0060238	Van Maldergem syndrome		A Van Malergem syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FAT4 gene on chromosome 4q28.
http://purl.obolibrary.org/obo/DOID_0080587	congenital myasthenic syndrome 22	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21.
http://purl.obolibrary.org/obo/DOID_0111279	psoriasis 7	http://purl.obolibrary.org/obo/DOID_8893	psoriasis		A psoriasis that has_material_basis_in variation in a region on chromosome 1p that includes IL23R.
http://purl.obolibrary.org/obo/DOID_0111280	psoriasis 4	http://purl.obolibrary.org/obo/DOID_8893	psoriasis		A psoriasis that has_material_basis_in variation in a region on chromosome 1q21.
http://purl.obolibrary.org/obo/DOID_0111281	psoriasis 15	http://purl.obolibrary.org/obo/DOID_8893	psoriasis		A psoriasis characterized by pustular psoriasis that has_material_basis_in heterozygous mutation in the AP1S3 gene on chromosome 2q36.1.
http://purl.obolibrary.org/obo/DOID_0111282	psoriasis 5	http://purl.obolibrary.org/obo/DOID_8893	psoriasis		A psoriasis that has_material_basis_in variation in a region on chromosome 3q21.
http://purl.obolibrary.org/obo/DOID_0111283	psoriasis 3	http://purl.obolibrary.org/obo/DOID_8893	psoriasis		A psoriasis that has_material_basis_in variation in a region on chromosome 4q.
http://purl.obolibrary.org/obo/DOID_0111284	psoriasis 9	http://purl.obolibrary.org/obo/DOID_8893	psoriasis		A psoriasis that has_material_basis_in variation in a region on chromosome 4q31-q34.
http://purl.obolibrary.org/obo/DOID_0111285	psoriasis 11	http://purl.obolibrary.org/obo/DOID_8893	psoriasis		A psoriasis that has_material_basis_in variation in a region on chromosome 5q31.1-q33.1 that includes IL12B.
http://purl.obolibrary.org/obo/DOID_0111286	psoriasis 1	http://purl.obolibrary.org/obo/DOID_8893	psoriasis		A psoriasis that has_material_basis_in variation in the HLA-C gene on chromosome 6p21.33.
http://purl.obolibrary.org/obo/DOID_0111287	psoriasis 13	http://purl.obolibrary.org/obo/DOID_8893	psoriasis		A psoriasis that has_material_basis_in variation in the TRAF3IP2 gene on chromosome 6q21.
http://purl.obolibrary.org/obo/DOID_0111288	psoriasis 8	http://purl.obolibrary.org/obo/DOID_8893	psoriasis		A psoriasis that has_material_basis_in variation in a region on chromosome 16q. This region overlaps one that is associated with inflammatory bowel disease 1 disease.
http://purl.obolibrary.org/obo/DOID_0111289	psoriasis 10	http://purl.obolibrary.org/obo/DOID_8893	psoriasis		A psoriasis that has_material_basis_in variation in a region on chromosome 18p11.23.
http://purl.obolibrary.org/obo/DOID_0111290	psoriasis 6	http://purl.obolibrary.org/obo/DOID_8893	psoriasis		A psoriasis that has_material_basis_in variation in a region on chromosome 19p13 that includes BSG.
http://purl.obolibrary.org/obo/DOID_0111291	psoriasis 12	http://purl.obolibrary.org/obo/DOID_8893	psoriasis		A psoriasis that has_material_basis_in variation in a region on chromosome 20q13 that includes RNF114.
http://purl.obolibrary.org/obo/DOID_0111293	generalized epilepsy with febrile seizures plus 4	http://purl.obolibrary.org/obo/DOID_0060170	generalized epilepsy with febrile seizures plus		A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 2p24.
http://purl.obolibrary.org/obo/DOID_0111294	generalized epilepsy with febrile seizures plus 2	http://purl.obolibrary.org/obo/DOID_0060170	generalized epilepsy with febrile seizures plus		A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1A on chromosome 2q24.3.
http://purl.obolibrary.org/obo/DOID_0111295	generalized epilepsy with febrile seizures plus 7	http://purl.obolibrary.org/obo/DOID_0060170	generalized epilepsy with febrile seizures plus		A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN9A on chromosome 2q24.3.
http://purl.obolibrary.org/obo/DOID_0111296	generalized epilepsy with febrile seizures plus 10	http://purl.obolibrary.org/obo/DOID_0060170	generalized epilepsy with febrile seizures plus		A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in HCN1 on chromosome 5p12.
http://purl.obolibrary.org/obo/DOID_0111297	familial febrile seizures	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease characterized by seizures during childhood associated with febrile episodes without any evidence of intracranial infection or defined pathologic or traumatic cause with a familial pattern of inheritance.
http://purl.obolibrary.org/obo/DOID_0111298	familial febrile seizures 8	http://purl.obolibrary.org/obo/DOID_0111297	familial febrile seizures		A familial febrile seizures that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34.
http://purl.obolibrary.org/obo/DOID_0111299	generalized epilepsy with febrile seizures plus 8	http://purl.obolibrary.org/obo/DOID_0060170	generalized epilepsy with febrile seizures plus		A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 6q16.3-q22.31.
http://purl.obolibrary.org/obo/DOID_0111300	generalized epilepsy with febrile seizures plus 6	http://purl.obolibrary.org/obo/DOID_0060170	generalized epilepsy with febrile seizures plus		A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 8p23-p21.
http://purl.obolibrary.org/obo/DOID_0111301	generalized epilepsy with febrile seizures plus 9	http://purl.obolibrary.org/obo/DOID_0060170	generalized epilepsy with febrile seizures plus		A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in STX1B on chromosome 16p11.2.
http://purl.obolibrary.org/obo/DOID_0111302	generalized epilepsy with febrile seizures plus 1	http://purl.obolibrary.org/obo/DOID_0060170	generalized epilepsy with febrile seizures plus		A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1B on chromosome 19q13.11.
http://purl.obolibrary.org/obo/DOID_0111303	familial febrile seizures 9	http://purl.obolibrary.org/obo/DOID_0111297	familial febrile seizures		A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3p24.2-p23.
http://purl.obolibrary.org/obo/DOID_0111304	familial febrile seizures 10	http://purl.obolibrary.org/obo/DOID_0111297	familial febrile seizures		A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3q26.2-q26.33.
http://purl.obolibrary.org/obo/DOID_0111305	familial febrile seizures 4	http://purl.obolibrary.org/obo/DOID_0111297	familial febrile seizures		A familial febrile seizures that has_material_basis_in heterozygous mutation the ADGRV1 gene on chromosome 5q14.3.
http://purl.obolibrary.org/obo/DOID_0111306	familial febrile seizures 5	http://purl.obolibrary.org/obo/DOID_0111297	familial febrile seizures		A familial febrile seizures that has_material_basis_in variation in a region on chromosome 6q22-q24.
http://purl.obolibrary.org/obo/DOID_0111307	familial febrile seizures 1	http://purl.obolibrary.org/obo/DOID_0111297	familial febrile seizures		A familial febrile seizures that has_material_basis_in variation in a region on chromosome 8q13-q21.
http://purl.obolibrary.org/obo/DOID_0111308	familial febrile seizures 11	http://purl.obolibrary.org/obo/DOID_0111297	familial febrile seizures		A familial febrile seizures that has_material_basis_in homozygous mutation in the CPA6 gene on chromosome 8p13.2.
http://purl.obolibrary.org/obo/DOID_0111309	familial febrile seizures 6	http://purl.obolibrary.org/obo/DOID_0111297	familial febrile seizures		A familial febrile seizures that has_material_basis_in variation in a region on chromosome 18p11.2.
http://purl.obolibrary.org/obo/DOID_0111310	familial febrile seizures 2	http://purl.obolibrary.org/obo/DOID_0111297	familial febrile seizures		A familial febrile seizures that has_material_basis_in variation in a region on chromosome 19p13.3.
http://purl.obolibrary.org/obo/DOID_0111311	familial febrile seizures 7	http://purl.obolibrary.org/obo/DOID_0111297	familial febrile seizures		A familial febrile seizures that has_material_basis_in heterozygous mutation.
http://purl.obolibrary.org/obo/DOID_0111324	juvenile absence epilepsy 1	http://purl.obolibrary.org/obo/DOID_0060172	juvenile absence epilepsy		A juvenile absence epilepsy that has_material_basis_in heterozygous mutation in EFHC1 on 6p12.2.
http://purl.obolibrary.org/obo/DOID_0111325	juvenile myoclonic epilepsy 10	http://purl.obolibrary.org/obo/DOID_4890	juvenile myoclonic epilepsy		A juvenile myoclonic epilepsy that has_material_basis_in heterozygous mutation in ICK on chromosome 6p12.1.
http://purl.obolibrary.org/obo/DOID_0111326	juvenile myoclonic epilepsy 3	http://purl.obolibrary.org/obo/DOID_4890	juvenile myoclonic epilepsy		A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0111327	juvenile myoclonic epilepsy 4	http://purl.obolibrary.org/obo/DOID_4890	juvenile myoclonic epilepsy		A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 5q12-q14.
http://purl.obolibrary.org/obo/DOID_0111328	juvenile myoclonic epilepsy 9	http://purl.obolibrary.org/obo/DOID_4890	juvenile myoclonic epilepsy		A juvenile myoclonic epilepsy that has_material_basis_in heterozygous variation in a region on chromosome 2q33-q36.
http://purl.obolibrary.org/obo/DOID_0111329	pyridoxamine 5'-phosphate oxidase deficiency	http://purl.obolibrary.org/obo/DOID_0050718	vitamin metabolic disorder		A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32.
http://purl.obolibrary.org/obo/DOID_0111330	combined saposin deficiency	http://purl.obolibrary.org/obo/DOID_1927	sphingolipidosis		A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or compound heterozygous mutation in PSAP on 10q22.1.
http://purl.obolibrary.org/obo/DOID_0080588	agammaglobulinemia 5	http://purl.obolibrary.org/obo/DOID_2583	agammaglobulinemia		An agammaglobulinemia that has_material_basis_in heterozygous mutation in the LRRC8A gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0111331	intellectual disability-severe speech delay-mild dysmorphism syndrome	http://purl.obolibrary.org/obo/DOID_0050888	syndromic intellectual disability		A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in the FOXP1 gene on chromosome 3p13.
http://purl.obolibrary.org/obo/DOID_0111332	Pitt-Hopkins-like syndrome 2	http://purl.obolibrary.org/obo/DOID_0050888	syndromic intellectual disability		A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in the NRXN1 gene on chromosome 2p16.3.
http://purl.obolibrary.org/obo/DOID_0111333	congenital myopathy 10A	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2.
http://purl.obolibrary.org/obo/DOID_0111334	congenital leptin deficiency	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1.
http://purl.obolibrary.org/obo/DOID_0111335	myopathy with extrapyramidal signs	http://purl.obolibrary.org/obo/DOID_423	myopathy		A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in the MICU1 gene on chromosome 10q22.1.
http://purl.obolibrary.org/obo/DOID_0111336	craniofacial-deafness-hand syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.1.
http://purl.obolibrary.org/obo/DOID_0111337	Jackson-Weiss syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13.
http://purl.obolibrary.org/obo/DOID_0111338	isolated elevated serum creatine phosphokinase levels	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in the CAV3 gene on chromosome 3p25.3.
http://purl.obolibrary.org/obo/DOID_0111339	Vohwinkel syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11.
http://purl.obolibrary.org/obo/DOID_0111340	dominant optic atrophy plus syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29.
http://purl.obolibrary.org/obo/DOID_0111341	primary failure of tooth eruption	http://purl.obolibrary.org/obo/DOID_1091	tooth disease		A tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that has_material_basis_in heterozygous mutation in the PTHR1 gene on chromosome 3p21.31.
http://purl.obolibrary.org/obo/DOID_0111342	dermatopathia pigmentosa reticularis	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2.
http://purl.obolibrary.org/obo/DOID_0111343	lateral meningocele syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.12.
http://purl.obolibrary.org/obo/DOID_0111344	myeloproliferative disorder with eosinophilia	http://purl.obolibrary.org/obo/DOID_2226	myeloproliferative neoplasm		A myeloproliferative neoplasm characterized by chronic proliferation of myeloid cells and eosinophilia in the peripheral blood and bone marrow that has_material_basis_in a fusion of the ETV6 and PDGFRB genes formed by a translocation from chromosome 12 to chromosome 5q32.
http://purl.obolibrary.org/obo/DOID_0111345	transient bullous dermolysis of the newborn	http://purl.obolibrary.org/obo/DOID_4959	epidermolysis bullosa dystrophica		An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31.
http://purl.obolibrary.org/obo/DOID_0111346	epidermolysis bullosa simplex 2F with mottled pigmentation	http://purl.obolibrary.org/obo/DOID_4644	epidermolysis bullosa simplex		An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in the keratin-5 gene (KRT5) on chromosome 12q13.13.
http://purl.obolibrary.org/obo/DOID_0111347	epidermolysis bullosa with congenital localized absence of skin and deformity of nails	http://purl.obolibrary.org/obo/DOID_0080224	autosomal dominant dystrophic epidermolysis bullosa		An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in the COL7A1 gene on chromosome 3p21.31.
http://purl.obolibrary.org/obo/DOID_0111348	multiple epiphyseal dysplasia with myopia and deafness	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.
http://purl.obolibrary.org/obo/DOID_0111349	hereditary desmoid disease	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by extraintestinal manifestation of familial adenomatous polyposis that has_material_basis_in in some cases by extreme 3' mutation in APC on 5q22.2.
http://purl.obolibrary.org/obo/DOID_0111350	Laurin-Sandrow syndrome	http://purl.obolibrary.org/obo/DOID_1934	dysostosis		A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of the LMBR1 gene on chromosome 7q36.3.
http://purl.obolibrary.org/obo/DOID_0111351	D-2-hydroxyglutaric aciduria 1	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3.
http://purl.obolibrary.org/obo/DOID_0111352	D-2-hydroxyglutaric aciduria 2	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A D-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in IDH2 on 15q26.1.
http://purl.obolibrary.org/obo/DOID_0111353	arthrogryposis, renal dysfunction, and cholestasis 1	http://purl.obolibrary.org/obo/DOID_0050763	ARC syndrome		An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VPS33B on 15q26.1.
http://purl.obolibrary.org/obo/DOID_0111354	arthrogryposis, renal dysfunction, and cholestasis 2	http://purl.obolibrary.org/obo/DOID_0050763	ARC syndrome		An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3.
http://purl.obolibrary.org/obo/DOID_0111355	hydrolethalus syndrome 1	http://purl.obolibrary.org/obo/DOID_0050779	hydrolethalus syndrome		A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HYLS1 gene on chromosome 11q24.2.
http://purl.obolibrary.org/obo/DOID_0111356	hydrolethalus syndrome 2	http://purl.obolibrary.org/obo/DOID_0050779	hydrolethalus syndrome		A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KIF7 gene on chromosome 15q26.1.
http://purl.obolibrary.org/obo/DOID_0080696	Winchester syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by a loss of bone tissue particularly in the hands and feet.
http://purl.obolibrary.org/obo/DOID_0080697	Opitz GBBB syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the MID1 gene on chromosome Xp22.
http://purl.obolibrary.org/obo/DOID_0080698	Teebi hypertelorism syndrome 1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2.
http://purl.obolibrary.org/obo/DOID_0080699	glutathione synthetase deficiency	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder characterized by the lack of glutathione production.
http://purl.obolibrary.org/obo/DOID_0080700	caudal regression syndrome	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		A physical disorder that is characterized by impairment of the development of the lower half of the body.
http://purl.obolibrary.org/obo/DOID_0080702	medulloblastoma WNT activated	http://purl.obolibrary.org/obo/DOID_0050902	medulloblastoma		A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent.
http://purl.obolibrary.org/obo/DOID_0080703	medulloblastoma SHH activated	http://purl.obolibrary.org/obo/DOID_0050902	medulloblastoma		A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent.
http://purl.obolibrary.org/obo/DOID_0080704	medulloblastoma SHH activated and TP53 mutant	http://purl.obolibrary.org/obo/DOID_0080703	medulloblastoma SHH activated		A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations.
http://purl.obolibrary.org/obo/DOID_0080705	medulloblastoma SHH activated and TP53 wild-type	http://purl.obolibrary.org/obo/DOID_0080703	medulloblastoma SHH activated		A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations.
http://purl.obolibrary.org/obo/DOID_0080706	medulloblastoma non-WNT/non-SHH	http://purl.obolibrary.org/obo/DOID_0050902	medulloblastoma		A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent.
http://purl.obolibrary.org/obo/DOID_0080707	medulloblastoma non-WNT/non-SHH group 3	http://purl.obolibrary.org/obo/DOID_0080706	medulloblastoma non-WNT/non-SHH		A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present.
http://purl.obolibrary.org/obo/DOID_0080708	medulloblastoma non-WNT/non-SHH group 4	http://purl.obolibrary.org/obo/DOID_0080706	medulloblastoma non-WNT/non-SHH		A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 gene mutations, while chromosome 17 abnormalities may be present.
http://purl.obolibrary.org/obo/DOID_0111898	CK syndrome	http://purl.obolibrary.org/obo/DOID_3146	lipid metabolism disorder		A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that has_material_basis_in hemizygous mutation in the NSDHL gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0111899	X-linked thrombophilia due to factor IX defect	http://purl.obolibrary.org/obo/DOID_2452	thrombophilia		A thrombophilia characterized by normal levels of F9 antigen, but very high levels of F9 activity that has_material_basis_in hemizygous gain of function mutation in F9 on chromosome Xq27.1.
http://purl.obolibrary.org/obo/DOID_0111900	autosomal dominant thrombophilia due to protein S deficiency	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROS1 gene on chromosome 3q11.1.
http://purl.obolibrary.org/obo/DOID_0111901	heparin cofactor II deficiency	http://purl.obolibrary.org/obo/DOID_2452	thrombophilia		A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in the HCF2 gene on chromosome 22q11.21.
http://purl.obolibrary.org/obo/DOID_0111902	thrombophilia due to activated protein C resistance	http://purl.obolibrary.org/obo/DOID_2452	thrombophilia		A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2.
http://purl.obolibrary.org/obo/DOID_0111903	thrombophilia due to HRG deficiency	http://purl.obolibrary.org/obo/DOID_2452	thrombophilia		A thrombophilia characterized by decreased histidine-rich glycoprotein (HRG) plasma levels and a tendency to develop thrombosis that has_material_basis_in heterozygous mutation in HRG on chromosome 3q27.3.
http://purl.obolibrary.org/obo/DOID_0111904	autosomal recessive thrombophilia due to protein C deficiency	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A protein C deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that has_material_basis_in homozygous or compound heterozygous mutation in the PROC gene on chromosome 2q14.3.
http://purl.obolibrary.org/obo/DOID_0111905	autosomal recessive thrombophilia due to protein S deficiency	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the PROS1 gene on chromosome 3q11.1.
http://purl.obolibrary.org/obo/DOID_0111906	thrombophilia due to decreased release of PLAT	http://purl.obolibrary.org/obo/DOID_2452	thrombophilia		A thrombophilia characterized by impaired capacity for release of fibrinolytic activity from the blood vessel walls.
http://purl.obolibrary.org/obo/DOID_0111907	thrombophilia due to thrombin defect	http://purl.obolibrary.org/obo/DOID_2452	thrombophilia		A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2.
http://purl.obolibrary.org/obo/DOID_0111908	thrombophilia due to thrombomodulin defect	http://purl.obolibrary.org/obo/DOID_2452	thrombophilia		A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in the THBD gene on chromosome 20p11.21.
http://purl.obolibrary.org/obo/DOID_0111909	autosomal dominant thrombophilia due to protein C deficiency	http://purl.obolibrary.org/obo/DOID_3756	protein C deficiency		A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.3.
http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure	http://purl.obolibrary.org/obo/DOID_12336	male infertility		A male infertility characterized by disruption of the process of sperm development from diploid cells into mature haploid spermatozoa.
http://purl.obolibrary.org/obo/DOID_0111911	spermatogenic failure 34	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the FSIP2 gene on chromosome 2q32.1.
http://purl.obolibrary.org/obo/DOID_0111912	spermatogenic failure 41	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by oligozoospermia and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP70 gene on chromosome 10q22.2.
http://purl.obolibrary.org/obo/DOID_0111913	spermatogenic failure 30	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by nonobstructive azoospermia or cryptozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TDRD9 gene on chromosome 14q32.33.
http://purl.obolibrary.org/obo/DOID_0111914	spermatogenic failure 35	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely impaired sperm motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the QRICH2 gene on chromosome 17q25.1.
http://purl.obolibrary.org/obo/DOID_0111915	spermatogenic failure 33	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the WDR66 gene on chromosome 12q24.31.
http://purl.obolibrary.org/obo/DOID_0111916	spermatogenic failure 28	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by nonobstructive azoospermia and a Sertoli cell-only phenotype in testes that has_material_basis_in homozygous or compound heterozygous mutation in the FANCM gene on chromosome 14q21.2.
http://purl.obolibrary.org/obo/DOID_0111917	spermatogenic failure 43	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in absence of forward motility in spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the SPEF2 gene on chromosome 5p13.2.
http://purl.obolibrary.org/obo/DOID_0111918	spermatogenic failure 40	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely reduced to absent sperm motility and abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP65 gene on chromosome 2q35.
http://purl.obolibrary.org/obo/DOID_0111919	spermatogenic failure 38	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in infertility and asthenoteratozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC2 gene on chromosome 6q21.
http://purl.obolibrary.org/obo/DOID_0111920	spermatogenic failure 25	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by maturation arrest at the primary spermatocyte stage resulting in severe oligozoospermia or azoospermia, small testes, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TEX15 gene on chromosome 8p12.
http://purl.obolibrary.org/obo/DOID_0111921	spermatogenic failure 36	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by spermatozoa showing anomalies of the head, acrosome, and nucleus of the sperm resulting in reduced fertility that has_material_basis_in heterozygous mutation in the PPP2R3C gene on chromosome 14q13.2.
http://purl.obolibrary.org/obo/DOID_0111922	spermatogenic failure 31	http://purl.obolibrary.org/obo/DOID_0112311	male infertility due to acephalic spermatozoa		A male failure due to acephalic spermatozoa that is characterized by oligozoospermia with a high proportion of acephalic sperm that has_material_basis_in homozygous or compound heterozygous mutation in the PMFBP1 gene on chromosome 16q22.2.
http://purl.obolibrary.org/obo/DOID_0111923	spermatogenic failure 42	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severly impaired sperm progressive motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TTC29 gene on chromosome 4q31.22.
http://purl.obolibrary.org/obo/DOID_0111924	spermatogenic failure 26	http://purl.obolibrary.org/obo/DOID_0112311	male infertility due to acephalic spermatozoa		A spermatogenic failure due to acephalic spermatozoa that is characterized by acephalic spermatozoa due to breakage at the midpiece of the sperm that has_material_basis_in homozygous or compound heterozygous mutation in the TSGA10 gene on chromosome 2q11.2.
http://purl.obolibrary.org/obo/DOID_0111925	spermatogenic failure 32	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by nonobstructive azoospermia, absence of spermatogenic cells and a Sertoli cell-only phenotype in testes that has_material_basis_in heterozygous mutation in the SOHLH1 gene on chromosome 9q34.3.
http://purl.obolibrary.org/obo/DOID_0111926	spermatogenic failure 39	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by multiple morphologic anomalies of the sperm flagellum, lack of the outer dynein arms in the flagella, and asthenozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH17 gene on chromosome 17q25.3.
http://purl.obolibrary.org/obo/DOID_0111927	spermatogenic failure 37	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, asthenoteratozoospermia, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21A gene on chromosome 3p22.2.
http://purl.obolibrary.org/obo/DOID_0111928	spermatogenic failure 27	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in AK7 on chromosome 14q32.2.
http://purl.obolibrary.org/obo/DOID_0111929	spermatogenic failure 24	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, malformed sperm heads, and very low sperm counts that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP69 gene on chromosome 7q21.13.
http://purl.obolibrary.org/obo/DOID_0111930	spermatogenic failure 29	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by nonobstructive azoospermia or oligozoospermia, immotile sperm, and sperm acrosome and head-neck junction abnormalities that has_material_basis_in homozygous or compound geterozygous mutation in the SPINK2 gene on chromosome 4q12.
http://purl.obolibrary.org/obo/DOID_0081001	Cowden syndrome 5	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Cowden syndrome that has_material_basis_in heterozygous mutation in the PIK3CA gene on chromosome 3q26.
http://purl.obolibrary.org/obo/DOID_0081004	high-grade B-cell lymphoma double-hit/triple-hit	http://purl.obolibrary.org/obo/DOID_0081452	large B-cell lymphoma		A large B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes.
http://purl.obolibrary.org/obo/DOID_0081360	spastic quadriplegic cerebral palsy 2	http://purl.obolibrary.org/obo/DOID_10970	spastic quadriplegic cerebral palsy		A spastic quadriplegic cerebral palsy that has_material_basis_in deletion of the ANKRD15 gene (KANK1) inherited on the paternal allele.
http://purl.obolibrary.org/obo/DOID_0060920	otosclerosis 1	http://purl.obolibrary.org/obo/DOID_12185	otosclerosis		An otosclerosis that is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule and that has_material_basis_in the locus associated with otosclerosis-1 gene (OTSC1) on chromosome 15q26.1.
http://purl.obolibrary.org/obo/DOID_0060921	otosclerosis 2	http://purl.obolibrary.org/obo/DOID_12185	otosclerosis		An otosclerosis that has_material_basis_in the locus associated with otosclerosis-2 gene (OTSC2) on chromosome 7q.
http://purl.obolibrary.org/obo/DOID_0060922	otosclerosis 3	http://purl.obolibrary.org/obo/DOID_12185	otosclerosis		An otosclerosis that has_material_basis_in the locus associated with otosclerosis-3 gene (OTSC3) on loci chromosome 6p.
http://purl.obolibrary.org/obo/DOID_0060923	otosclerosis 4	http://purl.obolibrary.org/obo/DOID_12185	otosclerosis		An otosclerosis that has_material_basis_in the locus associated with otosclerosis-4 gene (OTSC4) on loci chromosome 16q.
http://purl.obolibrary.org/obo/DOID_0060924	otosclerosis 5	http://purl.obolibrary.org/obo/DOID_12185	otosclerosis		An otosclerosis that is characterized by conductive hearing impairment and that has_material_basis_in the locus associated with otosclerosis-5 gene (OTSC5) on loci 3q22-q24.
http://purl.obolibrary.org/obo/DOID_0060925	otosclerosis 7	http://purl.obolibrary.org/obo/DOID_12185	otosclerosis		An otosclerosis that has_material_basis_in the locus associated with otosclerosis-7 gene (OTSC7) on loci chromosome 6q13.
http://purl.obolibrary.org/obo/DOID_0060926	otosclerosis 8	http://purl.obolibrary.org/obo/DOID_12185	otosclerosis		An otosclerosis that has_material_basis_in the locus associated with otosclerosis-8 gene (OTSC8) on loci chromosome 9p13.1-q21.11.
http://purl.obolibrary.org/obo/DOID_0060927	otosclerosis 10	http://purl.obolibrary.org/obo/DOID_12185	otosclerosis		An otosclerosis that has_material_basis_in the locus associated with otosclerosis-10 gene (OTSC10) on loci chromosome 1q41-q44.
http://purl.obolibrary.org/obo/DOID_0060928	otosclerosis 11	http://purl.obolibrary.org/obo/DOID_12185	otosclerosis		An otosclerosis that is characterized by onset of progressive hearing loss in the second to third decade of life and that has_material_basis_in the locus associated with Forkhead Box L1 gene (FOXL1) on chromosome 16q24.
http://purl.obolibrary.org/obo/DOID_0060929	non-syndromic X-linked intellectual developmental disorder 111	http://purl.obolibrary.org/obo/DOID_0050776	non-syndromic X-linked intellectual disability		A non-syndromic X-linked intellectual disability characterized by different degrees of impaired intellectual development associated with motor, speech and behavioral impairments that has_material_basis_in hemizygous or heterozygous mutation in the SLITRK2 gene on chromosome Xq27.
http://purl.obolibrary.org/obo/DOID_0070509	Schinzel Giedion syndrome	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3.
http://purl.obolibrary.org/obo/DOID_0070510	inflammatory poikiloderma with hair abnormalities and acral keratoses	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease characterized by mottled hyper- and hypopigmentation of the skin, sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses that has_material_basis_in homozygous mutation in the LTV1 gene on chromosome 6q24.2.
http://purl.obolibrary.org/obo/DOID_0070511	polyhydramnios, megalencephaly, and symptomatic epilepsy	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has_material_basis_in homozygous mutation in the STRADA gene on chromosome 17q23.3.
http://purl.obolibrary.org/obo/DOID_0070512	neurodevelopmental disorder with hypotonia and speech delay	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by global developmental delay, impaired intellectual development with poor or absent speech, and fine and gross motor delay that has_material_basis_in heterozygous or compound heterozygous mutation in the EIF4A2 gene on chromosome 3q27.3.
http://purl.obolibrary.org/obo/DOID_0070513	neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SRSF1 gene on chromosome 17q22.
http://purl.obolibrary.org/obo/DOID_0070514	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder characterized by developmental delay, intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features that has_material_basis_in heterozygous mutation in the BPTF gene on chromosome 17q24.2.
http://purl.obolibrary.org/obo/DOID_0070515	chromosome 16p11.2 deletion syndrome, 593-kb	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb).
http://purl.obolibrary.org/obo/DOID_0070516	Mitchell syndrome	http://purl.obolibrary.org/obo/DOID_906	peroxisomal disease		A peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that has_material_basis_in heterozygous mutation in the ACOX1 gene on chromosome 17q25.1.
http://purl.obolibrary.org/obo/DOID_0081395	Harel-Yoon syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0081396	neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and that has_material_basis_in compound heterozygous mutation in the ATAD3A gene on chromosome 1p36.33.
http://purl.obolibrary.org/obo/DOID_0081397	Vissers-Bodmer syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by global developmental delay with variably impaired intellectual development, speech delay, motor delay, and behavioral abnormalities apparent from infancy and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21.
http://purl.obolibrary.org/obo/DOID_0081398	holoprosencephaly 12	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A holoprosencephaly that is characterized by abnormal separation of the embryonic forebrain resulting in dysmorphic facial features and often, but not always, impaired neurologic development and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21.
http://purl.obolibrary.org/obo/DOID_0070522	peeling skin syndrome 3	http://purl.obolibrary.org/obo/DOID_0060283	peeling skin syndrome		A peeling skin syndrome that has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 19q13.
http://purl.obolibrary.org/obo/DOID_0060933	developmental delay, dysmorphic facies, and brain anomalies	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumference that has_material_basis_in heterozygous mutation in the U2AF2 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0060934	neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia that has_material_basis_in homozygous mutation in the TRAPPC6B gene on chromosome 14q21.
http://purl.obolibrary.org/obo/DOID_0060935	infantile hypotonia with psychomotor retardation and characteristic facies-3	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder characterized by very poor, if any, psychomotor development, poor speech, inability to walk independently and onset at birth or in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the TBCK gene on chromosome 4q24.
http://purl.obolibrary.org/obo/DOID_0060936	dystonia 28, childhood-onset	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia characterized by onset of progressive dystonia in the first decade of life resulting in gait upper limbs, neck, and orofacial region difficulties, elongated face with bulbous nose, some have abnormal eye movements and potential delayed motor and/or cognitive development with mild intellectual disability that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0060937	dystonia 30	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia characterized by the onset of symptoms in the first decades of life, with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. Some patients may lose ambulation and have neurocognitive impairment, including mild intellectual disability or psychiatric manifestations with has_material_basis_in heterozygous mutation in the VPS16 gene on chromosome 20p13.
http://purl.obolibrary.org/obo/DOID_0060938	dystonia 31	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia characterized by age at onset ranges from childhood to young adulthood with involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the AOPEP gene on chromosome 9q22.
http://purl.obolibrary.org/obo/DOID_0060939	dystonia 32	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia characterized by onset of symptoms in adulthood, sustained or intermittent muscle contractions causing abnormal movements or posturing. The disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23.
http://purl.obolibrary.org/obo/DOID_0060940	dystonia 33	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia characterized by a neurologic disorder with onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence) that has_material_basis_in heterozygous mutation in the EIF2AK2 gene on chromosome 2p22.
http://purl.obolibrary.org/obo/DOID_0060944	episodic kinesigenic dyskinesia 3	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia characterized by dystonia, chorea, athetosis, and other hyperkinetic movements that has_material_basis_in heterozygous mutation in the TMEM151A gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0060955	dystonia 35, childhood-onset	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia characterized by the onset of a dystonic movement disorder in the first year of life that has_material_basis_in compound heterozygous mutation in the SHQ1 gene on chromosome 3p13.
http://purl.obolibrary.org/obo/DOID_0060956	dystonia 37, early-onset with striatal lesions	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutations in the NUP54 gene on chromosome 4q21.
http://purl.obolibrary.org/obo/DOID_0060957	myoclonic dystonia 34	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia characterized by childhood-onset dystonia primarily involving the hands and neck, with a fast tremor with superimposed myoclonus that has_material_basis_in heterozygous mutation in the KCNN2 gene on chromosome 5q22.
http://purl.obolibrary.org/obo/DOID_0060966	dystonia 22, juvenile-onset	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia characterized by progressive, generalized dystonia associated with cognitive decline and cerebellar atrophy on brain imaging that has_material_basis_in homozygous loss-of-function mutation in the TSPOAP1 gene (610764) on chromosome 17q22.
http://purl.obolibrary.org/obo/DOID_0060967	dystonia 22, adult-onset	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia characterized by focal dystonia or tremor and mild cognitive impairment that has_material_basis_in homozygous missense mutation in the TSPOAP1 gene.
http://purl.obolibrary.org/obo/DOID_0070533	long QT syndrome 16	http://purl.obolibrary.org/obo/DOID_2843	long QT syndrome		A long QT syndrome characterized by perinatal onset of markedly prolonged corrected QT (QTc) interval, 2:1 atrioventricular (AV) block, and bradycardia or ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CALM3 gene on chromosome 19q13.32. Syncope, cardiac arrest, and sudden death are common.
http://purl.obolibrary.org/obo/DOID_0070534	arrhythmogenic left ventricular cardiomyopathy	http://purl.obolibrary.org/obo/DOID_0060036	intrinsic cardiomyopathy		An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty left ventricular myocardium and ventricular arrhythmias with a right bundle branch block pattern, with limited to no involvement of the right ventricle.
http://purl.obolibrary.org/obo/DOID_0070535	arrhythmogenic biventricular cardiomyopathy	http://purl.obolibrary.org/obo/DOID_0060036	intrinsic cardiomyopathy		An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty replacement in both the left and right ventricular myocardium, with ventricular arrhythmias with left and right bundle branch block patterns.
http://purl.obolibrary.org/obo/DOID_0070536	neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder characterized by behavioral abnormalities and developmental delay ranging from mild-to-moderate impaired intellectual development with expressive language delay to severly impaired intellectual development, severe hypotonia with delayed walking or inability to walk, and poor or absent speech that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33.
http://purl.obolibrary.org/obo/DOID_0070537	spastic tetraplegia, thin corpus callosum, and progressive microcephaly	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder characterized by neonatal or infantile onset of spastic tetraplegia, thin corpus callosum, progressive microcephaly, and severely impaired global development that has_material_basis_in homozygous or compound heterozygous mutation in the SLC1A4 gene on chromosome 2p14.
http://purl.obolibrary.org/obo/DOID_0070538	syndromic X-linked intellectual developmental disorder bain type	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked syndromic intellectual disability characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, and musculoskeletal and growth abnormalities that has_material_basis_in heterozygous mutation in the HNRNPH2 gene on chromosome Xq22.1.
http://purl.obolibrary.org/obo/DOID_0070539	Halperin-Birk syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy that has_material_basis_in homozygous mutation in the SEC31A gene on chromosome 4q21.22.
http://purl.obolibrary.org/obo/DOID_0081430	intellectual developmental disorder with autistic features and language delay, with or without seizures	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, variable intellectual disability, impaired speech development, and behavioral abnormalities, most commonly on the autism spectrum and that has_material_basis_in heterozygous mutation in the TANC2 gene on chromosome 17q23.
http://purl.obolibrary.org/obo/DOID_0081431	microcephaly, short stature, and limb abnormalities	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that is characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray and that has_material_basis_in homozygous or compound heterozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly-micromelia syndrome, a more severe disorder that usually results in intrauterine or perinatal death.
http://purl.obolibrary.org/obo/DOID_0081432	microcephaly-micromelia syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by intrauterine growth retardation (IUGR), marked microcephaly, craniosynostosis, and severe malformation of the limbs, especially the arms and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly, short stature, and limb abnormalities, a less severe disorder.
http://purl.obolibrary.org/obo/DOID_0081433	Peroxisome biogenesis disorder 4B	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1, or overexpression of a heterozygous mutation in PEX6 due to allelic expression imbalance resulting from a polymorphism on the mutant allele in the PEX6 3-prime UTR.
http://purl.obolibrary.org/obo/DOID_0081434	Peroxisome biogenesis disorder 5B	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX2 gene on chromosome 8q21.
http://purl.obolibrary.org/obo/DOID_0081435	Peroxisome biogenesis disorder 6B	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX10 gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0081436	Peroxisome biogenesis disorder 7B	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11.21.
http://purl.obolibrary.org/obo/DOID_0081437	Peroxisome biogenesis disorder 8B	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11.
http://purl.obolibrary.org/obo/DOID_0081438	Peroxisome biogenesis disorder 9B	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.
http://purl.obolibrary.org/obo/DOID_0081439	Peroxisome biogenesis disorder 11B	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15.
http://purl.obolibrary.org/obo/DOID_0081440	Peroxisome biogenesis disorder 10B	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX3 gene on chromosome 6q24.
http://purl.obolibrary.org/obo/DOID_0081441	Nicolaides-Baraitser syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by severely impaired intellectual development, early-onset seizures, short stature, dysmorphic facial features, and sparse hair and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24.
http://purl.obolibrary.org/obo/DOID_0081442	blepharophimosis-impaired intellectual development syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by a distinct facial appearance with blepharophimosis and global development delay and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24.
http://purl.obolibrary.org/obo/DOID_0081443	Stolerman neurodevelopmental syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by developmental delay, often with motor and speech delay, mildly impaired intellectual development (in most patients), learning difficulties, and behavioral abnormalities, including autism spectrum disorder and that has_material_basis_in heterozygous mutation in the KDM6B gene on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0081444	neurodevelopmental disorder with poor growth and behavioral abnormalities	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormalities, including hyperactivity, short attention span, and ADHD and that has_material_basis_in homozygous or compound heterozygous mutation in the ATP9A gene on chromosome 20q13.
http://purl.obolibrary.org/obo/DOID_0070546	primary pigmented nodular adrenocortical disease 1	http://purl.obolibrary.org/obo/DOID_0060280	primary pigmented nodular adrenocortical disease		A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PRKAR1A gene on chromosome 17q24.2.
http://purl.obolibrary.org/obo/DOID_0070552	epidermolytic palmoplantar keratoderma 1	http://purl.obolibrary.org/obo/DOID_0080223	epidermolytic palmoplantar keratoderma		An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT9 gene on chromosome 17q12.2.
http://purl.obolibrary.org/obo/DOID_0070587	spermatogenic failure 88	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by nonobstructive azoospermia due to prepachytene meiotic arrest of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the KASH5 gene on chromosome 19q13.33.
http://purl.obolibrary.org/obo/DOID_0070618	rhabdoid tumor predisposition syndrome 1	http://purl.obolibrary.org/obo/DOID_0070617	rhabdoid tumor predisposition syndrome		A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCB1 gene on chromosome 22q11.
http://purl.obolibrary.org/obo/DOID_0061001	glycine encephalopathy 2	http://purl.obolibrary.org/obo/DOID_9268	glycine encephalopathy		A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the AMT gene, which encodes a member of the glycine cleavage system (protein T), on chromosome 3p21.
http://purl.obolibrary.org/obo/DOID_0051001	congenital dyserythropoietic anemia type IIIb	http://purl.obolibrary.org/obo/DOID_1338	congenital dyserythropoietic anemia		A congenital dyserythropoietic anemia characterized by macrocytic anemia, aberrant giant multinucleated erythroblasts in the bone marrow, and skull defects secondary to severe anemia with ineffective erythropoiesis and that has_material_basis_in homozygous or compound heterozygous mutation in the RACGAP1 gene on chromosome 12q13.
http://purl.obolibrary.org/obo/TRANS_0000025	copepod borne transmission	http://purl.obolibrary.org/obo/TRANS_0000005	vector-borne transmission		Copepod borne transmission is a vector-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an animate intermediary copepod vector to another host.
http://purl.obolibrary.org/obo/SYMP_0000429	bradypnea	http://purl.obolibrary.org/obo/SYMP_0000598	respiratory abnormality		A respiratory abnormality that is characterized by abnormally slow breathing.
http://purl.obolibrary.org/obo/SYMP_0000646	synovitis	http://purl.obolibrary.org/obo/SYMP_0000313	joint inflammation		Synovitis is a joint inflammation characterized by an inflammation of a synovial membrane usually with pain and swelling of the joint.
http://purl.obolibrary.org/obo/DOID_0080184	mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma	http://purl.obolibrary.org/obo/DOID_4926	bronchiolo-alveolar adenocarcinoma		A bronchiolo-alveolar adenocarcinoma that is characterized by a mixed array of different patterns (acinar, papillary, bronchioloalveolar, solid with mucin).
http://purl.obolibrary.org/obo/DOID_0080185	mucinous bronchioloalveolar adenocarcinoma	http://purl.obolibrary.org/obo/DOID_4926	bronchiolo-alveolar adenocarcinoma		A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion.
http://purl.obolibrary.org/obo/DOID_0080186	nonmucinous bronchioloalveolar adenocarcinoma	http://purl.obolibrary.org/obo/DOID_4926	bronchiolo-alveolar adenocarcinoma		A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation.
http://purl.obolibrary.org/obo/DOID_0080187	chronic neutrophilic leukemia	http://purl.obolibrary.org/obo/DOID_1036	chronic leukemia		A chronic leukemia characterized by neutrophilic leukocytosis with no detectable Philadelphia chromosome or BCR/ABL fusion gene.
http://purl.obolibrary.org/obo/DOID_0080188	chronic myelomonocytic leukemia	http://purl.obolibrary.org/obo/DOID_1036	chronic leukemia		A chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood.
http://purl.obolibrary.org/obo/DOID_0080189	malignant hemangioma	http://purl.obolibrary.org/obo/DOID_175	vascular cancer		A cell type cancer of vascular origin that is characterized by the proliferation of endothelial cells in and about the vascular lumen.
http://purl.obolibrary.org/obo/DOID_0080190	malignant epithelioid hemangioendothelioma	http://purl.obolibrary.org/obo/DOID_0080189	malignant hemangioma		A malignant hemangioma characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma.
http://purl.obolibrary.org/obo/DOID_0080192	relapsed/refractory diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/DOID_0050745	diffuse large B-cell lymphoma		A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission.
http://purl.obolibrary.org/obo/DOID_0080199	colorectal carcinoma	http://purl.obolibrary.org/obo/DOID_9256	colorectal cancer		A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa.
http://purl.obolibrary.org/obo/DOID_0080200	bilateral renal aplasia	http://purl.obolibrary.org/obo/DOID_14766	renal agenesis		A renal agenesis that is characterized by the absence of both kidneys at birth.
http://purl.obolibrary.org/obo/DOID_0080201	Peters plus syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability.
http://purl.obolibrary.org/obo/DOID_0080352	X-linked chondrodysplasia punctata 2	http://purl.obolibrary.org/obo/DOID_2581	chondrodysplasia punctata		A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11.
http://purl.obolibrary.org/obo/DOID_0080353	X-linked recessive hypophosphatemic rickets	http://purl.obolibrary.org/obo/DOID_10609	rickets		A rickets that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11.22.
http://purl.obolibrary.org/obo/ECO_0007636	curator inference from database	http://purl.obolibrary.org/obo/ECO_0007647	curator inference from authoritative source		A type of curator inference from authoritative resource based on information located in a queryable database and is optimized for computers.
http://purl.obolibrary.org/obo/ECO_0007637	curator inference from encyclopedia	http://purl.obolibrary.org/obo/ECO_0007647	curator inference from authoritative source		A type of curator inference from published work where the reference is to an entry in a compendium that provides summarized information on a subject.
http://purl.obolibrary.org/obo/ECO_0007638	curator inference from Wikipedia	http://purl.obolibrary.org/obo/ECO_0007637	curator inference from encyclopedia		A type of curator inference from encyclopedia where the reference is to a Wikipedia article.
http://purl.obolibrary.org/obo/ECO_0007639	curator inference from Britannica	http://purl.obolibrary.org/obo/ECO_0007637	curator inference from encyclopedia		A type of curator inference from encyclopedia where the reference is to an Encyclopedia Britannica article.
http://purl.obolibrary.org/obo/ECO_0007640	curator inference from MedlinePlus encyclopedia	http://purl.obolibrary.org/obo/ECO_0007637	curator inference from encyclopedia		A type of curator inference from encyclopedia in which the reference is to an article in the National Library of Medicine's MedLinePlus encyclopedia.
http://purl.obolibrary.org/obo/ECO_0007641	curator inference from dictionary	http://purl.obolibrary.org/obo/ECO_0007647	curator inference from authoritative source		A type of curator inference from published work in which the entry comes from a collection of words with definitions, usages, pronounciations, and more.
http://purl.obolibrary.org/obo/ECO_0007642	curator inference from Oxford Dictionary	http://purl.obolibrary.org/obo/ECO_0007641	curator inference from dictionary		A type of curator inference from dictionary in which the reference is to an entry in the Oxford Dictionaries.
http://purl.obolibrary.org/obo/ECO_0007643	curator inference from Merriam-Webster Dictionary	http://purl.obolibrary.org/obo/ECO_0007641	curator inference from dictionary		A type of curator inference from dictionary in which the reference is to an entry in the Merriam-Webster Dictionary.
http://purl.obolibrary.org/obo/ECO_0007644	curator inference from MedlinePlus dictionary	http://purl.obolibrary.org/obo/ECO_0007641	curator inference from dictionary		A type of curator inference from dictionary in which the reference is to an entry in the National Library of Medicine's MedLinePlus dictionary.
http://purl.obolibrary.org/obo/ECO_0007645	curator inference from journal publication	http://purl.obolibrary.org/obo/ECO_0007647	curator inference from authoritative source		A type of curator inference from published work reporting on research findings.
http://purl.obolibrary.org/obo/ECO_0007646	curator inference from book	http://purl.obolibrary.org/obo/ECO_0007647	curator inference from authoritative source		A type of curator inference from published work based on a book, which may be a reference to a URL (for ebooks) or a DOI.
http://purl.obolibrary.org/obo/ECO_0007647	curator inference from authoritative source	http://purl.obolibrary.org/obo/ECO_0000000	evidence		A type of curator inference that is from what is generally considered an authoritative source on the topic, including model organism databases, newspaper articles, books, journal publications, etc.
http://purl.obolibrary.org/obo/HP_0410280	Pediatric onset	http://purl.obolibrary.org/obo/HP_0003674	onset		Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset.
http://purl.obolibrary.org/obo/DOID_0080614	oculocutaneous albinism type VI	http://purl.obolibrary.org/obo/DOID_0050632	oculocutaneous albinism		An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of the SLC24A5 gene on chromosome 15q21.1.
http://purl.obolibrary.org/obo/DOID_0112102	Sotos syndrome 2	http://purl.obolibrary.org/obo/DOID_14748	Sotos syndrome		A Sotos syndrome that has_material_basis_in heterozygous mutation in the NFIX gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0112103	Sotos syndrome 1	http://purl.obolibrary.org/obo/DOID_14748	Sotos syndrome		A Sotos syndrome that has_material_basis_in heterozygous mutation in the NSD1 gene or deletion in the chromosome region 5q35 that includes the NSD1 gene.
http://purl.obolibrary.org/obo/DOID_0112104	Sotos syndrome 3	http://purl.obolibrary.org/obo/DOID_14748	Sotos syndrome		A Sotos syndrome that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13.3.
http://purl.obolibrary.org/obo/DOID_0112105	X-linked parkinsonism-spasticity syndrome	http://purl.obolibrary.org/obo/DOID_480	movement disease		A movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.4.
http://purl.obolibrary.org/obo/DOID_0112106	chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	http://purl.obolibrary.org/obo/DOID_0080352	X-linked chondrodysplasia punctata 2		A syndrome characterized by chondrodysplasia associated with other features including intrauterine growth retardation, hydrocephaly, macrocephaly, frontal bossing, microphthalmia, small low-set ears, and short flat nose that has_material_basis_in heterozygous mutation in the HDAC6 gene on chromosome Xp11.23.
http://purl.obolibrary.org/obo/DOID_0112107	McLeod syndrome	http://purl.obolibrary.org/obo/DOID_0050765	neuroacanthocytosis		A neuroacanthocytosis characterized by absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, compensated hemolysis, and involuntary movements that has_material_basis_in mutation in XK on chromosome Xp21.1.
http://purl.obolibrary.org/obo/DOID_0112108	myofibrillar myopathy 10	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A myofibrillar myopathy characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the SVIL gene on chromosome 10p11.23.
http://purl.obolibrary.org/obo/DOID_0112109	spermatogenic failure 44	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by high prevalence of acephalic sperm and reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the CEP112 gene on chromosome 17q24.1.
http://purl.obolibrary.org/obo/DOID_0112110	combined oxidative phosphorylation deficiency 49	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MIEF2 gene on chromosome 17p11.2.
http://purl.obolibrary.org/obo/DOID_0112111	combined oxidative phosphorylation deficiency 50	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS25 gene on chromosome 3p25.1.
http://purl.obolibrary.org/obo/DOID_0112112	combined oxidative phosphorylation deficiency 48	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NSUN3 gene on chromosome 3q11.2.
http://purl.obolibrary.org/obo/DOID_0112113	combined oxidative phosphorylation deficiency 45	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL12 gene on chromosome 17q25.3.
http://purl.obolibrary.org/obo/DOID_0112114	combined oxidative phosphorylation deficiency 47	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS28 gene on chromosome 8q21.13.
http://purl.obolibrary.org/obo/DOID_0112115	combined oxidative phosphorylation deficiency 46	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS23 gene on chromosome 17q22.
http://purl.obolibrary.org/obo/DOID_0112116	combined oxidative phosphorylation deficiency 43	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMM22 gene on chromosome 17p13.3.
http://purl.obolibrary.org/obo/DOID_0112117	combined oxidative phosphorylation deficiency 40	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the QRSL1 gene on chromosome 6q21.
http://purl.obolibrary.org/obo/DOID_0112118	combined oxidative phosphorylation deficiency 42	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATC gene on chromosome 12q24.31.
http://purl.obolibrary.org/obo/DOID_0112119	combined oxidative phosphorylation deficiency 41	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATB gene on chromosome 4q31.3.
http://purl.obolibrary.org/obo/DOID_0112120	SHOX-related short stature	http://purl.obolibrary.org/obo/DOID_0080006	bone development disease		A bone development disease characterized by height below the third percentile for chronological age that has_material_basis_in mutation in the SHOX gene or the SHOXY gene on chromosomes Xp22.33 and Yp11.2, respectively.
http://purl.obolibrary.org/obo/DOID_0112121	nephrogenic syndrome of inappropriate antidiuresis	http://purl.obolibrary.org/obo/DOID_447	renal tubular transport disease		A renal tubular transport disease characterized by inappropriate antidiuretic hormone secretion resulting in inability to excrete a free water load, inappropriately concentrated urine, and undetectable or low plasma arginine vasopressin levels that has_material_basis_in hemizygous gain-of-function mutation in the AVPR2 gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0112122	X-linked epilepsy with variable learning disabilities and behavior disorders	http://purl.obolibrary.org/obo/DOID_1826	epilepsy		An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in the SYN1 gene on chromosome Xp11.3-p11.2.
http://purl.obolibrary.org/obo/DOID_0112123	deafness, dystonia, and cerebral hypomyelination	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the Golgi apparatus that has_material_basis_in heterozygous mutation in the BCAP31 gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0112124	X-linked retinitis pigmentosa and sinorespiratory infections	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.4.
http://purl.obolibrary.org/obo/DOID_0112125	alpha-thalassemia myelodysplasia syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by acquired alpha-thalassemia in association with a multilineage myelodysplasia that has_material_basis_in somatic mutation in the ATRX gene on chromosome Xq21.1.
http://purl.obolibrary.org/obo/DOID_0112126	Stocco Dos Santos type X-linked intellectual disability	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that has_material_basis_in mutation in the SHROOM4 gene on chromosome Xp11.22.
http://purl.obolibrary.org/obo/DOID_0112127	HRPT-related hyperuricemia	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in the HPRT1 gene on chromosome Xq26.2-q26.3.
http://purl.obolibrary.org/obo/DOID_0112128	X-linked severe congenital neutropenia	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23.
http://purl.obolibrary.org/obo/DOID_0112129	severe congenital neutropenia 7	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in the CSF3R gene on chromosome 1p34.3.
http://purl.obolibrary.org/obo/DOID_0112130	autosomal dominant severe congenital neutropenia	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene.
http://purl.obolibrary.org/obo/DOID_0112131	severe congenital neutropenia 2	http://purl.obolibrary.org/obo/DOID_0112130	autosomal dominant severe congenital neutropenia		An autosomal dominant severe congenital neutropenia that has_material_basis_in heterozygous mutation in the GFI1 gene on chromosome 1p22.1.
http://purl.obolibrary.org/obo/DOID_0112132	severe congenital neutropenia 5	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has_material_basis_in homozygous or compound heterozygous mutation in the VPS45 gene on chromosome 1q21.2.
http://purl.obolibrary.org/obo/DOID_0112133	severe congenital neutropenia 3	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21.3.
http://purl.obolibrary.org/obo/DOID_0112134	severe congenital neutropenia 6	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the JAGN1 gene on chromosome 3p25.3.
http://purl.obolibrary.org/obo/DOID_0112135	severe congenital neutropenia 8	http://purl.obolibrary.org/obo/DOID_0112130	autosomal dominant severe congenital neutropenia		An autosomal dominant severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that has_material_basis_in heterozygous mutation in the SRP54 gene on chromosome 14q13.2.
http://purl.obolibrary.org/obo/DOID_0112136	severe congenital neutropenia 4	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31.
http://purl.obolibrary.org/obo/DOID_0112137	combined oxidative phosphorylation deficiency 51	http://purl.obolibrary.org/obo/DOID_0060286	combined oxidative phosphorylation deficiency		A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PTCD3 gene on chromosome 2p11.2.
http://purl.obolibrary.org/obo/DOID_0112138	primary coenzyme Q10 deficiency 9	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in the COQ5 gene on chromosome 12q24.31.
http://purl.obolibrary.org/obo/DOID_0112139	nuclear type mitochondrial complex I deficiency 35	http://purl.obolibrary.org/obo/DOID_0060536	mitochondrial complex I deficiency		A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB10 gene on chromosome 16p13.3.
http://purl.obolibrary.org/obo/DOID_0112140	retinitis pigmentosa 83	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa characterized by onset of night blindness in the first decade of life, decreased central vision in the second decade of life, and retinal degeneration that has_material_basis_in heterozygous mutation in ARL3 on chromosome 10q24.32.
http://purl.obolibrary.org/obo/DOID_0112141	retinitis pigmentosa 84	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that has_material_basis_in homozygous or compound heterozygous mutation in the DHX38 gene on chromosome 16q22.2.
http://purl.obolibrary.org/obo/DOID_0112142	retinitis pigmentosa 85	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in AHR on chromosome 7p21.1.
http://purl.obolibrary.org/obo/DOID_0112143	retinitis pigmentosa 86	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity that has_material_basis_in mutation in the KIAA1549 gene on chromosome 7q34.
http://purl.obolibrary.org/obo/DOID_0112144	retinitis pigmentosa 87	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa characterized by slowly progressive visual disturbance and extensive choroid/retinal atrophy that has_material_basis_in heterozygous mutation in the RPE65 gene on chromosome 1p31.3.
http://purl.obolibrary.org/obo/DOID_0112145	retinitis pigmentosa 88	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity that has_material_basis_in homozygous or compound heterozygous mutation in the RP1L1 gene on chromosome 8p23.1.
http://purl.obolibrary.org/obo/DOID_0112146	retinitis pigmentosa 89	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa characterized by onset of retinitis pigmentosa in the first decade of life and additional features of ciliopathy that has_material_basis_in heterozygous mutation in the KIF3B gene on chromosome 20q11.21.
http://purl.obolibrary.org/obo/DOID_0112147	retinitis pigmentosa 90	http://purl.obolibrary.org/obo/DOID_10584	retinitis pigmentosa		A retinitis pigmentosa characterized by onset in the first decade of life of night blindness that has_material_basis_in homozygous or compound heterozygous mutation in the IDH3A gene on chromosome 15q25.1.
http://purl.obolibrary.org/obo/DOID_0112148	Uruguay faciocardiomusculoskeletal syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in the FHL1 gene on chromosome Xq26.3.
http://purl.obolibrary.org/obo/DOID_0112149	terminal osseous dysplasia	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in the FLNA gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0112150	X-linked spondyloepimetaphyseal dysplasia	http://purl.obolibrary.org/obo/DOID_0080027	spondyloepimetaphyseal dysplasia		A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0112151	corpus callosum agenesis-abnormal genitalia syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3.
http://purl.obolibrary.org/obo/DOID_0112152	CHIME syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the PIGL gene on chromosome 17p11.2.
http://purl.obolibrary.org/obo/DOID_0080903	embryonal tumor with multilayered rosettes, C19MC-altered	http://purl.obolibrary.org/obo/DOID_0081286	embryonal tumor with multilayered rosettes		An embryonal tumor with multilayered rosettes that is characterized by the presence of multilayered rosettes formation and the presence of amplification of the C19MC region on chromosome 19 (19q13.42).
http://purl.obolibrary.org/obo/DOID_0112280	spondyloepiphyseal dysplasia	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs.
http://purl.obolibrary.org/obo/DOID_0112308	central precocious puberty	http://purl.obolibrary.org/obo/DOID_28	endocrine system disease		An endocrine system disease characterized by early activation of the hypothalamic-pituitary-gonadal axis resulting in development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys.
http://purl.obolibrary.org/obo/DOID_0112309	central precocious puberty 2	http://purl.obolibrary.org/obo/DOID_0112308	central precocious puberty		A central precocious puberty that has_material_basis_in heterozygous mutation on the paternal allele of the MKRN3 gene on chromosome 15q11.2.
http://purl.obolibrary.org/obo/DOID_0112310	central precocious puberty 1	http://purl.obolibrary.org/obo/DOID_0112308	central precocious puberty		A central precocious puberty that has_material_basis_in heterozygous mutation in the KISS1R gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0081063	DICER1 syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by an increased risk of developing pleuropulmonary blastoma, multinodular goiter, ovarian Sertoli-Leydig cell tumors, and/or other types of tumors, and that has_material_basis_in heterozygous mutation in the DICER1 gene on chromosome 14q32. Mutations of the gene encoding the endoribonuclease, Dicer, disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene expression.
http://purl.obolibrary.org/obo/DOID_0081064	BN2 diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/DOID_0050745	diffuse large B-cell lymphoma		A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding.
http://purl.obolibrary.org/obo/DOID_0081065	EZB diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/DOID_0050745	diffuse large B-cell lymphoma		A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding.
http://purl.obolibrary.org/obo/DOID_0081066	MCD diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/DOID_0050745	diffuse large B-cell lymphoma		A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding.
http://purl.obolibrary.org/obo/DOID_0081067	N1 diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/DOID_0050745	diffuse large B-cell lymphoma		A diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm. This is based on a combination of genetic features. Although N1 DLBCLs always have an activating mutation affecting NOTCH1, LymphGen can assign cases with this mutation to other classes, depending on the presence of other genetic features.
http://purl.obolibrary.org/obo/DOID_0081333	Wiedemann-Rautenstrauch syndrome	http://purl.obolibrary.org/obo/DOID_0081332	progeroid syndrome		A progeroid syndrome that is characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment and that has_material_basis_in compound heterozygous mutation in the POLR3A gene on chromosome 10q22.
http://purl.obolibrary.org/obo/DOID_0070369	restrictive dermopathy 1	http://purl.obolibrary.org/obo/DOID_0060762	restrictive dermopathy		A restrictive dermopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.
http://purl.obolibrary.org/obo/DOID_0070421	neurodevelopmental disorder with spasticity and poor growth	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder characterized by axial hypotonia, delayed psychomotor development, poor feeding, and failure to thrive with onset in early infancy that has_material_basis_in homozygous mutation in the UFC1 gene on chromosome 1q23.
http://purl.obolibrary.org/obo/DOID_0070644	hereditary spastic paraplegia 92	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in homozygous or compound heterozygous mutation in the FICD gene on chromosome 12q23.
http://purl.obolibrary.org/obo/DOID_0061154	Mulvihill-Smith syndrome	http://purl.obolibrary.org/obo/DOID_0081332	progeroid syndrome		A progeroid syndrome that is characterized by premature aging, multiple pigmented nevi, lack of facial subcutaneous fat, microcephaly, short stature, sensorineural hearing loss, and impaired intellectual development.
http://purl.obolibrary.org/obo/SYMP_0000005	ataxia	http://purl.obolibrary.org/obo/SYMP_0000410	neurological and physiological symptom		A neurological and physiological symptom that is characterized by an inability to coordinate voluntary muscular movements that is symptomatic of some nervous disorders.
http://purl.obolibrary.org/obo/TRANS_0000009	airborne transmission	http://purl.obolibrary.org/obo/TRANS_0000002	indirect transmission		Airborne transmission is an indirect transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host while suspended in the air as dust.
http://purl.obolibrary.org/obo/ExO_0000013	acid rain	http://purl.obolibrary.org/obo/ExO_0000007	ecological perturbation		An ecological perturbation that is acidic water, usually pH 2.5 to 4.5, which poisons the ecosystem and adversely affects plants, fishes, and mammals. It is caused by industrial pollutants, mainly sulfur oxides and nitrogen oxides, emitted into the atmosphere and returning to earth in the form of acidic rain water.
http://purl.obolibrary.org/obo/SYMP_0000534	spontaneous ecchymoses	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by the spontaneous escape of blood into the tissues from ruptured blood vessels marked by a livid black-and-blue or purple spot or area.
http://purl.obolibrary.org/obo/SYMP_0000164	incoordination	http://purl.obolibrary.org/obo/SYMP_0000079	coordination symptom		A coordination symptom that is characterized by a loss of complicated body movements, which may be caused by disease, injury, or toxins.
http://purl.obolibrary.org/obo/DOID_2442	paranasal sinus squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		A paranasal sinus cancer that derives_from squamous epithelial cells.
http://purl.obolibrary.org/obo/DOID_0060903	thrombosis	http://purl.obolibrary.org/obo/DOID_178	vascular disease		A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system.
http://purl.obolibrary.org/obo/DOID_0110926	congenital myopathy 4B	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy that is characterized by the onset of muscle weakness in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-tropomyosin-3 gene (TPM3) on chromosome 1q21.
http://purl.obolibrary.org/obo/DOID_0110927	nemaline myopathy 3	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42.
http://purl.obolibrary.org/obo/DOID_0110928	nemaline myopathy 2	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23.
http://purl.obolibrary.org/obo/DOID_0110929	nemaline myopathy 9	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31.
http://purl.obolibrary.org/obo/DOID_0110930	nemaline myopathy 8	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22.
http://purl.obolibrary.org/obo/DOID_0110931	nemaline myopathy 10	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14.
http://purl.obolibrary.org/obo/DOID_0110932	congenital myopathy 23	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.
http://purl.obolibrary.org/obo/DOID_0110933	nemaline myopathy 11	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21.
http://purl.obolibrary.org/obo/DOID_0110934	nemaline myopathy 7	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13.
http://purl.obolibrary.org/obo/DOID_0110935	nemaline myopathy 6	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22.
http://purl.obolibrary.org/obo/DOID_0110936	nemaline myopathy 5A	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous mutation in the TNNT1 gene on chromosome 19q13, with infantile onset.
http://purl.obolibrary.org/obo/DOID_0110937	autosomal dominant osteopetrosis 1	http://purl.obolibrary.org/obo/DOID_13533	osteopetrosis		An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0110938	autosomal dominant osteopetrosis 2	http://purl.obolibrary.org/obo/DOID_13533	osteopetrosis		An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13.
http://purl.obolibrary.org/obo/DOID_0110939	autosomal recessive osteopetrosis 5	http://purl.obolibrary.org/obo/DOID_13533	osteopetrosis		An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21.
http://purl.obolibrary.org/obo/DOID_0110940	autosomal recessive osteopetrosis 8	http://purl.obolibrary.org/obo/DOID_13533	osteopetrosis		An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15.
http://purl.obolibrary.org/obo/DOID_0110941	autosomal recessive osteopetrosis 3	http://purl.obolibrary.org/obo/DOID_13533	osteopetrosis		An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21.
http://purl.obolibrary.org/obo/DOID_0110942	autosomal recessive osteopetrosis 1	http://purl.obolibrary.org/obo/DOID_13533	osteopetrosis		An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2.
http://purl.obolibrary.org/obo/DOID_0110943	autosomal recessive osteopetrosis 2	http://purl.obolibrary.org/obo/DOID_13533	osteopetrosis		An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14.
http://purl.obolibrary.org/obo/DOID_0110944	autosomal recessive osteopetrosis 4	http://purl.obolibrary.org/obo/DOID_13533	osteopetrosis		An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13.
http://purl.obolibrary.org/obo/DOID_0110945	autosomal recessive osteopetrosis 6	http://purl.obolibrary.org/obo/DOID_13533	osteopetrosis		An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31.
http://purl.obolibrary.org/obo/DOID_0110946	autosomal recessive osteopetrosis 7	http://purl.obolibrary.org/obo/DOID_13533	osteopetrosis		An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.
http://purl.obolibrary.org/obo/DOID_0110947	Waardenburg syndrome type 2B	http://purl.obolibrary.org/obo/DOID_9258	Waardenburg syndrome		A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 1p21-p13.3.
http://purl.obolibrary.org/obo/DOID_0110948	Waardenburg syndrome type 1	http://purl.obolibrary.org/obo/DOID_9258	Waardenburg syndrome		A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.
http://purl.obolibrary.org/obo/DOID_0110949	Waardenburg syndrome type 3	http://purl.obolibrary.org/obo/DOID_9258	Waardenburg syndrome		A Waardenburg syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36.
http://purl.obolibrary.org/obo/DOID_0110950	Waardenburg syndrome type 2A	http://purl.obolibrary.org/obo/DOID_9258	Waardenburg syndrome		A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the MITF gene on chromosome 3p13.
http://purl.obolibrary.org/obo/DOID_0110951	Waardenburg syndrome type 2C	http://purl.obolibrary.org/obo/DOID_9258	Waardenburg syndrome		A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 8p23.
http://purl.obolibrary.org/obo/DOID_0110953	Waardenburg syndrome type 4A	http://purl.obolibrary.org/obo/DOID_9258	Waardenburg syndrome		A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22.
http://purl.obolibrary.org/obo/DOID_0110954	Waardenburg syndrome type 4B	http://purl.obolibrary.org/obo/DOID_9258	Waardenburg syndrome		A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13.
http://purl.obolibrary.org/obo/DOID_0110955	Waardenburg syndrome type 4C	http://purl.obolibrary.org/obo/DOID_9258	Waardenburg syndrome		A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13.
http://purl.obolibrary.org/obo/DOID_0110956	Waardenburg syndrome type 2E	http://purl.obolibrary.org/obo/DOID_9258	Waardenburg syndrome		A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutations in the SOX10 gene on chromosome 22q13.
http://purl.obolibrary.org/obo/DOID_0110957	Gaucher's disease type I	http://purl.obolibrary.org/obo/DOID_1926	Gaucher's disease		A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
http://purl.obolibrary.org/obo/DOID_0110958	Gaucher's disease type II	http://purl.obolibrary.org/obo/DOID_1926	Gaucher's disease		A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
http://purl.obolibrary.org/obo/DOID_0110959	Gaucher's disease type III	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
http://purl.obolibrary.org/obo/DOID_0110960	Gaucher's disease perinatal lethal	http://purl.obolibrary.org/obo/DOID_1926	Gaucher's disease		A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
http://purl.obolibrary.org/obo/DOID_0110961	atypical Gaucher's disease due to saposin c deficiency	http://purl.obolibrary.org/obo/DOID_1926	Gaucher's disease		A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1.
http://purl.obolibrary.org/obo/DOID_0110962	brachydactyly-preaxial hallux varus syndrome	http://purl.obolibrary.org/obo/DOID_0050581	brachydactyly		A brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges.
http://purl.obolibrary.org/obo/DOID_0110963	Ballard syndrome	http://purl.obolibrary.org/obo/DOID_0050581	brachydactyly		A brachydactyly characterized by autosomal dominant inheritance of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals but normal stature.
http://purl.obolibrary.org/obo/DOID_0110964	brachydactyly type A1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes.
http://purl.obolibrary.org/obo/DOID_0110965	brachydactyly type A2	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12.
http://purl.obolibrary.org/obo/DOID_0110966	brachydactyly type A3	http://purl.obolibrary.org/obo/DOID_0050581	brachydactyly		A brachydactyly characterized by shortening of the middle phalanx of the fifth finger resulting in radial curvature of the fifth finger.
http://purl.obolibrary.org/obo/DOID_0110967	brachydactyly type A4	http://purl.obolibrary.org/obo/DOID_0050581	brachydactyly		A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus.
http://purl.obolibrary.org/obo/DOID_0110968	brachydactyly type A6	http://purl.obolibrary.org/obo/DOID_0050581	brachydactyly		A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions.
http://purl.obolibrary.org/obo/DOID_0110969	brachydactyly type B1	http://purl.obolibrary.org/obo/DOID_0050581	brachydactyly		A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22.
http://purl.obolibrary.org/obo/DOID_0110970	brachydactyly type C	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.
http://purl.obolibrary.org/obo/DOID_0110971	brachydactyly type D	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1.
http://purl.obolibrary.org/obo/DOID_0110972	brachydactyly type E1	http://purl.obolibrary.org/obo/DOID_0050581	brachydactyly		A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.
http://purl.obolibrary.org/obo/DOID_0110973	Mononen-Karnes-Senac syndrome	http://purl.obolibrary.org/obo/DOID_0050581	brachydactyly		A brachydactyly characterized by short, abducted thumbs and great toes.
http://purl.obolibrary.org/obo/DOID_0110974	brachydactyly type A1B	http://purl.obolibrary.org/obo/DOID_0110964	brachydactyly type A1		A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2.
http://purl.obolibrary.org/obo/DOID_0110975	brachydactyly type B2	http://purl.obolibrary.org/obo/DOID_0050581	brachydactyly		A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22.
http://purl.obolibrary.org/obo/DOID_0110976	brachydactyly type E2	http://purl.obolibrary.org/obo/DOID_0050581	brachydactyly		A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p.
http://purl.obolibrary.org/obo/DOID_0110977	brachydactyly type A1C	http://purl.obolibrary.org/obo/DOID_0110964	brachydactyly type A1		A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11.
http://purl.obolibrary.org/obo/DOID_0110978	brachydactyly type A1D	http://purl.obolibrary.org/obo/DOID_0110964	brachydactyly type A1		A brachydactyly type A1 that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q22.
http://purl.obolibrary.org/obo/DOID_0110979	Sugarman brachydactyly	http://purl.obolibrary.org/obo/DOID_0050581	brachydactyly		A brachydactyly characterized by a nonarticulating great toe set dorsal and proximal to the typical position.
http://purl.obolibrary.org/obo/DOID_0110980	Joubert syndrome 1	http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome		A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0110981	Joubert syndrome 10	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2.
http://purl.obolibrary.org/obo/DOID_0110982	Joubert syndrome 13	http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome		A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24.
http://purl.obolibrary.org/obo/DOID_0110983	Joubert syndrome 14	http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome		A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33.
http://purl.obolibrary.org/obo/DOID_0110984	Joubert syndrome 15	http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome		A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32.
http://purl.obolibrary.org/obo/DOID_0110985	Joubert syndrome 16	http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome		A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q.
http://purl.obolibrary.org/obo/DOID_0110986	Joubert syndrome 17	http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome		A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13.
http://purl.obolibrary.org/obo/DOID_0110987	Joubert syndrome 18	http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome		A Joubert syndrome that has_material_basis_in homozygous mutation in the TCTN3 gene on chromosome 10q24.
http://purl.obolibrary.org/obo/DOID_0110988	Joubert syndrome 2	http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome		A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2.
http://purl.obolibrary.org/obo/DOID_0110989	Joubert syndrome 20	http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome		A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23.
http://purl.obolibrary.org/obo/DOID_0110990	Joubert syndrome 21	http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome		A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13.
http://purl.obolibrary.org/obo/DOID_0110991	Joubert syndrome 22	http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome		A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37.
http://purl.obolibrary.org/obo/DOID_0110992	Joubert syndrome 23	http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome		A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23.
http://purl.obolibrary.org/obo/DOID_0110993	Joubert syndrome 24	http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome		A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24.
http://purl.obolibrary.org/obo/DOID_0110994	Joubert syndrome 25	http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome		A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0110995	Joubert syndrome 26	http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome		A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12.
http://purl.obolibrary.org/obo/DOID_0110996	Joubert syndrome 27	http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome		A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11.
http://purl.obolibrary.org/obo/DOID_0110997	Joubert syndrome 28	http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome		A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23.
http://purl.obolibrary.org/obo/DOID_0110998	Joubert syndrome 3	http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome		A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3.
http://purl.obolibrary.org/obo/DOID_0110999	Joubert syndrome 4	http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome		A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13.
http://purl.obolibrary.org/obo/DOID_0111000	Joubert syndrome 5	http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome		A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.
http://purl.obolibrary.org/obo/DOID_0111001	Joubert syndrome 6	http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome		A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.
http://purl.obolibrary.org/obo/DOID_0111002	Joubert syndrome 7	http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome		A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2.
http://purl.obolibrary.org/obo/DOID_0111003	Joubert syndrome 8	http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome		A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2.
http://purl.obolibrary.org/obo/DOID_0111004	Joubert syndrome 9	http://purl.obolibrary.org/obo/DOID_0050777	Joubert syndrome		A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15.
http://purl.obolibrary.org/obo/DOID_0111005	cone-rod dystrophy 2	http://purl.obolibrary.org/obo/DOID_0050572	cone-rod dystrophy		A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0111006	X-linked cone-rod dystrophy 2	http://purl.obolibrary.org/obo/DOID_0050572	cone-rod dystrophy		A cone-rod dystrophy that has_material_basis_in variation in the chromosome region Xq27.
http://purl.obolibrary.org/obo/DOID_0111007	X-linked cone-rod dystrophy 3	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.
http://purl.obolibrary.org/obo/DOID_0111008	X-linked cone-rod dystrophy 1	http://purl.obolibrary.org/obo/DOID_0050572	cone-rod dystrophy		A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11.
http://purl.obolibrary.org/obo/DOID_0111009	cone-rod dystrophy 1	http://purl.obolibrary.org/obo/DOID_0050572	cone-rod dystrophy		A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 18q21.1-q21.3.
http://purl.obolibrary.org/obo/DOID_0111010	cone-rod dystrophy 5	http://purl.obolibrary.org/obo/DOID_0050572	cone-rod dystrophy		A cone-rod dystrophy that has_material_basis_in mutation in the PITPNM3 gene in chromosome region 17p13.2-p13.1.
http://purl.obolibrary.org/obo/DOID_0111011	cone-rod dystrophy 6	http://purl.obolibrary.org/obo/DOID_0050572	cone-rod dystrophy		A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1.
http://purl.obolibrary.org/obo/DOID_0111012	cone-rod dystrophy 7	http://purl.obolibrary.org/obo/DOID_0050572	cone-rod dystrophy		A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 6q13.
http://purl.obolibrary.org/obo/DOID_0111013	cone-rod dystrophy 3	http://purl.obolibrary.org/obo/DOID_0050572	cone-rod dystrophy		A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22.
http://purl.obolibrary.org/obo/DOID_0111014	cone-rod dystrophy 8	http://purl.obolibrary.org/obo/DOID_0050572	cone-rod dystrophy		A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 1q12-q24.
http://purl.obolibrary.org/obo/DOID_0111015	Newfoundland cone-rod dystrophy	http://purl.obolibrary.org/obo/DOID_0050572	cone-rod dystrophy		A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26.
http://purl.obolibrary.org/obo/DOID_0111016	cone-rod dystrophy 13	http://purl.obolibrary.org/obo/DOID_0050572	cone-rod dystrophy		A cone-rod dystrophy that has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.2.
http://purl.obolibrary.org/obo/DOID_0111017	cone-rod dystrophy 10	http://purl.obolibrary.org/obo/DOID_0050572	cone-rod dystrophy		A cone-rod dystrophy that has_material_basis_in compound heterozygous mutation in the SEMA4A gene on chromosome 1q22.
http://purl.obolibrary.org/obo/DOID_0111018	cone-rod dystrophy 11	http://purl.obolibrary.org/obo/DOID_0050572	cone-rod dystrophy		A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RAX2 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0111019	cone-rod dystrophy 12	http://purl.obolibrary.org/obo/DOID_0050572	cone-rod dystrophy		A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15.
http://purl.obolibrary.org/obo/DOID_0111020	cone-rod dystrophy 9	http://purl.obolibrary.org/obo/DOID_0050572	cone-rod dystrophy		A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM9 gene on chromosome 8p11.
http://purl.obolibrary.org/obo/DOID_0111021	cone-rod dystrophy 15	http://purl.obolibrary.org/obo/DOID_0050572	cone-rod dystrophy		A cone-rod dystrophy that has_material_basis_in homozygous mutation in the CDHR1 gene on chromosome 10q23.
http://purl.obolibrary.org/obo/DOID_0111022	cone-rod dystrophy 16	http://purl.obolibrary.org/obo/DOID_0050572	cone-rod dystrophy		A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22.
http://purl.obolibrary.org/obo/DOID_0111023	cone-rod dystrophy 17	http://purl.obolibrary.org/obo/DOID_0050572	cone-rod dystrophy		A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 10q26.
http://purl.obolibrary.org/obo/DOID_0111024	cone-rod dystrophy 18	http://purl.obolibrary.org/obo/DOID_0050572	cone-rod dystrophy		A cone-rod dystrophy that has_material_basis_in homozygous mutation in the RAB28 gene on chromosome 4p15.
http://purl.obolibrary.org/obo/DOID_0111025	cone-rod dystrophy 19	http://purl.obolibrary.org/obo/DOID_0050572	cone-rod dystrophy		A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24.
http://purl.obolibrary.org/obo/DOID_0111026	cone-rod dystrophy 20	http://purl.obolibrary.org/obo/DOID_0050572	cone-rod dystrophy		A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21.
http://purl.obolibrary.org/obo/DOID_0111027	hemochromatosis type 2A	http://purl.obolibrary.org/obo/DOID_0111034	hemochromatosis type 2		A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21.
http://purl.obolibrary.org/obo/DOID_0111028	hemochromatosis type 4	http://purl.obolibrary.org/obo/DOID_2352	hemochromatosis		A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32.
http://purl.obolibrary.org/obo/DOID_0111029	hemochromatosis type 1	http://purl.obolibrary.org/obo/DOID_2352	hemochromatosis		A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22.
http://purl.obolibrary.org/obo/DOID_0111030	hemochromatosis type 3	http://purl.obolibrary.org/obo/DOID_2352	hemochromatosis		A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22.
http://purl.obolibrary.org/obo/DOID_0111031	hemochromatosis type 5	http://purl.obolibrary.org/obo/DOID_2352	hemochromatosis		A hemochromatosis that has_material_basis_in heterozygous mutation in the FTH1 gene on chromosome 11q12.
http://purl.obolibrary.org/obo/DOID_0111032	hemochromatosis type 2B	http://purl.obolibrary.org/obo/DOID_0111034	hemochromatosis type 2		A hemochromatosis type 2 that has_material_basis_in homozygous mutation in the HAMP gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0111033	African iron overload	http://purl.obolibrary.org/obo/DOID_2352	hemochromatosis		A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums.
http://purl.obolibrary.org/obo/DOID_0111034	hemochromatosis type 2	http://purl.obolibrary.org/obo/DOID_2352	hemochromatosis		A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis.
http://purl.obolibrary.org/obo/DOID_0111035	autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1	http://purl.obolibrary.org/obo/DOID_13945	CADASIL		A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0111036	autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2	http://purl.obolibrary.org/obo/DOID_13945	CADASIL		A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26.
http://purl.obolibrary.org/obo/DOID_0111037	glycine N-methyltransferase deficiency	http://purl.obolibrary.org/obo/DOID_0050544	hypermethioninemia		A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has_material_basis_in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0111038	hypermethioninemia due to adenosine kinase deficiency	http://purl.obolibrary.org/obo/DOID_0050544	hypermethioninemia		A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has_material_basis_in homozygous mutation in the ADK gene on chromosome 10q22.
http://purl.obolibrary.org/obo/DOID_0111039	hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	http://purl.obolibrary.org/obo/DOID_0050544	hypermethioninemia		A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11.
http://purl.obolibrary.org/obo/DOID_0111040	glycogen storage disease IXd	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13.
http://purl.obolibrary.org/obo/DOID_0111041	glycogen storage disease IXb	http://purl.obolibrary.org/obo/DOID_0050594	glycogen storage disease IX		A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12.
http://purl.obolibrary.org/obo/DOID_0111042	glycogen storage disease IXa1	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22.
http://purl.obolibrary.org/obo/DOID_0111043	glycogen storage disease IXc	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11.
http://purl.obolibrary.org/obo/DOID_0111044	gray platelet syndrome	http://purl.obolibrary.org/obo/DOID_2218	blood platelet disease		A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21.
http://purl.obolibrary.org/obo/DOID_0111045	platelet-type bleeding disorder 9	http://purl.obolibrary.org/obo/DOID_2218	blood platelet disease		A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2.
http://purl.obolibrary.org/obo/DOID_0111046	platelet-type bleeding disorder 10	http://purl.obolibrary.org/obo/DOID_2218	blood platelet disease		A blood platelet disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has_material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21.
http://purl.obolibrary.org/obo/DOID_0111047	platelet-type bleeding disorder 14	http://purl.obolibrary.org/obo/DOID_2218	blood platelet disease		A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggregation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34.
http://purl.obolibrary.org/obo/DOID_0111048	platelet-type bleeding disorder 19	http://purl.obolibrary.org/obo/DOID_2218	blood platelet disease		A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21.
http://purl.obolibrary.org/obo/DOID_0111049	platelet-type bleeding disorder 17	http://purl.obolibrary.org/obo/DOID_2218	blood platelet disease		A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0111050	Quebec platelet disorder	http://purl.obolibrary.org/obo/DOID_2218	blood platelet disease		A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degradation that has_material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22.
http://purl.obolibrary.org/obo/DOID_0111051	platelet-type bleeding disorder 18	http://purl.obolibrary.org/obo/DOID_2218	blood platelet disease		A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0111052	Scott syndrome	http://purl.obolibrary.org/obo/DOID_1247	blood coagulation disease		A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has_material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12.
http://purl.obolibrary.org/obo/DOID_0111053	platelet-type bleeding disorder 15	http://purl.obolibrary.org/obo/DOID_2218	blood platelet disease		A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q.
http://purl.obolibrary.org/obo/DOID_0111054	von Willebrand's disease 3	http://purl.obolibrary.org/obo/DOID_12531	von Willebrand's disease		A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has_material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13.
http://purl.obolibrary.org/obo/DOID_0111055	platelet-type bleeding disorder 20	http://purl.obolibrary.org/obo/DOID_2218	blood platelet disease		A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12.
http://purl.obolibrary.org/obo/DOID_0111056	platelet-type bleeding disorder 3	http://purl.obolibrary.org/obo/DOID_2218	blood platelet disease		A blood platelet disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has_material_basis_in mutation in the GP1BA gene on chromosome 17p13.2.
http://purl.obolibrary.org/obo/DOID_0111057	platelet-type bleeding disorder 11	http://purl.obolibrary.org/obo/DOID_2218	blood platelet disease		A blood platelet disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has_material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0111058	platelet-type bleeding disorder 12	http://purl.obolibrary.org/obo/DOID_2218	blood platelet disease		A blood platelet disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.
http://purl.obolibrary.org/obo/DOID_0111059	Bernard-Soulier syndrome type A2	http://purl.obolibrary.org/obo/DOID_2217	Bernard-Soulier syndrome		A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has_material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p.
http://purl.obolibrary.org/obo/DOID_0111060	Ambras type hypertrichosis universalis congenita	http://purl.obolibrary.org/obo/DOID_420	hypertrichosis		A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has_material_basis_in chromosomal abnormalities in the region 8q22.
http://purl.obolibrary.org/obo/DOID_0111061	familial hypobetalipoproteinemia 2	http://purl.obolibrary.org/obo/DOID_1390	hypobetalipoproteinemia		A hypobetalipoproteinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31.
http://purl.obolibrary.org/obo/DOID_0111062	familial hypobetalipoproteinemia 1	http://purl.obolibrary.org/obo/DOID_1390	hypobetalipoproteinemia		A hypobetalipoproteinemia that has_material_basis_in mutation in the APOB gene on chromosome 2p24.
http://purl.obolibrary.org/obo/DOID_0111063	hyperphosphatemic familial tumoral calcinosis	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene.
http://purl.obolibrary.org/obo/DOID_0111064	autosomal recessive distal hereditary motor neuronopathy 1	http://purl.obolibrary.org/obo/DOID_0111197	autosomal recessive distal hereditary motor neuronopathy		A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0111065	autosomal recessive distal hereditary motor neuronopathy 2	http://purl.obolibrary.org/obo/DOID_0111197	autosomal recessive distal hereditary motor neuronopathy		A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13.
http://purl.obolibrary.org/obo/DOID_0111066	congenital bile acid synthesis defect 5	http://purl.obolibrary.org/obo/DOID_0050674	congenital bile acid synthesis defect		A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21.
http://purl.obolibrary.org/obo/DOID_0111067	congenital bile acid synthesis defect 6	http://purl.obolibrary.org/obo/DOID_0050674	congenital bile acid synthesis defect		A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14.
http://purl.obolibrary.org/obo/DOID_0111068	congenital bile acid synthesis defect 4	http://purl.obolibrary.org/obo/DOID_0050674	congenital bile acid synthesis defect		A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.
http://purl.obolibrary.org/obo/DOID_0111069	congenital bile acid synthesis defect 2	http://purl.obolibrary.org/obo/DOID_0050674	congenital bile acid synthesis defect		A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33.
http://purl.obolibrary.org/obo/DOID_0111070	congenital bile acid synthesis defect 3	http://purl.obolibrary.org/obo/DOID_0050674	congenital bile acid synthesis defect		A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12.
http://purl.obolibrary.org/obo/DOID_0111071	congenital bile acid synthesis defect 1	http://purl.obolibrary.org/obo/DOID_0050674	congenital bile acid synthesis defect		A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p.
http://purl.obolibrary.org/obo/DOID_0111072	myostatin-related muscle hypertrophy	http://purl.obolibrary.org/obo/DOID_66	muscle tissue disease		A muscle tissue disease characterized by increased muscle bulk and strength that has_material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2.
http://purl.obolibrary.org/obo/DOID_0111073	progressive familial heart block	http://purl.obolibrary.org/obo/DOID_10273	heart conduction disease		A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as shortness of breath, dizziness, syncope, abdominal pain, heart failure or sudden death.
http://purl.obolibrary.org/obo/DOID_0111074	progressive familial heart block type IA	http://purl.obolibrary.org/obo/DOID_0111073	progressive familial heart block		A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21.
http://purl.obolibrary.org/obo/DOID_0111075	progressive familial heart block type II	http://purl.obolibrary.org/obo/DOID_0111073	progressive familial heart block		A progressive familial heart block characterized by autosomal dominant inheritance of heart block that tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes that has_material_basis_in variation in the chromosome region 1q32.
http://purl.obolibrary.org/obo/DOID_0111076	progressive familial heart block type IB	http://purl.obolibrary.org/obo/DOID_0111073	progressive familial heart block		A progressive familial heart block characterized by that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0111077	congenital nonspherocytic hemolytic anemia 2	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22.
http://purl.obolibrary.org/obo/DOID_0111078	tibial muscular dystrophy	http://purl.obolibrary.org/obo/DOID_11720	distal myopathy		A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior compartment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31.
http://purl.obolibrary.org/obo/DOID_0111079	birdshot chorioretinopathy	http://purl.obolibrary.org/obo/DOID_12574	posterior uveitis		A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia.
http://purl.obolibrary.org/obo/DOID_0111080	Fanconi anemia complementation group V	http://purl.obolibrary.org/obo/DOID_13636	Fanconi anemia		A Fanconi anemia that has_material_basis_in homozygous mutation in the MAD2L2 gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0111081	Fanconi anemia complementation group T	http://purl.obolibrary.org/obo/DOID_13636	Fanconi anemia		A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the UBE2T gene on chromosome 1q32.
http://purl.obolibrary.org/obo/DOID_0111082	Fanconi anemia complementation group L	http://purl.obolibrary.org/obo/DOID_13636	Fanconi anemia		A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16.
http://purl.obolibrary.org/obo/DOID_0111083	Fanconi anemia complementation group D2	http://purl.obolibrary.org/obo/DOID_13636	Fanconi anemia		A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25.
http://purl.obolibrary.org/obo/DOID_0111084	Fanconi anemia complementation group E	http://purl.obolibrary.org/obo/DOID_13636	Fanconi anemia		A Fanconi anemia that has_material_basis_in homozygous mutation in the FANCE gene on chromosome 6p22-p21.
http://purl.obolibrary.org/obo/DOID_0111085	Fanconi anemia complementation group U	http://purl.obolibrary.org/obo/DOID_13636	Fanconi anemia		A Fanconi anemia that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36.
http://purl.obolibrary.org/obo/DOID_0111086	Fanconi anemia complementation group G	http://purl.obolibrary.org/obo/DOID_13636	Fanconi anemia		A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC9 gene on chromosome 9p13.
http://purl.obolibrary.org/obo/DOID_0111087	Fanconi anemia complementation group C	http://purl.obolibrary.org/obo/DOID_13636	Fanconi anemia		A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22.
http://purl.obolibrary.org/obo/DOID_0111088	Fanconi anemia complementation group F	http://purl.obolibrary.org/obo/DOID_13636	Fanconi anemia		A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCF gene on chromosome 11p15.
http://purl.obolibrary.org/obo/DOID_0111089	Fanconi anemia complementation group D1	http://purl.obolibrary.org/obo/DOID_13636	Fanconi anemia		A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13.
http://purl.obolibrary.org/obo/DOID_0111090	Fanconi anemia complementation group R	http://purl.obolibrary.org/obo/DOID_13636	Fanconi anemia		A Fanconi anemia that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15.
http://purl.obolibrary.org/obo/DOID_0111091	Fanconi anemia complementation group I	http://purl.obolibrary.org/obo/DOID_13636	Fanconi anemia		A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26.
http://purl.obolibrary.org/obo/DOID_0111092	Fanconi anemia complementation group P	http://purl.obolibrary.org/obo/DOID_13636	Fanconi anemia		A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3.
http://purl.obolibrary.org/obo/DOID_0111093	Fanconi anemia complementation group Q	http://purl.obolibrary.org/obo/DOID_13636	Fanconi anemia		A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the ERCC4 gene on chromosome 16p13.
http://purl.obolibrary.org/obo/DOID_0111094	Fanconi anemia complementation group N	http://purl.obolibrary.org/obo/DOID_13636	Fanconi anemia		A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the PALB2 gene on chromosome 16p12.
http://purl.obolibrary.org/obo/DOID_0111095	Fanconi anemia complementation group A	http://purl.obolibrary.org/obo/DOID_13636	Fanconi anemia		A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24.
http://purl.obolibrary.org/obo/DOID_0111096	Fanconi anemia complementation group O	http://purl.obolibrary.org/obo/DOID_13636	Fanconi anemia		A Fanconi anemia that has_material_basis_in homozygous mutation in the RAD51C gene on chromosome 17q21-q24.
http://purl.obolibrary.org/obo/DOID_0111097	Fanconi anemia complementation group J	http://purl.obolibrary.org/obo/DOID_13636	Fanconi anemia		A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22.
http://purl.obolibrary.org/obo/DOID_0111098	Fanconi anemia complementation group B	http://purl.obolibrary.org/obo/DOID_13636	Fanconi anemia		A Fanconi anemia that has_material_basis_in mutation in the FANCB gene on chromosome Xp22.
http://purl.obolibrary.org/obo/DOID_0111099	maturity-onset diabetes of the young type 1	http://purl.obolibrary.org/obo/DOID_0050524	maturity-onset diabetes of the young		A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF4A gene on chromosome 20.
http://purl.obolibrary.org/obo/DOID_0111100	maturity-onset diabetes of the young type 2	http://purl.obolibrary.org/obo/DOID_0050524	maturity-onset diabetes of the young		A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13.
http://purl.obolibrary.org/obo/DOID_0111101	renal cysts and diabetes syndrome	http://purl.obolibrary.org/obo/DOID_0060062	autosomal dominant tubulointerstitial kidney disease		A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12.
http://purl.obolibrary.org/obo/DOID_0111102	maturity-onset diabetes of the young type 3	http://purl.obolibrary.org/obo/DOID_0050524	maturity-onset diabetes of the young		A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF1A gene on chromosome 12q24.31.
http://purl.obolibrary.org/obo/DOID_0111103	maturity-onset diabetes of the young type 4	http://purl.obolibrary.org/obo/DOID_0050524	maturity-onset diabetes of the young		A maturity-onset diabetes of the young that has_material_basis_in mutation in the PDX1 gene on chromosome 13q12.2.
http://purl.obolibrary.org/obo/DOID_0111104	maturity-onset diabetes of the young type 6	http://purl.obolibrary.org/obo/DOID_0050524	maturity-onset diabetes of the young		A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the NEUROD1 gene on chromosome 2q31.
http://purl.obolibrary.org/obo/DOID_0111105	maturity-onset diabetes of the young type 8	http://purl.obolibrary.org/obo/DOID_0050524	maturity-onset diabetes of the young		A maturity-onset diabetes of the young that has_material_basis_in frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13.
http://purl.obolibrary.org/obo/DOID_0111106	maturity-onset diabetes of the young type 7	http://purl.obolibrary.org/obo/DOID_0050524	maturity-onset diabetes of the young		A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KLF11 gene on chromosome 2p25.
http://purl.obolibrary.org/obo/DOID_0111107	maturity-onset diabetes of the young type 9	http://purl.obolibrary.org/obo/DOID_0050524	maturity-onset diabetes of the young		A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the PAX4 gene on chromosome 7q32.1.
http://purl.obolibrary.org/obo/DOID_0111108	maturity-onset diabetes of the young type 10	http://purl.obolibrary.org/obo/DOID_0050524	maturity-onset diabetes of the young		A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the INS gene on chromosome 11p15.5.
http://purl.obolibrary.org/obo/DOID_0111109	maturity-onset diabetes of the young type 11	http://purl.obolibrary.org/obo/DOID_0050524	maturity-onset diabetes of the young		A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the BLK gene on chromosome 8p23-p22.
http://purl.obolibrary.org/obo/DOID_0111110	maturity-onset diabetes of the young type 13	http://purl.obolibrary.org/obo/DOID_0050524	maturity-onset diabetes of the young		A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15.
http://purl.obolibrary.org/obo/DOID_0111111	maturity-onset diabetes of the young type 14	http://purl.obolibrary.org/obo/DOID_0050524	maturity-onset diabetes of the young		A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the APPL1 gene on chromosome 3p14.
http://purl.obolibrary.org/obo/DOID_0111112	nephronophthisis 1	http://purl.obolibrary.org/obo/DOID_12712	nephronophthisis		A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13.
http://purl.obolibrary.org/obo/DOID_0111113	nephronophthisis 2	http://purl.obolibrary.org/obo/DOID_12712	nephronophthisis		A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31.
http://purl.obolibrary.org/obo/DOID_0111114	nephronophthisis 3	http://purl.obolibrary.org/obo/DOID_12712	nephronophthisis		A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22.
http://purl.obolibrary.org/obo/DOID_0111115	nephronophthisis 4	http://purl.obolibrary.org/obo/DOID_12712	nephronophthisis		A nephronophthisis that has_material_basis_in mutation in the NPHP4 gene on chromosome 1p36.31.
http://purl.obolibrary.org/obo/DOID_0111116	nephronophthisis 7	http://purl.obolibrary.org/obo/DOID_12712	nephronophthisis		A nephronophthisis that has_material_basis_in homozygous mutation in the GLIS2 gene on chromosome 16p13.
http://purl.obolibrary.org/obo/DOID_0111117	nephronophthisis-like nephropathy 1	http://purl.obolibrary.org/obo/DOID_12712	nephronophthisis		A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2.
http://purl.obolibrary.org/obo/DOID_0111118	nephronophthisis 11	http://purl.obolibrary.org/obo/DOID_12712	nephronophthisis		A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1.
http://purl.obolibrary.org/obo/DOID_0111119	nephronophthisis 12	http://purl.obolibrary.org/obo/DOID_12712	nephronophthisis		A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24.
http://purl.obolibrary.org/obo/DOID_0111120	nephronophthisis 9	http://purl.obolibrary.org/obo/DOID_12712	nephronophthisis		A nephronophthisis that has_material_basis_in homozygous mutation in the NEK8 gene on chromosome 17q11.
http://purl.obolibrary.org/obo/DOID_0111121	nephronophthisis 13	http://purl.obolibrary.org/obo/DOID_12712	nephronophthisis		A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14.
http://purl.obolibrary.org/obo/DOID_0111122	nephronophthisis 14	http://purl.obolibrary.org/obo/DOID_12712	nephronophthisis		A nephronophthisis that has_material_basis_in homozygous mutation in the ZNF423 gene on chromosome 16q12.1.
http://purl.obolibrary.org/obo/DOID_0111123	nephronophthisis 15	http://purl.obolibrary.org/obo/DOID_12712	nephronophthisis		A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q.
http://purl.obolibrary.org/obo/DOID_0111124	nephronophthisis 16	http://purl.obolibrary.org/obo/DOID_12712	nephronophthisis		A nephronophthisis that has_material_basis_in homozygous mutation in the ANKS6 gene on chromosome 9q22.
http://purl.obolibrary.org/obo/DOID_0111125	nephronophthisis 18	http://purl.obolibrary.org/obo/DOID_12712	nephronophthisis		A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22.
http://purl.obolibrary.org/obo/DOID_0111126	nephronophthisis 19	http://purl.obolibrary.org/obo/DOID_12712	nephronophthisis		A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22.
http://purl.obolibrary.org/obo/DOID_0111127	nephronophthisis 20	http://purl.obolibrary.org/obo/DOID_12712	nephronophthisis		A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15.
http://purl.obolibrary.org/obo/DOID_0111128	focal segmental glomerulosclerosis 1	http://purl.obolibrary.org/obo/DOID_1312	focal segmental glomerulosclerosis		A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ACTN4 gene on chromosome 19q13.2.
http://purl.obolibrary.org/obo/DOID_0111129	focal segmental glomerulosclerosis 2	http://purl.obolibrary.org/obo/DOID_1312	focal segmental glomerulosclerosis		A focal segmental glomerulosclerosis that has_material_basis_in a mutation of the TRPC6 gene on chromosome 11q22.1.
http://purl.obolibrary.org/obo/DOID_0111130	focal segmental glomerulosclerosis 5	http://purl.obolibrary.org/obo/DOID_1312	focal segmental glomerulosclerosis		A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the INF2 gene on chromosome 14q32.33.
http://purl.obolibrary.org/obo/DOID_0111131	focal segmental glomerulosclerosis 6	http://purl.obolibrary.org/obo/DOID_1312	focal segmental glomerulosclerosis		A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the MYO1E gene on chromosome 15q22.2.
http://purl.obolibrary.org/obo/DOID_0111132	focal segmental glomerulosclerosis 7	http://purl.obolibrary.org/obo/DOID_1312	focal segmental glomerulosclerosis		A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the PAX2 gene on chromosome 10q24.31.
http://purl.obolibrary.org/obo/DOID_0111133	focal segmental glomerulosclerosis 8	http://purl.obolibrary.org/obo/DOID_1312	focal segmental glomerulosclerosis		A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ANLN gene on chromosome 7p14.2.
http://purl.obolibrary.org/obo/DOID_0111134	focal segmental glomerulosclerosis 9	http://purl.obolibrary.org/obo/DOID_1312	focal segmental glomerulosclerosis		A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the CRB2 gene on chromosome 9q33.3.
http://purl.obolibrary.org/obo/DOID_0111135	congenital generalized lipodystrophy type 1	http://purl.obolibrary.org/obo/DOID_0050585	congenital generalized lipodystrophy		A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3.
http://purl.obolibrary.org/obo/DOID_0111136	congenital generalized lipodystrophy type 2	http://purl.obolibrary.org/obo/DOID_0050585	congenital generalized lipodystrophy		A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3.
http://purl.obolibrary.org/obo/DOID_0111137	congenital generalized lipodystrophy type 3	http://purl.obolibrary.org/obo/DOID_0050585	congenital generalized lipodystrophy		A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2.
http://purl.obolibrary.org/obo/DOID_0111138	congenital generalized lipodystrophy type 4	http://purl.obolibrary.org/obo/DOID_0050585	congenital generalized lipodystrophy		A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2.
http://purl.obolibrary.org/obo/DOID_0080193	superior semicircular canal dehiscence	http://purl.obolibrary.org/obo/DOID_2952	inner ear disease		An inner ear disease characterized by dehiscence in the bone overlying the superior semicircular canal experience with symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus.
http://purl.obolibrary.org/obo/DOID_0080194	Carey-Fineman-Ziter syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive.
http://purl.obolibrary.org/obo/DOID_0080195	Marinesco-Sjogren syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development.
http://purl.obolibrary.org/obo/DOID_0080196	mandibulofacial dysostosis, Guion-Almeida type	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia.
http://purl.obolibrary.org/obo/DOID_0080197	congenital muscular dystrophy with cataracts and intellectual disability	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0080198	infantile histiocytoid cardiomyopathy	http://purl.obolibrary.org/obo/DOID_0060036	intrinsic cardiomyopathy		An intrinsic cardiomyopathy characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium and has_material_basis_in a mutation in the gene encoding mitochondrial cytochrome b.
http://purl.obolibrary.org/obo/DOID_0060904	legume allergy	http://purl.obolibrary.org/obo/DOID_0060503	fruit allergy		A fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product.
http://purl.obolibrary.org/obo/DOID_0080661	nonsyndromic aplasia cutis congenita	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease characterized by localized areas of missing skin that resemble ulcers or oopen wounds in new borns and that has_material_basis_in heterozygous mutation in the BMS1 gene on chromosome 10q11.
http://purl.obolibrary.org/obo/DOID_0080662	atrial standstill 1	http://purl.obolibrary.org/obo/DOID_10273	heart conduction disease		A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and that has_material_basis_in coinheritance of a variant in the SCN5A gene in combination with a rare connexin-40 genotype.
http://purl.obolibrary.org/obo/DOID_0080663	atrial standstill 2	http://purl.obolibrary.org/obo/DOID_10273	heart conduction disease		A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and has_material_basis_in homozygous mutation in the NPPA gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0080664	diaphyseal medullary stenosis with malignant fibrous histiocytoma	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21.
http://purl.obolibrary.org/obo/DOID_0080665	warfarin resistance	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		An inherited metabolic disorder that is characterized by a high tolerance for the drug warfarin.
http://purl.obolibrary.org/obo/DOID_0080666	warfarin sensitivity	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		An inherited metabolic disorder that is characterized by a low tolerance for the drug warfarin.
http://purl.obolibrary.org/obo/DOID_0111790	congenital nystagmus 1	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene (FERM domain-containing-7) on chromosome Xq26.
http://purl.obolibrary.org/obo/DOID_0111791	congenital nystagmus 7	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 1q31.3-q32.1.
http://purl.obolibrary.org/obo/DOID_0111792	congenital nystagmus 2	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 6p12.
http://purl.obolibrary.org/obo/DOID_0111793	congenital nystagmus 3	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 7p11.2.
http://purl.obolibrary.org/obo/DOID_0111795	congenital nystagmus 6	http://purl.obolibrary.org/obo/DOID_9649	congenital nystagmus		A congenital nystagmus that has_material_basis_in hemizygous of homoxygous mutation in the GPR143 gene on chromosome Xp22.2.
http://purl.obolibrary.org/obo/DOID_0111796	congenital nystagmus 5	http://purl.obolibrary.org/obo/DOID_0080009	X-linked dominant disease		A congenital nystagmus that has_material_basis_in hemizygous or heterozygous mutation in a region of chromosome Xp11.4.
http://purl.obolibrary.org/obo/DOID_0111797	autosomal recessive congenital nystagmus	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital nystagmus characterized by autosomal recessive inheritance.
http://purl.obolibrary.org/obo/DOID_0111798	X-linked nephrolithiasis type I	http://purl.obolibrary.org/obo/DOID_447	renal tubular transport disease		A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.23.
http://purl.obolibrary.org/obo/DOID_0111799	syndromic microphthalmia 1	http://purl.obolibrary.org/obo/DOID_0080636	syndromic microphthalmia		A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in the NAA10 gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0111800	syndromic microphthalmia 12	http://purl.obolibrary.org/obo/DOID_0080636	syndromic microphthalmia		A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in the RARB gene on chromosome 3p24.2.
http://purl.obolibrary.org/obo/DOID_0111801	syndromic microphthalmia 3	http://purl.obolibrary.org/obo/DOID_0080636	syndromic microphthalmia		A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that has_material_basis_in heterozygous mutation in the SOX2 gene on chromosome 3q26.33.
http://purl.obolibrary.org/obo/DOID_0111802	syndromic microphthalmia 14	http://purl.obolibrary.org/obo/DOID_0080636	syndromic microphthalmia		A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in the MAB21L2 gene on chromosome 4q31.3.
http://purl.obolibrary.org/obo/DOID_0111803	syndromic microphthalmia 8	http://purl.obolibrary.org/obo/DOID_0080636	syndromic microphthalmia		A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21.
http://purl.obolibrary.org/obo/DOID_0111804	syndromic microphthalmia 11	http://purl.obolibrary.org/obo/DOID_0080636	syndromic microphthalmia		A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in VAX1 on chromosome 10q25.3.
http://purl.obolibrary.org/obo/DOID_0111805	syndromic microphthalmia 6	http://purl.obolibrary.org/obo/DOID_0080636	syndromic microphthalmia		A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.2.
http://purl.obolibrary.org/obo/DOID_0111806	syndromic microphthalmia 5	http://purl.obolibrary.org/obo/DOID_0080636	syndromic microphthalmia		A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q22.3.
http://purl.obolibrary.org/obo/DOID_0111807	syndromic microphthalmia 9	http://purl.obolibrary.org/obo/DOID_0080636	syndromic microphthalmia		A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.1.
http://purl.obolibrary.org/obo/DOID_0111808	linear skin defects with multiple congenital anomalies 1	http://purl.obolibrary.org/obo/DOID_0111875	MLS syndrome		A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has_material_basis_in heterozygous or hemizygous mutation in the HCCS gene on chromosome Xp22.2.
http://purl.obolibrary.org/obo/DOID_0111809	syndromic microphthalmia 2	http://purl.obolibrary.org/obo/DOID_0080636	syndromic microphthalmia		A syndromic microphthalmia characterized by ocular defects including microphthalmia, microcornea, and congentital cataract; facial dysmorphism including septate nasal cartilage with high nasal bridge; congenital heart defects, most commonly a septal defect; and dental anomalies, most commonly persistent primary teeth and radiculomegaly that has_material_basis_in mutation in the BCL6 corepressor gene on chromosome Xp11.
http://purl.obolibrary.org/obo/DOID_0111811	syndromic microphthalmia 13	http://purl.obolibrary.org/obo/DOID_0080636	syndromic microphthalmia		A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in the HMGB3 gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0111812	syndromic microphthalmia 10	http://purl.obolibrary.org/obo/DOID_0080636	syndromic microphthalmia		A syndromic microphthalmia characterized by congenital microphthalmia and blindness, microcephaly, progressive spasticity, seizures, progressive atrophy of the brain and profound intellectual disability.
http://purl.obolibrary.org/obo/DOID_0080669	posterior polymorphous corneal dystrophy 4	http://purl.obolibrary.org/obo/DOID_0060457	posterior polymorphous corneal dystrophy		A posterior polymorphous corneal dystrophy that is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape and that has_material_basis_in heterozygous mutation in the GRHL2 gene on chromosome 8q22.
http://purl.obolibrary.org/obo/DOID_0080670	Meesmann corneal dystrophy 1	http://purl.obolibrary.org/obo/DOID_0060451	Meesmann corneal dystrophy		A Messmann corneal dystrophy that is characterized by the presence of multitudinous microcysts within the anterior epithelium and that has_material_basis_in heterozygous mutation in the KRT12 gene on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0080671	Meesmann corneal dystrophy 2	http://purl.obolibrary.org/obo/DOID_0060451	Meesmann corneal dystrophy		A Messmann corneal dystrophy that is characterized by fragility of the anterior corneal epithelium and the presence of intraepithelial microcysts and that has_material_basis_in heterozygous mutation in the KRT3 gene on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0080672	fibrochondrogenesis 1	http://purl.obolibrary.org/obo/DOID_0060465	fibrochondrogenesis		A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21.
http://purl.obolibrary.org/obo/DOID_0080673	fibrochondrogenesis 2	http://purl.obolibrary.org/obo/DOID_0060465	fibrochondrogenesis		A fibrochondrogenesis that has_material_basis_in homozygous or heterozygous mutation in the COL11A2 gene on chromosome 6p21.3.
http://purl.obolibrary.org/obo/DOID_0080674	luminal breast carcinoma B	http://purl.obolibrary.org/obo/DOID_3459	breast carcinoma		A breast carcinoma that is characterized by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1.
http://purl.obolibrary.org/obo/DOID_0080675	Stickler syndrome 2	http://purl.obolibrary.org/obo/DOID_0080046	Stickler syndrome		A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21.
http://purl.obolibrary.org/obo/DOID_0080676	Stickler syndrome 1	http://purl.obolibrary.org/obo/DOID_0080046	Stickler syndrome		A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0080677	otospondylomegaepiphyseal dysplasia, autosomal dominant	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene.
http://purl.obolibrary.org/obo/DOID_0080678	mucolipidosis III gamma	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTG gene, which encodes the gamma subunit of N-acetylglucosamine-1-phosphotransferase, on chromosome 16p13.
http://purl.obolibrary.org/obo/DOID_0080679	neuronal intestinal dysplasia type A	http://purl.obolibrary.org/obo/DOID_0080072	intestinal pseudo-obstruction		An intestinal pseudo-obstruction that is characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine.
http://purl.obolibrary.org/obo/DOID_0080680	neuronal intestinal dysplasia type B	http://purl.obolibrary.org/obo/DOID_0080072	intestinal pseudo-obstruction		An intestinal pseudo-obstruction that is affects the parasympathetic submucous plexus.
http://purl.obolibrary.org/obo/DOID_0080681	X-linked chronic idiopathic intestinal pseudo-obstruction	http://purl.obolibrary.org/obo/DOID_0080072	intestinal pseudo-obstruction		An intestinal pseudo-obstruction that has_material_basis_in mutations in the FLNA gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0080682	autosomal dominant familial visceral neuropathy	http://purl.obolibrary.org/obo/DOID_0080072	intestinal pseudo-obstruction		An intestinal pseudo-obstruction that is inherited as an autosomal dominant trait.
http://purl.obolibrary.org/obo/DOID_0080683	nonsyndromic congenital nail disorder	http://purl.obolibrary.org/obo/DOID_4123	nail disease		A nail disease that is characterized by underdevelopment of nails.
http://purl.obolibrary.org/obo/DOID_0080684	diffuse midline glioma, H3 K27M-mutant	http://purl.obolibrary.org/obo/DOID_0080879	histone mutated tumor		A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system.
http://purl.obolibrary.org/obo/DOID_0080685	aortic dissection	http://purl.obolibrary.org/obo/DOID_520	aortic disease		An aortic disease that is characterized by tearing of the intimal layer of the aorta resulting in separation of the layers of the aortic wall.
http://purl.obolibrary.org/obo/DOID_0080686	tubular aggregate myopathy 2	http://purl.obolibrary.org/obo/DOID_423	myopathy		A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the ORAI1 gene on chromosome 12q24.
http://purl.obolibrary.org/obo/DOID_0080687	reducing body myopathy 1B	http://purl.obolibrary.org/obo/DOID_423	myopathy		A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with late childhood or adult onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26.
http://purl.obolibrary.org/obo/DOID_0080688	mosaic variegated aneuploidy syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by cell mosaicism where at least one-quarter of cells have an abnormal number of chromosomes.
http://purl.obolibrary.org/obo/DOID_0080689	mosaic variegated aneuploidy syndrome 3	http://purl.obolibrary.org/obo/DOID_0080688	mosaic variegated aneuploidy syndrome		A mosaic variegated aneuploidy syndrome that has_material_basis_in homozygous mutation in the TRIP13 gene on chromosome 5p15 that results in no detectable TRIP13 protein.
http://purl.obolibrary.org/obo/DOID_0080691	Noonan syndrome-like disorder with loose anagen hair	http://purl.obolibrary.org/obo/DOID_0080690	RASopathy		A RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay.
http://purl.obolibrary.org/obo/DOID_0080692	Noonan syndrome-like disorder with loose anagen hair 1	http://purl.obolibrary.org/obo/DOID_0080691	Noonan syndrome-like disorder with loose anagen hair		A Noonan-like syndrome with loose anagen hair that has_material_basis_in heterozygous mutation in the SHOC2 gene on chromosome 10q25.
http://purl.obolibrary.org/obo/DOID_0080693	Noonan syndrome-like disorder with loose anagen hair 2	http://purl.obolibrary.org/obo/DOID_0080691	Noonan syndrome-like disorder with loose anagen hair		A Noonan syndrome-like disorder with loose anagen hair that has_material_basis_in heterozygous mutation in the PPP1CB gene on chromosome 2p23.
http://purl.obolibrary.org/obo/DOID_0080694	Galloway-Mowat syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy.
http://purl.obolibrary.org/obo/DOID_0080695	Burn-McKeown syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by bilateral choanal atresia, cranio-facial dysmorphism, hearing loss, heart abnormalities, and short stature.
http://purl.obolibrary.org/obo/DOID_0111859	midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that has_material_basis_in hemizygous mutation in the AMMECR1 gene on chromosome Xq23.
http://purl.obolibrary.org/obo/DOID_0111860	AMME complex	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3.
http://purl.obolibrary.org/obo/DOID_0111861	Meester-Loeys syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by early-onset aortic aneurysm and dissection in hemizygous males and variable presentation from unaffected to fatal aortic dissection in heterozygous females, as well as facial dysmorphism, connective tissue anomalies, and features of Loeys-Dietz syndrome that has_material_basis_in mutation in BGN on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0111862	congenital bilateral absence of vas deferens	http://purl.obolibrary.org/obo/DOID_12336	male infertility		A male infertility that is characterized by bilateral absence of the vas deferens resulting in obstroctive azoospermia and male infertility.
http://purl.obolibrary.org/obo/DOID_0111863	X-linked congenital bilateral absence of vas deferens	http://purl.obolibrary.org/obo/DOID_0111862	congenital bilateral absence of vas deferens		A congenital bilateral absence of vas deferens that has_material_basis_in mutation in the ADGRG2 gene on chromosome Xp22.13.
http://purl.obolibrary.org/obo/DOID_0111864	autosomal recessive congenital bilateral absence of vas deferens	http://purl.obolibrary.org/obo/DOID_0111862	congenital bilateral absence of vas deferens		A congenital bilateral absence of vas deferens that has_material_basis_in homozygous or compound heterozygous mutation in the CFTR gene on chromosome 7q31.2.
http://purl.obolibrary.org/obo/DOID_0111865	MEND syndrome	http://purl.obolibrary.org/obo/DOID_3146	lipid metabolism disorder		A lipid metabolism disorder characterized by a defect in sterol biosynthesis that results in variable features including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities that has_material_basis_in hemizygous mutation in EBP on chromosome Xp11.23.
http://purl.obolibrary.org/obo/DOID_0111867	nonphotosensitive trichothiodystrophy	http://purl.obolibrary.org/obo/DOID_0111866	trichothiodystrophy		A trichothiodystrophy characterized by absence of extreme sensitivity to UV radiation.
http://purl.obolibrary.org/obo/DOID_0111868	nonphotosensitive trichothiodystrophy 5	http://purl.obolibrary.org/obo/DOID_0111867	nonphotosensitive trichothiodystrophy		A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the RNF113A gene on chromosome Xq24.
http://purl.obolibrary.org/obo/DOID_0111869	photosensitive trichothiodystrophy 2	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC3 gene on chromosome 2q14.3.
http://purl.obolibrary.org/obo/DOID_0111870	nonphotosensitive trichothiodystrophy 7	http://purl.obolibrary.org/obo/DOID_0111867	nonphotosensitive trichothiodystrophy		A nonphotosensitive trichothiodystrophy characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis that has_material_basis_in homozygous or compound heterozygous mutation in the TARS1 gene on chromosome 5p13.3.
http://purl.obolibrary.org/obo/DOID_0111871	photosensitive trichothiodystrophy 3	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2H5 gene on chromosome 6q25.3.
http://purl.obolibrary.org/obo/DOID_0111872	nonphotosensitive trichothiodystrophy 6	http://purl.obolibrary.org/obo/DOID_0111867	nonphotosensitive trichothiodystrophy		A nonphotosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2E2 gene on chromosome 8p12.
http://purl.obolibrary.org/obo/DOID_0111873	photosensitive trichothiodystrophy 1	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32.
http://purl.obolibrary.org/obo/DOID_0111874	Sabinas brittle hair syndrome	http://purl.obolibrary.org/obo/DOID_0111867	nonphotosensitive trichothiodystrophy		A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility.
http://purl.obolibrary.org/obo/DOID_0111875	MLS syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by linear skin defects and various other congenital anomalies. The classical diagnosis consisted of unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects but patients with a molecular diagnosis of MLS syndrome may not display eye abnormalities.
http://purl.obolibrary.org/obo/DOID_0111876	linear skin defects with multiple congenital anomalies 3	http://purl.obolibrary.org/obo/DOID_0111875	MLS syndrome		A linear skin defects with multiple congenital anomalies characterized by linear skin defects, cardiomyopathy, and various other congenital anomalies that has_material_basis_in heterozygous mutation in the NDUFB11 gene on chromosome Xp11.3.
http://purl.obolibrary.org/obo/DOID_0111877	linear skin defects with multiple congenital anomalies 2	http://purl.obolibrary.org/obo/DOID_0111875	MLS syndrome		A linear skin defects with multiple congenital anomalies characterized by linear skin defects, microcephaly, facial dysmorphism, and other congenital anomalies that has_material_basis_in heterozygous mutation in the COX7B gene on chromosome Xq21.1.
http://purl.obolibrary.org/obo/DOID_0111878	Diamond-Blackfan anemia 7	http://purl.obolibrary.org/obo/DOID_1339	Diamond-Blackfan anemia		A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL11 gene on chromosome 1p36.11.
http://purl.obolibrary.org/obo/DOID_0111879	Diamond-Blackfan anemia 6	http://purl.obolibrary.org/obo/DOID_1339	Diamond-Blackfan anemia		A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL5 gene on chromosome 1p22.1.
http://purl.obolibrary.org/obo/DOID_0111880	Diamond-Blackfan anemia 17	http://purl.obolibrary.org/obo/DOID_1339	Diamond-Blackfan anemia		A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS27 gene on chromosome 1q21.3.
http://purl.obolibrary.org/obo/DOID_0111881	Diamond-Blackfan anemia 8	http://purl.obolibrary.org/obo/DOID_1339	Diamond-Blackfan anemia		A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS7 gene on chromosome 2p25.3.
http://purl.obolibrary.org/obo/DOID_0111882	Diamond-Blackfan anemia 12	http://purl.obolibrary.org/obo/DOID_1339	Diamond-Blackfan anemia		A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL15 gene on chromosome 3p24.2.
http://purl.obolibrary.org/obo/DOID_0111883	Diamond-Blackfan anemia 5	http://purl.obolibrary.org/obo/DOID_1339	Diamond-Blackfan anemia		A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35A gene on chromosome 3q29.
http://purl.obolibrary.org/obo/DOID_0111884	Diamond-Blackfan anemia 9	http://purl.obolibrary.org/obo/DOID_1339	Diamond-Blackfan anemia		A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS10 gene on chromosome 6p21.31.
http://purl.obolibrary.org/obo/DOID_0111885	Diamond-Blackfan anemia 2	http://purl.obolibrary.org/obo/DOID_1339	Diamond-Blackfan anemia		A Diamond-Blackfan anemia that has_material_basis_in mutation in a region of chromosome 8p23.3-p22.
http://purl.obolibrary.org/obo/DOID_0111886	Diamond-Blackfan anemia 19	http://purl.obolibrary.org/obo/DOID_1339	Diamond-Blackfan anemia		A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35 gene on chromosome 9q33.3.
http://purl.obolibrary.org/obo/DOID_0111887	Diamond-blackfan anemia 3	http://purl.obolibrary.org/obo/DOID_1339	Diamond-Blackfan anemia		A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS24 gene on chromosome 10q22.3.
http://purl.obolibrary.org/obo/DOID_0111888	Diamond-Blackfan anemia 10	http://purl.obolibrary.org/obo/DOID_1339	Diamond-Blackfan anemia		A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS26 gene on chromosome 12q13.2.
http://purl.obolibrary.org/obo/DOID_0111889	Diamond-Blackfan anemia 13	http://purl.obolibrary.org/obo/DOID_1339	Diamond-Blackfan anemia		A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS29 gene on chromosome 14q21.3.
http://purl.obolibrary.org/obo/DOID_0111890	Diamond-Blackfan anemia 4	http://purl.obolibrary.org/obo/DOID_1339	Diamond-Blackfan anemia		A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS17 gene on chromosome 15q25.2.
http://purl.obolibrary.org/obo/DOID_0111891	Diamond-Blackfan anemia 20	http://purl.obolibrary.org/obo/DOID_1339	Diamond-Blackfan anemia		A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS15A gene on chromosome 16p12.3.
http://purl.obolibrary.org/obo/DOID_0111892	Diamond-Blackfan anemia 11	http://purl.obolibrary.org/obo/DOID_1339	Diamond-Blackfan anemia		A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL26 gene on chromosome 17p13.1.
http://purl.obolibrary.org/obo/DOID_0111893	Diamond-Blackfan anemia 16	http://purl.obolibrary.org/obo/DOID_1339	Diamond-Blackfan anemia		A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL27 gene on chromosome 17q21.31.
http://purl.obolibrary.org/obo/DOID_0111894	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	http://purl.obolibrary.org/obo/DOID_1339	Diamond-Blackfan anemia		A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in the RPS28 gene on chromosome 19p13.2.
http://purl.obolibrary.org/obo/DOID_0111895	Diamond-Blackfan anemia 1	http://purl.obolibrary.org/obo/DOID_1339	Diamond-Blackfan anemia		A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS19 gene on chromosome 19q13.2.
http://purl.obolibrary.org/obo/DOID_0111896	Diamond-Blackfan anemia 18	http://purl.obolibrary.org/obo/DOID_1339	Diamond-Blackfan anemia		A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL18 gene on chromosome 19q13.33.
http://purl.obolibrary.org/obo/DOID_0111897	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	http://purl.obolibrary.org/obo/DOID_1339	Diamond-Blackfan anemia		A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in the TSR2 gene on chromosome Xp11.22.
http://purl.obolibrary.org/obo/DOID_0080912	cerebrooculofacioskeletal syndrome 2	http://purl.obolibrary.org/obo/DOID_0080910	cerebrooculofacioskeletal syndrome		A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0112281	spondyloepiphyseal dysplasia Stanescu type	http://purl.obolibrary.org/obo/DOID_0112280	spondyloepiphyseal dysplasia		A spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11.
http://purl.obolibrary.org/obo/DOID_0112254	hepatic venoocclusive disease with immunodeficiency	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells, hepatic vascular occlusion, and fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in the SP110 gene on chromosome 2q37.1.
http://purl.obolibrary.org/obo/DISDRIV_0000001	nutrient deficiency	http://purl.obolibrary.org/obo/DISDRIV_0000000	disease driver		A disease driver that is comprised of a shortage of a nutrient.
http://purl.obolibrary.org/obo/DISDRIV_0000002	socioeconomic driver	http://purl.obolibrary.org/obo/DISDRIV_0000000	disease driver		A disease driver that is related to or concerning the interaction of social and economic factors.
http://purl.obolibrary.org/obo/DISDRIV_0000003	biological driver	http://purl.obolibrary.org/obo/DISDRIV_0000000	disease driver		A disease driver that is of biological origin.
http://purl.obolibrary.org/obo/DISDRIV_0000004	deficiency of biotin	http://purl.obolibrary.org/obo/DISDRIV_0000001	nutrient deficiency		A nutrient deficiency of vitamin B7 (biotin) foods like eggs, milk, and bananas.
http://purl.obolibrary.org/obo/DISDRIV_0000005	deficiency of choline	http://purl.obolibrary.org/obo/DISDRIV_0000001	nutrient deficiency		A nutrient deficiency of choline.
http://purl.obolibrary.org/obo/DISDRIV_0000006	chemical driver	http://purl.obolibrary.org/obo/DISDRIV_0000000	disease driver		A disease driver that is a chemical.
http://purl.obolibrary.org/obo/DISDRIV_0000007	deficiency of vitamin C	http://purl.obolibrary.org/obo/DISDRIV_0000001	nutrient deficiency		A nutrient deficiency of vitamin C.
http://purl.obolibrary.org/obo/SYMP_0020045	balance symptom	http://purl.obolibrary.org/obo/SYMP_0000410	neurological and physiological symptom		A neurological and physiological symptom that is characterized by any of the following: dizziness or vertigo (a spinning sensation); falling or feeling as if you are going to fall; staggering when walking; lightheadedness, faintness, or a floating sensation; and confusion or disorientation.
http://purl.obolibrary.org/obo/DOID_0081334	Nestor-Guillermo progeria syndrome	http://purl.obolibrary.org/obo/DOID_0081332	progeroid syndrome		A progeroid syndrome that is characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life and that has_material_basis_in homozygous mutation in the BANF1 gene on chromosome 11q13. Onset is after 2 years of age.
http://purl.obolibrary.org/obo/DOID_0081362	Pierpont syndrome	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that is characterized by distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies and that has_material_basis_in heterozygous mutation in the TBL1XR1 gene on chromosome 3q26.
http://purl.obolibrary.org/obo/DOID_0081341	congenital myopathy 5	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy that is characterized by the onset of muscle weakness in infancy manifest as neonatal hypotonia, delayed motor development, and often distal contractures and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding titin (TTN) on chromosome 2q31.
http://purl.obolibrary.org/obo/DOID_0070523	peeling skin syndrome 4	http://purl.obolibrary.org/obo/DOID_0060283	peeling skin syndrome		A peeling skin syndrome that has_material_basis_in homozygous mutation in the CSTA gene on chromosome 3q21.1.
http://purl.obolibrary.org/obo/DOID_0070530	foveal hypoplasia 1	http://purl.obolibrary.org/obo/DOID_5679	retinal disease		A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.
http://purl.obolibrary.org/obo/DOID_0070524	peeling skin syndrome 5	http://purl.obolibrary.org/obo/DOID_0060283	peeling skin syndrome		A peeling skin syndrome that has_material_basis_in homozygous mutation in the SERPINB8 gene on chromosome 18q22.1.
http://purl.obolibrary.org/obo/DOID_0081411	B-lymphoblastic leukemia with PAX5 p.P80R	http://purl.obolibrary.org/obo/DOID_0080630	B-lymphoblastic leukemia/lymphoma		A B-lymphoblastic leukemia/lymphoma that is associated with PAX5 P80R mutation.
http://purl.obolibrary.org/obo/DOID_0081453	Dent disease 1	http://purl.obolibrary.org/obo/DOID_0050699	Dent disease		A Dent disease that is characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure and that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11. Extra-renal involvement is absent.
http://purl.obolibrary.org/obo/DOID_0081454	Dent disease 2	http://purl.obolibrary.org/obo/DOID_0050699	Dent disease		A Dent disease that is characterized by low molecular weight proteinuria and other features of Fanconi syndrome but typically do not include proximal renal tubular acidosis and that has_material_basis_in mutation in the OCRL gene on chromosome Xq26.
http://purl.obolibrary.org/obo/DOID_0060948	Ullrich congenital muscular dystrophy 2	http://purl.obolibrary.org/obo/DOID_0050558	Ullrich congenital muscular dystrophy		An Ullrich congenital muscular dystrophy characterized by joint hypermobility, proximal contractures, and muscle weakness precluding ambulation that has_material_basis_in homozygous mutation in the COL12A1 gene on chromosome 6q.
http://purl.obolibrary.org/obo/DOID_0060953	ZTTK syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by delayed psychomotor development and intellectual disability that has_material_basis_in heterozygous mutation in the SON gene on chromosome 21q22.
http://purl.obolibrary.org/obo/DOID_0060958	orofaciodigital syndrome XIV	http://purl.obolibrary.org/obo/DOID_4501	orofaciodigital syndrome		An orofaciodigital syndrome that is characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux) that has_material_basis_in homozygous or compound heterozygous mutation in the C2CD3 gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0070540	mitochondrial short-chain enoyl-CoA hydratase 1 deficiency	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		A mitochondrial metabolism disease characterized by a spectrum of phenotypes including delayed psychomotor development, neurodegeneration, increased lactic acid, brain lesions in the basal ganglia, and dystonia that has material basis in homozygous or compound heterozygous mutation in the ECHS1 gene on chromosome 10q26.3.
http://purl.obolibrary.org/obo/DOID_0070542	neurodevelopmental disorder with spastic paraplegia and microcephaly	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder characterized delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the GPT2 gene on chromosome 16q11.2. Postnatal microcephaly and spastic paraplegia are also common.
http://purl.obolibrary.org/obo/DOID_0070590	spermatogenic failure 91	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by teratozoospermia, consisting of a misshapen rounded sperm head and detachment of the acrosome, and sperm that fail to attach to the zona pellucida that has_material_basis_in homozygous or compound heterozygous mutation in the CCIN gene on chromosome 9p13.3.
http://purl.obolibrary.org/obo/DOID_0061002	congenital amegakaryocytic thrombocytopenia 2	http://purl.obolibrary.org/obo/DOID_0090118	congenital amegakaryocytic thrombocytopenia		A thrombocytopenia characterized by thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure that has_material_basis_in homozygous mutation in the THPO gene on chromosome 3q27.
http://purl.obolibrary.org/obo/SYMP_0000537	cyanosis	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by a bluish or purplish discoloration (as of skin) due to deficient oxygenation of the blood.
http://purl.obolibrary.org/obo/SYMP_0000219	receptive aphasia	http://purl.obolibrary.org/obo/SYMP_0000215	inability to comprehend speech		An inability to comprehend speech that is characterized by an inability to understand spoken, written, or tactile speech symbols that results from damage (as by a brain lesion) to an area of the brain (as Wernicke's area) concerned with language.
http://purl.obolibrary.org/obo/SYMP_0000682	altered mental status	http://purl.obolibrary.org/obo/SYMP_0000480	nervous system symptom		A nervous system symptom that is characterized by a host of presentations that include changes in cognition, mood, behavior, and/or level of arousal.
http://purl.obolibrary.org/obo/SYMP_0000823	sinus bradycardia	http://purl.obolibrary.org/obo/SYMP_0000231	bradycardia		Sinus bradycardia is a bradycardia where the sinus rhythm is abnormally slow bradycardia consisting of a sinus rhythm at a rate lower than 60 beats per minute.
http://purl.obolibrary.org/obo/SYMP_0000242	cough with bloody sputum	http://purl.obolibrary.org/obo/SYMP_0000614	cough		A cough that is characterized by production and expectoration (bringing up) of sputum that is bright red or pink and frothy.
http://purl.obolibrary.org/obo/TRANS_0000010	vehicle-borne transmission	http://purl.obolibrary.org/obo/TRANS_0000002	indirect transmission		Vehicle-borne transmission is an indirect transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by inanimate intermediary vehicle objects.
http://purl.obolibrary.org/obo/DOID_0081009	Bardet-Biedl syndrome 20	http://purl.obolibrary.org/obo/DOID_1935	Bardet-Biedl syndrome		A Bardet-Biedl syndrome that is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females and that has_material_basis_in homozygous mutation in the IFT172 gene on chromosome 2p23.
http://purl.obolibrary.org/obo/DOID_0070336	arthrogryposis multiplex congenita-6	http://purl.obolibrary.org/obo/DOID_0080954	arthrogryposis multiplex congenita		An arthrogryposis multiplex congenita characterized by congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops and that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23.
http://purl.obolibrary.org/obo/DOID_0081126	DeSanto-Shinawi syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11.
http://purl.obolibrary.org/obo/DOID_0081127	mandibuloacral dysplasia	http://purl.obolibrary.org/obo/DOID_0080006	bone development disease		A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body.
http://purl.obolibrary.org/obo/DOID_0081128	mandibuloacral dysplasia type A lipodystrophy	http://purl.obolibrary.org/obo/DOID_0081127	mandibuloacral dysplasia		A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk.
http://purl.obolibrary.org/obo/DOID_0081129	mandibuloacral dysplasia type B lipodystrophy	http://purl.obolibrary.org/obo/DOID_0081127	mandibuloacral dysplasia		A mandibuloacral dysplasia that has_material_basis_in compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34 and that is characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities.
http://purl.obolibrary.org/obo/DOID_0081130	BH4-deficient hyperphenylalaninemia C	http://purl.obolibrary.org/obo/DOID_0081132	tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia		A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the QDPR gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 4p15.
http://purl.obolibrary.org/obo/DOID_0081131	BH4-deficient hyperphenylalaninemia D	http://purl.obolibrary.org/obo/DOID_0081132	tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia		A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by mild transient hyperphenylalaninemia often detected by newborn screening and that has_material_basis_in homozygous or compound heterozygous mutation in the PCBD gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 10q22.
http://purl.obolibrary.org/obo/DOID_0081132	tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4.
http://purl.obolibrary.org/obo/DOID_0081133	3-methylglutaconic aciduria type 7a	http://purl.obolibrary.org/obo/DOID_0110003	3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia		A 3-methylglutaconic aciduria that is characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia and that has_material_basis_in heterozygous dominant-negative mutation in the CLPB gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0081134	3-methylglutaconic aciduria type 7b	http://purl.obolibrary.org/obo/DOID_0110003	3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia		A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous loss-of-function mutations in the CLPB gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0081135	agammaglobulinemia 2	http://purl.obolibrary.org/obo/DOID_2583	agammaglobulinemia		An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the immunoglobulin lambda-like-1 gene (IGLL1) on chromosome 22q11.
http://purl.obolibrary.org/obo/DOID_0081136	agammaglobulinemia 1	http://purl.obolibrary.org/obo/DOID_2583	agammaglobulinemia		An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the mu heavy-chain gene (IGHM) on chromosome 14q32.
http://purl.obolibrary.org/obo/DOID_0081137	agammaglobulinemia 3	http://purl.obolibrary.org/obo/DOID_2583	agammaglobulinemia		An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79A gene on chromosome 19q13.2.
http://purl.obolibrary.org/obo/DOID_0081138	agammaglobulinemia 6	http://purl.obolibrary.org/obo/DOID_2583	agammaglobulinemia		An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79B gene on chromosome 17q23.
http://purl.obolibrary.org/obo/DOID_0081139	agammaglobulinemia 7	http://purl.obolibrary.org/obo/DOID_2583	agammaglobulinemia		An agammaglobulinemia that has_material_basis_in homozygous mutation in the PIK3R1 gene on chromosome 5q13.
http://purl.obolibrary.org/obo/DOID_0081140	agammaglobulinemia 8A	http://purl.obolibrary.org/obo/DOID_2583	agammaglobulinemia		An agammaglobulinemia that has_material_basis_in heterozygous dominant-negative mutation in the TCF3 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0081141	agammaglobulinemia 9	http://purl.obolibrary.org/obo/DOID_2583	agammaglobulinemia		An agammaglobulinemia that is characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC39A7 gene on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0081142	agammaglobulinemia 10	http://purl.obolibrary.org/obo/DOID_2583	agammaglobulinemia		An agammaglobulinemia that is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system, and that has_material_basis_in heterozygous mutation in the SPI1 gene on chromosome 11p11.
http://purl.obolibrary.org/obo/DOID_0081143	agammaglobulinemia 8B	http://purl.obolibrary.org/obo/DOID_2583	agammaglobulinemia		An agammaglobulinemia that is characterized by onset of recurrent infections in early childhood and that has_material_basis_in homozygous loss-of-function mutation in the TCF3 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0081144	common variable immunodeficiency 1	http://purl.obolibrary.org/obo/DOID_12177	common variable immunodeficiency		A common variable immunodeficiency that has_material_basis_in homozygous mutation in the ICOS gene on chromosome 2q33.
http://purl.obolibrary.org/obo/DOID_0081145	common variable immunodeficiency 2	http://purl.obolibrary.org/obo/DOID_12177	common variable immunodeficiency		A common variable immunodeficiency that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TNFRSF13B gene, which encodes the transmembrane activator and CAML interactor (TACI), on chromosome 17p11.2.
http://purl.obolibrary.org/obo/DOID_0081146	common variable immunodeficiency 3	http://purl.obolibrary.org/obo/DOID_12177	common variable immunodeficiency		A common variable immunodeficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CD19 gene on chromosome 16p11.2.
http://purl.obolibrary.org/obo/DOID_0081147	common variable immunodeficiency 4	http://purl.obolibrary.org/obo/DOID_12177	common variable immunodeficiency		A common variable immunodeficiency that has_material_basis_in homozygous mutation in the BAFFR gene (TNFRSF13C), which encodes the B-cell activating factor receptor, on chromosome 22q13.
http://purl.obolibrary.org/obo/DOID_0081148	common variable immunodeficiency 5	http://purl.obolibrary.org/obo/DOID_12177	common variable immunodeficiency		A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD20 gene (MS4A1) on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0081149	common variable immunodeficiency 6	http://purl.obolibrary.org/obo/DOID_12177	common variable immunodeficiency		A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD81 gene on chromosome 11p.
http://purl.obolibrary.org/obo/DOID_0081150	common variable immunodeficiency 7	http://purl.obolibrary.org/obo/DOID_12177	common variable immunodeficiency		A common variable immunodeficiency that has_material_basis_in compound heterozygous mutation in the CD21 gene (CR2) on chromosome 1q32.
http://purl.obolibrary.org/obo/DOID_0081151	common variable immunodeficiency 8	http://purl.obolibrary.org/obo/DOID_12177	common variable immunodeficiency		A common variable immunodeficiency that has_material_basis_in homozygous mutation in the LRBA gene on chromosome 4q31.
http://purl.obolibrary.org/obo/DOID_0081152	common variable immunodeficiency 10	http://purl.obolibrary.org/obo/DOID_12177	common variable immunodeficiency		A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the NFKB2 gene on chromosome 10q24.
http://purl.obolibrary.org/obo/DOID_0081153	common variable immunodeficiency 11	http://purl.obolibrary.org/obo/DOID_12177	common variable immunodeficiency		A common variable immunodeficiency that has_material_basis_in homozygous mutation in the IL21 gene on chromosome 4q27.
http://purl.obolibrary.org/obo/DOID_0081154	common variable immunodeficiency 12	http://purl.obolibrary.org/obo/DOID_12177	common variable immunodeficiency		A common variable immunodeficiency that is characterized by recurrent infections and associated with hypogammaglobulinemia and that has_material_basis_in heterozygous mutation in the NFKB1 gene on chromosome 4q24.
http://purl.obolibrary.org/obo/DOID_0081155	common variable immunodeficiency 13	http://purl.obolibrary.org/obo/DOID_12177	common variable immunodeficiency		A common variable immunodeficiency that is characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells and that has_material_basis_in heterozygous mutation in the IKZF1 gene on chromosome 7p12.
http://purl.obolibrary.org/obo/DOID_0081156	common variable immunodeficiency 14	http://purl.obolibrary.org/obo/DOID_12177	common variable immunodeficiency		A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the IRF2BP2 gene on chromosome 1q42.
http://purl.obolibrary.org/obo/DOID_0081157	dilated cardiomyopathy 1LL	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the PRDM16 gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0081158	dilated cardiomyopathy 1MM	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the MYBPC3 gene on chromosome 11p11.
http://purl.obolibrary.org/obo/DOID_0081159	dilated cardiomyopathy 2C	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has_material_basis_in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34.
http://purl.obolibrary.org/obo/DOID_0081160	dilated cardiomyopathy 2D	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13.
http://purl.obolibrary.org/obo/DOID_0081161	dilated cardiomyopathy 2E	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13.
http://purl.obolibrary.org/obo/DOID_0081162	dilated cardiomyopathy 2F	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has_material_basis_in homozygous mutation in the BAG5 gene on chromosome 14q32.
http://purl.obolibrary.org/obo/DOID_0081163	dilated cardiomyopathy 2G	http://purl.obolibrary.org/obo/DOID_12930	dilated cardiomyopathy		A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31.
http://purl.obolibrary.org/obo/DOID_0081168	HMG-CoA synthase 2 deficiency	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder that is characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma and that has_material_basis_in mutation in the HMGCS2 gene on chromosome 1p12.
http://purl.obolibrary.org/obo/DOID_0081169	Leber congenital amaurosis 19	http://purl.obolibrary.org/obo/DOID_14791	Leber congenital amaurosis		A Leber congenital amaurosis that has_material_basis_in mutation in the USP45 gene on chromosome 6q16.
http://purl.obolibrary.org/obo/DOID_0081175	short stature, hearing loss, retinitis pigmentosa, and distinctive facies	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC2 gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0081176	hypotonia, ataxia, and delayed development syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia and that has_material_basis_in heterozygous mutation in the EBF3 gene on chromosome 10q26.
http://purl.obolibrary.org/obo/DOID_0081177	autosomal recessive intellectual developmental disorder 1	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding neurotrypsin (PRSS12) on chromosome 4q25.
http://purl.obolibrary.org/obo/DOID_0081178	autosomal recessive intellectual developmental disorder 2	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding cereblon (CRBN) on chromosome 3p26.
http://purl.obolibrary.org/obo/DOID_0081179	autosomal recessive intellectual developmental disorder 3	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CC2D1A gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0081180	autosomal recessive intellectual developmental disorder 12	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ST3GAL3 gene on chromosome 1p34.
http://purl.obolibrary.org/obo/DOID_0081181	autosomal recessive intellectual developmental disorder 5	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NSUN2 gene on chromosome 5p15.
http://purl.obolibrary.org/obo/DOID_0081182	autosomal recessive intellectual developmental disorder 6	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ionotropic glutamate receptor-6 gene (GRIK2) on chromosome 6q16.
http://purl.obolibrary.org/obo/DOID_0081183	autosomal recessive intellectual developmental disorder 7	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TUSC3 gene on chromosome 8p22.
http://purl.obolibrary.org/obo/DOID_0081184	autosomal recessive intellectual developmental disorder 9/26	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 9.1-Mb region on proximal chromosome 14q between SNPs rs10132585 and rs1278951, termed the MRT9 locus.
http://purl.obolibrary.org/obo/DOID_0081185	autosomal recessive intellectual developmental disorder 10/20	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 21.7-Mb region in the pericentromeric region of chromosome 16 between SNPs rs7197568 and rs7197227, termed the MRT20 locus.
http://purl.obolibrary.org/obo/DOID_0081186	autosomal recessive intellectual developmental disorder 11	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus on chromosome 19q, termed MRT11. Haplotype analysis delineated a 5.4-Mb candidate region between SNPs rs2109075 and rs8101149.
http://purl.obolibrary.org/obo/DOID_0081187	autosomal recessive intellectual developmental disorder 4	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus, termed MRT4, on chromosome 1p21.1-p13.3.
http://purl.obolibrary.org/obo/DOID_0081188	autosomal recessive intellectual developmental disorder 14	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TECR gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0081189	autosomal recessive intellectual developmental disorder 16	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in a 23.52-Mb region of homozygosity on chromosome 9p23-p13.3 between rs10738277 and rs12376565, designated MRT16.
http://purl.obolibrary.org/obo/DOID_0081190	autosomal recessive intellectual developmental disorder 18	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development with or without epilepsy and that has_material_basis_in homozygous or compound heterozygous mutation in the MED23 gene on chromosome 6q23.
http://purl.obolibrary.org/obo/DOID_0081191	autosomal recessive intellectual developmental disorder 31	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 10.5-Mb region on proximal chromosome 4q between SNPs rs11944876 and rs6551838.
http://purl.obolibrary.org/obo/DOID_0081192	autosomal recessive intellectual developmental disorder 29	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a locus on distal chromosome 4q. The interval spanned 52.2 Mb between SNPs rs1426138 and rs2055392.
http://purl.obolibrary.org/obo/DOID_0081193	autosomal recessive intellectual developmental disorder 27	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINS gene (LINS1) on chromosome 15q26.
http://purl.obolibrary.org/obo/DOID_0081194	autosomal recessive intellectual developmental disorder 33	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to chromosome 17p in an interval spanning 5.1 Mb between SNPs rs1367950 and rs1826925.
http://purl.obolibrary.org/obo/DOID_0081195	autosomal recessive intellectual developmental disorder 30	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 22-Mb region on proximal chromosome 6q between SNPs rs4612125 and rs285651.
http://purl.obolibrary.org/obo/DOID_0081196	autosomal recessive intellectual developmental disorder 23	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 45.6-Mb interval in the pericentromeric region of chromosome 11 between SNPs rs604518 and rs10899421.
http://purl.obolibrary.org/obo/DOID_0081197	autosomal recessive intellectual developmental disorder 24	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 16.4-Mb region on chromosome 6p between SNPs rs651733 and rs1508668.
http://purl.obolibrary.org/obo/DOID_0081198	autosomal recessive intellectual developmental disorder 25	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 19.5-Mb region on chromosome 12q between SNPs rs4760658 and rs1882033.
http://purl.obolibrary.org/obo/DOID_0081199	autosomal recessive intellectual developmental disorder 28	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 4.4-Mb region on chromosome 6q between SNPs rs6935718 and rs388609.
http://purl.obolibrary.org/obo/DOID_0081200	autosomal recessive intellectual developmental disorder 34	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the CRADD gene on chromosome 12q22.
http://purl.obolibrary.org/obo/DOID_0081201	autosomal recessive intellectual developmental disorder 35	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 12.2-Mb region on chromosome 17q21.31-q22 between SNPs rs4792947 and rs11079258.
http://purl.obolibrary.org/obo/DOID_0081202	autosomal recessive intellectual developmental disorder 37	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ANK3 gene on chromosome 10q21.
http://purl.obolibrary.org/obo/DOID_0081203	autosomal recessive intellectual developmental disorder 38	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HERC2 gene on chromosome 15q13.
http://purl.obolibrary.org/obo/DOID_0081204	autosomal recessive intellectual developmental disorder 39	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TTI2 gene on chromosome 8p12.
http://purl.obolibrary.org/obo/DOID_0081205	autosomal recessive intellectual developmental disorder 40	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF2 gene on chromosome 8q24.
http://purl.obolibrary.org/obo/DOID_0081206	autosomal recessive intellectual developmental disorder 41	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0081207	autosomal recessive intellectual developmental disorder 43	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features and that has_material_basis_in homozygous mutation in the KIAA1033 gene (WASHC4) on chromosome 12q23. Some patients may have significant motor delays.
http://purl.obolibrary.org/obo/DOID_0081208	autosomal recessive intellectual developmental disorder 44	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL23 gene on chromosome 17q25.
http://purl.obolibrary.org/obo/DOID_0081209	autosomal recessive intellectual developmental disorder 45	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FBXO31 gene on chromosome 16q24.
http://purl.obolibrary.org/obo/DOID_0081210	autosomal recessive intellectual developmental disorder 46	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NDST1 gene on chromosome 5q33.
http://purl.obolibrary.org/obo/DOID_0081211	autosomal recessive intellectual developmental disorder 47	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FMN2 gene on chromosome 1q43.
http://purl.obolibrary.org/obo/DOID_0081212	autosomal recessive intellectual developmental disorder 48	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the SLC6A17 gene on chromosome 1p13.
http://purl.obolibrary.org/obo/DOID_0081213	autosomal recessive intellectual developmental disorder 50	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the EDC3 gene on chromosome 15q24.
http://purl.obolibrary.org/obo/DOID_0081214	autosomal recessive intellectual developmental disorder 51	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HNMT gene on chromosome 2q22.
http://purl.obolibrary.org/obo/DOID_0081215	autosomal recessive intellectual developmental disorder 52	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LMAN2L gene on chromosome 2q11.
http://purl.obolibrary.org/obo/DOID_0081216	autosomal recessive intellectual developmental disorder 54	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TNIK gene on chromosome 3q26.
http://purl.obolibrary.org/obo/DOID_0081217	autosomal recessive intellectual developmental disorder 56	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZC3H14 gene on chromosome 14q31.
http://purl.obolibrary.org/obo/DOID_0081218	autosomal recessive intellectual developmental disorder 74	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that is characterized by intellectual impairment, macrocephaly, and dysmorphic features and that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13. Epilepsy with eyelid myoclonus has also been reported.
http://purl.obolibrary.org/obo/DOID_0081219	autosomal recessive intellectual developmental disorder 57	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the MBOAT7 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0081220	autosomal recessive intellectual developmental disorder 58	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the ELP2 gene on chromosome 18q12.
http://purl.obolibrary.org/obo/DOID_0081221	autosomal recessive intellectual developmental disorder 59	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the IMPA1 gene on chromosome 8q21.
http://purl.obolibrary.org/obo/DOID_0081222	autosomal recessive intellectual developmental disorder 60	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF13 gene on chromosome 1p13.
http://purl.obolibrary.org/obo/DOID_0081223	glycosylphosphatidylinositol biosynthesis defect 16	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PIGC gene on chromosome 1q23.
http://purl.obolibrary.org/obo/DOID_0081224	autosomal recessive intellectual developmental disorder 63	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CAMK2A gene on chromosome 5q32.
http://purl.obolibrary.org/obo/DOID_0081225	autosomal recessive intellectual developmental disorder 64	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINGO1 gene on chromosome 15q24.
http://purl.obolibrary.org/obo/DOID_0081226	autosomal recessive intellectual developmental disorder 65	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KDM5B gene on chromosome 1q32.
http://purl.obolibrary.org/obo/DOID_0081227	autosomal recessive intellectual developmental disorder 66	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that is characterized by delayed speech development, neuropsychiatric symptoms, and relatively normal life span and that has_material_basis_in homozygous mutation in the C12ORF4 gene on chromosome 12p13.
http://purl.obolibrary.org/obo/DOID_0081228	autosomal recessive intellectual developmental disorder 67	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation or compound heterozygous mutation in the EIF3F gene on chromosome 11p15.
http://purl.obolibrary.org/obo/DOID_0081229	autosomal recessive intellectual developmental disorder 68	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRMT1 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0081230	autosomal recessive intellectual developmental disorder 69	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZBTB11 gene on chromosome 3q12.
http://purl.obolibrary.org/obo/DOID_0081231	autosomal recessive intellectual developmental disorder 70	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that is characterized primarily by impaired intellectual developmen and that has_material_basis_in homozygous mutation in the RSRC1 gene on chromosome 3q25.
http://purl.obolibrary.org/obo/DOID_0081232	autosomal recessive intellectual developmental disorder 71	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ALKBH8 gene on chromosome 11q22.
http://purl.obolibrary.org/obo/DOID_0081233	autosomal recessive intellectual developmental disorder 73	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features and that has_material_basis_in homozygous mutation in the NAA20 gene on chromosome 20p11.
http://purl.obolibrary.org/obo/DOID_0081234	autosomal recessive intellectual developmental disorder 75	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay apparent from infancy or early childhood and moderate to profoundly impaired intellectual development and that has_material_basis_in homozygous mutation in the PIDD1 gene on chromosome 11p15.
http://purl.obolibrary.org/obo/DOID_0081235	autosomal recessive intellectual developmental disorder 76	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the GRIA1 gene on chromosome 5q33.
http://purl.obolibrary.org/obo/DOID_0081236	autosomal recessive intellectual developmental disorder 77	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development apparent from infancy and that has_material_basis_in homozygous mutation in the CEP104 gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0081237	acromesomelic dysplasia 3	http://purl.obolibrary.org/obo/DOID_0080049	acromesomelic dysplasia		An acromesomelic dysplasia that is characterized by short stature and shortened limbs with severe distal limb anomalies with rudimentary fingers and toes and that has_material_basis_in homozygous mutation in the BMPR1B gene on chromosome 4q22.
http://purl.obolibrary.org/obo/DOID_0081238	acromesomelic dysplasia 4	http://purl.obolibrary.org/obo/DOID_0080049	acromesomelic dysplasia		An acromesomelic dysplasia that is characterized by disproportionate short stature due to mesomelic shortening of the limbs and that has_material_basis_in homozygous mutation in the PRKG2 gene on chromosome 4q21.
http://purl.obolibrary.org/obo/DOID_0081239	injection anthrax	http://purl.obolibrary.org/obo/DOID_7427	anthrax disease		An anthrax disease that is characterized by infection at the injection site or deep under the skin or in the muscle where the drug was injected and is caused by heroin contaminated with anthrax spores.
http://purl.obolibrary.org/obo/DOID_0081329	glycogen storage disease I	http://purl.obolibrary.org/obo/DOID_2747	glycogen storage disease		A glycogen storage disease that is characterized by severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas.
http://purl.obolibrary.org/obo/DOID_0081368	Paget's disease of bone 5	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene on chromosome 8q24.
http://purl.obolibrary.org/obo/DOID_0070527	Borrelia miyamotoi disease	http://purl.obolibrary.org/obo/DOID_0050338	primary bacterial infectious disease		A primary bacterial infectious disease that has_material_basis_in Borrelia miyamotoi, which is transmitted_by the blacklegged tick (Ixodes scapularis), the western blacklegged tick (Ixodes pacificus), the taiga tick (Ixodes persulcatus), or the castor bean tick (Ixodes ricinus). The infection has_symptom fever, headache, chills, muscle pain, joint pain, asthenia, fatigue and nausea, and rarely relapses.
http://purl.obolibrary.org/obo/DOID_0081426	autosomal recessive distal hereditary motor neuronopathy 7	http://purl.obolibrary.org/obo/DOID_0111197	autosomal recessive distal hereditary motor neuronopathy		An autosomal recessive distal hereditary motor neuronopathy characterized by onset of lower leg weakness in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the VWA1 gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0081427	autosomal recessive distal hereditary motor neuronopathy 8	http://purl.obolibrary.org/obo/DOID_0111197	autosomal recessive distal hereditary motor neuronopathy		An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21.
http://purl.obolibrary.org/obo/DOID_0060978	Fanconi anemia complementation group W	http://purl.obolibrary.org/obo/DOID_13636	Fanconi anemia		A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the RFWD3 gene on chromosome 16q23.
http://purl.obolibrary.org/obo/DOID_0060979	Fanconi anemia complementation group S	http://purl.obolibrary.org/obo/DOID_13636	Fanconi anemia		A Fanconi anemia characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features that has_material_basis_in compound heterozygous or homozygous mutation in the BRCA1 gene on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0060980	polycystic liver disease 1	http://purl.obolibrary.org/obo/DOID_0050770	polycystic liver disease		A polycystic disease characterized by the presence of multiple liver cysts of biliary epithelial origin that has_material_basis_in heterozygous mutation in the PRKCSH gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0060981	mosaic variegated aneuploidy syndrome 4	http://purl.obolibrary.org/obo/DOID_0080688	mosaic variegated aneuploidy syndrome		A mosaic variegated aneuploidy syndrome that is characterized by mosaic aneuploidy, patients have microcephaly, mild developmental delay, and mild maculopathy and that has_material_basis_in compound heterozygous mutation in the CENATAC gene on chromosome 11q23.
http://purl.obolibrary.org/obo/DOID_0060982	mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition	http://purl.obolibrary.org/obo/DOID_0080688	mosaic variegated aneuploidy syndrome		A mosaic variegated aneuploidy syndrome that is characterized by increased susceptibility to benign and malignant neoplasms beginning in early childhood that has_material_basis_in compound heterozygous mutation in the MAD1L1 gene on chromosome 7p22.
http://purl.obolibrary.org/obo/DOID_0060983	sitosterolemia 2	http://purl.obolibrary.org/obo/DOID_0090019	sitosterolemia		A sitosterolemia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG5 gene on chromosome 2p21.
http://purl.obolibrary.org/obo/DOID_0070556	cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1	http://purl.obolibrary.org/obo/DOID_0050997	cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome		A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the VLDLR gene, which encodes the very low density lipoprotein receptor, on chromosome 9p24.2.
http://purl.obolibrary.org/obo/DOID_0070557	cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2	http://purl.obolibrary.org/obo/DOID_0050997	cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome		A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous mutation in the WDR81 gene on chromosome 17p13.3.
http://purl.obolibrary.org/obo/DOID_0070558	autosomal recessive spinocerebellar ataxia 34	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CA8 gene on chromosome 8q12.1.
http://purl.obolibrary.org/obo/DOID_0070559	cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4	http://purl.obolibrary.org/obo/DOID_0050997	cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome		A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATP8A2 gene on chromosome 13q12.13.
http://purl.obolibrary.org/obo/DOID_0070560	glucose transporter type 1 deficiency syndrome	http://purl.obolibrary.org/obo/DOID_4194	glucose metabolism disease		A glucose metabolism disease characterized by deficient glucose transport over the blood-brain barrier and reduced glucose availability in the central nervous system that has_material_basis_in mutation in the SLC2A1 gene on chromosome 1p34.2.
http://purl.obolibrary.org/obo/DOID_0070561	glucose transporter type 1 deficiency syndrome 1	http://purl.obolibrary.org/obo/DOID_0070560	glucose transporter type 1 deficiency syndrome		A glucose transporter type 1 deficiency syndrome characterized by infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, and complex movement disorders.
http://purl.obolibrary.org/obo/DOID_0070562	Fanconi-Bickel syndrome	http://purl.obolibrary.org/obo/DOID_4194	glucose metabolism disease		A glucose metabolism disease characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose that has_material_basis_in homozygous or compound heterozygous mutations in the SLC2A2 gene on chromosome 3q26.2.
http://purl.obolibrary.org/obo/DOID_0070563	glucose-galactose malabsorption	http://purl.obolibrary.org/obo/DOID_4194	glucose metabolism disease		A glucose metabolism disease characterized by a defect in glucose and galactose transport across the intestinal brush border, resulting in neonatal onset of life-threatening watery diarrhea and dehydration, that has_material_basis_in homozygous mutation in the SLC5A1 gene on chromosome 22q12.3.
http://purl.obolibrary.org/obo/DOID_0060996	poor metabolism of thiopurines 2	http://purl.obolibrary.org/obo/DOID_0080172	poor metabolism of thiopurines		A poor metabolism of thiopurines that has_material_basis_in variation in the NUDT15 gene on chromosome 13q14.
http://purl.obolibrary.org/obo/DOID_0070617	rhabdoid tumor predisposition syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by a markedly increased risk for the development of rhabdoid tumors, rare and highly aggressive malignant tumors occurring in almost any anatomical location predominantly in infants and young children.
http://purl.obolibrary.org/obo/DOID_0060998	striatal degeneration 2	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A multiple system atrophy characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia that has_material_basis_in heterozygous mutation in the PDE10A gene on chromosome 6q27.
http://purl.obolibrary.org/obo/DOID_0051042	autosomal dominant distal hereditary motor neuronopathy 15	http://purl.obolibrary.org/obo/DOID_0111198	autosomal dominant distal hereditary motor neuronopathy		An autosomal dominant distal hereditary motor neuronopathy that is characterized by adult onset of slowly progressive distal weakness and atrophy of the lower limbs associated with absent reflexes and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26.
http://purl.obolibrary.org/obo/DOID_0051043	Charcot-Marie-Tooth disease axonal type 2JJ	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Charcot-Marie-Tooth disease type 2 that is characterized by adult onset of distal sensory impairment and distal muscle weakness and atrophy predominantly affecting the lower limbs and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26.
http://purl.obolibrary.org/obo/DOID_0051044	infantile-onset myofibrillar myopathy 12 with cardiomyopathy	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A myofibrillar myopathy that is characterized by tremor or clonus at birth, followed by onset of rapidly progressive generalized muscle weakness and dilated cardiomyopathy and cardiac failure and that has_material_basis_in homozygous or compound heterozygous mutation in the MYL2 gene on chromosome 12q23.
http://purl.obolibrary.org/obo/DOID_0051045	myofibrillar myopathy 13 with rimmed vacuoles	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A myofibrillar myopathy that is characterized by progressive muscle weakness and atrophy usually beginning in adulthood, although rare patients may have earlier onset, even in childhood and that has_material_basis_in heterozygous mutation in the HSPB8 gene on chromosome 12q24.
http://purl.obolibrary.org/obo/DOID_0051046	spondyloepimetaphyseal dysplasia, Li-Shao-Li type	http://purl.obolibrary.org/obo/DOID_0080027	spondyloepimetaphyseal dysplasia		A spondyloepimetaphyseal dysplasia that is characterized by childhood-onset defective skeletal development, including disproportionate short stature with relatively short lower limbs, limited joint flexion, premature osteoarthritis-like changes in weight-bearing joints, and low bone mass and that has_material_basis_in heterozygous mutation in the CCN2 gene on chromosome 6q23.
http://purl.obolibrary.org/obo/DOID_0051047	congenital disorder of glycosylation type IIbb	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation type II that is characterized by global developmental delay, severely impaired intellectual development, microcephaly, epilepsy, facial dysmorphism, and variable neurologic findings and that has_material_basis_in homozygous mutation in the COG3 gene on chromosome 13q14.
http://purl.obolibrary.org/obo/DOID_0051048	congenital disorder of glycosylation type IIr	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A congenital disorder of glycosylation type II that is characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa and that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.
http://purl.obolibrary.org/obo/DOID_0051049	congenital disorder of glycosylation type IIt	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation type II that is characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the GALNT2 gene on chromosome 1q41.
http://purl.obolibrary.org/obo/DOID_0051050	congenital disorder of glycosylation type IIv	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation type II that is characterized by neurodevelopmental delay and variable facial dysmorphisms and that has_material_basis_in homozygous or compound heterozygous mutation in the EDEM3 gene on chromosome 1q25.
http://purl.obolibrary.org/obo/DOID_0051051	congenital disorder of glycosylation type IIw	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A congenital disorder of glycosylation type II that is characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins and that has_material_basis_in heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23.
http://purl.obolibrary.org/obo/DOID_0051052	congenital disorder of glycosylation type IIy	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation type II that is characterized by poor overall growth and global developmental delay with impaired intellectual development and that has_material_basis_in compound heterozygous mutations in the GET4 gene on chromosome 7p22.
http://purl.obolibrary.org/obo/DOID_0051053	congenital disorder of glycosylation type IIz	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital disorder of glycosylation type II that is characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities and that has_material_basis_in homozygous mutation in the CAMLG gene on chromosome 5q23.
http://purl.obolibrary.org/obo/DOID_0051055	46,XY gonadal dysgenesis with minifascicular neuropathy	http://purl.obolibrary.org/obo/DOID_14447	gonadal dysgenesis		A gonadal dysgenesis that characterized by minifascicular neuropathy and that has_material_basis_in mutation in the desert hedgehog gene (DHH).
http://purl.obolibrary.org/obo/DOID_0061031	autosomal dominant intellectual developmental disorder 57	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TLK2 gene on chromosome 17q23.
http://purl.obolibrary.org/obo/DOID_0061032	autosomal dominant intellectual developmental disorder 58	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SET gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0061033	autosomal dominant intellectual developmental disorder 59	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2G gene on chromosome 10q22.
http://purl.obolibrary.org/obo/DOID_0061034	autosomal dominant intellectual developmental disorder 61	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD) that has_material_basis_in heterozygous mutation in the MED13 gene on chromosome 17q23.
http://purl.obolibrary.org/obo/DOID_0061035	autosomal dominant intellectual developmental disorder 62	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in caused by heterozygous mutation in the DLG4 gene on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0061036	autosomal dominant intellectual developmental disorder 63 with macrocephaly	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIO gene on chromosome 5p15.
http://purl.obolibrary.org/obo/DOID_0061037	autosomal dominant intellectual developmental disorder 64	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder characterized by mildly to severely impaired intellectual development (ID) with speech delays that has_material_basis_in heterozygous mutation in the ZNF292 gene on chromosome 6q14.
http://purl.obolibrary.org/obo/DOID_0061038	autosomal dominant intellectual developmental disorder 65	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder characterized by delayed motor and speech acquisition, variably impaired intellectual development, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KDM4B gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0061039	autosomal dominant intellectual developmental disorder 66	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder characterized by global developmental delay with mildly to moderately impaired intellectual development and mild speech delay that has_material_basis_in heterozygous mutation in the ATP2B1 gene on chromosome 12q21.
http://purl.obolibrary.org/obo/DOID_0061040	autosomal dominant intellectual developmental disorder 67	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood that has_material_basis_in heterozygous mutation in the GRIA1 gene on chromosome 5q33.
http://purl.obolibrary.org/obo/DOID_0061041	autosomal dominant intellectual developmental disorder 68	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder characterized by developmental delay/intellectual disability, primary autosomal recessive microcephaly, poor growth, feeding difficulties, and dysmorphic features that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0061042	autosomal dominant intellectual developmental disorder 69	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder characterized by developmental delay with variably impaired intellectual development that has_material_basis_in heterozygous mutation in the LMAN2L gene on chromosome 2q11.
http://purl.obolibrary.org/obo/DOID_0061043	autosomal dominant intellectual developmental disorder 70	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities that has_material_basis_in a specific heterozygous missense mutation (R1740Q) in the SETD2 gene on chromosome 3p21.
http://purl.obolibrary.org/obo/DOID_0061044	autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development that has_material_basis_in heterozygous mutation in the RFX7 gene on chromosome 15q21.
http://purl.obolibrary.org/obo/DOID_0061045	autosomal dominant intellectual developmental disorder 72	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features that has_material_basis_in heterozygous mutation in the SRRM2 gene on chromosome 16p13.
http://purl.obolibrary.org/obo/DOID_0061046	autosomal dominant intellectual developmental disorder 73	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder characterized by impaired intellectual development that ranges from mild to severe, speech delay, behavioral abnormalities, and nonspecific dysmorphic facial features that has_material_basis_in heterozygous mutation in the TAF4 gene on chromosome 20q13.
http://purl.obolibrary.org/obo/DOID_0061047	autosomal dominant intellectual developmental disorder 74	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder characterized by global developmental delay, including delay of gross and fine motor skills and speech delay, and variable subtle dysmorphic facial features that has_material_basis_in heterozygous mutation in the HNRNPC gene on chromosome 14q11.
http://purl.obolibrary.org/obo/DOID_0061048	autosomal dominant intellectual developmental disorder 75	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the DHX9 gene on chromosome 1q25.
http://purl.obolibrary.org/obo/DOID_0061049	autosomal dominant intellectual developmental disorder type FRA12A	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous expanded CGG repeat in the 5-prime untranslated region of the DIP2B gene on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0061050	autosomal dominant intellectual developmental disorder 60 with seizures	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life that has_material_basis_in heterozygous mutation in the AP2M1 gene on chromosome 3q27.
http://purl.obolibrary.org/obo/DOID_0061051	immunodeficiency 80	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that is characterized by variable manifestations and that has_material_basis_in compound heterozygous mutation in the MCM10 gene on chromosome 10p13.
http://purl.obolibrary.org/obo/DOID_0061052	immunodeficiency 81	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that is characterized by highly variable phenotype that may include both immunodeficiency with recurrent infections, including bacterial and fungal infections, as well as autoimmune features, including autoimmune hemolytic anemia, pancytopenia, thrombocytopenia, and inflammatory bowel disease and that has_material_basis_in homozygous or compound heterozygous mutation in the SLP76 gene on chromosome 5q33.
http://purl.obolibrary.org/obo/DOID_0061053	immunodeficiency 82	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that is characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease and and that has_material_basis_in heterozygous mutation in the SYK gene on chromosome 9q22.
http://purl.obolibrary.org/obo/DOID_0061054	immunodeficiency 84	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that is characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development and that has_material_basis_in heterozygous mutation in the IKZF3 gene on chromosome 17q12-q21.
http://purl.obolibrary.org/obo/DOID_0061055	immunodeficiency 85	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life that has_material_basis_in heterozygous mutation in the TOM1 gene on chromosome 22q12.
http://purl.obolibrary.org/obo/DOID_0061056	immunodeficiency 86	http://purl.obolibrary.org/obo/DOID_11200	T cell deficiency		A T cell deficiency that is characterized by susceptibility to mycobacterial disease after exposure to BCG vaccine and that has_material_basis_in homozygous mutation in the SPPL2A gene on chromosome 15q21.
http://purl.obolibrary.org/obo/DOID_0061057	immunodeficiency 87	http://purl.obolibrary.org/obo/DOID_11200	T cell deficiency		A primary immunodeficiency disease that is characterized by a wide phenotypic variation and severity and that has_material_basis_in homozygous mutation in the DEF6 gene on chromosome 6p21. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus, as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia.
http://purl.obolibrary.org/obo/DOID_0061058	immunodeficiency 88	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that is characterized by the development of disseminated mycobacterial disease following vaccination with BCG and that has_material_basis_in homozygous mutation in the TBX21 gene on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0061059	immunodeficiency 89	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that is characterized by adult onset of recurrent infections, allergies, microcytic anemia, and Crohn disease and that has_material_basis_in homozygous mutation in the CARD10 gene on chromosome 22q13.
http://purl.obolibrary.org/obo/DOID_0061060	immunodeficiency 90	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that is characterized by infancy or early childhood with recurrent fevers and bacterial or viral infections associated with central nervous system symptoms, including irritability, drowsiness, variable seizures, and white matter abnormalities on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the FADD gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0061061	immunodeficiency 91	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that is characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the ZNFX1 gene on chromosome 20q13.
http://purl.obolibrary.org/obo/DOID_0061062	immunodeficiency 92	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the REL gene on chromosome 2p16.
http://purl.obolibrary.org/obo/DOID_0061063	immunodeficiency 93	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that is characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life and that has_material_basis_in homozygous or compound heterozygous mutation in the FNIP1 gene on chromosome 5q31.
http://purl.obolibrary.org/obo/DOID_0061064	immunodeficiency 94	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that is characterized by lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features and that has_material_basis_in heterozygous gain-of-function mutation in the IL6ST gene on chromosome 5q11.
http://purl.obolibrary.org/obo/DOID_0061065	immunodeficiency 95	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that is characterized by the onset of recurrent and severe viral respiratory infections in infancy or early childhood and that has_material_basis_in homozygous loss-of-function mutation in the IFIH1 gene on chromosome 2q24.
http://purl.obolibrary.org/obo/DOID_0061066	immunodeficiency 96	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that is characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the LIG1 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0061067	immunodeficiency 97	http://purl.obolibrary.org/obo/DOID_0080710	T cell and NK cell immunodeficiency		A T cell and NK cell immunodeficiency that is characterized by variable features and and that has_material_basis_in compound heterozygous mutation in the PIK3CG gene on chromosome 7q22.
http://purl.obolibrary.org/obo/DOID_0061068	immunodeficiency 98	http://purl.obolibrary.org/obo/DOID_628	combined T cell and B cell immunodeficiency		A combined T cell and B cell immunodeficiency that is characterized by recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life and that has_material_basis_in hemizygous mutation in the TLR8 gene on chromosome Xp22.
http://purl.obolibrary.org/obo/DOID_0061069	immunodeficiency 99	http://purl.obolibrary.org/obo/DOID_628	combined T cell and B cell immunodeficiency		A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary infections in early childhood and that has_material_basis_in homozygous mutation in the CTNNBL1 gene on chromosome 20q11.
http://purl.obolibrary.org/obo/DOID_0061070	immunodeficiency 100	http://purl.obolibrary.org/obo/DOID_850	lung disease		A primary immunodeficiency disease that is characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis in the first months of life and that has_material_basis_in heterozygous mutation in the OAS1 gene on chromosome 12q24.
http://purl.obolibrary.org/obo/DOID_0061071	immunodeficiency 101	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that is characterized by reactivation of varicella zoster virus (VZV) infection in adulthood after primary childhood infection with VZV and that has_material_basis_in heterozygous mutation in the POLR3F gene on chromosome 20p11.
http://purl.obolibrary.org/obo/DOID_0061072	immunodeficiency 102	http://purl.obolibrary.org/obo/DOID_0080710	T cell and NK cell immunodeficiency		A T cell and NK cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias and that has_material_basis_in hemizygous mutation in the SASH3 gene on chromosome Xq26.
http://purl.obolibrary.org/obo/DOID_0061073	Perrault syndrome 7	http://purl.obolibrary.org/obo/DOID_0050857	Perrault syndrome		A Perrault syndrome that is characterized by sensorineural hearing loss and ovarian insufficiency in females and that has_material_basis_in compound heterozygous or homozygous mutation in the DAP3 gene on chromosome 1q22.
http://purl.obolibrary.org/obo/DOID_0061074	severe combined immunodeficiency 105	http://purl.obolibrary.org/obo/DOID_627	severe combined immunodeficiency		A severe combined immunodeficiency that is characterized by onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the PTPRC gene on chromosome 1q31.
http://purl.obolibrary.org/obo/DOID_0061075	immunodeficiency 106	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that is characterized by increased susceptibility to viral infections beginning in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR1 gene on chromosome 21q22.
http://purl.obolibrary.org/obo/DOID_0061076	immunodeficiency 107	http://purl.obolibrary.org/obo/DOID_850	lung disease		A primary immunodeficiency disease that is characterized by the development of invasive and severe life-threatening infections with S. aureus affecting the skin and/or lungs and that has_material_basis_in heterozygous mutation in the OTULIN gene on chromosome 5p15.
http://purl.obolibrary.org/obo/DOID_0061077	immunodeficiency 108	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that is characterized mainly by autoinflammation, often manifest as onset of recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers around adolescence and that has_material_basis_in homozygous mutation in the CEBPE gene on chromosome 14q11.
http://purl.obolibrary.org/obo/DOID_0061078	immunodeficiency 109	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that is characterized by onset of recurrent sinopulmonary infections in childhood and that has_material_basis_in homozygous mutation in the TNFRSF9 gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0061079	immunodeficiency 112	http://purl.obolibrary.org/obo/DOID_0111965	T cell, B cell, and NK cell deficiency		A T cell, B cell, and NK cell deficiency that is characterized by variable manifestations beginning in early childhood and that has_material_basis_in homozygous mutation in the MAP3K14 gene on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0061080	immunodeficiency 114	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that is characterized by the onset of oral ulcers and recurrent skin and respiratory infections in early infancy and that has_material_basis_in homozygous mutation in the SLC19A1 gene on chromosome 21q22.
http://purl.obolibrary.org/obo/DOID_0061081	immunodeficiency 115	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that is characterized by the onset of symptoms of immune dysregulation in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the RNF31 gene on chromosome 14q11.
http://purl.obolibrary.org/obo/DOID_0061082	immunodeficiency 116	http://purl.obolibrary.org/obo/DOID_11200	T cell deficiency		A T cell deficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the CD8-alpha gene on chromosome 2p12.
http://purl.obolibrary.org/obo/DOID_0061083	immunodeficiency 117	http://purl.obolibrary.org/obo/DOID_0080710	T cell and NK cell immunodeficiency		A T cell and NK cell immunodeficiency that is characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood and that has_material_basis_in homozygous mutation in the IRF1 gene on chromosome 5q31.
http://purl.obolibrary.org/obo/DOID_0061084	immunodeficiency 118	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that is characterized by increased susceptibility to the development of disseminated mycobacterial infections in infancy, notably after BCG vaccination and that has_material_basis_in hemizygous mutation in the MCTS1 gene on chromosome Xq24.
http://purl.obolibrary.org/obo/DOID_0061085	immunodeficiency 119	http://purl.obolibrary.org/obo/DOID_0111965	T cell, B cell, and NK cell deficiency		A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent upper and lower respiratory infections and warts in childhood and that has_material_basis_in homozygous mutation in the ICOSLG gene on chromosome 21q22. Affected individuals are susceptible to chronic DNA-based viral infections, including HPV and HSV.
http://purl.obolibrary.org/obo/DOID_0061086	immunodeficiency 120	http://purl.obolibrary.org/obo/DOID_628	combined T cell and B cell immunodeficiency		A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the POLD1 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0061087	immunodeficiency 121	http://purl.obolibrary.org/obo/DOID_627	severe combined immunodeficiency		A severe combined immunodeficiency that is characterized by T-, B-, NK+/- severe combined immunodeficiency associated with failure to thrive, erythrodermia, diarrhea, and alopecia and that has_material_basis_in heterozygous mutation in the PSMB10 gene on chromosome 16q22.
http://purl.obolibrary.org/obo/DOID_0061088	immunodeficiency 122	http://purl.obolibrary.org/obo/DOID_0111965	T cell, B cell, and NK cell deficiency		A T cell, B cell, and NK cell deficiency that is characterized by early-infantile onset of recurrent viral and bacterial infections of the respiratory tract and skin and that has_material_basis_in homozygous mutation in the POLD3 gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0061089	immunodeficiency 123	http://purl.obolibrary.org/obo/DOID_11200	T cell deficiency		A T cell deficiency that is characterized by the onset of HPV-related common cutaneous warts in the first decade of life and that has_material_basis_in homozygous mutation in the CD28 gene on chromosome 2q33.
http://purl.obolibrary.org/obo/DOID_0061090	severe combined immunodeficiency 124	http://purl.obolibrary.org/obo/DOID_627	severe combined immunodeficiency		A severe combined immunodeficiency that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the NHEJ1 gene on chromosome 2q35.
http://purl.obolibrary.org/obo/DOID_0061091	immunodeficiency 125	http://purl.obolibrary.org/obo/DOID_2115	B cell deficiency		A B cell deficiency that is characterized by recurrent diarrhea and failure to thrive beginning in infancy followed by recurrent bacterial, viral, and fungal infections and that has_material_basis_in homozygous mutation in the FLT3LG gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0061092	immunodeficiency 127	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that is characterized by increased susceptibility to recurrent pulmonary infection with Mycobacterium tuberculosis and that has_material_basis_in homozygous mutation in the TNF gene on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0061093	immunodeficiency 128	http://purl.obolibrary.org/obo/DOID_0111965	T cell, B cell, and NK cell deficiency		A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent bacterial and viral infections in the first year of life and that has_material_basis_in homozygous mutation in the COPG1 gene on chromosome 3q21.
http://purl.obolibrary.org/obo/DOID_0061094	immunodeficiency 129	http://purl.obolibrary.org/obo/DOID_11200	T cell deficiency		A T cell deficiency that is characterized by recurrent bacterial, viral, and fungal infections beginning in the first or second decades of life and that has_material_basis_in homozygous mutation in the RHOH gene on chromosome 4p14.
http://purl.obolibrary.org/obo/DOID_0061096	immunodeficiency 133	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that is characterized immunodeficiency manifest as combined immunodeficiency (CID) or common variable immunodeficiency (CVID) and features of ectodermal dysplasia, notably dysmorphic conical incisors and sparse hair, and that has_material_basis_in heterozygous mutation in the ITPR3 gene on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0061097	immunodeficiency 132B	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that is characterized by recurrent upper and lower respiratory infections caused by various pathogens beginning in childhood, B-cell lymphoid hyperplasia, and dysregulation of T-cell subsets and function and that has_material_basis_in heterozygous loss-of-function mutation in the TRAF3 gene on chromosome 14q32.
http://purl.obolibrary.org/obo/DOID_0061098	Carpenter syndrome 1	http://purl.obolibrary.org/obo/DOID_0060234	Carpenter syndrome		A Carpenter syndrome that has_material_basis_in homozygous mutation in the RAB23 gene on chromosome 6p11.
http://purl.obolibrary.org/obo/DOID_0061099	Carpenter syndrome 2	http://purl.obolibrary.org/obo/DOID_0060234	Carpenter syndrome		A Carpenter syndrome characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF8 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0061100	autosomal dominant primary microcephaly	http://purl.obolibrary.org/obo/DOID_0070297	primary microcephaly		A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal dominant mutation.
http://purl.obolibrary.org/obo/DOID_0061101	immunodeficiency 132A	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that is characterized by increased susceptibility to infection with certain pathogens and that has_material_basis_in heterozygous dominant-negative mutation in the TRAF3 gene on chromosome 14q32.
http://purl.obolibrary.org/obo/DOID_0061102	hypertrophic cardiomyopathy 27	http://purl.obolibrary.org/obo/DOID_0080326	familial hypertrophic cardiomyopathy		A familial hypertrophic cardiomyopathy characterized by biventricular involvement and atypical distribution of hypertrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ALPK3 gene on chromosome 15q25.
http://purl.obolibrary.org/obo/DOID_0061169	autosomal dominant autoinflammation, panniculitis, and dermatosis syndrome	http://purl.obolibrary.org/obo/DOID_0061170	autoinflammation, panniculitis, and dermatosis syndrome		An autoinflammation, panniculitis, and dermatosis syndrome characterized by the onset of autoinflammatory features in infancy, including fever, aseptic skin lesions, panniculitis, and poor wound healing that has_material_basis_in heterozygous dominant-negative mutation in the OTULIN gene on chromosome 5p15.
http://purl.obolibrary.org/obo/TRANS_0000013	vehicle-borne medical transmission	http://purl.obolibrary.org/obo/TRANS_0000010	vehicle-borne transmission		Vehicle-borne medical transmission is an indirect vehicle-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by biological products including: blood, serum, plasma, tissue, or organs.
http://purl.obolibrary.org/obo/SYMP_0000413	catatonia	http://purl.obolibrary.org/obo/SYMP_0000410	neurological and physiological symptom		A neurological and physiological symptom that is characterized by a marked psychomotor disturbance that may involve stupor or mutism, negativism, rigidity, purposeless excitement, echolalia, echopraxia, and inappropriate or bizarre posturing and is associated with various medical conditions (as schizophrenia and mood disorders).
http://purl.obolibrary.org/obo/SYMP_0000606	nocturnal enuresis	http://purl.obolibrary.org/obo/SYMP_0000492	urinary incontinence		A urinary incontinence that is characterized by involuntary urination at night in children five years of age or older.
http://purl.obolibrary.org/obo/SYMP_0000508	aphasia	http://purl.obolibrary.org/obo/SYMP_0000480	nervous system symptom		A nervous system symptom that is characterized by a loss or impairment of the power to use or comprehend words usually resulting from brain damage.
http://purl.obolibrary.org/obo/SYMP_0000374	scrotal abscess	http://purl.obolibrary.org/obo/SYMP_0000196	reproductive system symptom		A reproductive system symptom that is characterized by an abscess that is either superficial or intrascrotal.  Superficial scrotal abscess may occur from an infected hair follicle, infection of a scrotal laceration, or minor scrotal surgery.  Intrascrotal abscess most commonly arises from bacterial epididymitis, but may also be related to tuberculous infection of the epididymis, a testicular abscess that ruptures through the tunica albuginea, or drainage of appendicitis into scrotum through a patent processus vaginalis or as a result of extravasation of infected urine from the urethra in patients with a urethral stricture and neurogenic bladder using an external collection device.
http://purl.obolibrary.org/obo/SYMP_0000423	pyrosis	http://purl.obolibrary.org/obo/SYMP_0000459	digestive system symptom		From synonym: Heartburn is a pain characterized by a painful burning feeling in your chest or throat that happens when stomach acid backs up into your esophagus.
http://purl.obolibrary.org/obo/SYMP_0000214	anomia	http://purl.obolibrary.org/obo/SYMP_0000508	aphasia		An aphasia that is characterized by a severe problem with recalling words or names.
http://purl.obolibrary.org/obo/SYMP_0000857	objective vertigo	http://purl.obolibrary.org/obo/SYMP_0000399	vertigo		A vertigo that is characterized by a sensation that the external world is revolving.
http://purl.obolibrary.org/obo/DOID_0080173	bladder exstrophy-epispadias-cloacal exstrophy complex	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		A physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract.
http://purl.obolibrary.org/obo/DOID_0110657	congenital myasthenic syndrome 8	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p.
http://purl.obolibrary.org/obo/DOID_0110658	congenital myasthenic syndrome 15	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21.
http://purl.obolibrary.org/obo/DOID_0110659	congenital myasthenic syndrome 7	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32.
http://purl.obolibrary.org/obo/DOID_0110660	congenital myasthenic syndrome 12	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13.
http://purl.obolibrary.org/obo/DOID_0110661	congenital myasthenic syndrome 20	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12.
http://purl.obolibrary.org/obo/DOID_0110662	congenital myasthenic syndrome 1B	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q.
http://purl.obolibrary.org/obo/DOID_0110663	congenital myasthenic syndrome 1A	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q.
http://purl.obolibrary.org/obo/DOID_0110664	congenital myasthenic syndrome 3C	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37.
http://purl.obolibrary.org/obo/DOID_0110665	congenital myasthenic syndrome 3B	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.
http://purl.obolibrary.org/obo/DOID_0110666	congenital myasthenic syndrome 3A	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37.
http://purl.obolibrary.org/obo/DOID_0110667	congenital myasthenic syndrome 5	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25.
http://purl.obolibrary.org/obo/DOID_0110668	congenital myasthenic syndrome 10	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.
http://purl.obolibrary.org/obo/DOID_0110669	congenital myasthenic syndrome 14	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22.
http://purl.obolibrary.org/obo/DOID_0110670	congenital myasthenic syndrome 9	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.
http://purl.obolibrary.org/obo/DOID_0110671	congenital myasthenic syndrome 6	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q.
http://purl.obolibrary.org/obo/DOID_0110672	congenital myasthenic syndrome 21	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11.
http://purl.obolibrary.org/obo/DOID_0110673	congenital myasthenic syndrome 19	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22.
http://purl.obolibrary.org/obo/DOID_0110674	congenital myasthenic syndrome 17	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11.
http://purl.obolibrary.org/obo/DOID_0110675	congenital myasthenic syndrome 11	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of Acetylcholine Receptor (AChR) at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.
http://purl.obolibrary.org/obo/DOID_0110676	congenital myasthenic syndrome 13	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23.
http://purl.obolibrary.org/obo/DOID_0110677	congenital myasthenic syndrome 4B	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0110678	congenital myasthenic syndrome 4A	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0110679	congenital myasthenic syndrome 4C	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0110680	congenital myasthenic syndrome 2C	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in compound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0110681	congenital myasthenic syndrome 2A	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0110682	congenital myasthenic syndrome 16	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23.
http://purl.obolibrary.org/obo/DOID_0110683	congenital myasthenic syndrome 18	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11.
http://purl.obolibrary.org/obo/DOID_0110698	hypotrichosis 1	http://purl.obolibrary.org/obo/DOID_4535	hypotrichosis		A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the APCDD1 gene on chromosome 18p11.22.
http://purl.obolibrary.org/obo/DOID_0110699	hypotrichosis 2	http://purl.obolibrary.org/obo/DOID_4535	hypotrichosis		A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the CDSN gene on chromosome 6p21.33.
http://purl.obolibrary.org/obo/DOID_0110700	hypotrichosis 3	http://purl.obolibrary.org/obo/DOID_4535	hypotrichosis		A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT74 gene on chromosome 12q13.13.
http://purl.obolibrary.org/obo/DOID_0110701	hypotrichosis 4	http://purl.obolibrary.org/obo/DOID_4535	hypotrichosis		A hypotrichosis that has_material_basis_in a autosomal dominant mutation of HR on chromosome 8p21.3.
http://purl.obolibrary.org/obo/DOID_0110702	hypotrichosis 5	http://purl.obolibrary.org/obo/DOID_4535	hypotrichosis		A hypotrichosis that has_material_basis_in a mutation on chromosome 1p21.1-q21.3.
http://purl.obolibrary.org/obo/DOID_0110703	hypotrichosis 6	http://purl.obolibrary.org/obo/DOID_4535	hypotrichosis		A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the DSG4 gene on chromosome 18q12.1.
http://purl.obolibrary.org/obo/DOID_0110704	hypotrichosis 7	http://purl.obolibrary.org/obo/DOID_4535	hypotrichosis		A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the LIPH gene on chromosome 3q27.2.
http://purl.obolibrary.org/obo/DOID_0110705	hypotrichosis 8	http://purl.obolibrary.org/obo/DOID_4535	hypotrichosis		A hypotrichosis has_material_basis_in a autosomal recessive mutation of the LPAR6 gene on chromosome 13q14.2.
http://purl.obolibrary.org/obo/DOID_0110706	hypotrichosis 9	http://purl.obolibrary.org/obo/DOID_4535	hypotrichosis		A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 10q11.23-q22.3.
http://purl.obolibrary.org/obo/DOID_0110707	hypotrichosis 10	http://purl.obolibrary.org/obo/DOID_4535	hypotrichosis		A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 7p22.3-p21.3.
http://purl.obolibrary.org/obo/DOID_0110708	hypotrichosis 11	http://purl.obolibrary.org/obo/DOID_4535	hypotrichosis		A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the SNRPE gene on chromosome 1q32.1.
http://purl.obolibrary.org/obo/DOID_0110709	hypotrichosis 12	http://purl.obolibrary.org/obo/DOID_4535	hypotrichosis		A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the RPL21 gene on chromosome 13q12.2.
http://purl.obolibrary.org/obo/DOID_0110710	hypotrichosis 13	http://purl.obolibrary.org/obo/DOID_4535	hypotrichosis		A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT71 gene on chromosome 12q13.13.
http://purl.obolibrary.org/obo/DOID_0110711	congenital hypotrichosis with juvenile macular dystrophy	http://purl.obolibrary.org/obo/DOID_4535	hypotrichosis		A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the CDH3 gene on chromosome 16q22.1.
http://purl.obolibrary.org/obo/DOID_0110714	congenital stationary night blindness 1G	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the GNAT1 gene on chromosome 3p21.
http://purl.obolibrary.org/obo/DOID_0110715	congenital stationary night blindness autosomal dominant 3	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the GNAT1 gene on chromosome 3p21.
http://purl.obolibrary.org/obo/DOID_0110862	congenital stationary night blindness autosomal dominant 1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1.
http://purl.obolibrary.org/obo/DOID_0110863	congenital stationary night blindness autosomal dominant 2	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16.
http://purl.obolibrary.org/obo/DOID_0110864	congenital stationary night blindness 1F	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the LRIT3 gene on chromosome 4q25.
http://purl.obolibrary.org/obo/DOID_0110865	congenital stationary night blindness 1B	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in mutation in the GRM6 gene on chromosome 5q35.
http://purl.obolibrary.org/obo/DOID_0110866	congenital stationary night blindness 1H	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13.
http://purl.obolibrary.org/obo/DOID_0110867	congenital stationary night blindness 1C	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14.
http://purl.obolibrary.org/obo/DOID_0110868	congenital stationary night blindness 1D	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital stationary night blindness characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves) that has_material_basis_in homozygous or compound heterozygous mutation in the SLC24A1 gene on chromosome 15q22.
http://purl.obolibrary.org/obo/DOID_0110869	congenital stationary night blindness 1E	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12.
http://purl.obolibrary.org/obo/DOID_0110870	congenital stationary night blindness 1A	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4.
http://purl.obolibrary.org/obo/DOID_0110871	congenital stationary night blindness 2A	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23.
http://purl.obolibrary.org/obo/DOID_0110872	holoprosencephaly 2	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21.
http://purl.obolibrary.org/obo/DOID_0110873	holoprosencephaly 9	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14.
http://purl.obolibrary.org/obo/DOID_0110874	holoprosencephaly 6	http://purl.obolibrary.org/obo/DOID_4621	holoprosencephaly		A holoprosencephaly that has_material_basis_in variation in the chromosome region 2q37.1-q37.3.
http://purl.obolibrary.org/obo/DOID_0110875	holoprosencephaly 3	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A holoprosencephaly that has_material_basis_in heterozygous mutation in the SHH gene on chromosome 7q36.
http://purl.obolibrary.org/obo/DOID_0110876	holoprosencephaly 7	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22.
http://purl.obolibrary.org/obo/DOID_0110877	holoprosencephaly 11	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A holoprosencephaly that has_material_basis_in heterozygous mutation in the CDON gene on chromosome 11q24.
http://purl.obolibrary.org/obo/DOID_0110878	holoprosencephaly 5	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A holoprosencephaly that has_material_basis_in heterozygous mutation in the ZIC2 gene on chromosome 13q32.
http://purl.obolibrary.org/obo/DOID_0110879	holoprosencephaly 8	http://purl.obolibrary.org/obo/DOID_4621	holoprosencephaly		A holoprosencephaly that has_material_basis_in variation in the chromosome region 14q13.
http://purl.obolibrary.org/obo/DOID_0110880	holoprosencephaly 4	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A holoprosencephaly that has_material_basis_in heterozygous mutation in the TGIF gene on chromosome 18p11.
http://purl.obolibrary.org/obo/DOID_0110881	holoprosencephaly 1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A holoprosencephaly that has_material_basis_in variation in the chromosome region 21q22.3.
http://purl.obolibrary.org/obo/DOID_0110882	inflammatory bowel disease 7	http://purl.obolibrary.org/obo/DOID_0050589	inflammatory bowel disease		An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1p36.
http://purl.obolibrary.org/obo/DOID_0110883	inflammatory bowel disease 17	http://purl.obolibrary.org/obo/DOID_0050589	inflammatory bowel disease		An inflammatory bowel disease that has_material_basis_in variation in the IL23R gene on chromosome 1p31.3.
http://purl.obolibrary.org/obo/DOID_0110884	inflammatory bowel disease 23	http://purl.obolibrary.org/obo/DOID_0050589	inflammatory bowel disease		An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1q32.1.
http://purl.obolibrary.org/obo/DOID_0110885	inflammatory bowel disease 10	http://purl.obolibrary.org/obo/DOID_0050589	inflammatory bowel disease		An inflammatory bowel disease that has_material_basis_in variation in the ATG16L1 gene on chromosome 2q37.
http://purl.obolibrary.org/obo/DOID_0110886	inflammatory bowel disease 9	http://purl.obolibrary.org/obo/DOID_0050589	inflammatory bowel disease		An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p26.
http://purl.obolibrary.org/obo/DOID_0110887	inflammatory bowel disease 12	http://purl.obolibrary.org/obo/DOID_0050589	inflammatory bowel disease		An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p21.3.
http://purl.obolibrary.org/obo/DOID_0110888	inflammatory bowel disease 18	http://purl.obolibrary.org/obo/DOID_0050589	inflammatory bowel disease		An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5p13.1.
http://purl.obolibrary.org/obo/DOID_0110889	inflammatory bowel disease 5	http://purl.obolibrary.org/obo/DOID_0050589	inflammatory bowel disease		An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q31.
http://purl.obolibrary.org/obo/DOID_0110890	inflammatory bowel disease 19	http://purl.obolibrary.org/obo/DOID_0050589	inflammatory bowel disease		An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q33.1.
http://purl.obolibrary.org/obo/DOID_0110891	inflammatory bowel disease 3	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 6p21.3.
http://purl.obolibrary.org/obo/DOID_0110892	inflammatory bowel disease 1	http://purl.obolibrary.org/obo/DOID_0050589	inflammatory bowel disease		An inflammatory bowel disease that has_material_basis_in mutations in the NOD2 gene on chromosome 16q12.1.
http://purl.obolibrary.org/obo/DOID_0110893	inflammatory bowel disease 13	http://purl.obolibrary.org/obo/DOID_0050589	inflammatory bowel disease		An inflammatory bowel disease that has_material_basis_in variation in the ABCB1 gene on chromosome 7q21.1.
http://purl.obolibrary.org/obo/DOID_0110894	inflammatory bowel disease 11	http://purl.obolibrary.org/obo/DOID_0050589	inflammatory bowel disease		An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 7q22.
http://purl.obolibrary.org/obo/DOID_0110895	inflammatory bowel disease 14	http://purl.obolibrary.org/obo/DOID_0050589	inflammatory bowel disease		An inflammatory bowel disease that has_material_basis_in variation in the IRF5 gene on chromosome 7q32.
http://purl.obolibrary.org/obo/DOID_0110896	inflammatory bowel disease 16	http://purl.obolibrary.org/obo/DOID_0050589	inflammatory bowel disease		An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 9q32.
http://purl.obolibrary.org/obo/DOID_0110897	inflammatory bowel disease 15	http://purl.obolibrary.org/obo/DOID_0050589	inflammatory bowel disease		An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q21.
http://purl.obolibrary.org/obo/DOID_0110898	inflammatory bowel disease 20	http://purl.obolibrary.org/obo/DOID_0050589	inflammatory bowel disease		An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q23-q24.
http://purl.obolibrary.org/obo/DOID_0110899	inflammatory bowel disease 28	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the IL10RA gene on chromosome 11q23.
http://purl.obolibrary.org/obo/DOID_0110900	inflammatory bowel disease 2	http://purl.obolibrary.org/obo/DOID_0050589	inflammatory bowel disease		An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12p13.2-q24.1.
http://purl.obolibrary.org/obo/DOID_0110901	inflammatory bowel disease 26	http://purl.obolibrary.org/obo/DOID_0050589	inflammatory bowel disease		An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12q15.
http://purl.obolibrary.org/obo/DOID_0110902	inflammatory bowel disease 27	http://purl.obolibrary.org/obo/DOID_0050589	inflammatory bowel disease		An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 13q13.3.
http://purl.obolibrary.org/obo/DOID_0110903	inflammatory bowel disease 4	http://purl.obolibrary.org/obo/DOID_0050589	inflammatory bowel disease		An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 14q11-q12.
http://purl.obolibrary.org/obo/DOID_0110904	inflammatory bowel disease 8	http://purl.obolibrary.org/obo/DOID_0050589	inflammatory bowel disease		An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 16p.
http://purl.obolibrary.org/obo/DOID_0110905	inflammatory bowel disease 22	http://purl.obolibrary.org/obo/DOID_0050589	inflammatory bowel disease		An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 17q21.2.
http://purl.obolibrary.org/obo/DOID_0110906	inflammatory bowel disease 21	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 18p11.
http://purl.obolibrary.org/obo/DOID_0110907	inflammatory bowel disease 6	http://purl.obolibrary.org/obo/DOID_0050589	inflammatory bowel disease		An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 19p13.
http://purl.obolibrary.org/obo/DOID_0110908	inflammatory bowel disease 24	http://purl.obolibrary.org/obo/DOID_0050589	inflammatory bowel disease		An inflammatory bowel disease that has_material_basis_in variation in the chromosome 20q13.
http://purl.obolibrary.org/obo/DOID_0110909	inflammatory bowel disease 25	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the IL10RB gene on chromosome 21q22.
http://purl.obolibrary.org/obo/DOID_0110913	adult hypophosphatasia	http://purl.obolibrary.org/obo/DOID_14213	hypophosphatasia		A hypophosphatasia that has_material_basis_in a heterozygous or compound heterozygous mutation of the ALPL gene on chromosome 1p36.12.
http://purl.obolibrary.org/obo/DOID_0110914	infantile hypophosphatasia	http://purl.obolibrary.org/obo/DOID_14213	hypophosphatasia		A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0110915	childhood hypophosphatasia	http://purl.obolibrary.org/obo/DOID_14213	hypophosphatasia		A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of the ALPL gene on chromosome 1p36.12.
http://purl.obolibrary.org/obo/DOID_0110916	hereditary spherocytosis type 1	http://purl.obolibrary.org/obo/DOID_12971	hereditary spherocytosis		A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the ANK1 gene on chromosome 8p11.21.
http://purl.obolibrary.org/obo/DOID_0110917	hereditary spherocytosis type 2	http://purl.obolibrary.org/obo/DOID_12971	hereditary spherocytosis		A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTB gene on chromosome 14q23.3.
http://purl.obolibrary.org/obo/DOID_0110918	hereditary spherocytosis type 3	http://purl.obolibrary.org/obo/DOID_12971	hereditary spherocytosis		A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTA1 gene on chromosome 1q23.1.
http://purl.obolibrary.org/obo/DOID_0110919	hereditary spherocytosis type 4	http://purl.obolibrary.org/obo/DOID_12971	hereditary spherocytosis		A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SLC4A1 gene on chromosome 17q21.31.
http://purl.obolibrary.org/obo/DOID_0110920	hereditary spherocytosis type 5	http://purl.obolibrary.org/obo/DOID_12971	hereditary spherocytosis		A hereditary spherocytosis that has_material_basis_in a mutation of the EPB42 gene on chromosome 15q15.2.
http://purl.obolibrary.org/obo/DOID_0110921	familial hemophagocytic lymphohistiocytosis 1	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the HPLH1 gene on chromosome 9q21.3-q22.
http://purl.obolibrary.org/obo/DOID_0110922	familial hemophagocytic lymphohistiocytosis 2	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the PRF1 gene on chromosome 10q22.1.
http://purl.obolibrary.org/obo/DOID_0110923	familial hemophagocytic lymphohistiocytosis 3	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the UNC13D gene on chromosome 17q25.1.
http://purl.obolibrary.org/obo/DOID_0110924	familial hemophagocytic lymphohistiocytosis 4	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the STX11 gene on chromosome 6q24.2.
http://purl.obolibrary.org/obo/DOID_0110925	familial hemophagocytic lymphohistiocytosis 5	http://purl.obolibrary.org/obo/DOID_0050177	monogenic disease		A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the STXBP2 gene on chromosome 19p13.2.
http://purl.obolibrary.org/obo/CHEBI_138015	endocrine disruptor	http://purl.obolibrary.org/obo/DISDRIV_0000006	chemical driver		Any compound that can disrupt the functions of the endocrine (hormone) system.
http://purl.obolibrary.org/obo/NCIT_C391	Copper	http://purl.obolibrary.org/obo/CHEBI_33284	nutrient		An element with atomic symbol Cu, atomic number 29, and atomic weight 63.
http://purl.obolibrary.org/obo/DOID_0080354	Phelan-McDermid syndrome	http://purl.obolibrary.org/obo/DOID_0060388	chromosomal deletion syndrome		A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development.
http://purl.obolibrary.org/obo/DOID_0080355	hepatobiliary system cancer	http://purl.obolibrary.org/obo/DOID_3119	gastrointestinal system cancer		A gastrointestinal system cancer that is located_in the hepatobiliary system.
http://purl.obolibrary.org/obo/DOID_0080356	IgG4-related disease	http://purl.obolibrary.org/obo/DOID_417	autoimmune disease		An autoimmune disease that is characterized by tumefactive lesions, a dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis, obliterative phlebitis, autoimmune pancreatitis, and sometimes elevated serum IgG4 levels affecting various organs.
http://purl.obolibrary.org/obo/DOID_0080357	mitochondrial complex IV deficiency nuclear type 2	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13.
http://purl.obolibrary.org/obo/DOID_0080358	mitochondrial complex IV deficiency nuclear type 6	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24.
http://purl.obolibrary.org/obo/DOID_0080359	mitochondrial complex IV deficiency nuclear type 9	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11.
http://purl.obolibrary.org/obo/DOID_0080360	mitochondrial complex IV deficiency nuclear type 13	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42.
http://purl.obolibrary.org/obo/DOID_0080361	trimethylaminuria	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		An inherited metabolic disorder characterized by the inability to break down trimethylamine and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 on chromosome 1q24.
http://purl.obolibrary.org/obo/DOID_0080362	X-linked spondyloepiphyseal dysplasia tarda	http://purl.obolibrary.org/obo/DOID_0112284	spondyloepiphyseal dysplasia tarda		A spondyloepiphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22.
http://purl.obolibrary.org/obo/DOID_0080363	mitochondrial pyruvate carrier deficiency	http://purl.obolibrary.org/obo/DOID_700	mitochondrial metabolism disease		A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27.
http://purl.obolibrary.org/obo/DOID_0080365	endometrial hyperplasia	http://purl.obolibrary.org/obo/DOID_0060095	uterine benign neoplasm		An uterine benign neoplasm that is characterized by excessive proliferation of the cells of the endometrium.
http://purl.obolibrary.org/obo/DOID_0080366	desmoid tumor	http://purl.obolibrary.org/obo/DOID_0060123	connective tissue benign neoplasm		A connective tissue benign neoplasm that occur most often in the abdomen, arms and legs.
http://purl.obolibrary.org/obo/DOID_0080367	chronic eosinophilic leukemia	http://purl.obolibrary.org/obo/DOID_1036	chronic leukemia		A chronic leukemia characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues.
http://purl.obolibrary.org/obo/DOID_0080368	sex cord-stromal benign neoplasm	http://purl.obolibrary.org/obo/DOID_0050622	reproductive organ benign neoplasm		A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts.
http://purl.obolibrary.org/obo/DOID_0080369	ovarian sex-cord stromal tumor	http://purl.obolibrary.org/obo/DOID_192	sex cord-gonadal stromal tumor		A sex cord-gonadal stromal tumor that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts.
http://purl.obolibrary.org/obo/DOID_0080370	ovarian sex cord-stromal benign neoplasm	http://purl.obolibrary.org/obo/DOID_0080368	sex cord-stromal benign neoplasm		A sex cord-stromal benign neoplasm that arises from the ovary.
http://purl.obolibrary.org/obo/DOID_0080371	testicular sex cord-stromal benign neoplasm	http://purl.obolibrary.org/obo/DOID_0080368	sex cord-stromal benign neoplasm		A sex cord-stromal benign neoplasm that arises from the testis.
http://purl.obolibrary.org/obo/DOID_0080372	epithelioid inflammatory myofibroblastic sarcoma	http://purl.obolibrary.org/obo/DOID_0050905	inflammatory myofibroblastic tumor		An inflammatory myofibroblastic tumor composed of epithelioid or round cells with a characteristic perinuclear or nuclear membrane staining pattern with ALK immunohistochemistry, frequently dispersed in myxoid stroma with prominent neutrophils or lymphocytes, and often absence of plasma cells.
http://purl.obolibrary.org/obo/DOID_0080373	epididymis disease	http://purl.obolibrary.org/obo/DOID_48	male reproductive system disease		A male reproductive system disease that is located_in the epididymis.
http://purl.obolibrary.org/obo/DOID_0080597	Kleefstra syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone.
http://purl.obolibrary.org/obo/DOID_0080598	Kleefstra syndrome 2	http://purl.obolibrary.org/obo/DOID_0080597	Kleefstra syndrome		A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36.
http://purl.obolibrary.org/obo/DOID_0080600	COVID-19	http://purl.obolibrary.org/obo/DOID_0080599	Coronavirus infectious disease		A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.
http://purl.obolibrary.org/obo/DOID_0080601	germ cell benign neoplasm	http://purl.obolibrary.org/obo/DOID_0060084	cell type benign neoplasm		A benign neoplasm that derives_from germ cells.
http://purl.obolibrary.org/obo/DOID_0111593	distal arthrogryposis type 10	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A distal arthrogryposis that has_material_basis_in heterozygous mutation in the chromosome region 2q31.3-q32.1.
http://purl.obolibrary.org/obo/DOID_0111594	distal arthrogryposis type 5D	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q37.1.
http://purl.obolibrary.org/obo/DOID_0111595	congenital contractural arachnodactyly	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the FBN2 gene on chromosome 5q23.3.
http://purl.obolibrary.org/obo/DOID_0111596	distal arthrogryposis type 1	http://purl.obolibrary.org/obo/DOID_0050646	distal arthrogryposis		A distal arthrogryposis characterized by autosomal domiant inheritance of contractures of the distal regions of the hands and feet with no facial involvement or other anomalies.
http://purl.obolibrary.org/obo/DOID_0111597	distal arthrogryposis type 1A	http://purl.obolibrary.org/obo/DOID_0111596	distal arthrogryposis type 1		A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.3.
http://purl.obolibrary.org/obo/DOID_0111598	distal arthrogryposis type 1B	http://purl.obolibrary.org/obo/DOID_0111596	distal arthrogryposis type 1		A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23.2.
http://purl.obolibrary.org/obo/DOID_0111599	distal arthrogryposis type 2B	http://purl.obolibrary.org/obo/DOID_0050646	distal arthrogryposis		A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.
http://purl.obolibrary.org/obo/DOID_0111600	distal arthrogryposis type 2B1	http://purl.obolibrary.org/obo/DOID_0111599	distal arthrogryposis type 2B		A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNI2 gene on chromosome 11p15.5.
http://purl.obolibrary.org/obo/DOID_0111601	distal arthrogryposis type 2B2	http://purl.obolibrary.org/obo/DOID_0111599	distal arthrogryposis type 2B		A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNT3 gene on chromosome 11p15.5.
http://purl.obolibrary.org/obo/DOID_0111602	distal arthrogryposis type 2B3	http://purl.obolibrary.org/obo/DOID_0111599	distal arthrogryposis type 2B		A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1.
http://purl.obolibrary.org/obo/DOID_0111603	distal arthrogryposis type 7	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in the MYH8 gene on chromosome 17p13.1.
http://purl.obolibrary.org/obo/DOID_0111604	Freeman-Sheldon syndrome	http://purl.obolibrary.org/obo/DOID_0050646	distal arthrogryposis		A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures.
http://purl.obolibrary.org/obo/DOID_0111605	distal arthrogryposis type 2A	http://purl.obolibrary.org/obo/DOID_0111604	Freeman-Sheldon syndrome		A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1.
http://purl.obolibrary.org/obo/DOID_0111606	autosomal recessive Whistling face syndrome	http://purl.obolibrary.org/obo/DOID_0111604	Freeman-Sheldon syndrome		A Freeman-Sheldon syndrome that has autosomal recessive inheritance.
http://purl.obolibrary.org/obo/DOID_0111607	distal arthrogryposis type 3	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21.
http://purl.obolibrary.org/obo/DOID_0111608	distal arthrogryposis type 5	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21.
http://purl.obolibrary.org/obo/DOID_0111609	distal arthrogryposis type 6	http://purl.obolibrary.org/obo/DOID_0050646	distal arthrogryposis		A distal arthrogryposis characterized by distal arthrogryposis with sensorineural deafness.
http://purl.obolibrary.org/obo/DOID_0111610	distal arthrogryposis type 4	http://purl.obolibrary.org/obo/DOID_0050646	distal arthrogryposis		A distal arthrogryposis characterized by distal arthrogryposis with severe scoliosis.
http://purl.obolibrary.org/obo/DOID_0111611	autosomal recessive spinocerebellar ataxia 4	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13D gene on chromosome 1p36.22-p36.21.
http://purl.obolibrary.org/obo/DOID_0111613	autosomal recessive spinocerebellar ataxia 23	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the TDP2 gene on chromosome 6p22.3.
http://purl.obolibrary.org/obo/DOID_0111614	autosomal recessive spinocerebellar ataxia 22	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the VWA3B gene on chromosome 2q11.2.
http://purl.obolibrary.org/obo/DOID_0111615	autosomal recessive spinocerebellar ataxia 24	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.1.
http://purl.obolibrary.org/obo/DOID_0111616	autosomal recessive spinocerebellar ataxia 27	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP2 gene on chromosome 1p12.
http://purl.obolibrary.org/obo/DOID_0111617	autosomal recessive spinocerebellar ataxia 6	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13.
http://purl.obolibrary.org/obo/DOID_0111618	autosomal recessive spinocerebellar ataxia 8	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2.
http://purl.obolibrary.org/obo/DOID_0111619	combined D-2- and L-2-hydroxyglutaric aciduria	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A1 gene on chromosome 22q11.21.
http://purl.obolibrary.org/obo/DOID_0111620	corneal dystrophy-perceptive deafness syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene on chromosome 20p13.
http://purl.obolibrary.org/obo/DOID_0111621	Temtamy syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31.
http://purl.obolibrary.org/obo/DOID_0111622	ACTH-independent macronodular adrenal hyperplasia	http://purl.obolibrary.org/obo/DOID_446	primary hyperaldosteronism		A primary hyperaldosteronism characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal gland and production of an excess of cortisol.
http://purl.obolibrary.org/obo/DOID_0111623	ACTH-independent macronodular adrenal hyperplasia 1	http://purl.obolibrary.org/obo/DOID_0111622	ACTH-independent macronodular adrenal hyperplasia		An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32.
http://purl.obolibrary.org/obo/DOID_0111624	ACTH-independent macronodular adrenal hyperplasia 2	http://purl.obolibrary.org/obo/DOID_0111622	ACTH-independent macronodular adrenal hyperplasia		An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in a combination of autosomal dominant and second hit somatic mutation in the ARMC5 gene on chromosome 16p11.2.
http://purl.obolibrary.org/obo/DOID_0111625	ventriculomegaly - cystic kidney disease	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts that has_material_basis_in homozygous or compound heterozygous mutation in the CRB2 gene on chromosome 9q33.3.
http://purl.obolibrary.org/obo/DOID_0111626	D-glyceric aciduria	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in the GLYCTK gene on chromosome 3p21.2.
http://purl.obolibrary.org/obo/DOID_0111627	DOORS syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3.
http://purl.obolibrary.org/obo/DOID_0111628	high myopia-sensorineural deafness syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLITRK6 gene on chromosome 13q31.1.
http://purl.obolibrary.org/obo/DOID_0111629	dihydropyrimidinase deficiency	http://purl.obolibrary.org/obo/DOID_0050832	pyrimidine metabolic disorder		A pyrimidine metabolic disorder characterized by a defect in the degradation of uracil and thymine resulting in elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine that has_material_basis_in homozygous or compound heterozygous mutation in the DPYS gene on chromosome 8q22.3.
http://purl.obolibrary.org/obo/DOID_0111630	familial erythrocytosis 8	http://purl.obolibrary.org/obo/DOID_10780	primary polycythemia		A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BPGM gene on chromosome 7q33.
http://purl.obolibrary.org/obo/DOID_0111631	familial erythrocytosis 7	http://purl.obolibrary.org/obo/DOID_10780	primary polycythemia		A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in either the HBA2 or HBA1 gene on chromosome 16p13.3.
http://purl.obolibrary.org/obo/DOID_0111632	familial erythrocytosis 6	http://purl.obolibrary.org/obo/DOID_10780	primary polycythemia		A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4.
http://purl.obolibrary.org/obo/DOID_0111633	congenital sucrase-isomaltase deficiency	http://purl.obolibrary.org/obo/DOID_2978	carbohydrate metabolic disorder		A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1.
http://purl.obolibrary.org/obo/DOID_0111634	autosomal recessive nonsyndromic deafness 99	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM132E gene on chromosome 17q12.
http://purl.obolibrary.org/obo/DOID_0111635	autosomal recessive nonsyndromic deafness 57	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PDZD7 gene on chromosome 10q24.31.
http://purl.obolibrary.org/obo/DOID_0111636	autosomal recessive nonsyndromic deafness 113	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness characterized by postlingual progressive hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the CEACAM16 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0111637	autosomal recessive nonsyndromic deafness 112	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness characterized by postlingual progressive sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the BDP1 gene on chromosome 5q13.2.
http://purl.obolibrary.org/obo/DOID_0111638	autosomal recessive nonsyndromic deafness 100	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the PPIP5K2 gene on chromosome 5q21.1.
http://purl.obolibrary.org/obo/DOID_0111639	autosomal recessive nonsyndromic deafness 109	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the ESRP1 gene on chromosome 8q22.1.
http://purl.obolibrary.org/obo/DOID_0111640	autosomal recessive nonsyndromic deafness 111	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the MPZL2 gene on chromosome 11q23.33.
http://purl.obolibrary.org/obo/DOID_0111641	autosomal recessive nonsyndromic deafness 94	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1.
http://purl.obolibrary.org/obo/DOID_0111642	autosomal recessive nonsyndromic deafness 114	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GRAP gene on chromosome 17p11.2.
http://purl.obolibrary.org/obo/DOID_0111643	autosomal recessive nonsyndromic deafness 115	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness characterized by onset in early childhood of severe sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SPNS2 gene on chromosome 17p13.2.
http://purl.obolibrary.org/obo/DOID_0111644	autosomal recessive nonsyndromic deafness 110	http://purl.obolibrary.org/obo/DOID_0050565	autosomal recessive nonsyndromic deafness		An autosomal recessive nonsyndromic deafness characterized by prelingual, bilateral hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the COCH gene on chromosome 14q12.
http://purl.obolibrary.org/obo/DOID_0111645	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3.
http://purl.obolibrary.org/obo/DOID_0111646	congenital lactase deficiency	http://purl.obolibrary.org/obo/DOID_2978	carbohydrate metabolic disorder		A carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that has_material_basis_in homozygous or compound heterozygous mutation in LCT on chromosome 2q21.3.
http://purl.obolibrary.org/obo/DOID_0111647	Schopf-Schulz-Passarge syndrome	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WNT10A gene on chromosome 2q35.
http://purl.obolibrary.org/obo/DOID_0111648	ectopia lentis with ectopia of pupil	http://purl.obolibrary.org/obo/DOID_5614	eye disease		An eye disease characterized by displacement of the lenses and the pupils in association with other ocular anomalies that has_material_basis_in homozygous or compound heterozygous mutation mutation in the ADAMTSL4 gene on chromosome 1q21.2.
http://purl.obolibrary.org/obo/DOID_0111649	ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the CDH3 gene on chromosome 16q22.1.
http://purl.obolibrary.org/obo/DOID_0111650	ectodermal dysplasia 13	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has_material_basis_in homozygous or compound heterozygous mutation in the KREMEN1 gene on chromosome 22q12.1.
http://purl.obolibrary.org/obo/DOID_0111651	ectodermal dysplasia 15	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An ectodermal dysplasia characterized by onset in early childhood of hypotrichosis and absence of sweating except with extreme exercise that has_material_basis_in homozygous or compound heterozygous mutation in the CST6 gene on chromosome 11q13.1.
http://purl.obolibrary.org/obo/DOID_0111652	ectodermal dysplasia 12	http://purl.obolibrary.org/obo/DOID_14793	hypohidrotic ectodermal dysplasia		A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the KDF1 gene on chromosome 1p36.11.
http://purl.obolibrary.org/obo/DOID_0111653	ectodermal dysplasia 11A	http://purl.obolibrary.org/obo/DOID_14793	hypohidrotic ectodermal dysplasia		A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDARADD gene on chromosome 1q42-q43.
http://purl.obolibrary.org/obo/DOID_0111654	ectodermal dysplasia 11B	http://purl.obolibrary.org/obo/DOID_14793	hypohidrotic ectodermal dysplasia		A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDARADD gene on chromosome 1q42-q43.
http://purl.obolibrary.org/obo/DOID_0111655	pure hair and nail ectodermal dysplasia	http://purl.obolibrary.org/obo/DOID_2121	ectodermal dysplasia		An ectodermal dysplasia characterized by onychodystrophy and severe hypotrichosis without nonectodermal or other ectodermal manifestations.
http://purl.obolibrary.org/obo/DOID_0111656	ectodermal dysplasia 9	http://purl.obolibrary.org/obo/DOID_0111655	pure hair and nail ectodermal dysplasia		A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the HOXC13 gene on chromosome 12q13.13.
http://purl.obolibrary.org/obo/DOID_0111657	ectodermal dysplasia 5	http://purl.obolibrary.org/obo/DOID_0111655	pure hair and nail ectodermal dysplasia		A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 10q24.32-q25.1.
http://purl.obolibrary.org/obo/DOID_0111658	ectodermal dysplasia 4	http://purl.obolibrary.org/obo/DOID_0111655	pure hair and nail ectodermal dysplasia		A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT85 gene on chromosome 12q13.13.
http://purl.obolibrary.org/obo/DOID_0111659	ectodermal dysplasia 6	http://purl.obolibrary.org/obo/DOID_0111655	pure hair and nail ectodermal dysplasia		A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 17p12-q21.2.
http://purl.obolibrary.org/obo/DOID_0111660	ectodermal dysplasia 7	http://purl.obolibrary.org/obo/DOID_0111655	pure hair and nail ectodermal dysplasia		A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT74 gene on chromosome 12q13.13.
http://purl.obolibrary.org/obo/DOID_0111661	ectodermal dysplasia 8	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An ectodermal dysplasia characterized by hypotrichosis, hypodontia, and dystrophic toenails that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 18q22.1-q22.3.
http://purl.obolibrary.org/obo/DOID_0111662	ectodermal dysplasia 14	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		An ectodermal dysplasia characterized by scalp hypotrichosis and hypodontia that has_material_basis_in homozygous or compound heterozygous mutation in the TSPEAR gene on chromosome 21q22.3.
http://purl.obolibrary.org/obo/DOID_0111663	ectodermal dysplasia 10A	http://purl.obolibrary.org/obo/DOID_14793	hypohidrotic ectodermal dysplasia		A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDAR gene on chromosome 2q13.
http://purl.obolibrary.org/obo/DOID_0111664	ectodermal dysplasia 1	http://purl.obolibrary.org/obo/DOID_14793	hypohidrotic ectodermal dysplasia		A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1.
http://purl.obolibrary.org/obo/DOID_0111665	ectodermal dysplasia 10B	http://purl.obolibrary.org/obo/DOID_14793	hypohidrotic ectodermal dysplasia		A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDAR gene on chromosome 2q13.
http://purl.obolibrary.org/obo/DOID_0111666	proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR2 gene on chromosome 14q24.3.
http://purl.obolibrary.org/obo/DOID_0111667	enterokinase deficiency	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in the TMPRSS15 gene on chromosome 21q21.1.
http://purl.obolibrary.org/obo/DOID_0111668	Kohlschutter-Tonz syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3.
http://purl.obolibrary.org/obo/DOID_0111669	hyaline fibromatosis syndrome	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR2 gene on chromosome 4q21.21.
http://purl.obolibrary.org/obo/DOID_0080667	spinal muscular atrophy type 0	http://purl.obolibrary.org/obo/DOID_0060160	childhood spinal muscular atrophy		A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles.
http://purl.obolibrary.org/obo/DOID_0111813	syndactyly type 8	http://purl.obolibrary.org/obo/DOID_11193	syndactyly		A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that has_material_basis_in hemizygous or homozygous mutation in the FGF16 gene on chromosome Xq21.1.
http://purl.obolibrary.org/obo/DOID_0111814	methylmalonic acidemia and homocysteinemia cblX type	http://purl.obolibrary.org/obo/DOID_14749	methylmalonic acidemia		A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in the HCFC1 gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0111815	low molecular weight proteinuria with hypercalciuric nephrocalcinosis	http://purl.obolibrary.org/obo/DOID_0050699	Dent disease		A Dent disease characterized by elevated levels of low molecular weight proteins in the urine, hypercalciuria, and nephrocalcinosis that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.22.
http://purl.obolibrary.org/obo/DOID_0111816	syndactyly type 1	http://purl.obolibrary.org/obo/DOID_11193	syndactyly		A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that has_material_basis_in heterozygous duplication of a region of chromosome 2q34-q36.
http://purl.obolibrary.org/obo/DOID_0111817	syndactyly type 3	http://purl.obolibrary.org/obo/DOID_11193	syndactyly		A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that has_material_basis_in heterozygous mutation in the GJA1 gene on chromosome 6q22.31.
http://purl.obolibrary.org/obo/DOID_0111818	syndactyly type 4	http://purl.obolibrary.org/obo/DOID_11193	syndactyly		A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of the LMBR1 gene on chromosome 7q36.3.
http://purl.obolibrary.org/obo/DOID_0111819	syndactyly type 5	http://purl.obolibrary.org/obo/DOID_11193	syndactyly		A syndactyly characterized by postaxial syndactyly of the hands and feet associated with metacarpal and metatarsal fusion typically affecting the 4th and 5th or the 3rd and 4th digits that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.1.
http://purl.obolibrary.org/obo/DOID_0111820	zygodactyly 1	http://purl.obolibrary.org/obo/DOID_11193	syndactyly		A syndactyly characterized by webbing between the second and third toes in the absence of hand involvement.
http://purl.obolibrary.org/obo/DOID_0111821	ichthyosis follicularis-alopecia-photophobia syndrome 1	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in the MBTPS2 gene on chromosome Xp22.12.
http://purl.obolibrary.org/obo/DOID_0111822	CHILD syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has_material_basis_in heterozygous mutation in the NSDHL gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0111823	autosomal hemophilia A	http://purl.obolibrary.org/obo/DOID_0061030	hemophilia		A hemophilia characterized by autosomal inheritance of a Factor VIII deficiency.
http://purl.obolibrary.org/obo/DOID_0111825	autosomal dominant Aarskog syndrome	http://purl.obolibrary.org/obo/DOID_0111824	Aarskog syndrome		An Aarskog syndrome characterized by autosomal dominant inheritance.
http://purl.obolibrary.org/obo/DOID_0111826	Abruzzo-Erickson syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in the TBX22 gene on chromosome Xq21.1.
http://purl.obolibrary.org/obo/DOID_0111827	X-linked spinal muscular atrophy 2	http://purl.obolibrary.org/obo/DOID_12377	spinal muscular atrophy		A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in the UBA1 gene on chromosome Xp11.3.
http://purl.obolibrary.org/obo/DOID_0111828	X-linked cerebellar ataxia	http://purl.obolibrary.org/obo/DOID_0050953	X-linked hereditary ataxia		A hereditary ataxia characterized by X-linked inheritance.
http://purl.obolibrary.org/obo/DOID_0111829	X-linked spinocerebellar ataxia 1	http://purl.obolibrary.org/obo/DOID_0111828	X-linked cerebellar ataxia		An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in the ATP2B3 gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0111830	X-linked spinocerebellar ataxia 2	http://purl.obolibrary.org/obo/DOID_0111828	X-linked cerebellar ataxia		An X-linked cerebellar ataxia characterized by infantile onset of ataxia, severe atrophy of the cerebellum, diffuse small cysts, pale inferior olives, and gliosis with X-linked inheritance.
http://purl.obolibrary.org/obo/DOID_0111831	X-linked spinocerebellar ataxia 3	http://purl.obolibrary.org/obo/DOID_0111828	X-linked cerebellar ataxia		An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance.
http://purl.obolibrary.org/obo/DOID_0111832	X-linked spinocerebellar ataxia 4	http://purl.obolibrary.org/obo/DOID_0111828	X-linked cerebellar ataxia		An X-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with X-linked inheritance.
http://purl.obolibrary.org/obo/DOID_0111833	X-linked spinocerebellar ataxia 5	http://purl.obolibrary.org/obo/DOID_0111828	X-linked cerebellar ataxia		An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome Xq25-q27.1.
http://purl.obolibrary.org/obo/DOID_0111834	X-linked reticulate pigmentary disorder	http://purl.obolibrary.org/obo/DOID_10123	pigmentation disease		A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abnormalities along the lines of Blaschko in heterozygous females that has_material_basis_in mutation in the POLA1 gene on chromosome Xp22.1-p21.3.
http://purl.obolibrary.org/obo/DOID_0111835	congenital nongoitrous hypothyroidism 9	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A congenital hypothyroidism characterized by a small thyroid gland with low free T4 levels and inappropriately normal levels of thyroid-stimulating hormone that has_material_basis_in hemizygous mutation in the IRS4 gene on chromosome Xq22.3.
http://purl.obolibrary.org/obo/DOID_0111836	congenital nongoitrous hypothyroidism 7	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in the TRHR gene on chromosome 8q23.1.
http://purl.obolibrary.org/obo/DOID_0111837	congenital nongoitrous hypothyroidism 8	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has_material_basis_in heterozygous or hemizygous mutation in the TBL1X gene on chromosome Xp22.3-p22.2.
http://purl.obolibrary.org/obo/DOID_0111838	Basilicata-Akhtar syndrome	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that has_material_basis_in hemizygous or heterozygous mutation in the MSL3 gene on chromosome Xp22.2.
http://purl.obolibrary.org/obo/DOID_0111839	congenital disorder of glycosylation Icc	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A congenital disorder of glycosylation type I characterized by developmental delay, impaired intellectual development, and mild facial dysmorphism associated with abnormal serum transferrin isoelectic focusing consistent with a type 1 pattern that has_material_basis_in hemizygous mutation in the MAGT1 gene on chromosome Xq21.1.
http://purl.obolibrary.org/obo/DOID_0111840	Van Esch-O'Driscoll syndrome	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in the POLA1 gene on chromosome Xp22.1-p21.3.
http://purl.obolibrary.org/obo/DOID_0111841	Shukla-Vernon syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by global developmental delay, variably impaired intellectual development, variable dysmorphic features, and behavioral abnormalities, including autism spectrum disorder and ADHD that has_material_basis_in hemizygous mutation in the BCORL1 gene on chromosome Xq26.1.
http://purl.obolibrary.org/obo/DOID_0111842	Keipert syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in the GPC4 gene on chromosome Xq26.2.
http://purl.obolibrary.org/obo/DOID_0111843	Paganini-Miozzo syndrome	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in the HS6ST2 gene on chromosome Xq26.2.
http://purl.obolibrary.org/obo/DOID_0111844	X-linked intellectual developmental disorder 108	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A syndromic X-linked intellectual disability characterized by global developmental delay, delayed walking, and poor speech acquisition that has_material_basis_in hemizygous mutation in the SLC9A7 gene on chromosome Xp11.3.
http://purl.obolibrary.org/obo/DOID_0111845	Mullegama-Klein-Martinez syndrome	http://purl.obolibrary.org/obo/DOID_0060309	syndromic X-linked intellectual disability		A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in the STAG2 gene on chromosome Xq25.
http://purl.obolibrary.org/obo/DOID_0111846	X-linked congenital hemolytic anemia	http://purl.obolibrary.org/obo/DOID_589	congenital hemolytic anemia		A congenital hemolytic anemia characterized by mild congenital hemolytic anemia without morphologic red cell abnormalities that has_material_basis_in hemizygous mutation in the ATP11C gene on chromosome Xq27.1.
http://purl.obolibrary.org/obo/DOID_0111847	osteogenesis imperfecta type 19	http://purl.obolibrary.org/obo/DOID_12347	osteogenesis imperfecta		An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12.
http://purl.obolibrary.org/obo/DOID_0111848	osteogenesis imperfecta type 18	http://purl.obolibrary.org/obo/DOID_12347	osteogenesis imperfecta		An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in TENT5A on chromosome 6q14.1.
http://purl.obolibrary.org/obo/DOID_0111849	osteogenesis imperfecta type 20	http://purl.obolibrary.org/obo/DOID_12347	osteogenesis imperfecta		An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1.
http://purl.obolibrary.org/obo/DOID_0111850	primary ciliary dyskinesia 36	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has_material_basis_in hemizygous mutation in the PIH1D3 gene on chromosome Xq22.3.
http://purl.obolibrary.org/obo/DOID_0111851	primary ciliary dyskinesia 44	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in the NEK10 gene on chromosome 3p24.1.
http://purl.obolibrary.org/obo/DOID_0111852	primary ciliary dyskinesia 38	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP300 gene on chromosome 11q22.1.
http://purl.obolibrary.org/obo/DOID_0111853	primary ciliary dyskinesia 40	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH9 gene on chromosome 17p12.
http://purl.obolibrary.org/obo/DOID_0111854	primary ciliary dyskinesia 39	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5.
http://purl.obolibrary.org/obo/DOID_0111855	primary ciliary dyskinesia 42	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the MCIDAS gene on chromosome 5q11.2.
http://purl.obolibrary.org/obo/DOID_0111856	primary ciliary dyskinesia 43	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has_material_basis_in heterozygous mutation in FOXJ1 on chromosome 17q25.1.
http://purl.obolibrary.org/obo/DOID_0111857	primary ciliary dyskinesia 45	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the TTC12 gene on chromosome 11q23.2.
http://purl.obolibrary.org/obo/DOID_0111858	primary ciliary dyskinesia 41	http://purl.obolibrary.org/obo/DOID_9562	primary ciliary dyskinesia		A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on chromosome 17q12.
http://purl.obolibrary.org/obo/DOID_0080709	NK cell deficiency	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that results from deficiency in the number or function of CD56+CD3− NK cell in peripheral blood.
http://purl.obolibrary.org/obo/DOID_0080710	T cell and NK cell immunodeficiency	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency.
http://purl.obolibrary.org/obo/DOID_0080711	multisystem inflammatory syndrome in children	http://purl.obolibrary.org/obo/DOID_0080599	Coronavirus infectious disease		A Coronavirus infectious disease that is characterized by a patient aged less than 21 years with fever, laboratory evidence of inflammation, and evidence of clinically severe illness requiring hospitalization, with multisystem organ involvement (cardiovascular, dermatologic, gastrointestinal, hematologic, neurologic, renal, or respiratory) who tested positive for SARS-CoV-2 or had exposure to COVID-19.
http://purl.obolibrary.org/obo/DOID_0080712	gene duplication disease	http://purl.obolibrary.org/obo/DOID_0050177	monogenic disease		A monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene.
http://purl.obolibrary.org/obo/DOID_0080714	hereditary alpha tryptasemia syndrome	http://purl.obolibrary.org/obo/DOID_0080712	gene duplication disease		A syndrome that is characterized by high blood tryptase levels and that has_material_basis_in inherited extra copies of the alpha tryptase gene (TPSAB1), effecting multiple organ systems including skin and connective tissues, the gastrointestinal and cardiovascular systems.
http://purl.obolibrary.org/obo/DOID_0080715	developmental and epileptic encephalopathy 82	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21.
http://purl.obolibrary.org/obo/DOID_0080716	infantile liver failure syndrome	http://purl.obolibrary.org/obo/DOID_409	liver disease		A syndrome that is characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate.
http://purl.obolibrary.org/obo/DOID_0080717	infantile liver failure syndrome 1	http://purl.obolibrary.org/obo/DOID_0080716	infantile liver failure syndrome		An infantile liver failure syndrome that has_material_basis_in homozygous mutation in the LARS gene (LARS1) on chromosome 5q32.
http://purl.obolibrary.org/obo/DOID_0080718	GNE myopathy	http://purl.obolibrary.org/obo/DOID_423	myopathy		A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis.
http://purl.obolibrary.org/obo/DOID_0080719	congenital myopathy 6	http://purl.obolibrary.org/obo/DOID_0081337	congenital myopathy		A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0080720	autosomal dominant congenital deafness with onychodystrophy	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has_material_basis_in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21.
http://purl.obolibrary.org/obo/DOID_0080721	calvarial doughnut lesions with bone fragility	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones.
http://purl.obolibrary.org/obo/DOID_0080722	Kenny-Caffey syndrome type 1	http://purl.obolibrary.org/obo/DOID_0080724	Kenny-Caffey syndrome		A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42.
http://purl.obolibrary.org/obo/DOID_0080723	Kenny-Caffey syndrome type 2	http://purl.obolibrary.org/obo/DOID_0080724	Kenny-Caffey syndrome		A Kenny-Caffey syndrome that has_material_basis_in heterozygous mutation in the FAM111A gene on chromosome 11q12.
http://purl.obolibrary.org/obo/DOID_0080724	Kenny-Caffey syndrome	http://purl.obolibrary.org/obo/DOID_2256	osteochondrodysplasia		A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia.
http://purl.obolibrary.org/obo/DOID_0080725	BASAN syndrome	http://purl.obolibrary.org/obo/DOID_2121	ectodermal dysplasia		An ectodermal dysplasia that is characterized by neonatal blisters and milia and congenital absence of dermatoglyphics on the hands and feet.
http://purl.obolibrary.org/obo/DOID_0080726	Ehlers-Danlos syndrome classic type 2	http://purl.obolibrary.org/obo/DOID_13359	Ehlers-Danlos syndrome		An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the collagen alpha-2(V) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars.
http://purl.obolibrary.org/obo/DOID_0080727	Ehlers-Danlos syndrome arthrochalasia type 1	http://purl.obolibrary.org/obo/DOID_13359	Ehlers-Danlos syndrome		An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0080728	Ehlers-Danlos syndrome arthrochalasia type 2	http://purl.obolibrary.org/obo/DOID_13359	Ehlers-Danlos syndrome		An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21.
http://purl.obolibrary.org/obo/DOID_0080729	brittle cornea syndrome 2	http://purl.obolibrary.org/obo/DOID_13359	Ehlers-Danlos syndrome		An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the PRDM5 gene on chromosome 4q27.
http://purl.obolibrary.org/obo/DOID_0080730	Ehlers-Danlos syndrome cardiac valvular type	http://purl.obolibrary.org/obo/DOID_13359	Ehlers-Danlos syndrome		An Ehlers-Danlos syndrome that is characterized by severe problems with heart valves and that has_material_basis_in homozygous or compound heterozygous mutation in the COL1A2 gene on chromosome 7q21.
http://purl.obolibrary.org/obo/DOID_0080731	Ehlers-Danlos syndrome classic-like 1	http://purl.obolibrary.org/obo/DOID_13359	Ehlers-Danlos syndrome		An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0080732	Ehlers-Danlos syndrome classic-like 2	http://purl.obolibrary.org/obo/DOID_13359	Ehlers-Danlos syndrome		An Ehlers-Danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations.
http://purl.obolibrary.org/obo/DOID_0080733	Ehlers-Danlos syndrome dermatosparaxis type	http://purl.obolibrary.org/obo/DOID_13359	Ehlers-Danlos syndrome		An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35.
http://purl.obolibrary.org/obo/DOID_0080734	Ehlers-Danlos syndrome kyphoscoliotic type 1	http://purl.obolibrary.org/obo/DOID_13359	Ehlers-Danlos syndrome		An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0080735	Ehlers-Danlos syndrome kyphoscoliotic type 2	http://purl.obolibrary.org/obo/DOID_13359	Ehlers-Danlos syndrome		An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15.
http://purl.obolibrary.org/obo/DOID_0080736	Ehlers-Danlos syndrome musculocontractural type 1	http://purl.obolibrary.org/obo/DOID_13359	Ehlers-Danlos syndrome		An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14.
http://purl.obolibrary.org/obo/DOID_0080737	Ehlers-Danlos syndrome musculocontractural type 2	http://purl.obolibrary.org/obo/DOID_13359	Ehlers-Danlos syndrome		An Ehlers-Danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the DSE gene on chromosome 6q22.
http://purl.obolibrary.org/obo/DOID_0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	http://purl.obolibrary.org/obo/DOID_13359	Ehlers-Danlos syndrome		An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35.
http://purl.obolibrary.org/obo/DOID_0080739	Ehlers-Danlos syndrome spondylodysplastic type 3	http://purl.obolibrary.org/obo/DOID_13359	Ehlers-Danlos syndrome		An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features.
http://purl.obolibrary.org/obo/DOID_0080740	Libman-Sacks endocarditis	http://purl.obolibrary.org/obo/DOID_0060068	nonbacterial thrombotic endocarditis		A nonbacterial thrombotic endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease.
http://purl.obolibrary.org/obo/DOID_0080741	limbic encephalitis	http://purl.obolibrary.org/obo/DOID_9588	encephalitis		An encephalitis that is characterized by subacute onset of short-term memory deficits, seizures or psychiatric symptoms located_in the medial temporal lobes.
http://purl.obolibrary.org/obo/DOID_0080742	autoimmune cholangitis	http://purl.obolibrary.org/obo/DOID_2048	autoimmune hepatitis		An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera.
http://purl.obolibrary.org/obo/DOID_0080743	transverse myelitis	http://purl.obolibrary.org/obo/DOID_322	myelitis		A myelitis that is characterized by a band-like sensation across the trunk of the body, with sensory changes below.
http://purl.obolibrary.org/obo/DOID_0080744	antisynthetase syndrome	http://purl.obolibrary.org/obo/DOID_417	autoimmune disease		An autoimmune disease that is characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease, and serum autoantibodies to aminoacyl transfer RNA synthetases.
http://purl.obolibrary.org/obo/DOID_0080745	polymyositis	http://purl.obolibrary.org/obo/DOID_633	myositis		A myositis that is characterized by muscle weakness affecting both sides of your body.
http://purl.obolibrary.org/obo/DOID_0080746	Sweet syndrome	http://purl.obolibrary.org/obo/DOID_37	skin disease		A skin disease that is characterized by sudden onset of well defined tender plaques or nodules accompanied by fever, arthralgias, ocular inflammation, headaches and, rarely, oral or genital lesions.
http://purl.obolibrary.org/obo/DOID_0080747	chronic urticaria	http://purl.obolibrary.org/obo/DOID_1555	urticaria		An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week.
http://purl.obolibrary.org/obo/DOID_0080748	chronic inducible urticaria	http://purl.obolibrary.org/obo/DOID_0080747	chronic urticaria		A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours.
http://purl.obolibrary.org/obo/DOID_0080749	chronic spontaneous urticaria	http://purl.obolibrary.org/obo/DOID_0080747	chronic urticaria		A chronic urticaria that is characterized by urticaria independent of any exogenous stimulus.
http://purl.obolibrary.org/obo/DOID_0080750	erythema nodosum	http://purl.obolibrary.org/obo/DOID_1526	panniculitis		A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter.
http://purl.obolibrary.org/obo/DOID_0080751	keratosis pilaris atrophicans	http://purl.obolibrary.org/obo/DOID_1697	ichthyosis		An ichthyosis that is characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin.
http://purl.obolibrary.org/obo/DOID_0080752	keratosis pilaris atrophicans faciei	http://purl.obolibrary.org/obo/DOID_0080751	keratosis pilaris atrophicans		A keratosis pilaris atrophicans that is characterized by scar-like follicular depressions and loss of hair primarily in the eyebrow area.
http://purl.obolibrary.org/obo/DOID_0080753	keratosis follicularis spinulosa decalvans	http://purl.obolibrary.org/obo/DOID_0080751	keratosis pilaris atrophicans		A keratosis pilaris atrophicans that is characterized by scarring alopecia of the scalp, eyebrows, and axillae, sometimes associated with photophobia and keratoderma.
http://purl.obolibrary.org/obo/DOID_0080754	X-linked keratosis follicularis spinulosa decalvans	http://purl.obolibrary.org/obo/DOID_0080753	keratosis follicularis spinulosa decalvans		A keratosis follicularis spinulosa decalvans that has_material_basis_in mutation in the MBTPS2 gene.
http://purl.obolibrary.org/obo/DOID_0080755	autosomal dominant keratosis follicularis spinulosa decalvans	http://purl.obolibrary.org/obo/DOID_0080753	keratosis follicularis spinulosa decalvans		A keratosis follicularis spinulosa decalvans that has_material_basis_in autosomal dominant inheritance.
http://purl.obolibrary.org/obo/DOID_0080756	atrophoderma vermiculata	http://purl.obolibrary.org/obo/DOID_0080751	keratosis pilaris atrophicans		A keratosis pilaris atrophicans that typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead.
http://purl.obolibrary.org/obo/DOID_0080757	Fanconi renotubular syndrome 1	http://purl.obolibrary.org/obo/DOID_1062	Fanconi syndrome		A Fanconi syndrome that has_material_basis_in heterozygous mutation in the GATM gene on chromosome 15q21.
http://purl.obolibrary.org/obo/DOID_0080758	Fanconi renotubular syndrome 2	http://purl.obolibrary.org/obo/DOID_1062	Fanconi syndrome		A Fanconi syndrome that has_material_basis_in homozygous mutation in the SLC34A1 gene on chromosome 5q35.
http://purl.obolibrary.org/obo/DOID_0080759	Fanconi renotubular syndrome 3	http://purl.obolibrary.org/obo/DOID_1062	Fanconi syndrome		A Fanconi syndrome that is characterized by characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria and that has_material_basis_in heterozygous mutation in the EHHADH gene on chromosome 3q27.
http://purl.obolibrary.org/obo/DOID_0080760	Fanconi renotubular syndrome 4	http://purl.obolibrary.org/obo/DOID_1062	Fanconi syndrome		A Fanconi syndrome that has_material_basis_in heterozygous mutation in the HNF4A gene on chromosome 20q13.
http://purl.obolibrary.org/obo/DOID_0080761	Fanconi renotubular syndrome 5	http://purl.obolibrary.org/obo/DOID_1062	Fanconi syndrome		A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22.
http://purl.obolibrary.org/obo/DOID_0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z	http://purl.obolibrary.org/obo/DOID_0110274	autosomal recessive limb-girdle muscular dystrophy		An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13.
http://purl.obolibrary.org/obo/DOID_0080763	diffuse gastric cancer	http://purl.obolibrary.org/obo/DOID_10534	stomach cancer		A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining.
http://purl.obolibrary.org/obo/DOID_0080764	hereditary diffuse gastric cancer	http://purl.obolibrary.org/obo/DOID_0080763	diffuse gastric cancer		A diffuse gastric cancer that is characterized by characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes.
http://purl.obolibrary.org/obo/DOID_0080765	autosomal recessive intellectual developmental disorder 72	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL5 gene on chromosome 2q31.
http://purl.obolibrary.org/obo/DOID_0111931	syndactyly-telecanthus-anogenital and renal malformations syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by toe syndactyly, telecanthus and anogenital and renal malformations that has_material_basis_in heterozygous mutation in the FAM58A gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0111932	severe congenital encephalopathy due to MECP2 mutation	http://purl.obolibrary.org/obo/DOID_936	brain disease		A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0111933	phosphoglycerate kinase 1 deficiency	http://purl.obolibrary.org/obo/DOID_4194	glucose metabolism disease		A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in the PGK1 gene on chromosome Xq21.1.
http://purl.obolibrary.org/obo/DOID_0111934	immunodeficiency 38	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in the ISG15 gene on chromosome 1p36.33.
http://purl.obolibrary.org/obo/DOID_0111935	immunodeficiency 16	http://purl.obolibrary.org/obo/DOID_628	combined T cell and B cell immunodeficiency		A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF4 gene on chromosome 1p36.33.
http://purl.obolibrary.org/obo/DOID_0111936	immunodeficiency 14	http://purl.obolibrary.org/obo/DOID_628	combined T cell and B cell immunodeficiency		A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22.
http://purl.obolibrary.org/obo/DOID_0111937	immunodeficiency 22	http://purl.obolibrary.org/obo/DOID_627	severe combined immunodeficiency		A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2.
http://purl.obolibrary.org/obo/DOID_0111938	immunodeficiency 24	http://purl.obolibrary.org/obo/DOID_627	severe combined immunodeficiency		A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in the CTPS1 gene on chromosome 1p34.2.
http://purl.obolibrary.org/obo/DOID_0111939	immunodeficiency 37	http://purl.obolibrary.org/obo/DOID_628	combined T cell and B cell immunodeficiency		A combined T cell and B cell immunodeficiency characterized by hypogammaglobulinemia with profoundly reduced memory B cells and memory T cells and increased numbers of circulating naive lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the BCL10 gene on chromosome 1p22.3.
http://purl.obolibrary.org/obo/DOID_0111940	immunodeficiency 42	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RORC gene on chromosome 1q21.3.
http://purl.obolibrary.org/obo/DOID_0111941	immunodeficiency 20	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that has_material_basis_in homozygous or compound heterozygous mutation in the FCGR3A gene on chromosome 1q23.3.
http://purl.obolibrary.org/obo/DOID_0111942	immunodeficiency 25	http://purl.obolibrary.org/obo/DOID_11200	T cell deficiency		A T cell deficiency characterized by decreased T cell counts, normal B cell counts, and eosinophilia that has_material_basis_in homozygous or compound heterozygous mutation in the CD247 gene on chromosome 1q24.2.
http://purl.obolibrary.org/obo/DOID_0111943	immunodeficiency 48	http://purl.obolibrary.org/obo/DOID_11200	T cell deficiency		A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in the ZAP70 gene on chromosome 2q11.2.
http://purl.obolibrary.org/obo/DOID_0111944	immunodeficiency 31B	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in the STAT1 gene on chromosome 2q32.2.
http://purl.obolibrary.org/obo/DOID_0111945	immunodeficiency 31A	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in the STAT1 gene on chromosome 2q32.2.
http://purl.obolibrary.org/obo/DOID_0111946	immunodeficiency 31C	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in the STAT1 gene on chromosome 2q32.2.
http://purl.obolibrary.org/obo/DOID_0111947	immunodeficiency 21	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3.
http://purl.obolibrary.org/obo/DOID_0111948	immunodeficiency 46	http://purl.obolibrary.org/obo/DOID_628	combined T cell and B cell immunodeficiency		A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in the TFRC gene on chromosome 3q29.
http://purl.obolibrary.org/obo/DOID_0111949	immunodeficiency 36	http://purl.obolibrary.org/obo/DOID_628	combined T cell and B cell immunodeficiency		A combined T cell and B cell immunodeficiency characterized by infantile or childhood onset of recurrent bacterial respiratory tract infections, lymphoproliferation, variable antibody deficiency (sometimes with hyper IgM), chronic viral infection (EBV, CMV), and autoimmunity that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.
http://purl.obolibrary.org/obo/DOID_0111950	immunodeficiency 29	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IL12B gene on chromosome 5q33.3.
http://purl.obolibrary.org/obo/DOID_0111951	immunodeficiency 40	http://purl.obolibrary.org/obo/DOID_628	combined T cell and B cell immunodeficiency		A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1.
http://purl.obolibrary.org/obo/DOID_0111952	immunodeficiency 57	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_material_basis_in homozygous or compound heterozygous mutation in the RIPK1 gene on chromosome 6p25.2.
http://purl.obolibrary.org/obo/DOID_0111953	immunodeficiency 23	http://purl.obolibrary.org/obo/DOID_628	combined T cell and B cell immunodeficiency		A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the PGM3 gene on chromosome 6q14.1.
http://purl.obolibrary.org/obo/DOID_0111954	immunodeficiency 60	http://purl.obolibrary.org/obo/DOID_628	combined T cell and B cell immunodeficiency		A combined T cell and B cell immunodeficiency characterized by variably decreased immunoglobulin production, decreased T-regulatory cells, overall impaired lymphocyte maturation, inflammatory bowel disease and recurrent sinopulmonary infections that has_material_basis_in heterozygous mutation in the BACH2 gene on chromosome 6q15.
http://purl.obolibrary.org/obo/DOID_0111955	immunodeficiency 27A	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3.
http://purl.obolibrary.org/obo/DOID_0111956	immunodeficiency 27B	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro and recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3.
http://purl.obolibrary.org/obo/DOID_0111957	immunodeficiency 11A	http://purl.obolibrary.org/obo/DOID_627	severe combined immunodeficiency		A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in the CARD11 gene on chromosome 7p22.2.
http://purl.obolibrary.org/obo/DOID_0111958	immunodeficiency 11B	http://purl.obolibrary.org/obo/DOID_11200	T cell deficiency		A T cell deficiency characterized by defects in T-cell activation, increased IgE, eosinophilia and early childhood onset of moderate to severe atopic dermatitis that has_material_basis_in heterozygous mutation in the CARD11 gene on chromosome 7p22.2.
http://purl.obolibrary.org/obo/DOID_0111959	immunodeficiency 15B	http://purl.obolibrary.org/obo/DOID_627	severe combined immunodeficiency		A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in the IKBKB gene on chromosome 8p11.21.
http://purl.obolibrary.org/obo/DOID_0111960	immunodeficiency 15A	http://purl.obolibrary.org/obo/DOID_628	combined T cell and B cell immunodeficiency		A combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in the IKBKB gene on chromosome 8p11.21.
http://purl.obolibrary.org/obo/DOID_0111961	immunodeficiency 26	http://purl.obolibrary.org/obo/DOID_627	severe combined immunodeficiency		A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in the PRKDC gene on chromosome 8q11.21.
http://purl.obolibrary.org/obo/DOID_0111963	dendritic cell deficiency	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells.
http://purl.obolibrary.org/obo/DOID_0111964	B cell and dendritic cell deficiency	http://purl.obolibrary.org/obo/DOID_0111962	combined immunodeficiency		A combined immunodeficiency characterized by impaired function or reduced numbers of dendritic cells and B cells.
http://purl.obolibrary.org/obo/DOID_0111965	T cell, B cell, and NK cell deficiency	http://purl.obolibrary.org/obo/DOID_0111962	combined immunodeficiency		A combined immunodeficiency characterized by impaired function or reduced numbers of T cells, B cells, and natural killer (NK) cells.
http://purl.obolibrary.org/obo/DOID_0111966	monocyte, dendritic cell, and NK cell deficiency	http://purl.obolibrary.org/obo/DOID_0111962	combined immunodeficiency		A combined immunodeficiency characterized by impaired function or reduced numbers of monocytes, dendritic cells, and natural killer (NK) cells.
http://purl.obolibrary.org/obo/DOID_0111967	immunodeficiency 54	http://purl.obolibrary.org/obo/DOID_0080709	NK cell deficiency		A NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the MCM4 gene on chromosome 8q11.21.
http://purl.obolibrary.org/obo/DOID_0111968	immunodeficiency 41	http://purl.obolibrary.org/obo/DOID_0111962	combined immunodeficiency		A combined immunodeficiency characterized by a defect in T cell regulation with proliferation of CD8+ T cells, impaired antibody specific responses, and elevated cytokines resulting in recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RA gene on chromosome 10p15.1.
http://purl.obolibrary.org/obo/DOID_0111969	immunodeficiency 39	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease characterized by impaired interferon I and III production in response to influenza virus infection that has_material_basis_in homozygous or compond heterozygous mutation in the IRF7 gene on chromosome 11p15.5.
http://purl.obolibrary.org/obo/DOID_0111970	immunodeficiency 10	http://purl.obolibrary.org/obo/DOID_0080710	T cell and NK cell immunodeficiency		A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous mutation in the STIM1 gene on chromosome 11p15.4.
http://purl.obolibrary.org/obo/DOID_0111971	immunodeficiency 18	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3E gene on chromosome 11q23.3.
http://purl.obolibrary.org/obo/DOID_0111972	immunodeficiency 19	http://purl.obolibrary.org/obo/DOID_627	severe combined immunodeficiency		A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the CD3D gene on chromosome 11q23.3.
http://purl.obolibrary.org/obo/DOID_0111973	immunodeficiency 17	http://purl.obolibrary.org/obo/DOID_11200	T cell deficiency		A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clinical severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3.
http://purl.obolibrary.org/obo/DOID_0111974	immunodeficiency 59	http://purl.obolibrary.org/obo/DOID_0111964	B cell and dendritic cell deficiency		A B cell and dendritic cell deficiency characterized by granulocytopenia, B-cell and dentritic cell deficiency, recurrent septic infections of the respiratory tract, skin, and mucous membranes, and stress-induced hypoglycemia that has_material_basis_in homozygous or compound heterozygous mutation in the HYOU1 gene on chromosome 11q23.3.
http://purl.obolibrary.org/obo/DOID_0111975	immunodeficiency 44	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that has_material_basis_in homozygous or compound heterozygous mutation in the STAT2 gene on chromosome 12q13.3.
http://purl.obolibrary.org/obo/DOID_0111976	immunodeficiency 9	http://purl.obolibrary.org/obo/DOID_11200	T cell deficiency		A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ORAI1 gene, which encodes a subunit of the plasma membrane calcium channel CRAC, on chromosome 12q24.31.
http://purl.obolibrary.org/obo/DOID_0111977	immunodeficiency 7	http://purl.obolibrary.org/obo/DOID_11200	T cell deficiency		A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the TRAC gene on chromosome 14q11.2.
http://purl.obolibrary.org/obo/DOID_0111978	immunodeficiency 65	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease characterized by onset in early infancy of recurrent and severe viral infections, impaired cellular type I interferon response, and poor outcomes after vaccination with live attenuated vaccines that has_material_basis_in homozygous or compound heterozygous mutation in the IRF9 gene on chromosome 14q12.
http://purl.obolibrary.org/obo/DOID_0111979	immunodeficiency 49	http://purl.obolibrary.org/obo/DOID_11200	T cell deficiency		A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in the BCL11B gene on chromosome 14q32.2.
http://purl.obolibrary.org/obo/DOID_0111980	immunodeficiency 64	http://purl.obolibrary.org/obo/DOID_0111965	T cell, B cell, and NK cell deficiency		A T cell, B cell, and NK cell deficiency characterized by variably decreased numbers of T cells, lesser deficiencies of B and NK cells, decreased phosphorylation of the extracellular-signal-regulated serine kinase ERK in T and B cells, and onset in early childhood of recurrent bacterial, viral, and fungal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RASGRP1 gene on chromosome 15q14.
http://purl.obolibrary.org/obo/DOID_0111981	immunodeficiency 43	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin G and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and excessive gastrointestinal protein that has_material_basis_in homozygous or compound heterozygous mutation in B2M on chromosome 15q21.1.
http://purl.obolibrary.org/obo/DOID_0111982	immunodeficiency 56	http://purl.obolibrary.org/obo/DOID_628	combined T cell and B cell immunodeficiency		A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL21R gene on chromosome 16p12.1.
http://purl.obolibrary.org/obo/DOID_0111983	immunodeficiency 52	http://purl.obolibrary.org/obo/DOID_11200	T cell deficiency		A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2.
http://purl.obolibrary.org/obo/DOID_0111984	immunodeficiency 58	http://purl.obolibrary.org/obo/DOID_628	combined T cell and B cell immunodeficiency		A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in the CARMIL2 gene on chromosome 16q22.1.
http://purl.obolibrary.org/obo/DOID_0111985	immunodeficiency 32B	http://purl.obolibrary.org/obo/DOID_0111966	monocyte, dendritic cell, and NK cell deficiency		A monocyte, dendritic cell, and NK cell deficiency characterized by defects in monocyte, dendritic cell, and natural killer (NK) cell development or function resulting recurrent infections particularly viral nfections that has_material_basis_in homozygous or compound heterozygous mutation in the IRF8 gene on chromosome 16q24.1.
http://purl.obolibrary.org/obo/DOID_0111986	immunodeficiency 32A	http://purl.obolibrary.org/obo/DOID_0111963	dendritic cell deficiency		A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in the IRF8 gene on chromosome 16q24.1.
http://purl.obolibrary.org/obo/DOID_0111987	immunodeficiency 13	http://purl.obolibrary.org/obo/DOID_11200	T cell deficiency		A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.2.
http://purl.obolibrary.org/obo/DOID_0111988	immunodeficiency 12	http://purl.obolibrary.org/obo/DOID_0111962	combined immunodeficiency		A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired T cells proliferative responses to mitogens that has_material_basis_in homozygous or compound heterozygous mutation in the MALT1 gene on chromosome 18q21.32.
http://purl.obolibrary.org/obo/DOID_0111989	immunodeficiency 35	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in the TYK2 gene on chromosome 19p13.2.
http://purl.obolibrary.org/obo/DOID_0111990	immunodeficiency 30	http://purl.obolibrary.org/obo/DOID_0080710	T cell and NK cell immunodeficiency		A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL12RB1 gene on chromosome 19p13.11.
http://purl.obolibrary.org/obo/DOID_0111991	immunodeficiency 62	http://purl.obolibrary.org/obo/DOID_2115	B cell deficiency		A B cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF1 gene on chromosome 19q13.2.
http://purl.obolibrary.org/obo/DOID_0111992	immunodeficiency 53	http://purl.obolibrary.org/obo/DOID_628	combined T cell and B cell immunodeficiency		A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in the RELB gene on chromosome 19q13.32.
http://purl.obolibrary.org/obo/DOID_0111993	immunodeficiency 55	http://purl.obolibrary.org/obo/DOID_0111962	combined immunodeficiency		A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the GINS1 gene on chromosome 20p11.21.
http://purl.obolibrary.org/obo/DOID_0111994	immunodeficiency 45	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease characterized by impaired control the replication of certain viruses and failure to develop an antiviral state in response to alpha-interferon or beta-interferon that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR2 gene on chromosome 21q22.11.
http://purl.obolibrary.org/obo/DOID_0111995	immunodeficiency 28	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR2 gene on chromosome 21q22.11.
http://purl.obolibrary.org/obo/DOID_0111996	immunodeficiency 51	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in the IL17RA gene on chromosome 22q11.1.
http://purl.obolibrary.org/obo/DOID_0111997	immunodeficiency 63	http://purl.obolibrary.org/obo/DOID_0080710	T cell and NK cell immunodeficiency		A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RB gene on chromosome 22q12.3.
http://purl.obolibrary.org/obo/DOID_0111998	immunodeficiency 66	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease characterized by onset in infancy of recurrent bacterial infections and defective immune cell migration and chemotaxis primarily in neutrophils although other cell types may also be affected that has_material_basis_in homozygous or compound heterozygous mutation in the MKL1 gene on chromosome 22q13.1-q13.2.
http://purl.obolibrary.org/obo/DOID_0111999	immunodeficiency 61	http://purl.obolibrary.org/obo/DOID_2115	B cell deficiency		A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that has_material_basis_in hemizygous mutation in the SH3KBP1 gene on chromosome Xp22.12.
http://purl.obolibrary.org/obo/DOID_0112000	immunodeficiency 34	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A phagocyte bactericidal dysfunction characterized by impaired respiratory burst in all types of phagocytes and increased susceptibility to infection by poorly virulent mycobacteria that has_material_basis_in hemizygous mutation in the CYBB gene on chromosome Xp21.1-p11.4.
http://purl.obolibrary.org/obo/DOID_0112001	immunodeficiency 50	http://purl.obolibrary.org/obo/DOID_0111962	combined immunodeficiency		A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12.
http://purl.obolibrary.org/obo/DOID_0112002	immunodeficiency 47	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in the ATP6AP1 gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0112003	immunodeficiency 33	http://purl.obolibrary.org/obo/DOID_0111962	combined immunodeficiency		A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in the IKBKG gene on chromosome Xq28.
http://purl.obolibrary.org/obo/DOID_0112004	immunodeficiency 71	http://purl.obolibrary.org/obo/DOID_0111962	combined immunodeficiency		A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygous or compound heterozygous mutation in the ARPC1B gene on chromosome 7q22.1.
http://purl.obolibrary.org/obo/DOID_0112005	immunodeficiency 70	http://purl.obolibrary.org/obo/DOID_628	combined T cell and B cell immunodeficiency		A combined T cell and B cell immunodeficiency characterized by decreased CD4+ T cells, decreased CD19+ B cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that has_material_basis_in heterozygous mutation in the IVNS1ABP gene on chromosome 1q25.3.
http://purl.obolibrary.org/obo/DOID_0112006	immunodeficiency 69	http://purl.obolibrary.org/obo/DOID_0080710	T cell and NK cell immunodeficiency		A T cell and NK cell immunodeficiency characterized by increased susceptibility to disseminated mycobacterial infection and failure of T and NK cells to produce gamma-interferon when stimulated in vitro that has_material_basis_in homozygous or compound heterozygous mutation in the IFNG gene on chromosome 12q15.
http://purl.obolibrary.org/obo/DOID_0112007	growth hormone secreting pituitary adenoma 2	http://purl.obolibrary.org/obo/DOID_6255	growth hormone secreting pituitary adenoma		A growth hormone secreting pituitary adenoma characterized by adult-onset sporadic acromegaly and somatic somatotropinoma that has_material_basis_in mutation in the GPR101 gene on chromosome Xq26.3.
http://purl.obolibrary.org/obo/DOID_0112008	pituitary adenoma 5	http://purl.obolibrary.org/obo/DOID_3829	pituitary adenoma		A pituitary adenoma characterized by development of different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in the CDH23 gene on chromosome 10q22.1.
http://purl.obolibrary.org/obo/DOID_0112009	pituitary adenoma 1	http://purl.obolibrary.org/obo/DOID_3829	pituitary adenoma		A pituitary adenoma characterized by different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in AIP on chromosome 11q13.2.
http://purl.obolibrary.org/obo/DOID_0112010	pituitary adenoma 3	http://purl.obolibrary.org/obo/DOID_3829	pituitary adenoma		A pituitary adenoma characterized by development of predominantly GH-secreting pituitary adenomas but also in some patients ACTH-secreting adenomas that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32.
http://purl.obolibrary.org/obo/DOID_0112011	mutilating palmoplantar keratoderma with periorificial keratotic plaques	http://purl.obolibrary.org/obo/DOID_161	keratosis		A keratosis characterized by a bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus of lesions.
http://purl.obolibrary.org/obo/DOID_0112012	X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques	http://purl.obolibrary.org/obo/DOID_0112011	mutilating palmoplantar keratoderma with periorificial keratotic plaques		A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12.
http://purl.obolibrary.org/obo/DOID_0112013	autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques	http://purl.obolibrary.org/obo/DOID_0112011	mutilating palmoplantar keratoderma with periorificial keratotic plaques		A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2.
http://purl.obolibrary.org/obo/DOID_0080766	erythrokeratodermia variabilis et progressiva 6	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		An erythrokeratodermia variabilis that is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces and that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0080767	autoimmune myocarditis	http://purl.obolibrary.org/obo/DOID_0060051	autoimmune disease of cardiovascular system		An autoimmune disease of cardiovascular system that is characterized by inflammation of the heart muscle.
http://purl.obolibrary.org/obo/DOID_0080768	pyridoxine-dependent epilepsy	http://purl.obolibrary.org/obo/DOID_1826	epilepsy		An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine.
http://purl.obolibrary.org/obo/DOID_0080769	early-onset vitamin B6-dependent epilepsy 1	http://purl.obolibrary.org/obo/DOID_0080768	pyridoxine-dependent epilepsy		A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23.
http://purl.obolibrary.org/obo/DOID_0080770	autosomal dominant beta thalassemia	http://purl.obolibrary.org/obo/DOID_12241	beta thalassemia		A beta thalassemia that has_material_basis_in one dominantly inherited mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia.
http://purl.obolibrary.org/obo/DOID_0080771	beta-thalassemia major	http://purl.obolibrary.org/obo/DOID_12241	beta thalassemia		A beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age.
http://purl.obolibrary.org/obo/DOID_0080772	beta-thalassemia intermedia	http://purl.obolibrary.org/obo/DOID_12241	beta thalassemia		A beta thalassemia that is characterized by mild to moderate anemia along with slow growth and bone abnormalities appearing in early childhood or later in life.
http://purl.obolibrary.org/obo/DOID_0080773	delta beta-thalassemia	http://purl.obolibrary.org/obo/DOID_12241	beta thalassemia		A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild.
http://purl.obolibrary.org/obo/DOID_0080774	thalassemia minor	http://purl.obolibrary.org/obo/DOID_12241	beta thalassemia		A beta thalassemia that has_material_basis_in one HBB gene mutation without typical thalassemia symptoms, but may have some symptoms of anemia.
http://purl.obolibrary.org/obo/DOID_0080775	complete androgen insensitivity syndrome	http://purl.obolibrary.org/obo/DOID_4674	androgen insensitivity syndrome		An androgen insensitivity syndrome that is characterized by complete androgen insensitivity as the body cannot use androgens at all, having the external sex characteristics of females but no uterus.
http://purl.obolibrary.org/obo/DOID_0080776	partial androgen insensitivity syndrome	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action.
http://purl.obolibrary.org/obo/DOID_0080777	lung sarcomatoid carcinoma	http://purl.obolibrary.org/obo/DOID_3905	lung carcinoma		A lung carcinoma that is characterized by the presence of a sarcomatoid component often associated with giant cell differentiation.
http://purl.obolibrary.org/obo/DOID_0080778	transient infantile liver failure	http://purl.obolibrary.org/obo/DOID_409	liver disease		A liver disease that is characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, and the presence of increased serum lactate and that has_material_basis_in homozygous or compound heterozygous mutation in the TRMU gene, which is involved in mitochondrial protein translation, on chromosome 22q13.
http://purl.obolibrary.org/obo/SYMP_0020013	abnormal weight loss	http://purl.obolibrary.org/obo/SYMP_0000178	weight loss		A weight loss that is characterized as deviating from what is normal or usual, typically in a way that is undesirable or worrying.
http://purl.obolibrary.org/obo/SYMP_0020014	chronic weight loss	http://purl.obolibrary.org/obo/SYMP_0000178	weight loss		A weight loss that is characterized by conditions that last 1 year or more and require ongoing medical attention, or limit activities of daily living, or both.
http://purl.obolibrary.org/obo/SYMP_0020016	acute weight gain	http://purl.obolibrary.org/obo/SYMP_0000403	weight gain		A weight gain that is characterized by a severe and sudden onset.
http://purl.obolibrary.org/obo/SYMP_0020017	chronic weight gain	http://purl.obolibrary.org/obo/SYMP_0000403	weight gain		A weight gain that is characterized by conditions that last 1 year or more and require ongoing medical attention, or limit activities of daily living, or both.
http://purl.obolibrary.org/obo/SYMP_0020018	overweight	http://purl.obolibrary.org/obo/SYMP_0020012	weight symptom		A weight symptom that is characterized by being too heavy for one’s height. Excess body weight can come from fat, muscle, bone, and/or water retention. Being overweight does not always mean being obese.
http://purl.obolibrary.org/obo/SYMP_0020019	postnasal drainage	http://purl.obolibrary.org/obo/SYMP_0000388	nose symptom		A nose symptom that is characterized by an an excessive secretion of mucous down the back of the throat.
http://purl.obolibrary.org/obo/DOID_0070568	spermatogenic failure 69	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by partial globozoospermia that has_material_basis_in homozygous mutation in the GGN on chromosome 19q13.2.
http://purl.obolibrary.org/obo/DOID_0060992	bent bone dysplasia syndrome 1	http://purl.obolibrary.org/obo/DOID_0080005	bone remodeling disease		A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.
http://purl.obolibrary.org/obo/DOID_0051000	autoinflammatory disease	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that is characterized by the activation of innate immune cells without an infection or injury being present, thus kickstarting the release of cytokines and other immune responses, causing fever and inflammation.
http://purl.obolibrary.org/obo/DOID_0061023	nonphotosensitive trichothiodystrophy 8	http://purl.obolibrary.org/obo/DOID_0111867	nonphotosensitive trichothiodystrophy		A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in compound heterozygous mutation in the AARS1 gene on chromosome 16q22.
http://purl.obolibrary.org/obo/DOID_0070635	cardiovascular-kidney-metabolic syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by multiorgan dysfunction and a high rate of adverse cardiovascular outcomes arising from the interconnection between cardiovascular disease, chronic kidney disease, and metabolic risk factors associated with diabetes and obesity.
http://purl.obolibrary.org/obo/SYMP_0000007	bleeding	http://purl.obolibrary.org/obo/SYMP_0000567	general symptom		A general symptom that is characterized as an act, instance, or result of being bled or the process by which something is bled: as a the escape of blood from vessels.
http://purl.obolibrary.org/obo/SYMP_0000009	blister	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by a fluid-filled elevation of the epidermis.
http://purl.obolibrary.org/obo/SYMP_0000022	depression	http://purl.obolibrary.org/obo/SYMP_0000410	neurological and physiological symptom		A neurological and physiological symptom that is characterized by a chronic feeling of emptiness, sadness, or inability to feel pleasure that may appear to happen for no clear reason.  Additionally one may experience feelings of hopelessness, pessimism, irritability, frustration, or restlessness, guilt, worthlessness and thoughts of death or suicide.
http://purl.obolibrary.org/obo/SYMP_0000025	dry cough	http://purl.obolibrary.org/obo/SYMP_0000614	cough		A cough that is characterized by a lack of accompanied phlegm production.
http://purl.obolibrary.org/obo/SYMP_0000040	hematuria	http://purl.obolibrary.org/obo/SYMP_0000486	urinary system symptom		A urinary system symptom that is characterized by the presence of blood or blood cells in the urine.
http://purl.obolibrary.org/obo/SYMP_0000056	hyperpigmentation	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by an excess pigmentation in a bodily part or tissue, as the skin.
http://purl.obolibrary.org/obo/SYMP_0000061	inflammation	http://purl.obolibrary.org/obo/SYMP_0000567	general symptom		Inflammation is a general symptom where there is a local response to cellular injury that is marked by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling, and often loss of function and that serves as a mechanism initiating the elimination of noxious agents and of damaged tissue.
http://purl.obolibrary.org/obo/SYMP_0000064	joint pain	http://purl.obolibrary.org/obo/SYMP_0000099	pain		A pain that is characterized by a pain situated, or occurring, in or around a joint.
http://purl.obolibrary.org/obo/SYMP_0000075	lethargy	http://purl.obolibrary.org/obo/SYMP_0019177	fatigue		A fatigue that is characterized by abnormal drowsiness.
http://purl.obolibrary.org/obo/SYMP_0000099	pain	http://purl.obolibrary.org/obo/SYMP_0000892	sensation perception		A sensation perception that is characterized by an unpleasant sensation that usually indicates the body is threatened or damaged. The sensation may be sharp or dull, short-lived or chronic, intermittent or continual, confined to one area or spread over the entire body.
http://purl.obolibrary.org/obo/SYMP_0000116	prostration	http://purl.obolibrary.org/obo/SYMP_0000567	general symptom		Prostration is a general symptom characterized by complete physical or mental exhaustion.
http://purl.obolibrary.org/obo/SYMP_0000131	severe joint pain	http://purl.obolibrary.org/obo/SYMP_0000064	joint pain		A joint pain that is characterized by a pain situated, or occurring, in or around a joint that is intense (severe).
http://purl.obolibrary.org/obo/SYMP_0000136	skin ulcer	http://purl.obolibrary.org/obo/SYMP_0000092	skin lesion		A skin lesion that is characterized by a break in skin with loss of surface tissue, disintegration and necrosis of epithelial tissue, and often pus.
http://purl.obolibrary.org/obo/SYMP_0000139	sneezing	http://purl.obolibrary.org/obo/SYMP_0000514	respiratory system and chest symptom		A respiratory system and chest symptom that is characterized by a sudden violent spasmodic audible expiration of breath through the nose and mouth especially as a reflex act following irritation of the nasal mucous membrane.
http://purl.obolibrary.org/obo/SYMP_0000178	weight loss	http://purl.obolibrary.org/obo/SYMP_0020012	weight symptom		A weight symptom that is characterized by a reduction of the total body mass, by a mean loss of fluid, body fat (adipose tissue), or lean mass (namely bone mineral deposits, muscle, tendon, and other connective tissue). Weight loss can either occur unintentionally because of malnourishment or an underlying disease.
http://purl.obolibrary.org/obo/SYMP_0000185	weariness	http://purl.obolibrary.org/obo/SYMP_0019177	fatigue		A fatigue that is characterized by a feeling of exhaustion in strength, endurance, and vigor.
http://purl.obolibrary.org/obo/SYMP_0000186	exhaustion	http://purl.obolibrary.org/obo/SYMP_0019177	fatigue		A fatigue that is characterized by a feeling of weariness (bodily or mental) or feeling of weakness.  Exhaustion is a shorter-lived form of fatigue that can be experienced emotionally, mentally, and physically.
http://purl.obolibrary.org/obo/SYMP_0000187	tiredness	http://purl.obolibrary.org/obo/SYMP_0019177	fatigue		A fatigue that is characterized by a feeling of a lessened capacity for work and reduced efficiency of accomplishment, usually accompanied by a sense of weariness and fatigue.
http://purl.obolibrary.org/obo/SYMP_0000197	abortion	http://purl.obolibrary.org/obo/SYMP_0000196	reproductive system symptom		A reproductive system symptom that is characterized by the expulsion of a fetus at any time before completion of pregnancy and is often due to infection.
http://purl.obolibrary.org/obo/SYMP_0000198	miscarriage	http://purl.obolibrary.org/obo/SYMP_0000196	reproductive system symptom		A reproductive system symptom that is characterized by the spontaneous expulsion of a human fetus before it is viable and especially between the 12th and 28th weeks of gestation.
http://purl.obolibrary.org/obo/SYMP_0000199	spontaneous abortion	http://purl.obolibrary.org/obo/SYMP_0000197	abortion		An abortion that is characterized by the natural occurring expulsion of a nonviable fetus.
http://purl.obolibrary.org/obo/SYMP_0000207	afebrile	http://purl.obolibrary.org/obo/SYMP_0000613	fever		A fever that is characterized by the state of being free from fever.
http://purl.obolibrary.org/obo/SYMP_0000235	colic	http://purl.obolibrary.org/obo/SYMP_0000099	pain		A pain that is characterized by the condition marked by recurrent episodes of prolonged and uncontrollable crying and irritability in an otherwise healthy infant that is of unknown cause and usually subsides after three to four months of age.
http://purl.obolibrary.org/obo/SYMP_0000237	congestion	http://purl.obolibrary.org/obo/SYMP_0000514	respiratory system and chest symptom		A respiratory system and chest symptom that is characterized by an excessive accumulation especially of blood or mucus.
http://purl.obolibrary.org/obo/SYMP_0000243	cyclic fever	http://purl.obolibrary.org/obo/SYMP_0000613	fever		A fever that is characterized by occurring during periodic episodes.
http://purl.obolibrary.org/obo/SYMP_0000263	epididymitis	http://purl.obolibrary.org/obo/SYMP_0000196	reproductive system symptom		A reproductive system symptom that is characterized by an inflammation of the epididymis.
http://purl.obolibrary.org/obo/SYMP_0000264	epididymorchitis	http://purl.obolibrary.org/obo/SYMP_0000196	reproductive system symptom		A reproductive system symptom that is characterized by inflammation of the epididymis and/or testicle (testis).
http://purl.obolibrary.org/obo/SYMP_0000279	extreme exhaustion	http://purl.obolibrary.org/obo/SYMP_0000186	exhaustion		An exhaustion that is characterized by exceeding the ordinary, usual, or expected.
http://purl.obolibrary.org/obo/SYMP_0000280	extreme fatigue	http://purl.obolibrary.org/obo/SYMP_0019177	fatigue		A fatigue that is characterized by exceeding the ordinary, usual, or expected.
http://purl.obolibrary.org/obo/SYMP_0000324	bronchitis	http://purl.obolibrary.org/obo/SYMP_0000514	respiratory system and chest symptom		A respiratory system and chest symptom that is characterized by an acute or chronic inflammation of the bronchial tubes.
http://purl.obolibrary.org/obo/SYMP_0000358	premature labor	http://purl.obolibrary.org/obo/SYMP_0000196	reproductive system symptom		A reproductive system symptom that is characterized by labor occurring before 37 full weeks of pregnancy.
http://purl.obolibrary.org/obo/SYMP_0000372	rhinorrhea	http://purl.obolibrary.org/obo/SYMP_0000388	nose symptom		A nose symptom that is characterized by an excessive secretion of mucous through the nose.
http://purl.obolibrary.org/obo/SYMP_0000398	vaginal discharge	http://purl.obolibrary.org/obo/SYMP_0000196	reproductive system symptom		A reproductive system symptom that is characterized by fluid made by glands inside the vagina and cervix carrying away dead cells and bacteria. While it is normal for odor and color to vary, vaginal itching or burning may be indicative of an infection.
http://purl.obolibrary.org/obo/SYMP_0000403	weight gain	http://purl.obolibrary.org/obo/SYMP_0020012	weight symptom		A weight symptom that is characterized by an increase in body weight. This can involve an increase in muscle mass, fat deposits, excess fluids such as water or other factors.
http://purl.obolibrary.org/obo/SYMP_0000405	vaginismus	http://purl.obolibrary.org/obo/SYMP_0000196	reproductive system symptom		A reproductive system symptom that is characterized by a painful spasmodic contraction of the vagina.
http://purl.obolibrary.org/obo/SYMP_0000406	bruise	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by an injury transmitted through unbroken skin to underlying tissue causing rupture of small blood vessels and escape of blood into the tissue with resulting discoloration.
http://purl.obolibrary.org/obo/SYMP_0000407	syncope	http://purl.obolibrary.org/obo/SYMP_0000482	alteration of consciousness		An alteration of consciousness that is characterized by a loss of consciousness resulting from insufficient blood flow to the brain.
http://purl.obolibrary.org/obo/SYMP_0000409	hyperthermia	http://purl.obolibrary.org/obo/SYMP_0000882	high fever		A high fever that is characterized by an exceptionally high fever especially when induced artificially for therapeutic purposes.
http://purl.obolibrary.org/obo/SYMP_0000412	anxiety	http://purl.obolibrary.org/obo/SYMP_0000410	neurological and physiological symptom		A neurological and physiological symptom that is characterized by a painful or apprehensive uneasiness of mind usually over an impending or anticipated ill.
http://purl.obolibrary.org/obo/SYMP_0000422	dyspepsia	http://purl.obolibrary.org/obo/SYMP_0000459	digestive system symptom		Dyspepsia is a digestive system symptom referred to as indigestion resulting from an impairment to digestion caused by ulcer, gall bladder disease or inflamed colon. Related symptoms include weakness, loss of appetite, and depression.
http://purl.obolibrary.org/obo/SYMP_0000434	urticaria	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by raised red skin wheals (welts) commonly caused by an allergic reaction with wheals that may vary in size from about 5 mm (0.2 inches) in diameter to the size of a dinner plate that are described as severely itchy a stingnig or burning sensation, and having a pale border.
http://purl.obolibrary.org/obo/SYMP_0000436	abnormal vaginal bleeding	http://purl.obolibrary.org/obo/SYMP_0000196	reproductive system symptom		A reproductive system symptom that is characterized by bleeding from the uterus that is longer than usual or that occurs at an irregular time. Bleeding may be heavier or lighter than usual and occur often or randomly.
http://purl.obolibrary.org/obo/SYMP_0000440	hair loss	http://purl.obolibrary.org/obo/SYMP_0020040	hair symptom		A hair symptom that is characterized by the stopping of hair growth (regeneration), which may be a result of hereditary hair loss, immune system overreacts, drugs and treatments, harsh hair-care products, and other factors.
http://purl.obolibrary.org/obo/SYMP_0000441	elbow pain	http://purl.obolibrary.org/obo/SYMP_0000064	joint pain		A joint pain that is characterized by a pain situated, or occurring, in or around the elbow.
http://purl.obolibrary.org/obo/SYMP_0000442	knee pain	http://purl.obolibrary.org/obo/SYMP_0000064	joint pain		A joint pain that is characterized by a pain situated, or occurring, in or around the knee.
http://purl.obolibrary.org/obo/SYMP_0000443	shoulder pain	http://purl.obolibrary.org/obo/SYMP_0000064	joint pain		A joint pain that is characterized by a pain situated, or occurring, in or around the shoulder.
http://purl.obolibrary.org/obo/SYMP_0000448	epistaxis	http://purl.obolibrary.org/obo/SYMP_0000388	nose symptom		A nose symptom that involves a is loss of blood from the tissue lining the nose.
http://purl.obolibrary.org/obo/SYMP_0000455	abnormal weight gain	http://purl.obolibrary.org/obo/SYMP_0000403	weight gain		A weight gain that is characterized as deviating from what is normal or usual, typically in a way that is undesirable or worrying.
http://purl.obolibrary.org/obo/SYMP_0000457	abdominal pain	http://purl.obolibrary.org/obo/SYMP_0000099	pain		A pain that is characterized by occurring in the abdomen, i.e. between the chest and groin.
http://purl.obolibrary.org/obo/SYMP_0000458	nausea	http://purl.obolibrary.org/obo/SYMP_0000459	digestive system symptom		Nausea is a digestive system symptom characterized by an uneasy or unsettled feeling in the stomach together with an urge to vomit.
http://purl.obolibrary.org/obo/SYMP_0000475	underweight	http://purl.obolibrary.org/obo/SYMP_0020012	weight symptom		A weight symptom that is characterized by weighing less than the normal amount for one's age, height, and build.
http://purl.obolibrary.org/obo/SYMP_0000485	dysuria	http://purl.obolibrary.org/obo/SYMP_0000486	urinary system symptom		A urinary system symptom that is characterized by the difficult, or painful, discharge of urine.
http://purl.obolibrary.org/obo/SYMP_0000487	rash	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by an eruption on the body typically with little or no elevation above the surface.
http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom	http://purl.obolibrary.org/obo/SYMP_0000462	symptom		A skin and integumentary tissue symptom that is characterized by the outer layer of the skin starting to replace itself. Often, this happens when skin is damaged, either by disease or injury.
http://purl.obolibrary.org/obo/SYMP_0000492	urinary incontinence	http://purl.obolibrary.org/obo/SYMP_0000486	urinary system symptom		A urinary system symptom that is characterized by the an inability of the body to control the evacuative functions.
http://purl.obolibrary.org/obo/SYMP_0000494	renal colic	http://purl.obolibrary.org/obo/SYMP_0000235	colic		A colic that is characterized by a severe pain produced by the passage of a calculus from the kidney through the ureter.
http://purl.obolibrary.org/obo/SYMP_0000504	headache	http://purl.obolibrary.org/obo/SYMP_0000099	pain		A pain that is characterized by a pain in the head.
http://purl.obolibrary.org/obo/SYMP_0000517	hemoptysis	http://purl.obolibrary.org/obo/SYMP_0000514	respiratory system and chest symptom		A respiratory system and chest symptom that is characterized by an expectoration of blood from some part of the respiratory tract.
http://purl.obolibrary.org/obo/SYMP_0000518	generalized abdominal pain	http://purl.obolibrary.org/obo/SYMP_0000457	abdominal pain		An abdominal pain that is characterized by being diffuse or widespread and affecting or involving all of the abdomen.
http://purl.obolibrary.org/obo/SYMP_0000530	palpitation	http://purl.obolibrary.org/obo/SYMP_0000528	cardiovascular system symptom		Palpitation is a cardiovascykar system symptom characterized by an abnormal awareness of the beating of the heart,whether it is too slow, too fast, irregular, or at its normal frequency when excited by violent exertion, strong emotion, or disease.
http://purl.obolibrary.org/obo/SYMP_0000542	epigastric abdominal pain	http://purl.obolibrary.org/obo/SYMP_0000457	abdominal pain		An abdominal pain that is characterized by occurring in the epigastrium, i.e. the upper part of the abdomen below the rib cage.
http://purl.obolibrary.org/obo/SYMP_0000543	memory loss	http://purl.obolibrary.org/obo/SYMP_0000410	neurological and physiological symptom		A neurological and physiological symptom that is characterized by an unusual forgetfulness. One may not be able to remember new events, recall one or more memories of the past, or both.  Memory loss may be for a short time and then resolve (transient), or it may not go away and get worse over time.
http://purl.obolibrary.org/obo/SYMP_0000570	diarrhea	http://purl.obolibrary.org/obo/SYMP_0000146	feces and droppings symptom		Diarrhea is a feces and droppng symptom involving the abnormally frequent intestinal evacuations with more or less fluid stools.
http://purl.obolibrary.org/obo/SYMP_0000587	abnormal chest sound	http://purl.obolibrary.org/obo/SYMP_0000514	respiratory system and chest symptom		A respiratory system and chest symptom that is characterized by a sound of breathing that is not similar to that of the sound of moving air and may include: rhonchi (a low-pitched breath sound), crackles (a high-pitched breath sound), wheezing (a high-pitched whistling sound caused by narrowing of the bronchial tubes), and stridor (a harsh, vibratory sound caused by narrowing of the upper airway).
http://purl.obolibrary.org/obo/SYMP_0000596	convulsion	http://purl.obolibrary.org/obo/SYMP_0000480	nervous system symptom		A nervous system symptom that is characterized by an abnormal violent and involuntary contraction or series of contractions of the muscles.
http://purl.obolibrary.org/obo/SYMP_0000602	orthopnea	http://purl.obolibrary.org/obo/SYMP_0000598	respiratory abnormality		A respiratory abnormality that is characterized by a difficulty in breathing that occurs when lying down and is relieved upon changing to an upright position (as in congestive heart failure).
http://purl.obolibrary.org/obo/SYMP_0000604	wheezing	http://purl.obolibrary.org/obo/SYMP_0000587	abnormal chest sound		An abnormal chest sound that is characterized by breathing with difficulty usually with a whistling sound.
http://purl.obolibrary.org/obo/SYMP_0000613	fever	http://purl.obolibrary.org/obo/SYMP_0000410	neurological and physiological symptom		A neurological and physiological symptom that is characterized by a rise of body temperature above the normal, whether as a natural response (as to infection) or artificially induced for therapeutic reasons.
http://purl.obolibrary.org/obo/SYMP_0000614	cough	http://purl.obolibrary.org/obo/SYMP_0000514	respiratory system and chest symptom		A respiratory system and chest symptom that is characterized by an explosive expulsion of air from the lungs acting as a protective mechanism to clear the air passages or as a symptom of pulmonary disturbance.
http://purl.obolibrary.org/obo/SYMP_0000632	hip pain	http://purl.obolibrary.org/obo/SYMP_0000064	joint pain		A joint pain that is characterized by a pain situated, or occurring, in or around the hip.
http://purl.obolibrary.org/obo/SYMP_0000675	acute diarrhea	http://purl.obolibrary.org/obo/SYMP_0000570	diarrhea		Acute diarrhea is a diarrhea with either or both a rapid onset or a short course.
http://purl.obolibrary.org/obo/SYMP_0000679	acute dyspnea	http://purl.obolibrary.org/obo/SYMP_0019153	dyspnea		A dyspnea that is characterized by a severe and sudden onset.
http://purl.obolibrary.org/obo/SYMP_0000680	acute weight loss	http://purl.obolibrary.org/obo/SYMP_0000178	weight loss		A weight loss that is characterized by a severe and sudden onset.
http://purl.obolibrary.org/obo/SYMP_0000686	chronic cough	http://purl.obolibrary.org/obo/SYMP_0000614	cough		A cough that is characterized by an explosive expulsion of air from the lungs acting as a protective mechanism to clear the air passages or as a symptom of pulmonary disturbance marked by long duration, by frequent recurrence over a long time, and often by slowly progressing seriousness.
http://purl.obolibrary.org/obo/SYMP_0000712	infertility	http://purl.obolibrary.org/obo/SYMP_0000196	reproductive system symptom		A reproductive system symptom that is characterized the biological inability of a man or a woman to contribute to conception; or, the state of a woman who is unable to carry a pregnancy to full term.
http://purl.obolibrary.org/obo/SYMP_0000742	gum bleeding	http://purl.obolibrary.org/obo/SYMP_0000655	mouth bleeding		Gum bleeding is a mouth symptom characterized by a copious discharge of blood from the blood vessels of the mucosal tissue that lies over the alveolar bone.
http://purl.obolibrary.org/obo/SYMP_0000756	menorrhagia	http://purl.obolibrary.org/obo/SYMP_0000196	reproductive system symptom		A reproductive system symptom that is characterized an abnormally profuse menstrual flow.
http://purl.obolibrary.org/obo/SYMP_0000828	sore eyes	http://purl.obolibrary.org/obo/SYMP_0019163	eye symptom		Sore eyes is a eye symptom characterized by an inflammation of the thin covering of the eyeball and the inner eyelid brought about by a viral infection which may be highly contagious.
http://purl.obolibrary.org/obo/SYMP_0000849	stillbirth	http://purl.obolibrary.org/obo/SYMP_0000196	reproductive system symptom		A reproductive system symptom that is characterized by the birth of a dead fetus; in which  a fetus that has died in the uterus, or during labor, or delivery, exits a woman's body.
http://purl.obolibrary.org/obo/SYMP_0000854	hypermenorrhea	http://purl.obolibrary.org/obo/SYMP_0000756	menorrhagia		A menorrhagia that is characterized by an abnormally profuse or prolonged menstrual flow.
http://purl.obolibrary.org/obo/SYMP_0000855	metrorrhagia	http://purl.obolibrary.org/obo/SYMP_0000756	menorrhagia		A menorrhagia that is characterized by an irregular uterine bleeding, especially between menstrual periods.
http://purl.obolibrary.org/obo/SYMP_0000868	breathing problems	http://purl.obolibrary.org/obo/SYMP_0000598	respiratory abnormality		A respiratory abnormality that is characterized by a shortness of breath, a hard or uncomfortable intake of air, or the feeling that you're not getting enough air.
http://purl.obolibrary.org/obo/SYMP_0000869	nasal congestion	http://purl.obolibrary.org/obo/SYMP_0000237	congestion		A congestion that is characterized by a blockage of the nasal passages, usually due to the membranes lining the nose becoming swollen from inflamed blood vessels.
http://purl.obolibrary.org/obo/SYMP_0000870	icteric eyes	http://purl.obolibrary.org/obo/SYMP_0019163	eye symptom		Icteric eyes is a eye symptom characterized by yellowed eyes due to bile or bilirubin accumulation.
http://purl.obolibrary.org/obo/SYMP_0000873	otitis	http://purl.obolibrary.org/obo/SYMP_0000392	ear symptom		Otitis is a ear symptom characterized as a general term for inflammation or infection of the ear, in both humans and other animals.
http://purl.obolibrary.org/obo/SYMP_0000878	transient fever	http://purl.obolibrary.org/obo/SYMP_0000613	fever		A fever that is characterized by a rise of body temperature above the normal that is sustained for only a short period of time.
http://purl.obolibrary.org/obo/SYMP_0000879	low-grade fever	http://purl.obolibrary.org/obo/SYMP_0000881	mild fever		A mild fever that is characterized by a fever that does not exceed 38.5 degrees Celsius (101.3 degrees Fahrenheit).
http://purl.obolibrary.org/obo/SYMP_0000880	prolonged fever	http://purl.obolibrary.org/obo/SYMP_0000613	fever		A fever that is characterized by as  persisting over a prolonged period of time.
http://purl.obolibrary.org/obo/SYMP_0000881	mild fever	http://purl.obolibrary.org/obo/SYMP_0000613	fever		A fever that is characterized by being mild in form.
http://purl.obolibrary.org/obo/SYMP_0000882	high fever	http://purl.obolibrary.org/obo/SYMP_0000613	fever		A fever that is characterized by an elevated temperature.
http://purl.obolibrary.org/obo/SYMP_0000883	very high fever	http://purl.obolibrary.org/obo/SYMP_0000882	high fever		A high fever that is characterized by extremely high temperatures.
http://purl.obolibrary.org/obo/SYMP_0000886	hyperpyrexia	http://purl.obolibrary.org/obo/SYMP_0000613	fever		A fever that is characterized by an extreme elevation of body temperature greater than, or equal to, 41.5 degrees Celsius (106.7 degrees Fahrenheit).
http://purl.obolibrary.org/obo/SYMP_0000887	Pel-Epstein fever	http://purl.obolibrary.org/obo/SYMP_0000613	fever		A fever that is characterized by association with Hodgkin's lymphoma, where the fever alternates weekly from high to low.
http://purl.obolibrary.org/obo/SYMP_0000888	continuous fever	http://purl.obolibrary.org/obo/SYMP_0000613	fever		A fever that is characterized by a temperature remaining above normal throughout the day and which does not fluctuate more than 1 degree Celsius in 24 hours.
http://purl.obolibrary.org/obo/SYMP_0000889	remittent fever	http://purl.obolibrary.org/obo/SYMP_0000613	fever		A fever that is characterized by a fever where the temperature remains above normal throughout the day and fluctuates more than 1 degree Celsius in 24 hours.
http://purl.obolibrary.org/obo/SYMP_0000890	relapsing fever	http://purl.obolibrary.org/obo/SYMP_0000613	fever		A fever that is characterized by  body temperature periodically rising and falling.
http://purl.obolibrary.org/obo/SYMP_0000892	sensation perception	http://purl.obolibrary.org/obo/SYMP_0000480	nervous system symptom		A nervous system symptom that is characterized by interpretation of the information perceived by sensory receptors.
http://purl.obolibrary.org/obo/SYMP_0019145	vomiting	http://purl.obolibrary.org/obo/SYMP_0000459	digestive system symptom		Vomiting is a digestive system symptom characterized by throwing up the stomach contents.
http://purl.obolibrary.org/obo/SYMP_0019153	dyspnea	http://purl.obolibrary.org/obo/SYMP_0000598	respiratory abnormality		A respiratory abnormality that is characterized by difficult or labored respiration.
http://purl.obolibrary.org/obo/SYMP_0019161	muscle pain	http://purl.obolibrary.org/obo/SYMP_0000099	pain		A pain that is characterized by a pain in one or more muscles.
http://purl.obolibrary.org/obo/SYMP_0019177	fatigue	http://purl.obolibrary.org/obo/SYMP_0000410	neurological and physiological symptom		A neurological and physiological symptom that is characterized by a weariness or exhaustion from labor, exertion, or stress.
http://purl.obolibrary.org/obo/SYMP_0019180	constipation	http://purl.obolibrary.org/obo/SYMP_0000146	feces and droppings symptom		Constipation is a feces and droppings symptom involving the abnormally delayed or infrequent passage of dry hardened feces. Constipation may be categorized into three subtypes: normal-transit, slow-transit, and pelvic floor dysfunction.
http://purl.obolibrary.org/obo/SYMP_0000023	disorientation	http://purl.obolibrary.org/obo/SYMP_0000016	confusion		A confusion that is characterized by an usually transient state of confusion especially as to time, place, or identity; often as a result of disease or drugs.
http://purl.obolibrary.org/obo/NCIT_C44357	Chromium Hexavalent Compound	http://purl.obolibrary.org/obo/DISDRIV_0000006	chemical driver		A highly corrosive, inorganic substance that contains the metallic element chromium in its positive-6 valence state. Chromium hexavalent compounds are used in stainless steel production, in chrome plating, in the manufacture of dyes and pigments, in leather tanning, in wood preservation and are used as corrosion inhibitors. Inhalation exposure of these compounds mainly affects the respiratory tract causing shortness of breath, nasal itching, asthma, coughing, bronchitis and pneumonia, but can also affect the liver, kidneys, gastrointestinal tract and the immune system. Chromium hexavalent compounds are carcinogenic in humans and are associated with an increased risk of developing lung cancer and cancer of the sinonasal cavity.
http://purl.obolibrary.org/obo/DOID_0080525	differentiated high-grade thyroid carcinoma	http://purl.obolibrary.org/obo/DOID_0080524	thyroid gland adenocarcinoma		A thyroid gland adenocarcinoma characterized by extensive evidence of follicular cell differentiation.
http://purl.obolibrary.org/obo/DOID_0111962	combined immunodeficiency	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that involves multiple components of the immune system.
http://purl.obolibrary.org/obo/DOID_0080827	human cytomegalovirus infection	http://purl.obolibrary.org/obo/DOID_934	viral infectious disease		A viral infectious disease that has_material_basis_in Human betaherpesvirus 5 (Cytomegalovirus humanbeta5).
http://purl.obolibrary.org/obo/DOID_0080828	VEXAS syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles in myeloid cells and that has_material_basis_in mutation in the UBA1 gene on chromosome Xp11.
http://purl.obolibrary.org/obo/DOID_0080829	low grade glioma	http://purl.obolibrary.org/obo/DOID_936	brain disease		A cell type benign neoplasm that has_material_basis_in glial cells (astrocytes, oligodendrocytes or ependymocytes).
http://purl.obolibrary.org/obo/DOID_0080830	childhood low-grade glioma	http://purl.obolibrary.org/obo/DOID_0080829	low grade glioma		A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology.
http://purl.obolibrary.org/obo/DOID_0080932	primary localized cutaneous amyloidosis 3	http://purl.obolibrary.org/obo/DOID_0050639	primary cutaneous amyloidosis		A primary cutaneous amyloidosis that is characterized by deposits of keratinocyte-derived amyloid in the skin and that has_material_basis_in homozygous or compound heterozygous mutation in the GPNMB gene on chromosome 7p15. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions.
http://purl.obolibrary.org/obo/DOID_0112247	congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by congenital heart defects, dysmorphic facial features, and impaired intellectual developmental that has_material_basis_in heterozygous mutation in the CDK13 gene on chromosome 7p14.1.
http://purl.obolibrary.org/obo/DOID_0112367	Coffin-Siris syndrome 8	http://purl.obolibrary.org/obo/DOID_1925	Coffin-Siris syndrome		A Coffin-Siris syndrome characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities and variable occurence of other dysmophic features that has_material_basis_in heterozygous mutation in the SMARCC2 gene on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0112368	Coffin-Siris syndrome 5	http://purl.obolibrary.org/obo/DOID_1925	Coffin-Siris syndrome		A Coffin-Siris syndrome characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit that has_material_basis_in heterozygous mutation in the SMARCE1 gene on chromosome 17q21.2.
http://purl.obolibrary.org/obo/DOID_0112369	Coffin-Siris syndrome 7	http://purl.obolibrary.org/obo/DOID_1925	Coffin-Siris syndrome		A Coffin-Siris syndrome characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails that has_material_basis_in heterozygous mutation in the DPF2 gene on chromosome 11q13.1.
http://purl.obolibrary.org/obo/DOID_0112370	Coffin-Siris syndrome 12	http://purl.obolibrary.org/obo/DOID_1925	Coffin-Siris syndrome		A Coffin-Siris syndrome characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity that has_material_basis_in heterozygous mutation in the BICRA gene on chromosome 19q13.33.
http://purl.obolibrary.org/obo/DOID_0112371	Coffin-Siris syndrome 10	http://purl.obolibrary.org/obo/DOID_1925	Coffin-Siris syndrome		A Coffin-Siris syndrome characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature that has_material_basis_in heterozygous mutation in the SOX4 gene on chromosome 6p22.3.
http://purl.obolibrary.org/obo/DOID_0112372	Coffin-Siris syndrome 11	http://purl.obolibrary.org/obo/DOID_1925	Coffin-Siris syndrome		A Coffin-Siris syndrome characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features that has_material_basis_in heterozygous mutation in the SMARCD1 gene on chromosome 12q13.12.
http://purl.obolibrary.org/obo/DOID_0112373	autosomal dominant auditory neuropathy 3	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound, preservation of outer hair cell function and abnormal or absent auditory brainstem responses and that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25.1.
http://purl.obolibrary.org/obo/DOID_0112376	muscular dystrophy-dystroglycanopathy type B15	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the DPM3 gene on chromosome 1q22.
http://purl.obolibrary.org/obo/DOID_0112377	muscular dystrophy-dystroglycanopathy type B14	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene on chromosome 3p21.31.
http://purl.obolibrary.org/obo/DOID_0112378	muscular dystrophy-dystroglycanopathy type B3	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.1.
http://purl.obolibrary.org/obo/DOID_0112379	muscular dystrophy-dystroglycanopathy type B4	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2.
http://purl.obolibrary.org/obo/DOID_0112380	muscular dystrophy-dystroglycanopathy type B2	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3.
http://purl.obolibrary.org/obo/DOID_0112381	muscular dystrophy-dystroglycanopathy type C12	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the POMK gene on chromosome 8p11.21.
http://purl.obolibrary.org/obo/DOID_0112382	muscular dystrophy-dystroglycanopathy type C8	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1.
http://purl.obolibrary.org/obo/DOID_0112383	KINSSHIP syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has_material_basis_in heterozygous mutation in the AFF3 gene on chromosome 2q11.2.
http://purl.obolibrary.org/obo/SYMP_0020053	mammary gland inflammation	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		A skin and integumentary tissue symptom that is characterized by an inflammation of the mammary gland or udder and usually caused by infection.
http://purl.obolibrary.org/obo/SYMP_0020054	severe mammary gland inflammation	http://purl.obolibrary.org/obo/SYMP_0020053	mammary gland inflammation		A mammary gland inflammation that is characterized by an increased intensity or severity of the condition.
http://purl.obolibrary.org/obo/SYMP_0020056	cerebrovascular accident	http://purl.obolibrary.org/obo/SYMP_0000480	nervous system symptom		A nervous system symptom that is characterized by a loss of blood flow to part of the brain, which damages brain tissue. Cerebrovascular accidents are caused by blood clots and broken blood vessels in the brain.
http://purl.obolibrary.org/obo/SYMP_0020057	bronchiole inflammation	http://purl.obolibrary.org/obo/SYMP_0000514	respiratory system and chest symptom		A respiratory system and chest symptom that is characterized by acute inflammation of the bronchi, accompanied by inflamed patches in the nearby lobules of the lungs.
http://purl.obolibrary.org/obo/DOID_0081335	Becker disease	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34.
http://purl.obolibrary.org/obo/DOID_0081424	familial focal epilepsy with variable foci 4	http://purl.obolibrary.org/obo/DOID_0081420	familial focal epilepsy with variable foci		A familial focal epilepsy with variable foci that is characterized by onset of focal seizures in the first years of life and that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24.
http://purl.obolibrary.org/obo/DOID_0070532	aniridia 1	http://purl.obolibrary.org/obo/DOID_12271	aniridia		An aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common.
http://purl.obolibrary.org/obo/DOID_0070519	early-onset vitamin B6-dependent epilepsy 4	http://purl.obolibrary.org/obo/DOID_0080768	pyridoxine-dependent epilepsy		A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2.
http://purl.obolibrary.org/obo/DOID_0081404	BCOR-CCNB3 sarcoma	http://purl.obolibrary.org/obo/DOID_0081402	sarcoma with BCOR genetic alterations		A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR-CCNB3 fusion gene.
http://purl.obolibrary.org/obo/DOID_0060930	developmental dysplasia of the hip	http://purl.obolibrary.org/obo/DOID_0080006	bone development disease		A bone development disease characterized by abnormality of the seating of the femoral head in the acetabulum.
http://purl.obolibrary.org/obo/DOID_0060949	3-hydroxyisobutryl-CoA hydrolase deficiency	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An amino acid metabolic disorder characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32.
http://purl.obolibrary.org/obo/DOID_0060952	polycystic kidney disease 7	http://purl.obolibrary.org/obo/DOID_898	autosomal dominant polycystic kidney disease		A autosomal dominant polycystic kidney disease characterized by the development of small kidney cysts and renal interstitial fibrosis causing adult-onset progressive loss of kidney function leading to end-stage kidney disease after around 60 years of age that has_material_basis_in heterozygous mutation in the ALG5 gene on chromosome 13q13.
http://purl.obolibrary.org/obo/DOID_0060954	Holoprosencephaly 13, X-linked	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A holoprosencephaly characterized by midline developmental defects that mainly affect the brain and craniofacial structure that has_material_basis_in heterozygous mutation in the STAG2 gene on chromosome Xq25.
http://purl.obolibrary.org/obo/DOID_0060964	Loeys-Dietz syndrome 6	http://purl.obolibrary.org/obo/DOID_0050466	Loeys-Dietz syndrome		A Loeys-Dietz syndrome characterized by aortic/arterial aneurysm and dissection in association with connective tissue findings that has_material_basis_in heterozygous mutation in the SMAD2 gene (601366) on chromosome 18q21.
http://purl.obolibrary.org/obo/DOID_0060965	episodic ataxia type 9	http://purl.obolibrary.org/obo/DOID_963	episodic ataxia		An episodic ataxia that is characterized by onset of ataxic episodes in the first years of life that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q23.
http://purl.obolibrary.org/obo/DOID_0060969	galactosemia 4	http://purl.obolibrary.org/obo/DOID_9870	galactosemia		A galactosemia characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase that has_material_basis_in homozygous or compound heterozygous mutation in the GALM gene on chromosome 2p22.
http://purl.obolibrary.org/obo/DOID_0070543	neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities	http://purl.obolibrary.org/obo/DOID_9252	amino acid metabolic disorder		An mitochondrial metabolism disease characterized by global neurodevelopmental delay, severely impaired intellectual development, poor overall growth, spasticity of the lower limbs resulting in gait difficulties, and progressive hypertrophic cardiomyopathy or cardiac developmental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SHMT2 gene on chromosome 12q13.3.
http://purl.obolibrary.org/obo/DOID_0060972	renal hypomagnesemia 7, with or without dilated cardiomyopathy	http://purl.obolibrary.org/obo/DOID_0060879	primary hypomagnesemia		A hypomagnesemia characterized by renal salt wasting resulting in hypomagnesemia with secondary effects such as hypokalemia or hypocalcemia that has_material_basis_in heterozygous mutation in the RRAGD gene on chromosome 6q15.
http://purl.obolibrary.org/obo/DOID_0070576	spermatogenic failure 77	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure characterized by extreme oligozoospermia or azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP6 gene on chromosome 7q11.23.
http://purl.obolibrary.org/obo/DOID_0070613	familial renal glucosuria	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A renal glycosuria that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the SLC5A2 gene on chromosome 16p11.2.
http://purl.obolibrary.org/obo/DOID_0070606	autosomal dominant nonsyndromic deafness 87	http://purl.obolibrary.org/obo/DOID_0050564	autosomal dominant nonsyndromic deafness		An autosomal dominant nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct that has_material_basis_in heterozygous mutation in the PI4KB gene on chromosome 1q21.
http://purl.obolibrary.org/obo/DOID_0051004	congenital nonspherocytic hemolytic anemia 3	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the AK1 gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0051054	coarctation of the aorta	http://purl.obolibrary.org/obo/DOID_1682	congenital heart disease		A congenital heart disease that is characterized by the luminal narrowing of the thoracic aortic arch, typically located just beyond the left subclavian artery. This narrowing creates an obstruction that can lead to significant cardiovascular complications, including systemic hypertension, left ventricular hypertrophy, and eventually heart failure.
http://purl.obolibrary.org/obo/DOID_0051056	immunodeficiency 113	http://purl.obolibrary.org/obo/DOID_612	primary immunodeficiency disease		A primary immunodeficiency disease that is characterized by recurrent infections and usually show features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants, and that has_material_basis_in homozygous mutation in the ARPC5 gene on chromosome 1q25.
http://purl.obolibrary.org/obo/DOID_0051057	avoidant/restrictive food intake disorder	http://purl.obolibrary.org/obo/DOID_8670	eating disorder		An eating disorder that is characterized by a persistent pattern of avoidant or selective eating that fails to meet nutritional needs and results in significant nutritional deficiency or weight loss.
http://purl.obolibrary.org/obo/DOID_0051058	acute calcific periarthritis	http://purl.obolibrary.org/obo/DOID_2964	periarthritis		A periarthritis that is characterized by the juxta-articular deposition of calcium hydroxyapatite crystals and local inflammation.
http://purl.obolibrary.org/obo/DOID_0051059	autosomal recessive Segawa syndrome	http://purl.obolibrary.org/obo/DOID_543	dystonia		A dystonia that is characterized by onset in infancy of dopa-responsive dystonia and that has_material_basis_in homozygous or compound heterozygous mutation in the tyrosine hydroxylase gene (TH) on chromosome 11p15.
http://purl.obolibrary.org/obo/DOID_0051060	frontotemporal dementia 1	http://purl.obolibrary.org/obo/DOID_9255	frontotemporal dementia		A frontotemporal dementia that has_material_basis_in heterozygous mutation in the MAPT gene, which encodes microtubule-associated protein tau, on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0051061	stroke	http://purl.obolibrary.org/obo/DOID_6713	cerebrovascular disease		A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.
http://purl.obolibrary.org/obo/DOID_0051062	ischemic stroke	http://purl.obolibrary.org/obo/DOID_0051061	stroke		A stroke that is characterized by a blood clot in a blood vessel blocking blood flow to the brain.
http://purl.obolibrary.org/obo/DOID_0051063	hemorrhagic stroke	http://purl.obolibrary.org/obo/DOID_0051061	stroke		A stroke that is characterized by sudden bleeding in the brain.
http://purl.obolibrary.org/obo/DOID_0051064	left ventricular failure	http://purl.obolibrary.org/obo/DOID_6000	congestive heart failure		A congestive heart failure that is characterized by dysfunction of the left ventricle, resulting insufficient delivery of blood to vital organs.
http://purl.obolibrary.org/obo/DOID_0051065	chronic pancreatitis	http://purl.obolibrary.org/obo/DOID_4989	pancreatitis		A pancreatitis that is characterized by long-term inflamation of the pancreas.
http://purl.obolibrary.org/obo/DOID_0051066	arterionephrosclerosis	http://purl.obolibrary.org/obo/DOID_784	chronic kidney disease		A chronic kidney disease that is characterized by arteriosclerosis, global glomerulosclerosis, and cortical fibrosis with tubular atrophy and loss.
http://purl.obolibrary.org/obo/DOID_0061135	infantile hypercalcemia 2	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC34A1 gene on chromosome 5q35.
http://purl.obolibrary.org/obo/DOID_0061136	infantile hypercalcemia 1	http://purl.obolibrary.org/obo/DOID_655	inherited metabolic disorder		A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYP24A1 gene on chromosome 20q13.
http://purl.obolibrary.org/obo/DOID_0061137	spinocerebellar ataxia 27B	http://purl.obolibrary.org/obo/DOID_1441	autosomal dominant cerebellar ataxia		An autosomal dominant cerebellar ataxia that is characterized by the onset of gait and appendicular ataxia in adulthood, usually around age 55 (range 30 to late eighties) and has_material_basis_in heterozygous GAA(n) trinucleotide repeat expansion in the FGF14 gene on chromosome 13q33.
http://purl.obolibrary.org/obo/DOID_0061139	coronary atherosclerosis	http://purl.obolibrary.org/obo/DOID_1936	atherosclerosis		An atherosclerosis of the coronary vasculature.
http://purl.obolibrary.org/obo/DOID_0061141	complex cortical dysplasia with other brain malformations 12	http://purl.obolibrary.org/obo/DOID_0090131	complex cortical dysplasia with other brain malformations		A complex cortical dysplasia with other brain malformations characterized by severe to profound neurodevelopmental delay with absent speech, central hypotonia, peripheral spasticity, cortical visual impairment, and dysmorphic craniofacial features that has_material_basis_in homozygous or compound heterozygous mutations in the CAMSAP1 gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0061142	complex cortical dysplasia with other brain malformations 11	http://purl.obolibrary.org/obo/DOID_0090131	complex cortical dysplasia with other brain malformations		A complex cortical dysplasia with other brain malformations characterized by dilated ventricles and reduced white matter and associated with axonal developmental defects that has_material_basis_in homozygous or compound heterozygous mutation in the KIF26A gene on chromosome 14q32.
http://purl.obolibrary.org/obo/DOID_0061143	complex cortical dysplasia with other brain malformations 10	http://purl.obolibrary.org/obo/DOID_0090131	complex cortical dysplasia with other brain malformations		A complex cortical dysplasia with other brain malformations characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter that has_material_basis_in homozygous or compound heterozygous mutation in the APC2 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0061144	complex cortical dysplasia with other brain malformations 13	http://purl.obolibrary.org/obo/DOID_0090131	complex cortical dysplasia with other brain malformations		A complex cortical dysplasia with other brain malformations characterized by global developmental delay with impaired intellectual development that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.
http://purl.obolibrary.org/obo/DOID_0061145	monilethrix 1	http://purl.obolibrary.org/obo/DOID_0050472	monilethrix		A hair disease that is characterized by beading of the hair shaft caused by periodic constrictions and that has_material_basis_in heterozygous mutation in the hair cortex keratin gene KRT86 on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0061147	neurodevelopmental disorder with or without autism or seizures	http://purl.obolibrary.org/obo/DOID_225	syndrome		An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, impaired intellectual development, and speech delay. Some patients develop seizures, and may show regression after onset of seizures that has_material_basis_in heterozygous mutation in the CUL3 gene on chromosome 2q36.
http://purl.obolibrary.org/obo/DOID_0061148	hereditary congenital ptosis 2	http://purl.obolibrary.org/obo/DOID_0080012	X-linked recessive disease		A hereditary congenital ptosis that has_material_basis_in linkage to the X chromosome.
http://purl.obolibrary.org/obo/DOID_0061149	hereditary congenital ptosis 1	http://purl.obolibrary.org/obo/DOID_0060261	congenital ptosis		A hereditary congenital ptosis that has_material_basis_in autosomal dominant inheritance.
http://purl.obolibrary.org/obo/DOID_0061150	familial isolated hypoparathyroidism 1	http://purl.obolibrary.org/obo/DOID_0111387	familial isolated hypoparathyroidism		A familial isolated hypoparathyroidism that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the parathyroid hormone PTH gene on chromosome 11p15.
http://purl.obolibrary.org/obo/DOID_0061151	familial isolated hypoparathyroidism 2	http://purl.obolibrary.org/obo/DOID_0111387	familial isolated hypoparathyroidism		A familial isolated hypoparathyroidism that has_material_basis_in homozygous mutation in the glial cells missing transcription factor-2 GCM2 gene on chromosome 6p24. Some patients have been reported with heterozygous mutations in the GCM2 gene.
http://purl.obolibrary.org/obo/DOID_0061152	monilethrix 2	http://purl.obolibrary.org/obo/DOID_0050472	monilethrix		A hair disease that is characterized by a 'beaded' appearance of affected hairs on microscopy, caused by elliptical nodes of normal thickness alternating with narrow, dystrophic constrictions and that has_material_basis_in heterozygous mutation in the KRT81 gene on chromosome 12q13.
http://purl.obolibrary.org/obo/DOID_0061155	kyphomelic dysplasia	http://purl.obolibrary.org/obo/DOID_0080005	bone remodeling disease		A bone remodeling disease characterized by bowing of the limbs, primarily affecting the femurs that has_material_basis_in homozygous mutation in the CCN2 gene on chromosome 6q23.
http://purl.obolibrary.org/obo/DOID_0061156	CASGID syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by an elevated glutamate to glutamine ratio and impaired intellectual development with the variable features of infantile cataract, skin abnormalities, seizures, and progressive spastic quadriplegia that has_material_basis_in heterozygous mutation in the GLS gene, which encodes glutaminase, on chromosome 2q32.
http://purl.obolibrary.org/obo/DOID_0061157	retinopathy sensory neuropathy syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by progressive visual impairment due to retinopathy (usually retinitis pigmentosa) and progressive sensory neuropathy resulting in distal sensory loss of various modalities (vibration, proprioception, pain) that has_material_basis_inhomozygous or compound heterozygous mutation in the FLVCR1 gene on chromosome 1q32.
http://purl.obolibrary.org/obo/DOID_0061158	Kariminejad neurodevelopmental syndrome	http://purl.obolibrary.org/obo/DOID_0060308	autosomal recessive intellectual developmental disorder		An autosomal recessive intellectual developmental disorder characterized by global developmental delay with delayed walking by a few years, speech delay, and impaired intellectual development that has_material_basis_in homozygous mutation in the RBSN gene on chromosome 3p25.
http://purl.obolibrary.org/obo/DOID_0061159	infantile onset multisystem autoimmune disease	http://purl.obolibrary.org/obo/DOID_417	autoimmune disease		An autoimmune disease characterized by systemic autoimmune manifestations with infantile onset.
http://purl.obolibrary.org/obo/DOID_0061160	infantile onset multisystem autoimmune disease 1	http://purl.obolibrary.org/obo/DOID_0061159	infantile onset multisystem autoimmune disease		An infantile onset multisystem autoimmune disease characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs that has_material_basis_in heterozygous gain of function mutation in the STAT3 gene on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0061161	infantile onset multisystem autoimmune disease 2	http://purl.obolibrary.org/obo/DOID_0061159	infantile onset multisystem autoimmune disease		An infantile onset multisystem autoimmune disease that has_material_basis_in compound heterozygous mutation in the ZAP70 gene on chromosome 2q12.
http://purl.obolibrary.org/obo/DOID_0061162	infantile onset multisystem autoimmune disease 3	http://purl.obolibrary.org/obo/DOID_0061159	infantile onset multisystem autoimmune disease		An infantile onset multisystem autoimmune disease characterized by the onset of various systemic autoimmune manifestations in the first months or years of life that has_material_basis_in homozygous mutation in the CBLB gene on chromosome 3q13.
http://purl.obolibrary.org/obo/DOID_0061163	infantile onset multisystem autoimmune disease 4	http://purl.obolibrary.org/obo/DOID_0061159	infantile onset multisystem autoimmune disease		An infantile onset multisystem autoimmune disease characterized by onset of various autoimmune diseases in early childhood that has_material_basis_in homozygous mutation in the PDCD1 gene on chromosome 2q37.
http://purl.obolibrary.org/obo/DOID_0061164	infantile onset multisystem autoimmune disease 5	http://purl.obolibrary.org/obo/DOID_0061159	infantile onset multisystem autoimmune disease		An infantile onset multisystem autoimmune disease characterized predominantly by neonatal-onset type 1 diabetes mellitus due to complete insulin deficiency that has_material_basis_in homozygous mutation in the PDL1 gene on chromosome 9p24.
http://purl.obolibrary.org/obo/DOID_0061165	proximal renal tubular acidosis	http://purl.obolibrary.org/obo/DOID_14219	renal tubular acidosis		A renal tubular transport disease characterized by an inability of the distal tubule to generate a sufficiently large hydrogen ion gradient between blood and tubular fluid.
http://purl.obolibrary.org/obo/DOID_0061166	autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss	http://purl.obolibrary.org/obo/DOID_14219	renal tubular acidosis		A renal tubular transport disease characterized by the failure of the kidney to produce an appropriately acid urine in the presence of systemic metabolic acidosis or after acid loading, due to failure of hydrogen ion secretion or bicarbonate reabsorption in the distal nephron that has_material_basis_in homozygous mutation in the ATP6N1B gene on chromosome 7q34.
http://purl.obolibrary.org/obo/DOID_0061167	autosomal recessive proximal renal tubular acidosis	http://purl.obolibrary.org/obo/DOID_14219	renal tubular acidosis		A renal tubular transport disease characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage.
http://purl.obolibrary.org/obo/DOID_0061168	mitochondrial axonal Charcot-Marie-Tooth disease	http://purl.obolibrary.org/obo/DOID_10595	Charcot-Marie-Tooth disease		A Charcot-Marie-Tooth disease characterized by onset of distal muscle weakness and atrophy mainly affecting the lower limbs and resulting in difficulty walking in the second decade of life, although both earlier and later onset can occur that has_material_basis_in mutation in the MTTV gene, which is encoded by the mitochondrial genome.
http://purl.obolibrary.org/obo/DOID_0061171	immunodeficiency 130 with HPV-related verrucosis	http://purl.obolibrary.org/obo/DOID_0111962	combined immunodeficiency		A primary immunodeficiency disease that is characterized mainly by the onset of warts and verrucous or plaque-like skin lesions associated with HPV infection, usually in the first 3 decades of life and that has_material_basis_in homozygous mutation in the IL7 gene on chromosome 8q21.
http://purl.obolibrary.org/obo/DOID_0061172	transient neonatal diabetes mellitus 3	http://purl.obolibrary.org/obo/DOID_0060334	transient neonatal diabetes mellitus		A transient neonatal diabetes mellitus that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15.
http://purl.obolibrary.org/obo/DOID_0061173	transient neonatal diabetes mellitus 1	http://purl.obolibrary.org/obo/DOID_0060334	transient neonatal diabetes mellitus		A transient neonatal diabetes mellitus that has_material_basis_in overexpression of the paternal allele of the imprinted locus at chromosome 6q24, which contains only 2 expressed genes, PLAGL1 and HYMAI.
http://purl.obolibrary.org/obo/DOID_0061174	transient neonatal diabetes mellitus 2	http://purl.obolibrary.org/obo/DOID_0060334	transient neonatal diabetes mellitus		A transient neonatal diabetes mellitus that has_material_basis_in heterozygous mutation in the ABCC8 gene on chromosome 11p15.
http://purl.obolibrary.org/obo/DOID_0061175	Gollop-Wolfgang complex	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		A physical disorder characterized by bifurcation of the femur with ipsilateral tibial aplasia and split hand and monodactyly of the feet, resulting in severe and complex limb deformities.
http://purl.obolibrary.org/obo/DOID_0061176	developmental and epileptic encephalopathy 118	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A developmental and epileptic encephalopathy characterized by early-onset refractory epilepsy, severe global developmental delay usually with absent speech, hypotonia evolving to spastic quadriparesis, nystagmus, cortical visual impairment, and hematologic abnormalities that has_material_basis_in heterozygous mutation in the TMEM63B gene on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0061177	X-linked spermatogenic failure 9	http://purl.obolibrary.org/obo/DOID_0111910	spermatogenic failure		A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia resulting from maturation arrest that has_material_basis_in hemizygous mutation in the RBBP7 gene on chromosome Xp22.
http://purl.obolibrary.org/obo/DOID_0061178	autosomal recessive congenital nystagmus 8	http://purl.obolibrary.org/obo/DOID_0111797	autosomal recessive congenital nystagmus		A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene on chromosome Xq26.2.
http://purl.obolibrary.org/obo/DOID_0061179	Adams-Oliver syndrome 3	http://purl.obolibrary.org/obo/DOID_0060227	Adams-Oliver syndrome		An Adams-Oliver syndrome that has_material_basis_in heterozygous mutation in the RBPJ gene on chromosome 4p15.
http://purl.obolibrary.org/obo/DOID_0061180	familial hypercholanemia 3	http://purl.obolibrary.org/obo/DOID_1701	steroid inherited metabolic disorder		A steroid inherited metabolic disorder characterized by onset of symptoms, including jaundice and failure to thrive, in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the BAAT gene on chromosome 9q31.
http://purl.obolibrary.org/obo/DOID_0061181	familial hypercholanemia 1	http://purl.obolibrary.org/obo/DOID_1701	steroid inherited metabolic disorder		A steroid inherited metabolic disorder characterized by elevated concentrations of bile acids (usually conjugated), itching, and fat malabsorption, leading to poor overall growth and deficiencies of fat-soluble vitamins that has_material_basis_in homozygous mutation in the TJP2 gene on chromosome 9q21.
http://purl.obolibrary.org/obo/DOID_0061182	familial hypercholanemia 2	http://purl.obolibrary.org/obo/DOID_1701	steroid inherited metabolic disorder		A steroid inherited metabolic disorder characterized by persistently increased plasma levels of conjugated bile salts apparent from infancy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC10A1 gene on chromosome 14q24.
http://purl.obolibrary.org/obo/DOID_0061183	myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1	http://purl.obolibrary.org/obo/DOID_0080000	muscular disease		A muscular disease characterized by the onset of muscle cramping and stiffness on exertion in infancy or early childhood, although later (even adult) onset has also been reported that has_material_basis_in homozygous or compound heterozygous mutation in the MLIP gene on chromosome 6p12.
http://purl.obolibrary.org/obo/DOID_0061184	myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2	http://purl.obolibrary.org/obo/DOID_0080000	muscular disease		A muscular disease characterized by myalgia, muscle cramps, exercise intolerance, and increased serum creatine kinase with onset between the first and fourth decades of life that has_material_basis_in heterozygous mutation in the DTNA gene on chromosome 18q12.
http://purl.obolibrary.org/obo/DOID_0061185	autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A vitamin metabolic disorder characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin that has_material_basis_in heterozygous mutation in the PSTPIP1 gene on chromosome 15q24.
http://purl.obolibrary.org/obo/DOID_0061186	long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	http://purl.obolibrary.org/obo/DOID_3146	lipid metabolism disorder		A lipid metabolism disorder characterized by early-onset cardiomyopathy, hypoglycemia, neuropathy, and pigmentary retinopathy, and sudden death that has_material_basis_in homozygous or compound heterozygous mutations in the gene encoding long-chain hydroxyacyl-CoA dehydrogenase. The effect of the mutation on enzyme activity results solely from a deficiency in long-chain 3-hydroxyacyl-CoA dehydrogenase.
http://purl.obolibrary.org/obo/DOID_0061187	multiple familial trichoepithelioma 1	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A facial dermatosis that has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12.
http://purl.obolibrary.org/obo/DOID_0061188	autosomal recessive sensory neuropathy with spastic paraplegia	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A hereditary sensory and autonomic neuropathy that has_material_basis_in homozygous mutation in the CCT5 gene on chromosome 5p15.2.
http://purl.obolibrary.org/obo/DOID_0061189	neuronal ceroid lipofuscinosis 15	http://purl.obolibrary.org/obo/DOID_14503	neuronal ceroid lipofuscinosis		A neuronal ceroid lipofuscinosis that is characterized by severe global developmental delay apparent in infancy or early childhood and that has_material_basis_in heterozygous mutation in the CLCN6 gene on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0061190	ReNU syndrome	http://purl.obolibrary.org/obo/DOID_0060307	autosomal dominant intellectual developmental disorder		An autosomal dominant intellectual developmental disorder characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, seizures (in most), dysmorphic facial features, and brain anomalies, including ventriculomegaly, thin corpus callosum, and progressive white matter loss that has_material_basis_in heterozygous mutation in the RNU4-2 gene on chromosome 12q24.
http://purl.obolibrary.org/obo/DOID_0061191	neonatal nephrocutaneous inflammatory syndrome	http://purl.obolibrary.org/obo/DOID_0051000	autoinflammatory disease		An autoinflammatory disease characterized by intrauterine growth retardation and premature birth, fragile infection-prone skin, and nephromegaly with tubular dysfunction that has_material_basis_in mutation in homozygous or compound heterozygous mutation in the EGFR gene on chromosome 7p11.
http://purl.obolibrary.org/obo/DOID_0061192	neonatal inflammatory skin and bowel disease 1	http://purl.obolibrary.org/obo/DOID_0051000	autoinflammatory disease		An autoinflammatory disease that has_material_basis_in homozygous mutation in the ADAM17 gene on chromosome 2p25.
http://purl.obolibrary.org/obo/DOID_0061193	nephrotic syndrome type 26	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A familial nephrotic syndrome characterized by onset of proteinuria in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA5 gene on chromosome 20q13.
http://purl.obolibrary.org/obo/DOID_0061194	nephrotic syndrome type 24	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A familial nephrotic syndrome characterized by onset of proteinuria and hypoalbuminemia in early childhood, although onset in the second decade has been reported. that has_material_basis_in homozygous or compound heterozygous mutation in the DAAM2 gene on chromosome 6p21.
http://purl.obolibrary.org/obo/DOID_0061195	proximal renal tubular acidosis-ocular anomaly syndrome	http://purl.obolibrary.org/obo/DOID_14219	renal tubular acidosis		A renal tubular acidosis characterized by a decreased renal HCO3- threshold that has_material_basis_in homozygous mutation in the SLC4A4 gene on chromosome 4q13.
http://purl.obolibrary.org/obo/DOID_0061196	Mietens syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome that is characterized by corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.
http://purl.obolibrary.org/obo/DOID_0061197	BCARD syndrome	http://purl.obolibrary.org/obo/DOID_65	connective tissue disease		A connective tissue disease characterized by bone abnormalities, including low bone mineral density, scoliosis, contractures of the fingers and other joints, prominent knees, and rare pathologic fractures; cataract and other ocular abnormalities, including high myopia, optically empty vitreous, and risk for retinal detachment; risk of arterial rupture due to vascular aneurysm or dissection; and sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the PLOD3 gene on chromosome 7q22.
http://purl.obolibrary.org/obo/DOID_0061198	Bethlem myopathy 1A	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Bethlem myopathy that has_material_basis_in heterozygous mutation in the COL6A1 gene on chromosome 21q22.
http://purl.obolibrary.org/obo/DOID_0061199	Bethlem myopathy 1B	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Bethlem myopathy that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the COL6A2 gene on chromosome 21q22.
http://purl.obolibrary.org/obo/DOID_0061200	Bethlem myopathy 1C	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A Bethlem myopathy that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the COL6A3 gene on chromosome 2q37.
http://purl.obolibrary.org/obo/DOID_0061201	Bethlem myopathy 2	http://purl.obolibrary.org/obo/DOID_0050736	autosomal dominant disease		A Bethlem myopathy characterized by congenital hypotonia, myopathy and delayed motor development with eventual ambulation that has_material_basis_in heterozygous mutation in the COL12A1 gene on chromosome 6q.
http://purl.obolibrary.org/obo/DOID_0061202	congenital muscular dystrophy with rapid progression	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A congenital muscular dystrophy characterized by hypotonia and poor feeding apparent in infancy, delayed motor development with poor head control and inability to sit or walk, progressive weakness and lethargy, and respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the BET1 gene on chromosome 7q21.
http://purl.obolibrary.org/obo/DOID_0061203	maple syrup urine disease type IA	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A maple syrup urine disease characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine that has_material_basis_in homozygous or compound heterozygous mutation in the BCKDHA gene, which encodes the E1-alpha subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 19q13.
http://purl.obolibrary.org/obo/DOID_0061204	dihydrolipoamide dehydrogenase deficiency	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A maple syrup urine disease characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC) and that has_material_basis_in homozygous or compound heterozygous mutation in the DLD gene on chromosome 7q31.
http://purl.obolibrary.org/obo/DOID_0061205	mild variant of maple syrup urine disease	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A maple syrup urine disease characterized by increased plasma levels of branched-chain amino acids (BCAA) apparent at birth that has_material_basis_in homozygous mutation in the PPM1K gene on chromosome 4q22.
http://purl.obolibrary.org/obo/DOID_0061206	maple syrup urine disease type IB	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A maple syrup urine disease that is characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine and that has_material_basis_in homozygous or compound heterozygous mutation in the BCKDHB gene, which encodes a subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 6q14.
http://purl.obolibrary.org/obo/DOID_0061207	maple syrup urine disease type II	http://purl.obolibrary.org/obo/DOID_0050737	autosomal recessive disease		A maple syrup urine disease that has_material_basis_in homozygous or compound heterozygous mutation in the DBT gene, which encodes a subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 1p21.
http://purl.obolibrary.org/obo/DOID_0061208	epidermolytic hyperkeratosis 2B	http://purl.obolibrary.org/obo/DOID_0081359	epidermolytic hyperkeratosis 2		An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases that has_material_basis_in homozygous mutation in the KRT10 geneon chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0061209	branchiootic syndrome 1	http://purl.obolibrary.org/obo/DOID_0060232	branchiootic syndrome		A branchiootic syndrome that has_material_basis_in heterozygous mutation in the EYA1 gene on chromosome 8q13.
http://purl.obolibrary.org/obo/DOID_0061210	branchiootic syndrome 3	http://purl.obolibrary.org/obo/DOID_0060232	branchiootic syndrome		A branchiootic syndrome that has_material_basis_in heterozygous mutation in the SIX1 gene on chromosome 14q23.
http://purl.obolibrary.org/obo/DOID_0061211	Lafora disease 2	http://purl.obolibrary.org/obo/DOID_3534	Lafora disease		A Lafora disease that has_material_basis_in homozygous or compound heterozygous mutation in the NHLRC1 gene, which encodes malin, on chromosome 6p22.
http://purl.obolibrary.org/obo/DOID_0061212	hypocholesteremia	http://purl.obolibrary.org/obo/DOID_0014667	disease of metabolism		A disease of metabolism characterized by resence of abnormally low (hypo-) levels of cholesterol in the blood (-emia).
http://purl.obolibrary.org/obo/DOID_0061213	telomere biology disorder	http://purl.obolibrary.org/obo/DOID_630	genetic disease		A genetic disease that is characterized by telomeres that are longer or shorter than usual.
http://purl.obolibrary.org/obo/DOID_0061214	biliary obstruction	http://purl.obolibrary.org/obo/DOID_4138	bile duct disease		A bile duct disease characterized by an impairment of bile flow from the liver to the small intestine due to blockage of the biliary duct system.
http://purl.obolibrary.org/obo/DOID_0061215	hepatic fibrosis	http://purl.obolibrary.org/obo/DOID_409	liver disease		A liver disease that is characterized by an excessive accumulation of extracellular matrix proteins that results in the development of scar tissue due to chronic inflammation or damage.
http://purl.obolibrary.org/obo/DOID_0061216	pheochromocytoma/paraganglioma syndrome 1	http://purl.obolibrary.org/obo/DOID_0050773	paraganglioma		A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHD gene.
http://purl.obolibrary.org/obo/DOID_0061217	pheochromocytoma/paraganglioma syndrome 2	http://purl.obolibrary.org/obo/DOID_0050773	paraganglioma		A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHAF2 gene.
http://purl.obolibrary.org/obo/DOID_0061218	pheochromocytoma/paraganglioma syndrome 3	http://purl.obolibrary.org/obo/DOID_0050773	paraganglioma		A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHC gene.
http://purl.obolibrary.org/obo/DOID_0061219	pheochromocytoma/paraganglioma syndrome 4	http://purl.obolibrary.org/obo/DOID_0050773	paraganglioma		A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHB gene, which encodes the iron sulfur subunit of succinate dehydrogenase, on chromosome 1p36.
http://purl.obolibrary.org/obo/DOID_0061220	pheochromocytoma/paraganglioma syndrome 5	http://purl.obolibrary.org/obo/DOID_0050773	paraganglioma		A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHA gene on chromosome 5p15.
http://purl.obolibrary.org/obo/DOID_0061221	pheochromocytoma/paraganglioma syndrome 6	http://purl.obolibrary.org/obo/DOID_0050773	paraganglioma		A paraganglioma characterized by the development of neuroendocrine neoplasms, known as paragangliomas that has material_basis_in heterozygous mutation in the SLC25A11 gene on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0061222	pheochromocytoma/paraganglioma syndrome 7	http://purl.obolibrary.org/obo/DOID_0050773	paraganglioma		A paraganglioma characterized by the development of neuroendocrine neoplasms, known as paragangliomas that has material_basis_in heterozygous mutation in the DLST gene on chromosome 14q24.
http://purl.obolibrary.org/obo/DOID_0061223	epidermolytic hyperkeratosis 2A	http://purl.obolibrary.org/obo/DOID_0081359	epidermolytic hyperkeratosis 2		An epidermolytic hyperkeratosis that is characterized by blistering, keratoderma, and erythroderma that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene on chromosome 17q21.
http://purl.obolibrary.org/obo/DOID_0061224	Majeed syndrome	http://purl.obolibrary.org/obo/DOID_0051000	autoinflammatory disease		An autoinflammatory disease characterized by characterized by chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia that has_material_basis_in homozygous mutation in the LPIN2 gene on chromosome 18p11.
http://purl.obolibrary.org/obo/DOID_0070636	mirror movements 1	http://purl.obolibrary.org/obo/DOID_0111153	congenital mirror movement disorder		A congenital mirror movement disorder characterized by mirror movements and/or agenesis of the corpus callosum that has_material_basis_in heterozygous mutation in the DCC gene on chromosome 18q21, with incomplete penetrance.
http://purl.obolibrary.org/obo/DOID_0070637	mirror movements 2	http://purl.obolibrary.org/obo/DOID_0111153	congenital mirror movement disorder		A congenital mirror movement disorder that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15.
http://purl.obolibrary.org/obo/DOID_0070638	mirror movements 4	http://purl.obolibrary.org/obo/DOID_0111153	congenital mirror movement disorder		A congenital mirror movement disorder that has_material_basis_in heterozygous mutation in the NTN1 gene on chromosome 17p13.
http://purl.obolibrary.org/obo/DOID_0070639	mirror movements 3	http://purl.obolibrary.org/obo/DOID_0111153	congenital mirror movement disorder		A congenital mirror movement disorder that has_material_basis_in homozygous mutation in the DNAL4 gene on chromosome 22q13.
http://purl.obolibrary.org/obo/DOID_0070640	hereditary spastic paraplegia 18A	http://purl.obolibrary.org/obo/DOID_0110771	hereditary spastic paraplegia 18		A hereditary spastic paraplegia 18 that has_material_basis_in heterozygous mutation in the ERLIN2 gene on chromosome 8p11.
http://purl.obolibrary.org/obo/DOID_0070641	hereditary spastic paraplegia 18B	http://purl.obolibrary.org/obo/DOID_0110771	hereditary spastic paraplegia 18		A hereditary spastic paraplegia 18 that has_material_basis_in homozygous mutation in the ERLIN2 gene on chromosome 8p11.
http://purl.obolibrary.org/obo/DOID_0070642	hereditary spastic paraplegia 72B	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in compound heterozygous mutation in the REEP2 gene on chromosome 5q31.
http://purl.obolibrary.org/obo/DOID_0070643	hereditary spastic paraplegia 91	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34.
http://purl.obolibrary.org/obo/DOID_0070645	hereditary spastic paraplegia 93	http://purl.obolibrary.org/obo/DOID_2476	hereditary spastic paraplegia		A hereditary spastic paraplegia that has_material_basis_in homozygous or compound heterozygous mutation in the NFU1 gene on chromosome 2p13.
http://purl.obolibrary.org/obo/DOID_0070646	hereditary spastic paraplegia 30B	http://purl.obolibrary.org/obo/DOID_0110781	hereditary spastic paraplegia 30		A hereditary spastic paraplegia 30 that has_material_basis_in homozygous mutation in the KIF1A gene on chromosome 2q37.
http://purl.obolibrary.org/obo/DOID_0070647	hereditary spastic paraplegia 30A	http://purl.obolibrary.org/obo/DOID_0110781	hereditary spastic paraplegia 30		A hereditary spastic paraplegia 30 that has_material_basis_in heterozygous mutation in the KIF1A gene on chromosome 2q37.
http://purl.obolibrary.org/obo/DOID_0070648	cherubism	http://purl.obolibrary.org/obo/DOID_0080011	bone resorption disease		A bone resorption disease characterized by replacement of bone in the jaws with fibrous tissue leading to facial swelling.
http://purl.obolibrary.org/obo/DOID_0070649	cherubism 2	http://purl.obolibrary.org/obo/DOID_0070648	cherubism		A cherubism that has_material_basis_in homozygous mutation in the OGFRL1 gene on chromosome 6q13.
http://purl.obolibrary.org/obo/DOID_0070650	Ramon syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth.
http://purl.obolibrary.org/obo/DOID_0070651	neurodevelopmental disorder with seizures and gingival overgrowth	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by a variable phenotype primarily including seizures, gingival overgrowth, a prominent mandible or cherubism, and mental deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D2B gene on chromosome 15q24. Other more variable features include coarse facial features, optic atrophy, sensorineural hearing loss, ataxia, hypotonia, delayed development or developmental regression, cerebellar or cerebral atrophy, and enlarged brain ventricles.
http://purl.obolibrary.org/obo/DOID_0070652	Nil-Deshwar neurodevelopmental syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by a range of congenital anomalies and central nervous system dysfunction, including global developmental delay, feeding difficulties, hypotonia, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DOT1L gene on chromosome 19p13.
http://purl.obolibrary.org/obo/DOID_0070654	desmosterolosis	http://purl.obolibrary.org/obo/DOID_3146	lipid metabolism disorder		A lipid metabolism disorder characterized by multiple congenital anomalies, developmental delay, intellectual disability, and elevated levels of the cholesterol precursor desmosterol that has_material_basis_in homozygous or compound heterozygous mutation in the DHCR24 gene on chromosome 1p32.
http://purl.obolibrary.org/obo/DOID_0070655	Usher syndrome type 1B	http://purl.obolibrary.org/obo/DOID_0110826	Usher syndrome type 1		An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the MYO7A gene on chromosome 11q13.
http://purl.obolibrary.org/obo/DOID_0070656	hamartoma syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		A syndrome characterized by the presence of multiple benign growths called hamartomas and an increased risk of cancer.
http://purl.obolibrary.org/obo/DOID_0070657	congenital variant of Rett syndrome	http://purl.obolibrary.org/obo/DOID_936	brain disease		A pervasive developmental disorder characterized by microcephaly, developmental delay, severe cognitive disabilities, early-onset dyskinesia and hyperkinetic movements, stereotypies, epilepsy, and cerebral malformation that has_material_basis_in heterozygous mutation in the FOXG1 gene on chromosome 14q13, encoding forkhead box protein G1.
http://purl.obolibrary.org/obo/DOID_0070658	alcohol-associated liver disease	http://purl.obolibrary.org/obo/DOID_409	liver disease		A liver disease resulting from excessive alcohol intake.
http://purl.obolibrary.org/obo/DOID_0070659	alpha-gal syndrome	http://purl.obolibrary.org/obo/DOID_1205	allergic disease		An allergic disease that is triggered by galactose-alpha-1,3-galactose (alpha-gal). Sensitization usually results from a tick bite. Symptoms most often appear 2-6 hours after eating mammalian meat but may also be triggered by mamalian-derived products.
http://purl.obolibrary.org/obo/DOID_0070660	Lafora disease 1	http://purl.obolibrary.org/obo/DOID_3534	Lafora disease		A Lafora disease that has_material_basis_in homozygous or compound heterozygous mutation in the EPM2A gene on chromosome 6q24.
http://purl.obolibrary.org/obo/DOID_0070661	muscle dysmorphic disorder	http://purl.obolibrary.org/obo/DOID_0060163	body dysmorphic disorder		A body dysmorphic disorder characterized by a persistent belief that one’s physique is insufficiently muscular or lean, even when having a normal-to-very muscular build.
http://purl.obolibrary.org/obo/DOID_0070662	subcutaneous panniculitis-like T-cell lymphoma	http://purl.obolibrary.org/obo/DOID_0060061	primary cutaneous T-cell non-Hodgkin lymphoma		A primary cutaneous T-cell non-Hodgkin lymphoma characterized by infiltration of subcutaneous tissue by neoplastic alpha-beta cytotoxic T cells mimicking panniculitis. Homozygous or compound heterozygous mutation in the HAVCR2 gene may contribute to development of this disease, with some evidence of incomplete penetrance.
http://purl.obolibrary.org/obo/DOID_0070663	soft tissue sarcoma	http://purl.obolibrary.org/obo/DOID_201	connective tissue cancer		A connective tissue cancer that has_material_basis_in abnormally proliferating cells derived from embryonic mesoderm and starts in the soft tissues of the body (e.g. fat, muscle, nerves, blood vessels).
http://purl.obolibrary.org/obo/DOID_0070664	oropharyngeal squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_1749	squamous cell carcinoma		An oropharynx cancer that derives_from squamous epithelial cells.
http://purl.obolibrary.org/obo/DOID_3972	poorly differentiated thyroid carcinoma	http://purl.obolibrary.org/obo/DOID_3963	thyroid gland carcinoma		A thyroid gland carcinoma characterized by intermediate follicular cell differentiation and either high mitotic activity or tumor necrosis.
http://purl.obolibrary.org/obo/NCBITaxon_6681	Malacostraca	http://purl.obolibrary.org/obo/NCBITaxon_2172821	Multicrustacea		
http://purl.obolibrary.org/obo/DOID_60004	malignant cystadenoma	http://purl.obolibrary.org/obo/DOID_0080364	malignant adenoma		
http://purl.obolibrary.org/obo/SYMP_0000128	conjunctivitis	http://purl.obolibrary.org/obo/SYMP_0020034	conjunctiva symptom		
http://purl.obolibrary.org/obo/NCBITaxon_1980413	Hantaviridae	http://purl.obolibrary.org/obo/NCBITaxon_3151837	Elliovirales		
http://purl.obolibrary.org/obo/NCBITaxon_1980416	Peribunyaviridae	http://purl.obolibrary.org/obo/NCBITaxon_3151837	Elliovirales		
http://purl.obolibrary.org/obo/NCBITaxon_32066	Fusobacteriota	http://purl.obolibrary.org/obo/NCBITaxon_3384189	Fusobacteriati		
http://purl.obolibrary.org/obo/CHEBI_204928	cefotaxime	http://purl.obolibrary.org/obo/CHEBI_38418	1,3-thiazoles		
http://purl.obolibrary.org/obo/CHEBI_355510	cefotiam	http://purl.obolibrary.org/obo/CHEBI_72588	semisynthetic derivative		
http://purl.obolibrary.org/obo/CHEBI_3478	cefaclor	http://purl.obolibrary.org/obo/CHEBI_23066	cephalosporin		
http://purl.obolibrary.org/obo/CHEBI_3508	ceftazidime	http://purl.obolibrary.org/obo/CHEBI_36816	oxime O-ether		
http://purl.obolibrary.org/obo/CHEBI_472657	cefixime	http://purl.obolibrary.org/obo/CHEBI_23066	cephalosporin		
http://purl.obolibrary.org/obo/CHEBI_474859	maleic anhydride	http://purl.obolibrary.org/obo/CHEBI_36609	cyclic dicarboxylic anhydride		
http://purl.obolibrary.org/obo/CHEBI_3515	cefuroxime	http://purl.obolibrary.org/obo/CHEBI_28084	3-(carbamoyloxymethyl)cephalosporin		
http://purl.obolibrary.org/obo/CHEBI_8107	phenytoin	http://purl.obolibrary.org/obo/CHEBI_24628	imidazolidine-2,4-dione		
http://purl.obolibrary.org/obo/CHEBI_37668	terpene lactone	http://purl.obolibrary.org/obo/CHEBI_26873	terpenoid		
http://purl.obolibrary.org/obo/CHEBI_35618	aromatic ether	http://purl.obolibrary.org/obo/CHEBI_33659	organic aromatic compound		
http://purl.obolibrary.org/obo/CHEBI_17522	alditol	http://purl.obolibrary.org/obo/CHEBI_16646	carbohydrate		
http://purl.obolibrary.org/obo/CHEBI_36709	aminoquinoline	http://purl.obolibrary.org/obo/CHEBI_33860	aromatic amine		
http://purl.obolibrary.org/obo/CHEBI_167099	benzo[d]isothiazol-3-one	http://purl.obolibrary.org/obo/CHEBI_38101	organonitrogen heterocyclic compound		
http://purl.obolibrary.org/obo/CHEBI_35875	imidazopyrimidine	http://purl.obolibrary.org/obo/CHEBI_33833	heteroarene		
http://purl.obolibrary.org/obo/CHEBI_35358	sulfonamide	http://purl.obolibrary.org/obo/CHEBI_33256	primary amide		
http://purl.obolibrary.org/obo/CHEBI_50492	thiocarbonyl compound	http://purl.obolibrary.org/obo/CHEBI_33261	organosulfur compound		
http://purl.obolibrary.org/obo/CHEBI_16385	organic sulfide	http://purl.obolibrary.org/obo/CHEBI_26822	sulfide		
http://purl.obolibrary.org/obo/CHEBI_33853	phenols	http://purl.obolibrary.org/obo/CHEBI_33659	organic aromatic compound		
http://purl.obolibrary.org/obo/CHEBI_38831	2-benzofurans	http://purl.obolibrary.org/obo/CHEBI_35259	benzofurans		
http://purl.obolibrary.org/obo/CHEBI_34718	1-chloro-2,4-dinitrobenzene	http://purl.obolibrary.org/obo/CHEBI_83403	monochlorobenzenes		
http://purl.obolibrary.org/obo/CHEBI_53050	trimellitic anhydride	http://purl.obolibrary.org/obo/CHEBI_38831	2-benzofurans		
http://purl.obolibrary.org/obo/CHEBI_36605	phthalic anhydride	http://purl.obolibrary.org/obo/CHEBI_38831	2-benzofurans		
http://purl.obolibrary.org/obo/CHEBI_24995	lactam	http://purl.obolibrary.org/obo/CHEBI_37622	carboxamide		
http://purl.obolibrary.org/obo/CHEBI_26151	piperidines	http://purl.obolibrary.org/obo/CHEBI_25693	organic heteromonocyclic compound		
http://purl.obolibrary.org/obo/CHEBI_26421	pyridines	http://purl.obolibrary.org/obo/CHEBI_25693	organic heteromonocyclic compound		
http://purl.obolibrary.org/obo/CHEBI_50893	azaarene	http://purl.obolibrary.org/obo/CHEBI_33833	heteroarene		
http://purl.obolibrary.org/obo/CHEBI_26961	thiophenes	http://purl.obolibrary.org/obo/CHEBI_38106	organosulfur heterocyclic compound		
http://purl.obolibrary.org/obo/CHEBI_48901	thiazoles	http://purl.obolibrary.org/obo/CHEBI_68452	azole		
http://purl.obolibrary.org/obo/CHEBI_46770	pyrrolidinecarboxamide	http://purl.obolibrary.org/obo/CHEBI_29347	monocarboxylic acid amide		
http://purl.obolibrary.org/obo/CHEBI_55370	imidazolidinone	http://purl.obolibrary.org/obo/CHEBI_38261	imidazolidines		
http://purl.obolibrary.org/obo/CHEBI_161680	aztreonam	http://purl.obolibrary.org/obo/CHEBI_88225	beta-lactam antibiotic allergen		
http://purl.obolibrary.org/obo/CHEBI_138412	N,N'-diphenylthiourea	http://purl.obolibrary.org/obo/CHEBI_51276	thioureas		
http://purl.obolibrary.org/obo/CHEBI_33671	heteropolycyclic compound	http://purl.obolibrary.org/obo/CHEBI_33635	polycyclic compound		
http://purl.obolibrary.org/obo/CHEBI_33672	heterobicyclic compound	http://purl.obolibrary.org/obo/CHEBI_33636	bicyclic compound		
http://purl.obolibrary.org/obo/CHEBI_88187	penicillin allergen	http://purl.obolibrary.org/obo/CHEBI_17334	penicillin		
http://purl.obolibrary.org/obo/CHEBI_8232	piperacillin	http://purl.obolibrary.org/obo/CHEBI_88187	penicillin allergen		
http://purl.obolibrary.org/obo/CHEBI_48975	substituted aniline	http://purl.obolibrary.org/obo/CHEBI_22562	anilines		
http://purl.obolibrary.org/obo/CHEBI_35605	carbon oxoacid	http://purl.obolibrary.org/obo/CHEBI_36963	organooxygen compound		
http://purl.obolibrary.org/obo/CHEBI_33595	cyclic compound	http://purl.obolibrary.org/obo/CHEBI_25367	molecule		
http://purl.obolibrary.org/obo/CHEBI_53444	potassium dichromate	http://purl.obolibrary.org/obo/CHEBI_26218	potassium salt		
http://purl.obolibrary.org/obo/CHEBI_51447	organic univalent group	http://purl.obolibrary.org/obo/CHEBI_33247	organic group		
http://purl.obolibrary.org/obo/CHEBI_8884	rocuronium	http://purl.obolibrary.org/obo/CHEBI_50996	tertiary amino compound		
http://purl.obolibrary.org/obo/CHEBI_53731	remazole black-GR	http://purl.obolibrary.org/obo/CHEBI_48960	bis(azo) compound		
http://purl.obolibrary.org/obo/CHEBI_36586	carbonyl compound	http://purl.obolibrary.org/obo/CHEBI_36963	organooxygen compound		
http://purl.obolibrary.org/obo/CHEBI_32955	epoxide	http://purl.obolibrary.org/obo/CHEBI_37407	cyclic ether		
http://purl.obolibrary.org/obo/CHEBI_26979	organic heterotricyclic compound	http://purl.obolibrary.org/obo/CHEBI_36688	heterotricyclic compound		
http://purl.obolibrary.org/obo/CHEBI_140310	phenyl acetates	http://purl.obolibrary.org/obo/CHEBI_22712	benzenes		
http://purl.obolibrary.org/obo/CHEBI_31635	neomycin sulfate	http://purl.obolibrary.org/obo/CHEBI_60004	mixture		
http://purl.obolibrary.org/obo/CHEBI_5516	sodium aurothiomalate	http://purl.obolibrary.org/obo/CHEBI_60004	mixture		
http://purl.obolibrary.org/obo/CHEBI_22925	bromide salt	http://purl.obolibrary.org/obo/CHEBI_33958	halide salt		
http://purl.obolibrary.org/obo/CHEBI_23697	dichlorobenzene	http://purl.obolibrary.org/obo/CHEBI_23132	chlorobenzenes		
http://purl.obolibrary.org/obo/CHEBI_26888	tetrachlorobenzene	http://purl.obolibrary.org/obo/CHEBI_23132	chlorobenzenes		
http://purl.obolibrary.org/obo/CHEBI_83403	monochlorobenzenes	http://purl.obolibrary.org/obo/CHEBI_23132	chlorobenzenes		
http://purl.obolibrary.org/obo/CHEBI_33579	main group molecular entity	http://purl.obolibrary.org/obo/CHEBI_23367	molecular entity		
http://purl.obolibrary.org/obo/CHEBI_59999	chemical substance	http://purl.obolibrary.org/obo/CHEBI_24431	chemical entity		
http://purl.obolibrary.org/obo/CHEBI_23117	chlorine molecular entity	http://purl.obolibrary.org/obo/CHEBI_24471	halogen molecular entity		
http://purl.obolibrary.org/obo/CHEBI_37578	halide	http://purl.obolibrary.org/obo/CHEBI_37577	heteroatomic molecular entity		
http://purl.obolibrary.org/obo/CHEBI_33833	heteroarene	http://purl.obolibrary.org/obo/CHEBI_33659	organic aromatic compound		
http://purl.obolibrary.org/obo/CHEBI_38104	oxacycle	http://purl.obolibrary.org/obo/CHEBI_36963	organooxygen compound		
http://purl.obolibrary.org/obo/CHEBI_33242	inorganic hydride	http://purl.obolibrary.org/obo/CHEBI_33692	hydrides		
http://purl.obolibrary.org/obo/CHEBI_24868	organic salt	http://purl.obolibrary.org/obo/CHEBI_24866	salt		
http://purl.obolibrary.org/obo/CHEBI_35479	alkali metal salt	http://purl.obolibrary.org/obo/CHEBI_33296	alkali metal molecular entity		
http://purl.obolibrary.org/obo/CHEBI_36389	saturated organic heteromonocyclic parent	http://purl.obolibrary.org/obo/CHEBI_36388	saturated organic heterocyclic parent		
http://purl.obolibrary.org/obo/CHEBI_25697	organic cation	http://purl.obolibrary.org/obo/CHEBI_36916	cation		
http://purl.obolibrary.org/obo/CHEBI_36963	organooxygen compound	http://purl.obolibrary.org/obo/CHEBI_36962	organochalcogen compound		
http://purl.obolibrary.org/obo/CHEBI_38700	organic sodium salt	http://purl.obolibrary.org/obo/CHEBI_24868	organic salt		
http://purl.obolibrary.org/obo/CHEBI_26658	sesquiterpenoid	http://purl.obolibrary.org/obo/CHEBI_26873	terpenoid		
http://purl.obolibrary.org/obo/CHEBI_33256	primary amide	http://purl.obolibrary.org/obo/CHEBI_32988	amide		
http://purl.obolibrary.org/obo/CHEBI_35507	natural product fundamental parent	http://purl.obolibrary.org/obo/CHEBI_33245	organic fundamental parent		
http://purl.obolibrary.org/obo/CHEBI_35552	heterocyclic organic fundamental parent	http://purl.obolibrary.org/obo/CHEBI_33245	organic fundamental parent		
http://purl.obolibrary.org/obo/CHEBI_35352	organonitrogen compound	http://purl.obolibrary.org/obo/CHEBI_51143	nitrogen molecular entity		
http://purl.obolibrary.org/obo/CHEBI_86494	botanical anti-fungal agent	http://purl.obolibrary.org/obo/CHEBI_33285	heteroorganic entity		
http://purl.obolibrary.org/obo/CHEBI_35881	pnictogen hydride	http://purl.obolibrary.org/obo/CHEBI_33242	inorganic hydride		
http://purl.obolibrary.org/obo/CHEBI_26835	sulfur molecular entity	http://purl.obolibrary.org/obo/CHEBI_33304	chalcogen molecular entity		
http://purl.obolibrary.org/obo/CHEBI_33561	d-block element atom	http://purl.obolibrary.org/obo/CHEBI_27081	transition element atom		
http://purl.obolibrary.org/obo/CHEBI_27081	transition element atom	http://purl.obolibrary.org/obo/CHEBI_33521	metal atom		
http://purl.obolibrary.org/obo/CHEBI_88184	metal allergen	http://purl.obolibrary.org/obo/CHEBI_33521	metal atom		
http://purl.obolibrary.org/obo/CHEBI_50860	organic molecular entity	http://purl.obolibrary.org/obo/CHEBI_33582	carbon group molecular entity		
http://purl.obolibrary.org/obo/CHEBI_33836	benzenoid aromatic compound	http://purl.obolibrary.org/obo/CHEBI_33659	organic aromatic compound		
http://purl.obolibrary.org/obo/CHEBI_33692	hydrides	http://purl.obolibrary.org/obo/CHEBI_37577	heteroatomic molecular entity		
http://purl.obolibrary.org/obo/CHEBI_51958	organic polycyclic compound	http://purl.obolibrary.org/obo/CHEBI_33635	polycyclic compound		
http://purl.obolibrary.org/obo/CHEBI_51402	phenylenediamine	http://purl.obolibrary.org/obo/CHEBI_33860	aromatic amine		
http://purl.obolibrary.org/obo/CHEBI_25865	penicillanic acids	http://purl.obolibrary.org/obo/CHEBI_33575	carboxylic acid		
http://purl.obolibrary.org/obo/CHEBI_48960	bis(azo) compound	http://purl.obolibrary.org/obo/CHEBI_37533	azo compound		
http://purl.obolibrary.org/obo/CHEBI_22682	azobenzenes	http://purl.obolibrary.org/obo/CHEBI_22712	benzenes		
http://purl.obolibrary.org/obo/CHEBI_33241	oxoacid derivative	http://purl.obolibrary.org/obo/CHEBI_37577	heteroatomic molecular entity		
http://purl.obolibrary.org/obo/CHEBI_35274	ammonium ion derivative	http://purl.obolibrary.org/obo/CHEBI_33702	polyatomic cation		
http://purl.obolibrary.org/obo/CHEBI_35790	oxazole	http://purl.obolibrary.org/obo/CHEBI_38104	oxacycle		
http://purl.obolibrary.org/obo/CHEBI_84144	L-phenylalanine derivative	http://purl.obolibrary.org/obo/CHEBI_25985	phenylalanine derivative		
http://purl.obolibrary.org/obo/CHEBI_83925	non-proteinogenic alpha-amino acid	http://purl.obolibrary.org/obo/CHEBI_33704	alpha-amino acid		
http://purl.obolibrary.org/obo/CHEBI_39447	pyrimidines	http://purl.obolibrary.org/obo/CHEBI_38313	diazines		
http://purl.obolibrary.org/obo/CHEBI_38785	morpholines	http://purl.obolibrary.org/obo/CHEBI_46952	oxazinane		
http://purl.obolibrary.org/obo/HP_0008665	Clitoral hypertrophy	http://purl.obolibrary.org/obo/HP_0040253	Increased size of the clitoris		
http://purl.obolibrary.org/obo/NCBITaxon_160	Treponema pallidum	http://purl.obolibrary.org/obo/NCBITaxon_157	Treponema		
http://purl.obolibrary.org/obo/NCBITaxon_6181	Schistosoma	http://purl.obolibrary.org/obo/NCBITaxon_31245	Schistosomatidae		
http://purl.obolibrary.org/obo/NCBITaxon_63405	Microsporum canis	http://purl.obolibrary.org/obo/NCBITaxon_34392	Microsporum		
http://purl.obolibrary.org/obo/NCBITaxon_43075	Trichomonas tenax	http://purl.obolibrary.org/obo/NCBITaxon_5721	Trichomonas		
http://purl.obolibrary.org/obo/NCBITaxon_5722	Trichomonas vaginalis	http://purl.obolibrary.org/obo/NCBITaxon_5721	Trichomonas		
http://purl.obolibrary.org/obo/NCBITaxon_666	Vibrio cholerae	http://purl.obolibrary.org/obo/NCBITaxon_662	Vibrio		
http://purl.obolibrary.org/obo/NCBITaxon_5758	Entamoeba	http://purl.obolibrary.org/obo/NCBITaxon_33084	Entamoebidae		
http://purl.obolibrary.org/obo/NCBITaxon_5500	Coccidioides	http://purl.obolibrary.org/obo/NCBITaxon_33184	Onygenaceae		
http://purl.obolibrary.org/obo/NCBITaxon_6282	Onchocerca volvulus	http://purl.obolibrary.org/obo/NCBITaxon_6281	Onchocerca		
http://purl.obolibrary.org/obo/NCBITaxon_116925	Troglotremata	http://purl.obolibrary.org/obo/NCBITaxon_27871	Plagiorchiida		
http://purl.obolibrary.org/obo/NCBITaxon_12721	Human immunodeficiency virus	http://purl.obolibrary.org/obo/NCBITaxon_348386	unclassified Lentivirus		
http://purl.obolibrary.org/obo/NCBITaxon_99737	Echinostomatidae	http://purl.obolibrary.org/obo/NCBITaxon_404429	Echinostomatoidea		
http://purl.obolibrary.org/obo/NCBITaxon_5693	Trypanosoma cruzi	http://purl.obolibrary.org/obo/NCBITaxon_47570	Schizotrypanum		
http://purl.obolibrary.org/obo/NCBITaxon_6196	Opisthorchiidae	http://purl.obolibrary.org/obo/NCBITaxon_6194	Opisthorchiata		
http://purl.obolibrary.org/obo/NCBITaxon_2082223	Panagrolaimomorpha	http://purl.obolibrary.org/obo/NCBITaxon_6300	Tylenchina		
http://purl.obolibrary.org/obo/NCBITaxon_5738	Diplomonadida	http://purl.obolibrary.org/obo/NCBITaxon_207245	Fornicata		
http://purl.obolibrary.org/obo/NCBITaxon_29169	Ancylostoma	http://purl.obolibrary.org/obo/NCBITaxon_53469	Ancylostomatinae		
http://purl.obolibrary.org/obo/NCBITaxon_68459	Giardiinae	http://purl.obolibrary.org/obo/NCBITaxon_5739	Hexamitidae		
http://purl.obolibrary.org/obo/NCBITaxon_6251	Ascaris	http://purl.obolibrary.org/obo/NCBITaxon_6250	Ascarididae		
http://purl.obolibrary.org/obo/NCBITaxon_329110	Coquillettidia	http://purl.obolibrary.org/obo/NCBITaxon_254792	Mansoniini		
http://purl.obolibrary.org/obo/NCBITaxon_6191	Fasciola	http://purl.obolibrary.org/obo/NCBITaxon_27843	Fasciolidae		
http://purl.obolibrary.org/obo/NCBITaxon_6180	Strigeidida	http://purl.obolibrary.org/obo/NCBITaxon_6179	Digenea <flatworms>		
http://purl.obolibrary.org/obo/NCBITaxon_6295	Filarioidea	http://purl.obolibrary.org/obo/NCBITaxon_2072716	Spiruromorpha		
http://purl.obolibrary.org/obo/NCBITaxon_3052310	Mammarenavirus lassaense	http://purl.obolibrary.org/obo/NCBITaxon_2022411	unclassified Mammarenavirus		
http://purl.obolibrary.org/obo/HP_0002113	Pulmonary infiltrates	http://purl.obolibrary.org/obo/HP_0031983	Abnormal pulmonary thoracic imaging finding		
http://purl.obolibrary.org/obo/DOID_13269	hereditary coproporphyria	http://purl.obolibrary.org/obo/DOID_3133	acute porphyria		
http://purl.obolibrary.org/obo/NCBITaxon_2732396	Orthornavirae	http://purl.obolibrary.org/obo/NCBITaxon_2559587	Riboviria		
http://purl.obolibrary.org/obo/NCBITaxon_2732397	Pararnavirae	http://purl.obolibrary.org/obo/NCBITaxon_2559587	Riboviria		
http://purl.obolibrary.org/obo/NCBITaxon_216285	Trochoidea <superfamily>	http://purl.obolibrary.org/obo/NCBITaxon_2315720	Trochida		
http://purl.obolibrary.org/obo/NCBITaxon_27829	Strongyloidea	http://purl.obolibrary.org/obo/NCBITaxon_2301119	Rhabditomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_29178	Foraminifera	http://purl.obolibrary.org/obo/NCBITaxon_2662056	Retaria		
http://purl.obolibrary.org/obo/NCBITaxon_5719	Parabasalia	http://purl.obolibrary.org/obo/NCBITaxon_2611341	Metamonada		
http://purl.obolibrary.org/obo/NCBITaxon_10911	Coltivirus	http://purl.obolibrary.org/obo/NCBITaxon_2946187	Spinareoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_2960224	unclassified Ensavirinae	http://purl.obolibrary.org/obo/NCBITaxon_2946630	Ensavirinae		
http://purl.obolibrary.org/obo/NCBITaxon_12091	Hepatovirus	http://purl.obolibrary.org/obo/NCBITaxon_2946633	Heptrevirinae		
http://purl.obolibrary.org/obo/NCBITaxon_1809	Mycobacterium ulcerans	http://purl.obolibrary.org/obo/NCBITaxon_2993898	Mycobacterium ulcerans group		
http://purl.obolibrary.org/obo/NCBITaxon_6760	Scylla	http://purl.obolibrary.org/obo/NCBITaxon_600346	Portuninae		
http://purl.obolibrary.org/obo/NCBITaxon_2104	Mycoplasmoides pneumoniae	http://purl.obolibrary.org/obo/NCBITaxon_2995234	Mycoplasmoides		
http://purl.obolibrary.org/obo/UBERON_0016410	male breast	http://purl.obolibrary.org/obo/UBERON_0000310	breast		
http://purl.obolibrary.org/obo/NCBITaxon_34619	Dermacentor	http://purl.obolibrary.org/obo/NCBITaxon_426437	Rhipicephalinae		
http://purl.obolibrary.org/obo/NCBITaxon_34630	Rhipicephalus <genus>	http://purl.obolibrary.org/obo/NCBITaxon_426437	Rhipicephalinae		
http://purl.obolibrary.org/obo/SYMP_0020021	abnormal wound healing	http://purl.obolibrary.org/obo/SYMP_0000092	skin lesion		
http://purl.obolibrary.org/obo/SYMP_0020028	poor wound healing	http://purl.obolibrary.org/obo/SYMP_0000092	skin lesion		
http://purl.obolibrary.org/obo/HP_0033338	Abnormal female meiosis	http://purl.obolibrary.org/obo/HP_0031515	Abnormal meiosis		
http://purl.obolibrary.org/obo/HP_0034644	Abnormal liver metabolite concentration	http://purl.obolibrary.org/obo/HP_0032243	Abnormal tissue metabolite concentration		
http://purl.obolibrary.org/obo/NCBITaxon_34353	Dipodascaceae	http://purl.obolibrary.org/obo/NCBITaxon_3243772	Dipodascales		
http://purl.obolibrary.org/obo/DOID_572	mononeuritis of upper limb and mononeuritis multiplex	http://purl.obolibrary.org/obo/DOID_1802	mononeuritis		
http://purl.obolibrary.org/obo/DOID_9473	mononeuritis of lower limb	http://purl.obolibrary.org/obo/DOID_1802	mononeuritis		
http://purl.obolibrary.org/obo/DOID_292	lacrimal system cancer	http://purl.obolibrary.org/obo/DOID_1400	lacrimal apparatus disease		
http://purl.obolibrary.org/obo/DOID_5467	conjunctival cancer	http://purl.obolibrary.org/obo/DOID_4251	conjunctival disease		
http://purl.obolibrary.org/obo/DOID_6199	cornea cancer	http://purl.obolibrary.org/obo/DOID_10124	corneal disease		
http://purl.obolibrary.org/obo/DOID_2519	testicular disease	http://purl.obolibrary.org/obo/DOID_48	male reproductive system disease		
http://purl.obolibrary.org/obo/DOID_746	adenomatoid tumor	http://purl.obolibrary.org/obo/DOID_2645	benign mesothelioma		
http://purl.obolibrary.org/obo/DOID_5974	renal pelvis transitional cell carcinoma	http://purl.obolibrary.org/obo/DOID_4919	renal pelvis carcinoma		
http://purl.obolibrary.org/obo/DOID_1201	trigeminal nerve neoplasm	http://purl.obolibrary.org/obo/DOID_2815	cranial nerve malignant neoplasm		
http://purl.obolibrary.org/obo/DOID_12984	vagus nerve neoplasm	http://purl.obolibrary.org/obo/DOID_2815	cranial nerve malignant neoplasm		
http://purl.obolibrary.org/obo/DOID_14125	abducens nerve neoplasm	http://purl.obolibrary.org/obo/DOID_2815	cranial nerve malignant neoplasm		
http://purl.obolibrary.org/obo/DOID_409	liver disease	http://purl.obolibrary.org/obo/DOID_3118	hepatobiliary disease		
http://purl.obolibrary.org/obo/DOID_5940	malignant peripheral nerve sheath tumor	http://purl.obolibrary.org/obo/DOID_3193	peripheral nerve sheath neoplasm		
http://purl.obolibrary.org/obo/DOID_962	neurofibroma	http://purl.obolibrary.org/obo/DOID_3193	peripheral nerve sheath neoplasm		
http://purl.obolibrary.org/obo/DOID_3663	cutaneous mastocytosis	http://purl.obolibrary.org/obo/DOID_37	skin disease		
http://purl.obolibrary.org/obo/DOID_13005	intra-abdominal lymph node mast cell malignancy	http://purl.obolibrary.org/obo/DOID_10619	lymph node cancer		
http://purl.obolibrary.org/obo/DOID_369	olfactory neuroblastoma	http://purl.obolibrary.org/obo/DOID_370	malignant olfactory nerve neoplasm		
http://purl.obolibrary.org/obo/DOID_4556	lung large cell carcinoma	http://purl.obolibrary.org/obo/DOID_3908	lung non-small cell carcinoma		
http://purl.obolibrary.org/obo/DOID_1737	duodenal benign neoplasm	http://purl.obolibrary.org/obo/DOID_7505	small intestine benign neoplasm		
http://purl.obolibrary.org/obo/DOID_3558	duodenal obstruction	http://purl.obolibrary.org/obo/DOID_4072	duodenum disease		
http://purl.obolibrary.org/obo/DOID_4455	hereditary renal cell carcinoma	http://purl.obolibrary.org/obo/DOID_4450	renal cell carcinoma		
http://purl.obolibrary.org/obo/DOID_9724	purulent endophthalmitis	http://purl.obolibrary.org/obo/DOID_4692	endophthalmitis		
http://purl.obolibrary.org/obo/DOID_483	cavernous hemangioma	http://purl.obolibrary.org/obo/DOID_484	vascular hemostatic disease		
http://purl.obolibrary.org/obo/DOID_582	hemoglobinuria	http://purl.obolibrary.org/obo/DOID_576	proteinuria		
http://purl.obolibrary.org/obo/DOID_9408	acute myocardial infarction	http://purl.obolibrary.org/obo/DOID_5844	myocardial infarction		
http://purl.obolibrary.org/obo/DOID_3951	acute myocarditis	http://purl.obolibrary.org/obo/DOID_820	myocarditis		
http://purl.obolibrary.org/obo/DOID_8858	tonsil cancer	http://purl.obolibrary.org/obo/DOID_0060073	lymphatic system cancer		
http://purl.obolibrary.org/obo/DOID_9401	epididymo-orchitis	http://purl.obolibrary.org/obo/DOID_9402	epididymitis		
http://purl.obolibrary.org/obo/HP_0004322	Short stature	http://purl.obolibrary.org/obo/HP_0001510	Growth delay		
http://purl.obolibrary.org/obo/HP_0045058	Abnormality of the testis size	http://purl.obolibrary.org/obo/HP_0000035	Abnormal testis morphology		
http://purl.obolibrary.org/obo/HP_0100600	Penoscrotal transposition	http://purl.obolibrary.org/obo/HP_0000045	Abnormal scrotum morphology		
http://purl.obolibrary.org/obo/HP_0030263	Torsion of the penis	http://purl.obolibrary.org/obo/HP_0000036	Abnormal penis morphology		
http://purl.obolibrary.org/obo/HP_0030264	Webbed penis	http://purl.obolibrary.org/obo/HP_0000036	Abnormal penis morphology		
http://purl.obolibrary.org/obo/HP_0032076	Abnormal male urethral meatus morphology	http://purl.obolibrary.org/obo/HP_0000036	Abnormal penis morphology		
http://purl.obolibrary.org/obo/HP_0008734	Decreased testicular size	http://purl.obolibrary.org/obo/HP_0010468	Aplasia/Hypoplasia of the testes		
http://purl.obolibrary.org/obo/HP_0040252	Abnormal size of the clitoris	http://purl.obolibrary.org/obo/HP_0000056	Abnormal clitoris morphology		
http://purl.obolibrary.org/obo/HP_0025633	Abnormal ureter morphology	http://purl.obolibrary.org/obo/HP_0000069	Abnormality of the ureter		
http://purl.obolibrary.org/obo/HP_0025634	Abnormal ureter physiology	http://purl.obolibrary.org/obo/HP_0000069	Abnormality of the ureter		
http://purl.obolibrary.org/obo/HP_0012874	Abnormal male reproductive system physiology	http://purl.obolibrary.org/obo/HP_0000080	Abnormality of reproductive system physiology		
http://purl.obolibrary.org/obo/HP_0033337	Abnormal gametogenesis	http://purl.obolibrary.org/obo/HP_0000080	Abnormality of reproductive system physiology		
http://purl.obolibrary.org/obo/HP_0004736	Crossed fused renal ectopia	http://purl.obolibrary.org/obo/HP_0000086	Ectopic kidney		
http://purl.obolibrary.org/obo/HP_0001548	Overgrowth	http://purl.obolibrary.org/obo/HP_0000098	Tall stature		
http://purl.obolibrary.org/obo/HP_0100877	Renal diverticulum	http://purl.obolibrary.org/obo/HP_0004742	Abnormal renal collecting system morphology		
http://purl.obolibrary.org/obo/HP_0000707	Abnormality of the nervous system	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0001510	Growth delay	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0025031	Abnormality of the digestive system	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0040064	Abnormality of limbs	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0025354	Abnormal cellular phenotype	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0033127	Abnormality of the musculoskeletal system	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0031105	Abnormal uterus morphology	http://purl.obolibrary.org/obo/HP_0000130	Abnormality of the uterus		
http://purl.obolibrary.org/obo/HP_0031816	Abnormal oral morphology	http://purl.obolibrary.org/obo/HP_0000153	Abnormality of the mouth		
http://purl.obolibrary.org/obo/HP_0006483	Abnormal number of teeth	http://purl.obolibrary.org/obo/HP_0000164	Abnormality of the dentition		
http://purl.obolibrary.org/obo/HP_0000271	Abnormality of the face	http://purl.obolibrary.org/obo/HP_0000234	Abnormality of the head		
http://purl.obolibrary.org/obo/HP_0040194	Increased head circumference	http://purl.obolibrary.org/obo/HP_0000240	Abnormality of skull size		
http://purl.obolibrary.org/obo/HP_0040195	Decreased head circumference	http://purl.obolibrary.org/obo/HP_0000240	Abnormality of skull size		
http://purl.obolibrary.org/obo/HP_0000275	Narrow face	http://purl.obolibrary.org/obo/HP_0000274	Small face		
http://purl.obolibrary.org/obo/HP_0000278	Retrognathia	http://purl.obolibrary.org/obo/HP_0000277	Abnormal mandible morphology		
http://purl.obolibrary.org/obo/HP_0011220	Prominent forehead	http://purl.obolibrary.org/obo/HP_0000290	Abnormal forehead morphology		
http://purl.obolibrary.org/obo/HP_0010668	Abnormal zygomatic bone morphology	http://purl.obolibrary.org/obo/HP_0011821	Abnormal facial skeleton morphology		
http://purl.obolibrary.org/obo/HP_0011800	Midface retrusion	http://purl.obolibrary.org/obo/HP_0000309	Abnormal midface morphology		
http://purl.obolibrary.org/obo/HP_0008609	Abnormal middle ear morphology	http://purl.obolibrary.org/obo/HP_0000370	Abnormality of the middle ear		
http://purl.obolibrary.org/obo/HP_0011486	Abnormal corneal thickness	http://purl.obolibrary.org/obo/HP_0000481	Abnormal cornea morphology		
http://purl.obolibrary.org/obo/HP_0012795	Abnormal optic disc morphology	http://purl.obolibrary.org/obo/HP_0000587	Abnormal optic nerve morphology		
http://purl.obolibrary.org/obo/HP_0100033	Tics	http://purl.obolibrary.org/obo/HP_0000722	Compulsive behaviors		
http://purl.obolibrary.org/obo/HP_0006711	Aplasia/Hypoplasia involving bones of the thorax	http://purl.obolibrary.org/obo/HP_0009122	Aplasia/hypoplasia affecting bones of the axial skeleton		
http://purl.obolibrary.org/obo/HP_0000768	Pectus carinatum	http://purl.obolibrary.org/obo/HP_0000766	Abnormal sternum morphology		
http://purl.obolibrary.org/obo/HP_0031093	Abnormal breast morphology	http://purl.obolibrary.org/obo/HP_0000769	Abnormality of the breast		
http://purl.obolibrary.org/obo/HP_0008706	Distal urethral duplication	http://purl.obolibrary.org/obo/HP_0000795	Abnormality of the urethra		
http://purl.obolibrary.org/obo/HP_0010481	Urethral valve	http://purl.obolibrary.org/obo/HP_0000796	Urethral obstruction		
http://purl.obolibrary.org/obo/HP_0034378	Urethrovesical occlusion	http://purl.obolibrary.org/obo/HP_0000796	Urethral obstruction		
http://purl.obolibrary.org/obo/HP_0000777	Abnormal thymus morphology	http://purl.obolibrary.org/obo/HP_0100763	Abnormality of the lymphatic system		
http://purl.obolibrary.org/obo/HP_0200000	Dysharmonic skeletal maturation	http://purl.obolibrary.org/obo/HP_0000927	Abnormality of skeletal maturation		
http://purl.obolibrary.org/obo/HP_0009116	Aplasia/Hypoplasia involving bones of the skull	http://purl.obolibrary.org/obo/HP_0009122	Aplasia/hypoplasia affecting bones of the axial skeleton		
http://purl.obolibrary.org/obo/HP_0031158	Widened atrophic scar	http://purl.obolibrary.org/obo/HP_0001075	Atrophic scars		
http://purl.obolibrary.org/obo/HP_0034057	Fetal anomaly	http://purl.obolibrary.org/obo/HP_0001197	Abnormality of prenatal development or birth		
http://purl.obolibrary.org/obo/HP_0002344	Progressive neurologic deterioration	http://purl.obolibrary.org/obo/HP_0001268	Mental deterioration		
http://purl.obolibrary.org/obo/HP_0033725	Thin corpus callosum	http://purl.obolibrary.org/obo/HP_0001273	Abnormal corpus callosum morphology		
http://purl.obolibrary.org/obo/HP_0001373	Joint dislocation	http://purl.obolibrary.org/obo/HP_0001367	Abnormal joint morphology		
http://purl.obolibrary.org/obo/HP_0005217	Abdominal organ duplication	http://purl.obolibrary.org/obo/HP_0001438	Abnormal abdomen morphology		
http://purl.obolibrary.org/obo/HP_0025276	Abnormality of skin adnexa physiology	http://purl.obolibrary.org/obo/HP_0001574	Abnormality of the integument		
http://purl.obolibrary.org/obo/HP_0030680	Abnormal cardiovascular system morphology	http://purl.obolibrary.org/obo/HP_0001626	Abnormality of the cardiovascular system		
http://purl.obolibrary.org/obo/HP_0033796	Abnormal leukocyte physiology	http://purl.obolibrary.org/obo/HP_0010978	Abnormality of immune system physiology		
http://purl.obolibrary.org/obo/HP_0011875	Abnormal platelet morphology	http://purl.obolibrary.org/obo/HP_0001872	Abnormality of thrombocytes		
http://purl.obolibrary.org/obo/HP_0020064	Abnormal total eosinophil count	http://purl.obolibrary.org/obo/HP_0032309	Abnormal granulocyte count		
http://purl.obolibrary.org/obo/HP_0001762	Talipes equinovarus	http://purl.obolibrary.org/obo/HP_0001883	Talipes		
http://purl.obolibrary.org/obo/HP_0032309	Abnormal granulocyte count	http://purl.obolibrary.org/obo/HP_0011893	Abnormal leukocyte count		
http://purl.obolibrary.org/obo/HP_0012337	Abnormal homeostasis	http://purl.obolibrary.org/obo/HP_0001939	Abnormality of metabolism/homeostasis		
http://purl.obolibrary.org/obo/HP_0032180	Abnormal circulating metabolite concentration	http://purl.obolibrary.org/obo/HP_0001939	Abnormality of metabolism/homeostasis		
http://purl.obolibrary.org/obo/HP_0032243	Abnormal tissue metabolite concentration	http://purl.obolibrary.org/obo/HP_0001939	Abnormality of metabolism/homeostasis		
http://purl.obolibrary.org/obo/HP_0032245	Abnormal metabolism	http://purl.obolibrary.org/obo/HP_0001939	Abnormality of metabolism/homeostasis		
http://purl.obolibrary.org/obo/HP_0006530	Abnormal pulmonary interstitial morphology	http://purl.obolibrary.org/obo/HP_0002088	Abnormal lung morphology		
http://purl.obolibrary.org/obo/HP_0000750	Delayed speech and language development	http://purl.obolibrary.org/obo/HP_0012758	Neurodevelopmental delay		
http://purl.obolibrary.org/obo/HP_0025015	Abnormal vascular morphology	http://purl.obolibrary.org/obo/HP_0030680	Abnormal cardiovascular system morphology		
http://purl.obolibrary.org/obo/HP_0430000	Abnormal frontal bone morphology	http://purl.obolibrary.org/obo/HP_0002683	Abnormal calvaria morphology		
http://purl.obolibrary.org/obo/HP_0032251	Abnormal immune system morphology	http://purl.obolibrary.org/obo/HP_0002715	Abnormality of the immune system		
http://purl.obolibrary.org/obo/HP_0005832	Dysharmonic delayed bone age	http://purl.obolibrary.org/obo/HP_0200000	Dysharmonic skeletal maturation		
http://purl.obolibrary.org/obo/HP_0040069	Abnormal lower limb bone morphology	http://purl.obolibrary.org/obo/HP_0002814	Abnormality of the lower limb		
http://purl.obolibrary.org/obo/HP_0034669	Abnormal knee morphology	http://purl.obolibrary.org/obo/HP_0002815	Abnormality of the knee		
http://purl.obolibrary.org/obo/HP_0002970	Genu varum	http://purl.obolibrary.org/obo/HP_0034669	Abnormal knee morphology		
http://purl.obolibrary.org/obo/HP_0033354	Abnormal urine metabolite level	http://purl.obolibrary.org/obo/HP_0003110	Abnormality of urine homeostasis		
http://purl.obolibrary.org/obo/HP_0033107	Abnormal circulating proteinogenic amino acid concentration	http://purl.obolibrary.org/obo/HP_0003112	Abnormal circulating amino acid concentration		
http://purl.obolibrary.org/obo/HP_0007182	Peripheral hypomyelination	http://purl.obolibrary.org/obo/HP_0003130	Abnormal peripheral myelination		
http://purl.obolibrary.org/obo/HP_0002503	Spinocerebellar tract degeneration	http://purl.obolibrary.org/obo/HP_0003133	Abnormal spinocerebellar tract morphology		
http://purl.obolibrary.org/obo/HP_0000926	Platyspondyly	http://purl.obolibrary.org/obo/HP_0003312	Abnormal form of the vertebral bodies		
http://purl.obolibrary.org/obo/HP_0004566	Pear-shaped vertebrae	http://purl.obolibrary.org/obo/HP_0003312	Abnormal form of the vertebral bodies		
http://purl.obolibrary.org/obo/HP_0002812	Coxa vara	http://purl.obolibrary.org/obo/HP_0003367	Abnormal femoral neck morphology		
http://purl.obolibrary.org/obo/HP_0003521	Disproportionate short-trunk short stature	http://purl.obolibrary.org/obo/HP_0009121	Abnormal axial skeleton morphology		
http://purl.obolibrary.org/obo/HP_0008873	Disproportionate short-limb short stature	http://purl.obolibrary.org/obo/HP_0003498	Disproportionate short stature		
http://purl.obolibrary.org/obo/HP_0003510	Severe short stature	http://purl.obolibrary.org/obo/HP_0003508	Proportionate short stature		
http://purl.obolibrary.org/obo/HP_0100699	Scarring	http://purl.obolibrary.org/obo/HP_0003549	Abnormality of connective tissue		
http://purl.obolibrary.org/obo/HP_0001252	Hypotonia	http://purl.obolibrary.org/obo/HP_0003808	Abnormal muscle tone		
http://purl.obolibrary.org/obo/HP_0001824	Weight loss	http://purl.obolibrary.org/obo/HP_0004325	Decreased body weight		
http://purl.obolibrary.org/obo/HP_0040126	Abnormal circulating vitamin B12 concentration	http://purl.obolibrary.org/obo/HP_0004341	Abnormality of vitamin B12 metabolism		
http://purl.obolibrary.org/obo/HP_0032368	Acidemia	http://purl.obolibrary.org/obo/HP_0004360	Abnormality of acid-base homeostasis		
http://purl.obolibrary.org/obo/HP_0000774	Narrow chest	http://purl.obolibrary.org/obo/HP_0005257	Thoracic hypoplasia		
http://purl.obolibrary.org/obo/HP_0010701	Abnormal circulating immunoglobulin concentration	http://purl.obolibrary.org/obo/HP_0005368	Abnormality of humoral immunity		
http://purl.obolibrary.org/obo/HP_0001022	Albinism	http://purl.obolibrary.org/obo/HP_0007513	Generalized hypopigmentation		
http://purl.obolibrary.org/obo/HP_0000972	Palmoplantar hyperkeratosis	http://purl.obolibrary.org/obo/HP_0010765	Palmar hyperkeratosis		
http://purl.obolibrary.org/obo/HP_0031038	Spermatogenesis maturation arrest	http://purl.obolibrary.org/obo/HP_0008669	Abnormal spermatogenesis		
http://purl.obolibrary.org/obo/HP_0000347	Micrognathia	http://purl.obolibrary.org/obo/HP_0009118	Aplasia/Hypoplasia of the mandible		
http://purl.obolibrary.org/obo/HP_0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	http://purl.obolibrary.org/obo/HP_0009115	Aplasia/hypoplasia involving the skeleton		
http://purl.obolibrary.org/obo/HP_0002983	Micromelia	http://purl.obolibrary.org/obo/HP_0009826	Limb undergrowth		
http://purl.obolibrary.org/obo/HP_0003027	Mesomelia	http://purl.obolibrary.org/obo/HP_0009826	Limb undergrowth		
http://purl.obolibrary.org/obo/HP_0003187	Breast hypoplasia	http://purl.obolibrary.org/obo/HP_0010311	Aplasia/Hypoplasia of the breasts		
http://purl.obolibrary.org/obo/HP_0003307	Hyperlordosis	http://purl.obolibrary.org/obo/HP_0010674	Abnormal curvature of the vertebral column		
http://purl.obolibrary.org/obo/HP_0003231	Hypertyrosinemia	http://purl.obolibrary.org/obo/HP_0010917	Abnormal circulating tyrosine concentration		
http://purl.obolibrary.org/obo/HP_0005368	Abnormality of humoral immunity	http://purl.obolibrary.org/obo/HP_0010978	Abnormality of immune system physiology		
http://purl.obolibrary.org/obo/HP_0012647	Abnormal inflammatory response	http://purl.obolibrary.org/obo/HP_0010978	Abnormality of immune system physiology		
http://purl.obolibrary.org/obo/HP_0032101	Unusual infection	http://purl.obolibrary.org/obo/HP_0010978	Abnormality of immune system physiology		
http://purl.obolibrary.org/obo/HP_0030976	Abnormal factor VIII activity	http://purl.obolibrary.org/obo/HP_0010989	Abnormality of the intrinsic pathway		
http://purl.obolibrary.org/obo/HP_0031653	Abnormal heart valve physiology	http://purl.obolibrary.org/obo/HP_0011025	Abnormal cardiovascular system physiology		
http://purl.obolibrary.org/obo/HP_0011028	Abnormality of blood circulation	http://purl.obolibrary.org/obo/HP_0011025	Abnormal cardiovascular system physiology		
http://purl.obolibrary.org/obo/HP_0030956	Abnormality of cardiovascular system electrophysiology	http://purl.obolibrary.org/obo/HP_0011025	Abnormal cardiovascular system physiology		
http://purl.obolibrary.org/obo/HP_0001789	Hydrops fetalis	http://purl.obolibrary.org/obo/HP_0034058	Abnormal fetal morphology		
http://purl.obolibrary.org/obo/HP_0031263	Abnormal renal corpuscle morphology	http://purl.obolibrary.org/obo/HP_0012575	Abnormal nephron morphology		
http://purl.obolibrary.org/obo/HP_0001000	Abnormality of skin pigmentation	http://purl.obolibrary.org/obo/HP_0011121	Abnormal skin morphology		
http://purl.obolibrary.org/obo/HP_0040211	Abnormal skin morphology of the palm	http://purl.obolibrary.org/obo/HP_0100871	Abnormal palm morphology		
http://purl.obolibrary.org/obo/HP_0008070	Sparse hair	http://purl.obolibrary.org/obo/HP_0011362	Abnormal hair quantity		
http://purl.obolibrary.org/obo/HP_0000962	Hyperkeratosis	http://purl.obolibrary.org/obo/HP_0011368	Epidermal thickening		
http://purl.obolibrary.org/obo/HP_0007431	Congenital ichthyosiform erythroderma	http://purl.obolibrary.org/obo/HP_0011368	Epidermal thickening		
http://purl.obolibrary.org/obo/HP_0010945	Fetal pyelectasis	http://purl.obolibrary.org/obo/HP_0010944	Abnormal renal pelvis morphology		
http://purl.obolibrary.org/obo/HP_4000074	Involuntary vocalization	http://purl.obolibrary.org/obo/HP_0011442	Abnormal central motor function		
http://purl.obolibrary.org/obo/HP_5200241	Recurrent maladaptive behavior	http://purl.obolibrary.org/obo/HP_0011446	Abnormality of mental function		
http://purl.obolibrary.org/obo/HP_0025766	Abnormal affect	http://purl.obolibrary.org/obo/HP_0011446	Abnormality of mental function		
http://purl.obolibrary.org/obo/HP_0025792	Abnormal cognitive process	http://purl.obolibrary.org/obo/HP_0011446	Abnormality of mental function		
http://purl.obolibrary.org/obo/HP_0003202	Skeletal muscle atrophy	http://purl.obolibrary.org/obo/HP_0011805	Abnormal skeletal muscle morphology		
http://purl.obolibrary.org/obo/HP_0030791	Abnormal jaw morphology	http://purl.obolibrary.org/obo/HP_0011821	Abnormal facial skeleton morphology		
http://purl.obolibrary.org/obo/HP_0009115	Aplasia/hypoplasia involving the skeleton	http://purl.obolibrary.org/obo/HP_0011842	Abnormal skeletal morphology		
http://purl.obolibrary.org/obo/HP_0004348	Abnormality of bone mineral density	http://purl.obolibrary.org/obo/HP_0011849	Abnormal bone ossification		
http://purl.obolibrary.org/obo/HP_0004712	Renal malrotation	http://purl.obolibrary.org/obo/HP_0012210	Abnormal renal morphology		
http://purl.obolibrary.org/obo/HP_0010944	Abnormal renal pelvis morphology	http://purl.obolibrary.org/obo/HP_0012210	Abnormal renal morphology		
http://purl.obolibrary.org/obo/HP_0000083	Renal insufficiency	http://purl.obolibrary.org/obo/HP_0012211	Abnormal renal physiology		
http://purl.obolibrary.org/obo/HP_0012212	Abnormal glomerular filtration rate	http://purl.obolibrary.org/obo/HP_0012211	Abnormal renal physiology		
http://purl.obolibrary.org/obo/HP_0011282	Abnormal hindbrain morphology	http://purl.obolibrary.org/obo/HP_0012443	Abnormal brain morphology		
http://purl.obolibrary.org/obo/HP_0033259	Non-motor seizure	http://purl.obolibrary.org/obo/HP_0012638	Abnormal nervous system physiology		
http://purl.obolibrary.org/obo/HP_0012759	Neurodevelopmental abnormality	http://purl.obolibrary.org/obo/HP_0012638	Abnormal nervous system physiology		
http://purl.obolibrary.org/obo/HP_0012641	Decreased intracranial pressure	http://purl.obolibrary.org/obo/HP_0012640	Abnormality of intracranial pressure		
http://purl.obolibrary.org/obo/HP_0030895	Abnormal gastrointestinal motility	http://purl.obolibrary.org/obo/HP_0012719	Functional abnormality of the gastrointestinal tract		
http://purl.obolibrary.org/obo/HP_0012435	Ventral shortening of foreskin	http://purl.obolibrary.org/obo/HP_0100587	Abnormal preputium morphology		
http://purl.obolibrary.org/obo/HP_0100765	Abnormality of the tonsils	http://purl.obolibrary.org/obo/HP_0100763	Abnormality of the lymphatic system		
http://purl.obolibrary.org/obo/NCBITaxon_2842242	Ribozyviria	http://purl.obolibrary.org/obo/NCBITaxon_10239	Viruses		
http://purl.obolibrary.org/obo/NCBITaxon_2731341	Duplodnaviria	http://purl.obolibrary.org/obo/NCBITaxon_10239	Viruses		
http://purl.obolibrary.org/obo/NCBITaxon_2731342	Monodnaviria	http://purl.obolibrary.org/obo/NCBITaxon_10239	Viruses		
http://purl.obolibrary.org/obo/NCBITaxon_2732004	Varidnaviria	http://purl.obolibrary.org/obo/NCBITaxon_10239	Viruses		
http://purl.obolibrary.org/obo/NCBITaxon_2955291	Alphainfluenzavirus influenzae	http://purl.obolibrary.org/obo/NCBITaxon_197911	Alphainfluenzavirus		
http://purl.obolibrary.org/obo/NCBITaxon_2955935	Gammainfluenzavirus influenzae	http://purl.obolibrary.org/obo/NCBITaxon_197913	Gammainfluenzavirus		
http://purl.obolibrary.org/obo/NCBITaxon_6032	Apansporoblastina	http://purl.obolibrary.org/obo/NCBITaxon_6029	Microsporidia		
http://purl.obolibrary.org/obo/NCBITaxon_44534	Cellia	http://purl.obolibrary.org/obo/NCBITaxon_7164	Anopheles <genus>		
http://purl.obolibrary.org/obo/UBERON_0002133	atrioventricular valve	http://purl.obolibrary.org/obo/UBERON_0000946	cardiac valve		
http://purl.obolibrary.org/obo/UBERON_0005623	semi-lunar valve	http://purl.obolibrary.org/obo/UBERON_0000946	cardiac valve		
http://purl.obolibrary.org/obo/UBERON_0000992	ovary	http://purl.obolibrary.org/obo/UBERON_0003134	female reproductive organ		
http://purl.obolibrary.org/obo/UBERON_0001702	eyelash	http://purl.obolibrary.org/obo/UBERON_0001037	strand of hair		
http://purl.obolibrary.org/obo/UBERON_0016446	hair of head	http://purl.obolibrary.org/obo/UBERON_0001037	strand of hair		
http://purl.obolibrary.org/obo/UBERON_0001361	femoral vein	http://purl.obolibrary.org/obo/UBERON_0003516	hindlimb blood vessel		
http://purl.obolibrary.org/obo/UBERON_0005610	iliac vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0002017	portal vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0003479	thoracic cavity vein	http://purl.obolibrary.org/obo/UBERON_0003519	thoracic cavity blood vessel		
http://purl.obolibrary.org/obo/UBERON_0009141	craniocervical region vein	http://purl.obolibrary.org/obo/UBERON_0013140	systemic vein		
http://purl.obolibrary.org/obo/UBERON_0013140	systemic vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0001644	trochlear nerve	http://purl.obolibrary.org/obo/UBERON_0001785	cranial nerve		
http://purl.obolibrary.org/obo/UBERON_0001646	abducens nerve	http://purl.obolibrary.org/obo/UBERON_0001785	cranial nerve		
http://purl.obolibrary.org/obo/UBERON_0001648	vestibulocochlear nerve	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0001650	hypoglossal nerve	http://purl.obolibrary.org/obo/UBERON_0001785	cranial nerve		
http://purl.obolibrary.org/obo/UBERON_0001759	vagus nerve	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0001134	skeletal muscle tissue	http://purl.obolibrary.org/obo/UBERON_0002036	striated muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0002036	striated muscle tissue	http://purl.obolibrary.org/obo/UBERON_0002385	muscle tissue		
http://purl.obolibrary.org/obo/UBERON_8600004	visceral muscle tissue	http://purl.obolibrary.org/obo/UBERON_0002385	muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0000976	humerus	http://purl.obolibrary.org/obo/UBERON_0015053	humerus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0000979	tibia	http://purl.obolibrary.org/obo/UBERON_0015004	tibia endochondral element		
http://purl.obolibrary.org/obo/UBERON_0003606	limb long bone	http://purl.obolibrary.org/obo/UBERON_0002428	limb bone		
http://purl.obolibrary.org/obo/UBERON_0003607	forelimb long bone	http://purl.obolibrary.org/obo/UBERON_0008962	forelimb bone		
http://purl.obolibrary.org/obo/UBERON_0003608	hindlimb long bone	http://purl.obolibrary.org/obo/UBERON_0003606	limb long bone		
http://purl.obolibrary.org/obo/UBERON_0012177	skin apocrine gland	http://purl.obolibrary.org/obo/UBERON_0019319	exocrine gland of integumental system		
http://purl.obolibrary.org/obo/UBERON_0001255	urinary bladder	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0002110	gallbladder	http://purl.obolibrary.org/obo/UBERON_0017672	abdominal viscera		
http://purl.obolibrary.org/obo/SYMP_0000307	inibility to stand	http://purl.obolibrary.org/obo/SYMP_0000329	motor weakness		
http://purl.obolibrary.org/obo/SYMP_0020010	blurred vision with haloes	http://purl.obolibrary.org/obo/SYMP_0000012	blurred vision		
http://purl.obolibrary.org/obo/SYMP_0020003	acholic stool	http://purl.obolibrary.org/obo/SYMP_0000146	feces and droppings symptom		
http://purl.obolibrary.org/obo/SYMP_0000229	bloody stool	http://purl.obolibrary.org/obo/SYMP_0000146	feces and droppings symptom		
http://purl.obolibrary.org/obo/SYMP_0000296	hepatic dysfunction	http://purl.obolibrary.org/obo/SYMP_0000180	liver symptom		
http://purl.obolibrary.org/obo/SYMP_0000350	parotid abscess	http://purl.obolibrary.org/obo/SYMP_0000205	salivary gland symptom		
http://purl.obolibrary.org/obo/SYMP_0000224	leg weakness	http://purl.obolibrary.org/obo/SYMP_0000222	limb weakness		
http://purl.obolibrary.org/obo/SYMP_0000220	areflexia	http://purl.obolibrary.org/obo/SYMP_0000249	reflex symptom		
http://purl.obolibrary.org/obo/SYMP_0000256	diminished gag reflex	http://purl.obolibrary.org/obo/SYMP_0000249	reflex symptom		
http://purl.obolibrary.org/obo/SYMP_0000273	clonic seizure	http://purl.obolibrary.org/obo/SYMP_0000267	generalized seizure		
http://purl.obolibrary.org/obo/SYMP_0000313	joint inflammation	http://purl.obolibrary.org/obo/SYMP_0000312	joint symptom		
http://purl.obolibrary.org/obo/SYMP_0000160	tracheobronchitis	http://purl.obolibrary.org/obo/SYMP_0000385	throat symptom		
http://purl.obolibrary.org/obo/SYMP_0019181	hoarseness	http://purl.obolibrary.org/obo/SYMP_0000385	throat symptom		
http://purl.obolibrary.org/obo/SYMP_0020055	pharynx inflammation	http://purl.obolibrary.org/obo/SYMP_0000385	throat symptom		
http://purl.obolibrary.org/obo/SYMP_0000554	left lower quadrant abdominal rigidity	http://purl.obolibrary.org/obo/SYMP_0000454	abdominal rigidity		
http://purl.obolibrary.org/obo/SYMP_0000471	multiple sites abdominal rigidity	http://purl.obolibrary.org/obo/SYMP_0000454	abdominal rigidity		
http://purl.obolibrary.org/obo/SYMP_0000562	right upper quadrant abdominal swelling	http://purl.obolibrary.org/obo/SYMP_0000478	abdominal swelling		
http://purl.obolibrary.org/obo/SYMP_0000496	epigastric abdominal tenderness	http://purl.obolibrary.org/obo/SYMP_0000484	abdominal tenderness		
http://purl.obolibrary.org/obo/SYMP_0000591	left upper quadrant abdominal tenderness	http://purl.obolibrary.org/obo/SYMP_0000484	abdominal tenderness		
http://purl.obolibrary.org/obo/SYMP_0019142	lymphadenopathy	http://purl.obolibrary.org/obo/SYMP_0000521	enlargement of lymph nodes		
http://purl.obolibrary.org/obo/SYMP_0000736	lymph gland swelling	http://purl.obolibrary.org/obo/SYMP_0000716	swelling symptom		
http://purl.obolibrary.org/obo/SYMP_0000717	leg swelling	http://purl.obolibrary.org/obo/SYMP_0000716	swelling symptom		
http://purl.obolibrary.org/obo/SYMP_0000786	generalized pelvic mass	http://purl.obolibrary.org/obo/SYMP_0000772	pelvic mass		
http://purl.obolibrary.org/obo/SYMP_0000784	epigastric pelvic mass	http://purl.obolibrary.org/obo/SYMP_0000772	pelvic mass		
http://purl.obolibrary.org/obo/SYMP_0000776	epigastric pelvic lump	http://purl.obolibrary.org/obo/SYMP_0000773	pelvic lump		
http://purl.obolibrary.org/obo/SYMP_0000802	epigastric abdominal mass	http://purl.obolibrary.org/obo/SYMP_0000798	abdominal mass		
http://purl.obolibrary.org/obo/SYMP_0000809	periumbilic abdominal lump	http://purl.obolibrary.org/obo/SYMP_0000799	abdominal lump		
http://purl.obolibrary.org/obo/SYMP_0000813	right upper quadrant abdominal lump	http://purl.obolibrary.org/obo/SYMP_0000799	abdominal lump		
http://purl.obolibrary.org/obo/SYMP_0000158	spleen symptom	http://purl.obolibrary.org/obo/SYMP_0019138	immune system symptom		
http://purl.obolibrary.org/obo/SYMP_0019141	lymphatic system symptom	http://purl.obolibrary.org/obo/SYMP_0019138	immune system symptom		
http://purl.obolibrary.org/obo/SYMP_0000208	anemia	http://purl.obolibrary.org/obo/SYMP_0019139	hemic system symptom		
http://purl.obolibrary.org/obo/SYMP_0000634	leukocytosis	http://purl.obolibrary.org/obo/SYMP_0019139	hemic system symptom		
http://purl.obolibrary.org/obo/SYMP_0019143	coagulopathy	http://purl.obolibrary.org/obo/SYMP_0019139	hemic system symptom		
http://purl.obolibrary.org/obo/SYMP_0000691	cytopenia	http://purl.obolibrary.org/obo/SYMP_0019139	hemic system symptom		
http://purl.obolibrary.org/obo/SYMP_0019148	septicemia	http://purl.obolibrary.org/obo/SYMP_0019139	hemic system symptom		
http://purl.obolibrary.org/obo/SYMP_0019146	hyponatremia	http://purl.obolibrary.org/obo/SYMP_0019139	hemic system symptom		
http://purl.obolibrary.org/obo/SYMP_0000182	bubo	http://purl.obolibrary.org/obo/SYMP_0019155	lymphadenitis		
http://purl.obolibrary.org/obo/HP_0032465	Bladder trabeculation	http://purl.obolibrary.org/obo/HP_0025487	Abnormal bladder morphology		
http://purl.obolibrary.org/obo/HP_0006561	Lipid accumulation in hepatocytes	http://purl.obolibrary.org/obo/HP_0031137	Storage in hepatocytes		
http://purl.obolibrary.org/obo/NCBITaxon_15956	Phleum	http://purl.obolibrary.org/obo/NCBITaxon_2948964	Phleinae		
http://purl.obolibrary.org/obo/NCBITaxon_1678143	Paslahepevirus balayani	http://purl.obolibrary.org/obo/NCBITaxon_2948857	Paslahepevirus		
http://purl.obolibrary.org/obo/NCBITaxon_766764	Debaryomycetaceae	http://purl.obolibrary.org/obo/NCBITaxon_2916678	Serinales		
http://purl.obolibrary.org/obo/NCBITaxon_6937	Ornithodoros	http://purl.obolibrary.org/obo/NCBITaxon_2945031	Ornithodorinae		
http://purl.obolibrary.org/obo/NCBITaxon_186541	Tai Forest ebolavirus	http://purl.obolibrary.org/obo/NCBITaxon_3052461	Orthoebolavirus taiense		
http://purl.obolibrary.org/obo/NCBITaxon_206160	Sandfly fever Naples virus	http://purl.obolibrary.org/obo/NCBITaxon_3052666	Phlebovirus napoliense		
http://purl.obolibrary.org/obo/NCBITaxon_2560602	Mumps orthorubulavirus	http://purl.obolibrary.org/obo/NCBITaxon_3052560	Orthorubulavirus parotitidis		
http://purl.obolibrary.org/obo/NCBITaxon_28292	sandfly fever Sicilian virus	http://purl.obolibrary.org/obo/NCBITaxon_3052681	Phlebovirus siciliaense		
http://purl.obolibrary.org/obo/CHEBI_47016	tetrahydrofuranone	http://purl.obolibrary.org/obo/CHEBI_26912	oxolanes		
http://purl.obolibrary.org/obo/CHEBI_39410	1,2,4-triazines	http://purl.obolibrary.org/obo/CHEBI_38102	triazines		
http://purl.obolibrary.org/obo/CHEBI_45924	trimethoprim	http://purl.obolibrary.org/obo/CHEBI_51683	methoxybenzenes		
http://purl.obolibrary.org/obo/CHEBI_33860	aromatic amine	http://purl.obolibrary.org/obo/CHEBI_33659	organic aromatic compound		
http://purl.obolibrary.org/obo/CHEBI_50995	secondary amino compound	http://purl.obolibrary.org/obo/CHEBI_50047	organic amino compound		
http://purl.obolibrary.org/obo/CHEBI_50996	tertiary amino compound	http://purl.obolibrary.org/obo/CHEBI_50047	organic amino compound		
http://purl.obolibrary.org/obo/CHEBI_35467	phosphorodiamide	http://purl.obolibrary.org/obo/CHEBI_17102	phosphoramide		
http://purl.obolibrary.org/obo/CHEBI_36683	organochlorine compound	http://purl.obolibrary.org/obo/CHEBI_23117	chlorine molecular entity		
http://purl.obolibrary.org/obo/CHEBI_133004	bisbenzylisoquinoline alkaloid	http://purl.obolibrary.org/obo/CHEBI_22750	benzylisoquinoline alkaloid		
http://purl.obolibrary.org/obo/CHEBI_16899	D-mannitol	http://purl.obolibrary.org/obo/CHEBI_29864	mannitol		
http://purl.obolibrary.org/obo/CHEBI_35681	secondary alcohol	http://purl.obolibrary.org/obo/CHEBI_30879	alcohol		
http://purl.obolibrary.org/obo/CHEBI_53018	2,4-dinitrophenyl group	http://purl.obolibrary.org/obo/CHEBI_33249	organyl group		
http://purl.obolibrary.org/obo/CHEBI_33859	aromatic carboxylic acid	http://purl.obolibrary.org/obo/CHEBI_33575	carboxylic acid		
http://purl.obolibrary.org/obo/CHEBI_33704	alpha-amino acid	http://purl.obolibrary.org/obo/CHEBI_33709	amino acid		
http://purl.obolibrary.org/obo/CHEBI_15400	(-)-carvone	http://purl.obolibrary.org/obo/CHEBI_38265	carvone		
http://purl.obolibrary.org/obo/CHEBI_28593	quinidine	http://purl.obolibrary.org/obo/CHEBI_51323	cinchona alkaloid		
http://purl.obolibrary.org/obo/CHEBI_53213	diisocyanate	http://purl.obolibrary.org/obo/CHEBI_53212	isocyanates		
http://purl.obolibrary.org/obo/CL_0011115	precursor cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_4033054	perivascular cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_4023154	myelinating glial cell	http://purl.obolibrary.org/obo/CL_0000125	glial cell		
http://purl.obolibrary.org/obo/CL_0008019	mesenchymal cell	http://purl.obolibrary.org/obo/CL_0000219	motile cell		
http://purl.obolibrary.org/obo/CL_0001201	B cell, CD19-positive	http://purl.obolibrary.org/obo/CL_0001200	lymphocyte of B lineage, CD19-positive		
http://purl.obolibrary.org/obo/CL_4052061	epidermal keratinocyte	http://purl.obolibrary.org/obo/CL_0000362	epidermal cell		
http://purl.obolibrary.org/obo/CL_2000029	central nervous system neuron	http://purl.obolibrary.org/obo/CL_0000540	neuron		
http://purl.obolibrary.org/obo/CL_0001065	innate lymphoid cell	http://purl.obolibrary.org/obo/CL_0000542	lymphocyte		
http://purl.obolibrary.org/obo/CL_2000074	splenocyte	http://purl.obolibrary.org/obo/CL_0000738	leukocyte		
http://purl.obolibrary.org/obo/CL_0001200	lymphocyte of B lineage, CD19-positive	http://purl.obolibrary.org/obo/CL_0000945	lymphocyte of B lineage		
http://purl.obolibrary.org/obo/CL_2000064	ovarian surface epithelial cell	http://purl.obolibrary.org/obo/CL_0002078	meso-epithelial cell		
http://purl.obolibrary.org/obo/DOID_10575	calcium metabolism disease	http://purl.obolibrary.org/obo/DOID_0050032	mineral metabolism disease		
http://purl.obolibrary.org/obo/DOID_2351	iron metabolism disease	http://purl.obolibrary.org/obo/DOID_0050032	mineral metabolism disease		
http://purl.obolibrary.org/obo/DOID_2485	phosphorus metabolism disease	http://purl.obolibrary.org/obo/DOID_0050032	mineral metabolism disease		
http://purl.obolibrary.org/obo/DOID_445	Bartter disease	http://purl.obolibrary.org/obo/DOID_447	renal tubular transport disease		
http://purl.obolibrary.org/obo/DOID_1355	paranasal sinus lymphoma	http://purl.obolibrary.org/obo/DOID_0060058	lymphoma		
http://purl.obolibrary.org/obo/DOID_1357	maxillary sinus cancer	http://purl.obolibrary.org/obo/DOID_0050619	paranasal sinus cancer		
http://purl.obolibrary.org/obo/DOID_1360	frontal sinus cancer	http://purl.obolibrary.org/obo/DOID_0050619	paranasal sinus cancer		
http://purl.obolibrary.org/obo/DOID_1363	ethmoid sinus cancer	http://purl.obolibrary.org/obo/DOID_0050619	paranasal sinus cancer		
http://purl.obolibrary.org/obo/DOID_14546	sphenoidal sinus cancer	http://purl.obolibrary.org/obo/DOID_0050619	paranasal sinus cancer		
http://purl.obolibrary.org/obo/DOID_1350	paranasal sinus benign neoplasm	http://purl.obolibrary.org/obo/DOID_1352	paranasal sinus disease		
http://purl.obolibrary.org/obo/DOID_2598	laryngeal benign neoplasm	http://purl.obolibrary.org/obo/DOID_786	laryngeal disease		
http://purl.obolibrary.org/obo/DOID_3906	bronchial benign neoplasm	http://purl.obolibrary.org/obo/DOID_1176	bronchial disease		
http://purl.obolibrary.org/obo/DOID_13110	bladder squamous papilloma	http://purl.obolibrary.org/obo/DOID_0050623	bladder benign neoplasm		
http://purl.obolibrary.org/obo/DOID_14777	benign familial neonatal epilepsy	http://purl.obolibrary.org/obo/DOID_0050702	neonatal period electroclinical syndrome		
http://purl.obolibrary.org/obo/DOID_11312	Mobitz type II atrioventricular block	http://purl.obolibrary.org/obo/DOID_0050822	second-degree atrioventricular block		
http://purl.obolibrary.org/obo/DOID_13884	sick sinus syndrome	http://purl.obolibrary.org/obo/DOID_0050824	sinoatrial node disease		
http://purl.obolibrary.org/obo/DOID_11299	vertebral artery occlusion	http://purl.obolibrary.org/obo/DOID_5976	occlusion precerebral artery		
http://purl.obolibrary.org/obo/DOID_13095	vertebral artery insufficiency	http://purl.obolibrary.org/obo/DOID_225	syndrome		
http://purl.obolibrary.org/obo/DOID_13446	basilar artery occlusion	http://purl.obolibrary.org/obo/DOID_5976	occlusion precerebral artery		
http://purl.obolibrary.org/obo/DOID_14006	splenic artery aneurysm	http://purl.obolibrary.org/obo/DOID_0050828	artery disease		
http://purl.obolibrary.org/obo/DOID_2388	renal artery disease	http://purl.obolibrary.org/obo/DOID_0050828	artery disease		
http://purl.obolibrary.org/obo/DOID_3407	carotid artery disease	http://purl.obolibrary.org/obo/DOID_6713	cerebrovascular disease		
http://purl.obolibrary.org/obo/DOID_3527	cerebral arterial disease	http://purl.obolibrary.org/obo/DOID_13089	intracranial arterial disease		
http://purl.obolibrary.org/obo/DOID_116	pericardium cancer	http://purl.obolibrary.org/obo/DOID_117	heart cancer		
http://purl.obolibrary.org/obo/DOID_1312	focal segmental glomerulosclerosis	http://purl.obolibrary.org/obo/DOID_0050851	glomerulosclerosis		
http://purl.obolibrary.org/obo/DOID_12705	Friedreich ataxia	http://purl.obolibrary.org/obo/DOID_0050950	autosomal recessive cerebellar ataxia		
http://purl.obolibrary.org/obo/DOID_10817	sexual sadism	http://purl.obolibrary.org/obo/DOID_0060043	sexual health disorder		
http://purl.obolibrary.org/obo/DOID_10849	sexual masochism	http://purl.obolibrary.org/obo/DOID_0060043	sexual health disorder		
http://purl.obolibrary.org/obo/DOID_10834	voyeurism	http://purl.obolibrary.org/obo/DOID_0060044	paraphilia disorder		
http://purl.obolibrary.org/obo/DOID_1235	fetishism	http://purl.obolibrary.org/obo/DOID_0060044	paraphilia disorder		
http://purl.obolibrary.org/obo/DOID_13351	pedophilia	http://purl.obolibrary.org/obo/DOID_0060044	paraphilia disorder		
http://purl.obolibrary.org/obo/DOID_10540	gastric lymphoma	http://purl.obolibrary.org/obo/DOID_10534	stomach cancer		
http://purl.obolibrary.org/obo/DOID_10813	nasal cavity lymphoma	http://purl.obolibrary.org/obo/DOID_10811	nasal cavity cancer		
http://purl.obolibrary.org/obo/DOID_1106	esophagus lymphoma	http://purl.obolibrary.org/obo/DOID_5041	esophageal cancer		
http://purl.obolibrary.org/obo/DOID_11241	appendix lymphoma	http://purl.obolibrary.org/obo/DOID_11239	appendix cancer		
http://purl.obolibrary.org/obo/DOID_11821	bladder lymphoma	http://purl.obolibrary.org/obo/DOID_11054	urinary bladder cancer		
http://purl.obolibrary.org/obo/DOID_12001	tracheal lymphoma	http://purl.obolibrary.org/obo/DOID_11920	tracheal cancer		
http://purl.obolibrary.org/obo/DOID_12253	testicular lymphoma	http://purl.obolibrary.org/obo/DOID_2998	testicular cancer		
http://purl.obolibrary.org/obo/DOID_12339	retroperitoneal lymphoma	http://purl.obolibrary.org/obo/DOID_5875	retroperitoneal cancer		
http://purl.obolibrary.org/obo/DOID_13996	small intestine lymphoma	http://purl.obolibrary.org/obo/DOID_10154	small intestine cancer		
http://purl.obolibrary.org/obo/DOID_14139	anus lymphoma	http://purl.obolibrary.org/obo/DOID_14110	anus cancer		
http://purl.obolibrary.org/obo/DOID_14489	ureteral lymphoma	http://purl.obolibrary.org/obo/DOID_11819	ureter cancer		
http://purl.obolibrary.org/obo/DOID_1522	cecum lymphoma	http://purl.obolibrary.org/obo/DOID_1521	cecum cancer		
http://purl.obolibrary.org/obo/DOID_1523	colon lymphoma	http://purl.obolibrary.org/obo/DOID_219	colon cancer		
http://purl.obolibrary.org/obo/DOID_11624	penile benign neoplasm	http://purl.obolibrary.org/obo/DOID_1529	penile disease		
http://purl.obolibrary.org/obo/DOID_916	liver benign neoplasm	http://purl.obolibrary.org/obo/DOID_409	liver disease		
http://purl.obolibrary.org/obo/DOID_501	central nervous system hemangioma	http://purl.obolibrary.org/obo/DOID_255	hemangioma		
http://purl.obolibrary.org/obo/DOID_60006	benign vascular tumor	http://purl.obolibrary.org/obo/DOID_0060091	cardiovascular organ benign neoplasm		
http://purl.obolibrary.org/obo/DOID_166	melanotic neuroectodermal tumor	http://purl.obolibrary.org/obo/DOID_0060094	bone benign neoplasm		
http://purl.obolibrary.org/obo/DOID_3165	skin benign neoplasm	http://purl.obolibrary.org/obo/DOID_37	skin disease		
http://purl.obolibrary.org/obo/DOID_4386	myofibroma	http://purl.obolibrary.org/obo/DOID_0060123	connective tissue benign neoplasm		
http://purl.obolibrary.org/obo/DOID_11151	cholecystolithiasis	http://purl.obolibrary.org/obo/DOID_0060262	gallbladder disease		
http://purl.obolibrary.org/obo/DOID_11665	Patau syndrome	http://purl.obolibrary.org/obo/DOID_0080014	chromosomal disease		
http://purl.obolibrary.org/obo/DOID_10488	imperforate anus	http://purl.obolibrary.org/obo/DOID_3128	anus disease		
http://purl.obolibrary.org/obo/DOID_11044	gastroschisis	http://purl.obolibrary.org/obo/DOID_0080015	physical disorder		
http://purl.obolibrary.org/obo/DOID_11367	congenital aphakia	http://purl.obolibrary.org/obo/DOID_110	lens disease		
http://purl.obolibrary.org/obo/DOID_14177	congenital hypogammaglobulinemia	http://purl.obolibrary.org/obo/DOID_2115	B cell deficiency		
http://purl.obolibrary.org/obo/DOID_2490	congenital nervous system abnormality	http://purl.obolibrary.org/obo/DOID_863	nervous system disease		
http://purl.obolibrary.org/obo/DOID_589	congenital hemolytic anemia	http://purl.obolibrary.org/obo/DOID_583	hemolytic anemia		
http://purl.obolibrary.org/obo/DOID_1260	parametritis	http://purl.obolibrary.org/obo/DOID_1003	pelvic inflammatory disease		
http://purl.obolibrary.org/obo/DOID_11177	total internal ophthalmoplegia	http://purl.obolibrary.org/obo/DOID_238	pupil disease		
http://purl.obolibrary.org/obo/DOID_11637	accommodative spasm	http://purl.obolibrary.org/obo/DOID_10034	eye accommodation disease		
http://purl.obolibrary.org/obo/DOID_11638	presbyopia	http://purl.obolibrary.org/obo/DOID_10034	eye accommodation disease		
http://purl.obolibrary.org/obo/DOID_12304	conjunctival pigmentation	http://purl.obolibrary.org/obo/DOID_10123	pigmentation disease		
http://purl.obolibrary.org/obo/DOID_12305	Bloch-Sulzberger syndrome	http://purl.obolibrary.org/obo/DOID_10123	pigmentation disease		
http://purl.obolibrary.org/obo/DOID_12311	stromal corneal pigmentation	http://purl.obolibrary.org/obo/DOID_10123	pigmentation disease		
http://purl.obolibrary.org/obo/DOID_11028	pseudopterygium	http://purl.obolibrary.org/obo/DOID_10124	corneal disease		
http://purl.obolibrary.org/obo/DOID_11030	corneal edema	http://purl.obolibrary.org/obo/DOID_10124	corneal disease		
http://purl.obolibrary.org/obo/DOID_11547	corneal deposit	http://purl.obolibrary.org/obo/DOID_10124	corneal disease		
http://purl.obolibrary.org/obo/DOID_11552	Bowman's membrane folds or rupture	http://purl.obolibrary.org/obo/DOID_10124	corneal disease		
http://purl.obolibrary.org/obo/DOID_1237	corneal degeneration	http://purl.obolibrary.org/obo/DOID_9799	eye degenerative disease		
http://purl.obolibrary.org/obo/DOID_12753	corneal staphyloma	http://purl.obolibrary.org/obo/DOID_10124	corneal disease		
http://purl.obolibrary.org/obo/DOID_13447	corneal argyrosis	http://purl.obolibrary.org/obo/DOID_10124	corneal disease		
http://purl.obolibrary.org/obo/DOID_1436	corneal ectasia	http://purl.obolibrary.org/obo/DOID_10124	corneal disease		
http://purl.obolibrary.org/obo/DOID_2566	corneal dystrophy	http://purl.obolibrary.org/obo/DOID_10124	corneal disease		
http://purl.obolibrary.org/obo/DOID_11120	psychologic dyspareunia	http://purl.obolibrary.org/obo/DOID_10132	psychosexual disorder		
http://purl.obolibrary.org/obo/DOID_13709	premature ejaculation	http://purl.obolibrary.org/obo/DOID_10132	psychosexual disorder		
http://purl.obolibrary.org/obo/DOID_13868	hypoactive sexual desire disorder	http://purl.obolibrary.org/obo/DOID_10132	psychosexual disorder		
http://purl.obolibrary.org/obo/DOID_11029	pinguecula	http://purl.obolibrary.org/obo/DOID_10139	conjunctival degeneration		
http://purl.obolibrary.org/obo/DOID_12895	keratoconjunctivitis sicca	http://purl.obolibrary.org/obo/DOID_10140	dry eye syndrome		
http://purl.obolibrary.org/obo/DOID_13499	jejunal cancer	http://purl.obolibrary.org/obo/DOID_10154	small intestine cancer		
http://purl.obolibrary.org/obo/DOID_14202	adult dermatomyositis	http://purl.obolibrary.org/obo/DOID_10223	dermatomyositis		
http://purl.obolibrary.org/obo/DOID_14203	childhood type dermatomyositis	http://purl.obolibrary.org/obo/DOID_10223	dermatomyositis		
http://purl.obolibrary.org/obo/DOID_13209	right bundle branch block	http://purl.obolibrary.org/obo/DOID_10273	heart conduction disease		
http://purl.obolibrary.org/obo/DOID_14451	hyperkalemic periodic paralysis	http://purl.obolibrary.org/obo/DOID_1029	familial periodic paralysis		
http://purl.obolibrary.org/obo/DOID_14452	hypokalemic periodic paralysis	http://purl.obolibrary.org/obo/DOID_1029	familial periodic paralysis		
http://purl.obolibrary.org/obo/DOID_13921	bacterial esophagitis	http://purl.obolibrary.org/obo/DOID_11963	esophagitis		
http://purl.obolibrary.org/obo/DOID_1703	Richter's syndrome	http://purl.obolibrary.org/obo/DOID_1040	chronic lymphocytic leukemia		
http://purl.obolibrary.org/obo/DOID_10480	diaphragmatic eventration	http://purl.obolibrary.org/obo/DOID_10481	diaphragm disease		
http://purl.obolibrary.org/obo/DOID_10536	malignant gastric granular cell tumor	http://purl.obolibrary.org/obo/DOID_10534	stomach cancer		
http://purl.obolibrary.org/obo/DOID_10544	pylorus cancer	http://purl.obolibrary.org/obo/DOID_10534	stomach cancer		
http://purl.obolibrary.org/obo/DOID_10547	pyloric antrum cancer	http://purl.obolibrary.org/obo/DOID_10544	pylorus cancer		
http://purl.obolibrary.org/obo/DOID_12678	hypercalcemia	http://purl.obolibrary.org/obo/DOID_10575	calcium metabolism disease		
http://purl.obolibrary.org/obo/DOID_12972	intrapelvic lymph node leukemic reticuloendotheliosis	http://purl.obolibrary.org/obo/DOID_10619	lymph node cancer		
http://purl.obolibrary.org/obo/DOID_1066	residual stage of open angle glaucoma	http://purl.obolibrary.org/obo/DOID_1067	open-angle glaucoma		
http://purl.obolibrary.org/obo/DOID_13520	neonatal infective mastitis	http://purl.obolibrary.org/obo/DOID_10690	mastitis		
http://purl.obolibrary.org/obo/DOID_11520	benign hypertensive renal disease	http://purl.obolibrary.org/obo/DOID_1073	renal hypertension		
http://purl.obolibrary.org/obo/DOID_11664	nephrosclerosis	http://purl.obolibrary.org/obo/DOID_1073	renal hypertension		
http://purl.obolibrary.org/obo/DOID_13730	malignant renovascular hypertension	http://purl.obolibrary.org/obo/DOID_13731	malignant secondary hypertension		
http://purl.obolibrary.org/obo/DOID_1591	renovascular hypertension	http://purl.obolibrary.org/obo/DOID_1073	renal hypertension		
http://purl.obolibrary.org/obo/DOID_3021	acute kidney failure	http://purl.obolibrary.org/obo/DOID_1074	kidney failure		
http://purl.obolibrary.org/obo/DOID_11401	xanthogranulomatous pyelonephritis	http://purl.obolibrary.org/obo/DOID_1076	chronic pyelonephritis		
http://purl.obolibrary.org/obo/DOID_11130	secondary hypertension	http://purl.obolibrary.org/obo/DOID_10763	hypertension		
http://purl.obolibrary.org/obo/DOID_10812	nasal cavity olfactory neuroblastoma	http://purl.obolibrary.org/obo/DOID_369	olfactory neuroblastoma		
http://purl.obolibrary.org/obo/DOID_10823	malignant essential hypertension	http://purl.obolibrary.org/obo/DOID_10825	essential hypertension		
http://purl.obolibrary.org/obo/DOID_10913	benign essential hypertension	http://purl.obolibrary.org/obo/DOID_10825	essential hypertension		
http://purl.obolibrary.org/obo/DOID_12897	submandibular gland disease	http://purl.obolibrary.org/obo/DOID_10854	salivary gland disease		
http://purl.obolibrary.org/obo/DOID_12899	benign lymphoepithelial lesion of salivary gland	http://purl.obolibrary.org/obo/DOID_10854	salivary gland disease		
http://purl.obolibrary.org/obo/DOID_12901	necrotizing sialometaplasia	http://purl.obolibrary.org/obo/DOID_10854	salivary gland disease		
http://purl.obolibrary.org/obo/DOID_12904	mucocele of salivary gland	http://purl.obolibrary.org/obo/DOID_10854	salivary gland disease		
http://purl.obolibrary.org/obo/DOID_12905	sialolithiasis	http://purl.obolibrary.org/obo/DOID_10854	salivary gland disease		
http://purl.obolibrary.org/obo/DOID_10864	partial third-nerve palsy	http://purl.obolibrary.org/obo/DOID_10863	paralytic squint		
http://purl.obolibrary.org/obo/DOID_10866	total third-nerve palsy	http://purl.obolibrary.org/obo/DOID_10863	paralytic squint		
http://purl.obolibrary.org/obo/DOID_10869	fourth cranial nerve palsy	http://purl.obolibrary.org/obo/DOID_10863	paralytic squint		
http://purl.obolibrary.org/obo/DOID_214	teeth hard tissue disease	http://purl.obolibrary.org/obo/DOID_1091	tooth disease		
http://purl.obolibrary.org/obo/DOID_11514	fissured tongue	http://purl.obolibrary.org/obo/DOID_10944	tongue disease		
http://purl.obolibrary.org/obo/DOID_13333	hypertrophy of tongue papillae	http://purl.obolibrary.org/obo/DOID_10944	tongue disease		
http://purl.obolibrary.org/obo/DOID_13500	hairy tongue	http://purl.obolibrary.org/obo/DOID_10944	tongue disease		
http://purl.obolibrary.org/obo/DOID_1456	glossitis	http://purl.obolibrary.org/obo/DOID_10944	tongue disease		
http://purl.obolibrary.org/obo/DOID_8649	tongue cancer	http://purl.obolibrary.org/obo/DOID_8618	oral cavity cancer		
http://purl.obolibrary.org/obo/DOID_1063	interstitial nephritis	http://purl.obolibrary.org/obo/DOID_10952	nephritis		
http://purl.obolibrary.org/obo/DOID_10963	cholesteatoma of attic	http://purl.obolibrary.org/obo/DOID_10964	cholesteatoma of middle ear		
http://purl.obolibrary.org/obo/DOID_10971	acute salpingo-oophoritis	http://purl.obolibrary.org/obo/DOID_10972	salpingo-oophoritis		
http://purl.obolibrary.org/obo/DOID_12265	chronic salpingo-oophoritis	http://purl.obolibrary.org/obo/DOID_10972	salpingo-oophoritis		
http://purl.obolibrary.org/obo/DOID_13942	acute gonococcal salpingitis	http://purl.obolibrary.org/obo/DOID_10973	acute salpingitis		
http://purl.obolibrary.org/obo/DOID_10972	salpingo-oophoritis	http://purl.obolibrary.org/obo/DOID_10974	oophoritis		
http://purl.obolibrary.org/obo/DOID_11364	lens subluxation	http://purl.obolibrary.org/obo/DOID_110	lens disease		
http://purl.obolibrary.org/obo/DOID_11031	bullous keratopathy	http://purl.obolibrary.org/obo/DOID_11030	corneal edema		
http://purl.obolibrary.org/obo/DOID_11032	secondary corneal edema	http://purl.obolibrary.org/obo/DOID_11030	corneal edema		
http://purl.obolibrary.org/obo/DOID_11033	idiopathic corneal edema	http://purl.obolibrary.org/obo/DOID_11030	corneal edema		
http://purl.obolibrary.org/obo/DOID_11034	contact lens corneal edema	http://purl.obolibrary.org/obo/DOID_11030	corneal edema		
http://purl.obolibrary.org/obo/DOID_11593	bladder lateral wall cancer	http://purl.obolibrary.org/obo/DOID_11054	urinary bladder cancer		
http://purl.obolibrary.org/obo/DOID_11809	bladder neck cancer	http://purl.obolibrary.org/obo/DOID_11054	urinary bladder cancer		
http://purl.obolibrary.org/obo/DOID_11811	urinary bladder posterior wall cancer	http://purl.obolibrary.org/obo/DOID_11054	urinary bladder cancer		
http://purl.obolibrary.org/obo/DOID_11813	bladder trigone cancer	http://purl.obolibrary.org/obo/DOID_11054	urinary bladder cancer		
http://purl.obolibrary.org/obo/DOID_11814	urinary bladder anterior wall cancer	http://purl.obolibrary.org/obo/DOID_11054	urinary bladder cancer		
http://purl.obolibrary.org/obo/DOID_11817	urachus cancer	http://purl.obolibrary.org/obo/DOID_11054	urinary bladder cancer		
http://purl.obolibrary.org/obo/DOID_11820	bladder dome cancer	http://purl.obolibrary.org/obo/DOID_11054	urinary bladder cancer		
http://purl.obolibrary.org/obo/DOID_1677	low implantation of placenta	http://purl.obolibrary.org/obo/DOID_11060	placenta praevia		
http://purl.obolibrary.org/obo/DOID_11282	solar retinopathy	http://purl.obolibrary.org/obo/DOID_11086	chorioretinal scar		
http://purl.obolibrary.org/obo/DOID_11283	peripheral scars of retina	http://purl.obolibrary.org/obo/DOID_11086	chorioretinal scar		
http://purl.obolibrary.org/obo/DOID_1073	renal hypertension	http://purl.obolibrary.org/obo/DOID_557	kidney disease		
http://purl.obolibrary.org/obo/DOID_13143	benign secondary hypertension	http://purl.obolibrary.org/obo/DOID_11130	secondary hypertension		
http://purl.obolibrary.org/obo/DOID_13731	malignant secondary hypertension	http://purl.obolibrary.org/obo/DOID_11130	secondary hypertension		
http://purl.obolibrary.org/obo/DOID_11133	prostatic cyst	http://purl.obolibrary.org/obo/DOID_11132	prostatic hypertrophy		
http://purl.obolibrary.org/obo/DOID_13206	nodular prostate	http://purl.obolibrary.org/obo/DOID_11132	prostatic hypertrophy		
http://purl.obolibrary.org/obo/DOID_14152	spinal cord sarcoma	http://purl.obolibrary.org/obo/DOID_5612	spinal cancer		
http://purl.obolibrary.org/obo/DOID_11203	Angelucci's syndrome	http://purl.obolibrary.org/obo/DOID_11204	allergic conjunctivitis		
http://purl.obolibrary.org/obo/DOID_12537	hypermobility of coccyx	http://purl.obolibrary.org/obo/DOID_1123	spondyloarthropathy		
http://purl.obolibrary.org/obo/DOID_6590	spondylitis	http://purl.obolibrary.org/obo/DOID_1123	spondyloarthropathy		
http://purl.obolibrary.org/obo/DOID_11246	DIC in newborn	http://purl.obolibrary.org/obo/DOID_11247	disseminated intravascular coagulation		
http://purl.obolibrary.org/obo/DOID_1129	pituitary apoplexy	http://purl.obolibrary.org/obo/DOID_1130	pituitary infarct		
http://purl.obolibrary.org/obo/DOID_13402	skin sarcoidosis	http://purl.obolibrary.org/obo/DOID_37	skin disease		
http://purl.obolibrary.org/obo/DOID_13407	hypercalcemic sarcoidosis	http://purl.obolibrary.org/obo/DOID_11335	sarcoidosis		
http://purl.obolibrary.org/obo/DOID_11595	scleral staphyloma	http://purl.obolibrary.org/obo/DOID_11343	scleral disease		
http://purl.obolibrary.org/obo/DOID_13452	scleritis	http://purl.obolibrary.org/obo/DOID_11343	scleral disease		
http://purl.obolibrary.org/obo/DOID_11354	stone in bladder diverticulum	http://purl.obolibrary.org/obo/DOID_11353	bladder diverticulum		
http://purl.obolibrary.org/obo/DOID_12087	deep corneal vascularisation	http://purl.obolibrary.org/obo/DOID_11382	corneal neovascularization		
http://purl.obolibrary.org/obo/DOID_1138	spinal meningioma	http://purl.obolibrary.org/obo/DOID_3565	meningioma		
http://purl.obolibrary.org/obo/DOID_1076	chronic pyelonephritis	http://purl.obolibrary.org/obo/DOID_11400	pyelonephritis		
http://purl.obolibrary.org/obo/DOID_1142	alternating exotropia	http://purl.obolibrary.org/obo/DOID_1143	exotropia		
http://purl.obolibrary.org/obo/DOID_11853	monocular exotropia	http://purl.obolibrary.org/obo/DOID_1143	exotropia		
http://purl.obolibrary.org/obo/DOID_11488	idiopathic peripheral autonomic neuropathy	http://purl.obolibrary.org/obo/DOID_11465	autonomic nervous system disease		
http://purl.obolibrary.org/obo/DOID_11504	autonomic neuropathy	http://purl.obolibrary.org/obo/DOID_11465	autonomic nervous system disease		
http://purl.obolibrary.org/obo/DOID_3223	complex regional pain syndrome	http://purl.obolibrary.org/obo/DOID_11465	autonomic nervous system disease		
http://purl.obolibrary.org/obo/DOID_11503	diabetic autonomic neuropathy	http://purl.obolibrary.org/obo/DOID_11504	autonomic neuropathy		
http://purl.obolibrary.org/obo/DOID_12307	anterior corneal pigmentation	http://purl.obolibrary.org/obo/DOID_11547	corneal deposit		
http://purl.obolibrary.org/obo/DOID_13448	posterior corneal pigmentation	http://purl.obolibrary.org/obo/DOID_11547	corneal deposit		
http://purl.obolibrary.org/obo/DOID_11914	gastroparesis	http://purl.obolibrary.org/obo/DOID_1159	functional gastric disease		
http://purl.obolibrary.org/obo/DOID_8439	postgastrectomy syndrome	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		
http://purl.obolibrary.org/obo/DOID_11594	ring staphyloma	http://purl.obolibrary.org/obo/DOID_11595	scleral staphyloma		
http://purl.obolibrary.org/obo/DOID_13787	localized anterior staphyloma	http://purl.obolibrary.org/obo/DOID_11595	scleral staphyloma		
http://purl.obolibrary.org/obo/DOID_13788	equatorial staphyloma	http://purl.obolibrary.org/obo/DOID_11595	scleral staphyloma		
http://purl.obolibrary.org/obo/DOID_13789	staphyloma posticum	http://purl.obolibrary.org/obo/DOID_11595	scleral staphyloma		
http://purl.obolibrary.org/obo/DOID_12246	histoplasmosis meningitis	http://purl.obolibrary.org/obo/DOID_11608	fungal meningitis		
http://purl.obolibrary.org/obo/DOID_11839	glans penis cancer	http://purl.obolibrary.org/obo/DOID_11615	penile cancer		
http://purl.obolibrary.org/obo/DOID_11988	conjunctival concretion	http://purl.obolibrary.org/obo/DOID_11653	conjunctival deposit		
http://purl.obolibrary.org/obo/DOID_1171	hyperlipoproteinemia type V	http://purl.obolibrary.org/obo/DOID_1168	familial hyperlipidemia		
http://purl.obolibrary.org/obo/DOID_1172	hyperlipoproteinemia type IV	http://purl.obolibrary.org/obo/DOID_1168	familial hyperlipidemia		
http://purl.obolibrary.org/obo/DOID_13809	familial combined hyperlipidemia	http://purl.obolibrary.org/obo/DOID_1168	familial hyperlipidemia		
http://purl.obolibrary.org/obo/DOID_14535	malignant cardiac germ cell tumor	http://purl.obolibrary.org/obo/DOID_117	heart cancer		
http://purl.obolibrary.org/obo/DOID_11781	regular astigmatism	http://purl.obolibrary.org/obo/DOID_11782	astigmatism		
http://purl.obolibrary.org/obo/DOID_13919	irregular astigmatism	http://purl.obolibrary.org/obo/DOID_11782	astigmatism		
http://purl.obolibrary.org/obo/DOID_11829	degenerative myopia	http://purl.obolibrary.org/obo/DOID_11830	myopia		
http://purl.obolibrary.org/obo/DOID_10966	lipoid nephrosis	http://purl.obolibrary.org/obo/DOID_1184	nephrotic syndrome		
http://purl.obolibrary.org/obo/DOID_12526	tarsal tunnel syndrome	http://purl.obolibrary.org/obo/DOID_1187	tibial neuropathy		
http://purl.obolibrary.org/obo/DOID_1187	tibial neuropathy	http://purl.obolibrary.org/obo/DOID_1188	mononeuropathy		
http://purl.obolibrary.org/obo/DOID_12171	radial neuropathy	http://purl.obolibrary.org/obo/DOID_1188	mononeuropathy		
http://purl.obolibrary.org/obo/DOID_11888	schwannoma of ureter	http://purl.obolibrary.org/obo/DOID_956	peripheral nerve schwannoma		
http://purl.obolibrary.org/obo/DOID_13147	fungal esophagitis	http://purl.obolibrary.org/obo/DOID_1564	fungal infectious disease		
http://purl.obolibrary.org/obo/DOID_13976	peptic esophagitis	http://purl.obolibrary.org/obo/DOID_11963	esophagitis		
http://purl.obolibrary.org/obo/DOID_1742	drug psychosis	http://purl.obolibrary.org/obo/DOID_1203	drug-induced mental disorder		
http://purl.obolibrary.org/obo/DOID_12574	posterior uveitis	http://purl.obolibrary.org/obo/DOID_12030	panuveitis		
http://purl.obolibrary.org/obo/DOID_1407	anterior uveitis	http://purl.obolibrary.org/obo/DOID_12030	panuveitis		
http://purl.obolibrary.org/obo/DOID_13329	toxic optic neuropathy	http://purl.obolibrary.org/obo/DOID_1210	optic neuritis		
http://purl.obolibrary.org/obo/DOID_14155	acute retrobulbar neuritis	http://purl.obolibrary.org/obo/DOID_1210	optic neuritis		
http://purl.obolibrary.org/obo/DOID_12162	pseudoretinitis pigmentosa	http://purl.obolibrary.org/obo/DOID_12161	peripheral retinal degeneration		
http://purl.obolibrary.org/obo/DOID_12163	senile reticular retinal degeneration	http://purl.obolibrary.org/obo/DOID_12161	peripheral retinal degeneration		
http://purl.obolibrary.org/obo/DOID_12164	Blessig's cysts	http://purl.obolibrary.org/obo/DOID_12161	peripheral retinal degeneration		
http://purl.obolibrary.org/obo/DOID_12165	retinal lattice degeneration	http://purl.obolibrary.org/obo/DOID_12161	peripheral retinal degeneration		
http://purl.obolibrary.org/obo/DOID_12166	cobblestone retinal degeneration	http://purl.obolibrary.org/obo/DOID_12161	peripheral retinal degeneration		
http://purl.obolibrary.org/obo/DOID_12167	secondary vitreoretinal degeneration	http://purl.obolibrary.org/obo/DOID_12161	peripheral retinal degeneration		
http://purl.obolibrary.org/obo/DOID_12170	radial nerve lesion	http://purl.obolibrary.org/obo/DOID_12171	radial neuropathy		
http://purl.obolibrary.org/obo/DOID_12175	dyshormonogenic goiter	http://purl.obolibrary.org/obo/DOID_12176	goiter		
http://purl.obolibrary.org/obo/DOID_13195	nontoxic goiter	http://purl.obolibrary.org/obo/DOID_12176	goiter		
http://purl.obolibrary.org/obo/DOID_13196	lingual goiter	http://purl.obolibrary.org/obo/DOID_12176	goiter		
http://purl.obolibrary.org/obo/DOID_13197	nodular goiter	http://purl.obolibrary.org/obo/DOID_12176	goiter		
http://purl.obolibrary.org/obo/DOID_13200	substernal goiter	http://purl.obolibrary.org/obo/DOID_12176	goiter		
http://purl.obolibrary.org/obo/DOID_12191	splenic flexure cancer	http://purl.obolibrary.org/obo/DOID_12190	descending colon cancer		
http://purl.obolibrary.org/obo/DOID_11245	transient neonatal neutropenia	http://purl.obolibrary.org/obo/DOID_1227	neutropenia		
http://purl.obolibrary.org/obo/DOID_12325	kyphoscoliotic heart disease	http://purl.obolibrary.org/obo/DOID_12326	chronic pulmonary heart disease		
http://purl.obolibrary.org/obo/DOID_14096	infertility due to extratesticular cause	http://purl.obolibrary.org/obo/DOID_12336	male infertility		
http://purl.obolibrary.org/obo/DOID_1233	transvestism	http://purl.obolibrary.org/obo/DOID_1235	fetishism		
http://purl.obolibrary.org/obo/DOID_12362	thyrotoxic exophthalmos	http://purl.obolibrary.org/obo/DOID_12359	endocrine exophthalmos		
http://purl.obolibrary.org/obo/DOID_11164	band keratopathy	http://purl.obolibrary.org/obo/DOID_1237	corneal degeneration		
http://purl.obolibrary.org/obo/DOID_11267	keratomalacia	http://purl.obolibrary.org/obo/DOID_1237	corneal degeneration		
http://purl.obolibrary.org/obo/DOID_11342	arcus senilis	http://purl.obolibrary.org/obo/DOID_1237	corneal degeneration		
http://purl.obolibrary.org/obo/DOID_11541	recurrent corneal erosion	http://purl.obolibrary.org/obo/DOID_1237	corneal degeneration		
http://purl.obolibrary.org/obo/DOID_11793	phthisical cornea	http://purl.obolibrary.org/obo/DOID_1237	corneal degeneration		
http://purl.obolibrary.org/obo/DOID_14507	peripheral degeneration of cornea	http://purl.obolibrary.org/obo/DOID_1237	corneal degeneration		
http://purl.obolibrary.org/obo/DOID_12395	spastic entropion	http://purl.obolibrary.org/obo/DOID_12397	entropion		
http://purl.obolibrary.org/obo/DOID_12836	senile entropion	http://purl.obolibrary.org/obo/DOID_12397	entropion		
http://purl.obolibrary.org/obo/DOID_13112	mechanical entropion	http://purl.obolibrary.org/obo/DOID_12397	entropion		
http://purl.obolibrary.org/obo/DOID_13113	cicatricial entropion	http://purl.obolibrary.org/obo/DOID_12397	entropion		
http://purl.obolibrary.org/obo/DOID_1241	luxation of globe	http://purl.obolibrary.org/obo/DOID_1242	globe disease		
http://purl.obolibrary.org/obo/DOID_14070	vestibular nystagmus	http://purl.obolibrary.org/obo/DOID_1242	globe disease		
http://purl.obolibrary.org/obo/DOID_14199	posterior dislocation of lens	http://purl.obolibrary.org/obo/DOID_1242	globe disease		
http://purl.obolibrary.org/obo/DOID_12465	secondary hyperparathyroidism of renal origin	http://purl.obolibrary.org/obo/DOID_557	kidney disease		
http://purl.obolibrary.org/obo/DOID_2213	hemorrhagic disease	http://purl.obolibrary.org/obo/DOID_1247	blood coagulation disease		
http://purl.obolibrary.org/obo/DOID_11446	sciatic neuropathy	http://purl.obolibrary.org/obo/DOID_12528	lesion of sciatic nerve		
http://purl.obolibrary.org/obo/DOID_12934	Kearns-Sayre syndrome	http://purl.obolibrary.org/obo/DOID_12558	chronic progressive external ophthalmoplegia		
http://purl.obolibrary.org/obo/DOID_1829	urethral stricture	http://purl.obolibrary.org/obo/DOID_12577	urethral obstruction		
http://purl.obolibrary.org/obo/DOID_14099	acquired gastric outlet stenosis	http://purl.obolibrary.org/obo/DOID_12639	pyloric stenosis		
http://purl.obolibrary.org/obo/DOID_12641	displacement of cardia through esophageal hiatus	http://purl.obolibrary.org/obo/DOID_12642	hiatus hernia		
http://purl.obolibrary.org/obo/DOID_12668	abnormal retinal correspondence	http://purl.obolibrary.org/obo/DOID_12667	binocular vision disease		
http://purl.obolibrary.org/obo/DOID_1278	tolosa-hunt syndrome	http://purl.obolibrary.org/obo/DOID_1279	ocular motility disease		
http://purl.obolibrary.org/obo/DOID_539	ophthalmoplegia	http://purl.obolibrary.org/obo/DOID_1279	ocular motility disease		
http://purl.obolibrary.org/obo/DOID_9650	pathologic nystagmus	http://purl.obolibrary.org/obo/DOID_1279	ocular motility disease		
http://purl.obolibrary.org/obo/DOID_13662	ulcer of anus and rectum	http://purl.obolibrary.org/obo/DOID_1285	rectal disease		
http://purl.obolibrary.org/obo/DOID_14483	chorea gravidarum	http://purl.obolibrary.org/obo/DOID_12859	choreatic disease		
http://purl.obolibrary.org/obo/DOID_12707	myoclonic cerebellar dyssynergia	http://purl.obolibrary.org/obo/DOID_1289	neurodegenerative disease		
http://purl.obolibrary.org/obo/DOID_13548	secondary Parkinson disease	http://purl.obolibrary.org/obo/DOID_1289	neurodegenerative disease		
http://purl.obolibrary.org/obo/DOID_12958	paralytic lagophthalmos	http://purl.obolibrary.org/obo/DOID_12959	lagophthalmos		
http://purl.obolibrary.org/obo/DOID_13037	mechanical lagophthalmos	http://purl.obolibrary.org/obo/DOID_12959	lagophthalmos		
http://purl.obolibrary.org/obo/DOID_13038	cicatricial lagophthalmos	http://purl.obolibrary.org/obo/DOID_12959	lagophthalmos		
http://purl.obolibrary.org/obo/DOID_1227	neutropenia	http://purl.obolibrary.org/obo/DOID_12987	agranulocytosis		
http://purl.obolibrary.org/obo/DOID_13139	crescentic glomerulonephritis	http://purl.obolibrary.org/obo/DOID_13138	acute proliferative glomerulonephritis		
http://purl.obolibrary.org/obo/DOID_12732	intermediate uveitis	http://purl.obolibrary.org/obo/DOID_13141	uveitis		
http://purl.obolibrary.org/obo/DOID_13239	internal pathological resorption	http://purl.obolibrary.org/obo/DOID_13240	tooth resorption		
http://purl.obolibrary.org/obo/DOID_14529	external pathological resorption	http://purl.obolibrary.org/obo/DOID_13240	tooth resorption		
http://purl.obolibrary.org/obo/DOID_14550	root resorption	http://purl.obolibrary.org/obo/DOID_13240	tooth resorption		
http://purl.obolibrary.org/obo/DOID_13271	cutaneous porphyria	http://purl.obolibrary.org/obo/DOID_37	skin disease		
http://purl.obolibrary.org/obo/DOID_13909	red-green color blindness	http://purl.obolibrary.org/obo/DOID_13399	color blindness		
http://purl.obolibrary.org/obo/DOID_13910	red color blindness	http://purl.obolibrary.org/obo/DOID_13399	color blindness		
http://purl.obolibrary.org/obo/DOID_13912	acquired color blindness	http://purl.obolibrary.org/obo/DOID_13399	color blindness		
http://purl.obolibrary.org/obo/DOID_12055	sarcoid meningitis	http://purl.obolibrary.org/obo/DOID_13403	neurosarcoidosis		
http://purl.obolibrary.org/obo/DOID_12550	hepatic coma	http://purl.obolibrary.org/obo/DOID_13413	hepatic encephalopathy		
http://purl.obolibrary.org/obo/DOID_13676	posterior scleritis	http://purl.obolibrary.org/obo/DOID_13452	scleritis		
http://purl.obolibrary.org/obo/DOID_13794	anterior scleritis	http://purl.obolibrary.org/obo/DOID_13452	scleritis		
http://purl.obolibrary.org/obo/DOID_1358	maxillary sinus benign neoplasm	http://purl.obolibrary.org/obo/DOID_1350	paranasal sinus benign neoplasm		
http://purl.obolibrary.org/obo/DOID_1361	frontal sinus benign neoplasm	http://purl.obolibrary.org/obo/DOID_1350	paranasal sinus benign neoplasm		
http://purl.obolibrary.org/obo/DOID_1364	ethmoidal sinus benign neoplasm	http://purl.obolibrary.org/obo/DOID_1350	paranasal sinus benign neoplasm		
http://purl.obolibrary.org/obo/DOID_12466	secondary hyperparathyroidism	http://purl.obolibrary.org/obo/DOID_13543	hyperparathyroidism		
http://purl.obolibrary.org/obo/DOID_13575	non-renal secondary hyperparathyroidism	http://purl.obolibrary.org/obo/DOID_13543	hyperparathyroidism		
http://purl.obolibrary.org/obo/DOID_14332	postencephalitic Parkinson disease	http://purl.obolibrary.org/obo/DOID_13548	secondary Parkinson disease		
http://purl.obolibrary.org/obo/DOID_13756	epiphora due to insufficient drainage	http://purl.obolibrary.org/obo/DOID_13757	excessive tearing		
http://purl.obolibrary.org/obo/DOID_14244	epiphora due to excess lacrimation	http://purl.obolibrary.org/obo/DOID_13757	excessive tearing		
http://purl.obolibrary.org/obo/DOID_2664	sweat gland benign neoplasm	http://purl.obolibrary.org/obo/DOID_3165	skin benign neoplasm		
http://purl.obolibrary.org/obo/DOID_1391	Norum disease	http://purl.obolibrary.org/obo/DOID_1387	hypolipoproteinemia		
http://purl.obolibrary.org/obo/DOID_10593	idiopathic progressive polyneuropathy	http://purl.obolibrary.org/obo/DOID_1389	polyneuropathy		
http://purl.obolibrary.org/obo/DOID_13649	polyneuropathy in collagen vascular disease	http://purl.obolibrary.org/obo/DOID_1389	polyneuropathy		
http://purl.obolibrary.org/obo/DOID_11975	coloboma of optic nerve	http://purl.obolibrary.org/obo/DOID_1393	visual pathway disease		
http://purl.obolibrary.org/obo/DOID_13295	crater-like holes of optic disc	http://purl.obolibrary.org/obo/DOID_1393	visual pathway disease		
http://purl.obolibrary.org/obo/DOID_1392	pseudopapilledema	http://purl.obolibrary.org/obo/DOID_1393	visual pathway disease		
http://purl.obolibrary.org/obo/DOID_5691	visual cortex disease	http://purl.obolibrary.org/obo/DOID_1393	visual pathway disease		
http://purl.obolibrary.org/obo/DOID_10499	orbital granuloma	http://purl.obolibrary.org/obo/DOID_1397	chronic orbital inflammation		
http://purl.obolibrary.org/obo/DOID_11134	prolapse of lacrimal gland	http://purl.obolibrary.org/obo/DOID_1400	lacrimal apparatus disease		
http://purl.obolibrary.org/obo/DOID_13651	eversion of lacrimal punctum	http://purl.obolibrary.org/obo/DOID_1400	lacrimal apparatus disease		
http://purl.obolibrary.org/obo/DOID_13653	stenosis of lacrimal punctum	http://purl.obolibrary.org/obo/DOID_1400	lacrimal apparatus disease		
http://purl.obolibrary.org/obo/DOID_13654	stenosis of lacrimal passage	http://purl.obolibrary.org/obo/DOID_1400	lacrimal apparatus disease		
http://purl.obolibrary.org/obo/DOID_13655	acquired tear duct stenosis	http://purl.obolibrary.org/obo/DOID_1400	lacrimal apparatus disease		
http://purl.obolibrary.org/obo/DOID_13757	excessive tearing	http://purl.obolibrary.org/obo/DOID_1400	lacrimal apparatus disease		
http://purl.obolibrary.org/obo/DOID_13929	lacrimal duct obstruction	http://purl.obolibrary.org/obo/DOID_1400	lacrimal apparatus disease		
http://purl.obolibrary.org/obo/DOID_1399	primary lacrimal atrophy	http://purl.obolibrary.org/obo/DOID_1400	lacrimal apparatus disease		
http://purl.obolibrary.org/obo/DOID_950	dacryoadenitis	http://purl.obolibrary.org/obo/DOID_1400	lacrimal apparatus disease		
http://purl.obolibrary.org/obo/DOID_1404	residual stage angle-closure glaucoma	http://purl.obolibrary.org/obo/DOID_1405	primary angle-closure glaucoma		
http://purl.obolibrary.org/obo/DOID_9383	iridocyclitis	http://purl.obolibrary.org/obo/DOID_1407	anterior uveitis		
http://purl.obolibrary.org/obo/DOID_14145	malignant anus melanoma	http://purl.obolibrary.org/obo/DOID_1909	melanoma		
http://purl.obolibrary.org/obo/DOID_11406	choroiditis	http://purl.obolibrary.org/obo/DOID_1417	choroid disease		
http://purl.obolibrary.org/obo/DOID_12759	choroid cancer	http://purl.obolibrary.org/obo/DOID_3479	uveal cancer		
http://purl.obolibrary.org/obo/DOID_1415	gyrate atrophy	http://purl.obolibrary.org/obo/DOID_1417	choroid disease		
http://purl.obolibrary.org/obo/DOID_11885	ureteral benign neoplasm	http://purl.obolibrary.org/obo/DOID_731	urinary system benign neoplasm		
http://purl.obolibrary.org/obo/DOID_1425	pyoureter	http://purl.obolibrary.org/obo/DOID_1426	ureteral disease		
http://purl.obolibrary.org/obo/DOID_13656	gastrin secretion abnormality	http://purl.obolibrary.org/obo/DOID_1428	endocrine pancreas disease		
http://purl.obolibrary.org/obo/DOID_14427	abnormality of glucagon secretion	http://purl.obolibrary.org/obo/DOID_1428	endocrine pancreas disease		
http://purl.obolibrary.org/obo/DOID_10742	cerebral lipidosis	http://purl.obolibrary.org/obo/DOID_1443	cerebral degeneration		
http://purl.obolibrary.org/obo/DOID_14524	senile degeneration of brain	http://purl.obolibrary.org/obo/DOID_1443	cerebral degeneration		
http://purl.obolibrary.org/obo/DOID_14111	median rhomboid glossitis	http://purl.obolibrary.org/obo/DOID_1456	glossitis		
http://purl.obolibrary.org/obo/DOID_1453	atrophic glossitis	http://purl.obolibrary.org/obo/DOID_1456	glossitis		
http://purl.obolibrary.org/obo/DOID_11633	thyroid hormone resistance syndrome	http://purl.obolibrary.org/obo/DOID_1459	hypothyroidism		
http://purl.obolibrary.org/obo/DOID_11634	myxedema	http://purl.obolibrary.org/obo/DOID_1459	hypothyroidism		
http://purl.obolibrary.org/obo/DOID_1458	postsurgical hypothyroidism	http://purl.obolibrary.org/obo/DOID_1459	hypothyroidism		
http://purl.obolibrary.org/obo/DOID_14555	Foster-Kennedy syndrome	http://purl.obolibrary.org/obo/DOID_146	papilledema		
http://purl.obolibrary.org/obo/DOID_14121	blue toe syndrome	http://purl.obolibrary.org/obo/DOID_1461	cholesterol embolism		
http://purl.obolibrary.org/obo/DOID_1460	atheroembolism of kidney	http://purl.obolibrary.org/obo/DOID_557	kidney disease		
http://purl.obolibrary.org/obo/DOID_13943	acute gonococcal prostatitis	http://purl.obolibrary.org/obo/DOID_14654	prostatitis		
http://purl.obolibrary.org/obo/DOID_1134	gingival recession	http://purl.obolibrary.org/obo/DOID_1483	gingival disease		
http://purl.obolibrary.org/obo/DOID_3086	gingival overgrowth	http://purl.obolibrary.org/obo/DOID_1483	gingival disease		
http://purl.obolibrary.org/obo/DOID_3087	gingivitis	http://purl.obolibrary.org/obo/DOID_1483	gingival disease		
http://purl.obolibrary.org/obo/DOID_1525	nodular nonsuppurative panniculitis	http://purl.obolibrary.org/obo/DOID_1526	panniculitis		
http://purl.obolibrary.org/obo/DOID_11615	penile cancer	http://purl.obolibrary.org/obo/DOID_3856	male reproductive organ cancer		
http://purl.obolibrary.org/obo/DOID_13031	balanoposthitis	http://purl.obolibrary.org/obo/DOID_1529	penile disease		
http://purl.obolibrary.org/obo/DOID_13033	balanitis	http://purl.obolibrary.org/obo/DOID_1529	penile disease		
http://purl.obolibrary.org/obo/DOID_12782	cicatricial ectropion	http://purl.obolibrary.org/obo/DOID_1570	ectropion		
http://purl.obolibrary.org/obo/DOID_13356	senile ectropion	http://purl.obolibrary.org/obo/DOID_1570	ectropion		
http://purl.obolibrary.org/obo/DOID_1569	mechanical ectropion	http://purl.obolibrary.org/obo/DOID_1570	ectropion		
http://purl.obolibrary.org/obo/DOID_1571	spastic ectropion	http://purl.obolibrary.org/obo/DOID_1570	ectropion		
http://purl.obolibrary.org/obo/DOID_11126	acquired thrombocytopenia	http://purl.obolibrary.org/obo/DOID_1588	thrombocytopenia		
http://purl.obolibrary.org/obo/DOID_1587	thrombocytopenia due to platelet alloimmunization	http://purl.obolibrary.org/obo/DOID_1588	thrombocytopenia		
http://purl.obolibrary.org/obo/DOID_10782	mesenteric lymphadenitis	http://purl.obolibrary.org/obo/DOID_1602	lymphadenitis		
http://purl.obolibrary.org/obo/DOID_13072	acquired hyperkeratosis	http://purl.obolibrary.org/obo/DOID_161	keratosis		
http://purl.obolibrary.org/obo/DOID_6498	seborrheic keratosis	http://purl.obolibrary.org/obo/DOID_3165	skin benign neoplasm		
http://purl.obolibrary.org/obo/DOID_12355	prostatocystitis	http://purl.obolibrary.org/obo/DOID_1679	cystitis		
http://purl.obolibrary.org/obo/DOID_13507	trigonitis	http://purl.obolibrary.org/obo/DOID_1679	cystitis		
http://purl.obolibrary.org/obo/DOID_13949	interstitial cystitis	http://purl.obolibrary.org/obo/DOID_1679	cystitis		
http://purl.obolibrary.org/obo/DOID_1680	chronic cystitis	http://purl.obolibrary.org/obo/DOID_1679	cystitis		
http://purl.obolibrary.org/obo/DOID_13832	patent ductus arteriosus	http://purl.obolibrary.org/obo/DOID_1682	congenital heart disease		
http://purl.obolibrary.org/obo/DOID_1681	heart septal defect	http://purl.obolibrary.org/obo/DOID_1682	congenital heart disease		
http://purl.obolibrary.org/obo/DOID_1726	partial of retinal vein occlusion	http://purl.obolibrary.org/obo/DOID_1727	retinal vein occlusion		
http://purl.obolibrary.org/obo/DOID_13514	venous tributary occlusion of retina	http://purl.obolibrary.org/obo/DOID_1729	retinal vascular occlusion		
http://purl.obolibrary.org/obo/DOID_1727	retinal vein occlusion	http://purl.obolibrary.org/obo/DOID_1729	retinal vascular occlusion		
http://purl.obolibrary.org/obo/DOID_8483	retinal artery occlusion	http://purl.obolibrary.org/obo/DOID_1729	retinal vascular occlusion		
http://purl.obolibrary.org/obo/DOID_12239	anal margin squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_4284	anal margin carcinoma		
http://purl.obolibrary.org/obo/DOID_13538	cornea squamous cell carcinoma	http://purl.obolibrary.org/obo/DOID_6199	cornea cancer		
http://purl.obolibrary.org/obo/DOID_13865	facial neuralgia	http://purl.obolibrary.org/obo/DOID_1756	facial nerve disease		
http://purl.obolibrary.org/obo/DOID_13934	facial paralysis	http://purl.obolibrary.org/obo/DOID_1756	facial nerve disease		
http://purl.obolibrary.org/obo/DOID_14075	geniculate ganglionitis	http://purl.obolibrary.org/obo/DOID_1756	facial nerve disease		
http://purl.obolibrary.org/obo/DOID_2462	retinal vascular disease	http://purl.obolibrary.org/obo/DOID_5679	retinal disease		
http://purl.obolibrary.org/obo/DOID_11481	constrictive pericarditis	http://purl.obolibrary.org/obo/DOID_1787	pericarditis		
http://purl.obolibrary.org/obo/DOID_1375	neonatal urinary tract infectious disease	http://purl.obolibrary.org/obo/DOID_18	urinary system disease		
http://purl.obolibrary.org/obo/DOID_1439	pyuria	http://purl.obolibrary.org/obo/DOID_18	urinary system disease		
http://purl.obolibrary.org/obo/DOID_5200	urinary tract obstruction	http://purl.obolibrary.org/obo/DOID_18	urinary system disease		
http://purl.obolibrary.org/obo/DOID_11832	visual epilepsy	http://purl.obolibrary.org/obo/DOID_1826	epilepsy		
http://purl.obolibrary.org/obo/DOID_13658	infective urethral stricture	http://purl.obolibrary.org/obo/DOID_1829	urethral stricture		
http://purl.obolibrary.org/obo/DOID_13620	patent foramen ovale	http://purl.obolibrary.org/obo/DOID_1882	atrial heart septal defect		
http://purl.obolibrary.org/obo/DOID_12010	anterior ischemic optic neuropathy	http://purl.obolibrary.org/obo/DOID_1891	optic nerve disease		
http://purl.obolibrary.org/obo/DOID_13561	optic disk drusen	http://purl.obolibrary.org/obo/DOID_1891	optic nerve disease		
http://purl.obolibrary.org/obo/DOID_146	papilledema	http://purl.obolibrary.org/obo/DOID_1891	optic nerve disease		
http://purl.obolibrary.org/obo/DOID_13160	scrotum melanoma	http://purl.obolibrary.org/obo/DOID_518	scrotum neoplasm		
http://purl.obolibrary.org/obo/DOID_14151	spinal cord melanoma	http://purl.obolibrary.org/obo/DOID_5612	spinal cancer		
http://purl.obolibrary.org/obo/DOID_4359	amelanotic melanoma	http://purl.obolibrary.org/obo/DOID_1909	melanoma		
http://purl.obolibrary.org/obo/DOID_11383	cryptorchidism	http://purl.obolibrary.org/obo/DOID_1923	disorder of sexual development		
http://purl.obolibrary.org/obo/DOID_11613	hyperandrogenism	http://purl.obolibrary.org/obo/DOID_1923	disorder of sexual development		
http://purl.obolibrary.org/obo/DOID_3765	pseudohermaphroditism	http://purl.obolibrary.org/obo/DOID_1923	disorder of sexual development		
http://purl.obolibrary.org/obo/DOID_10587	Krabbe disease	http://purl.obolibrary.org/obo/DOID_1927	sphingolipidosis		
http://purl.obolibrary.org/obo/DOID_11864	peripheral focal chorioretinitis	http://purl.obolibrary.org/obo/DOID_1979	focal chorioretinitis		
http://purl.obolibrary.org/obo/DOID_10873	Kuhnt-Junius degeneration	http://purl.obolibrary.org/obo/DOID_2007	degeneration of macula and posterior pole		
http://purl.obolibrary.org/obo/DOID_13214	hole retinal cyst	http://purl.obolibrary.org/obo/DOID_2007	degeneration of macula and posterior pole		
http://purl.obolibrary.org/obo/DOID_14245	cystoid macular retinal degeneration	http://purl.obolibrary.org/obo/DOID_2007	degeneration of macula and posterior pole		
http://purl.obolibrary.org/obo/DOID_2569	retinal drusen	http://purl.obolibrary.org/obo/DOID_2007	degeneration of macula and posterior pole		
http://purl.obolibrary.org/obo/DOID_13088	periventricular leukomalacia	http://purl.obolibrary.org/obo/DOID_2034	encephalomalacia		
http://purl.obolibrary.org/obo/DOID_13566	tibial collateral ligament bursitis	http://purl.obolibrary.org/obo/DOID_204	enthesopathy		
http://purl.obolibrary.org/obo/DOID_12084	transient arthropathy	http://purl.obolibrary.org/obo/DOID_2092	transient arthritis		
http://purl.obolibrary.org/obo/DOID_12661	tooth ankylosis	http://purl.obolibrary.org/obo/DOID_227	ankylosis		
http://purl.obolibrary.org/obo/DOID_12733	hypercementosis	http://purl.obolibrary.org/obo/DOID_214	teeth hard tissue disease		
http://purl.obolibrary.org/obo/DOID_13240	tooth resorption	http://purl.obolibrary.org/obo/DOID_214	teeth hard tissue disease		
http://purl.obolibrary.org/obo/DOID_2498	tooth erosion	http://purl.obolibrary.org/obo/DOID_214	teeth hard tissue disease		
http://purl.obolibrary.org/obo/DOID_10461	dentin caries	http://purl.obolibrary.org/obo/DOID_216	dental caries		
http://purl.obolibrary.org/obo/DOID_11736	odontoclasia	http://purl.obolibrary.org/obo/DOID_216	dental caries		
http://purl.obolibrary.org/obo/DOID_14089	root caries	http://purl.obolibrary.org/obo/DOID_216	dental caries		
http://purl.obolibrary.org/obo/DOID_14683	Binder syndrome	http://purl.obolibrary.org/obo/DOID_2163	nasal cavity disease		
http://purl.obolibrary.org/obo/DOID_12190	descending colon cancer	http://purl.obolibrary.org/obo/DOID_219	colon cancer		
http://purl.obolibrary.org/obo/DOID_12192	sigmoid colon cancer	http://purl.obolibrary.org/obo/DOID_219	colon cancer		
http://purl.obolibrary.org/obo/DOID_3326	purpura	http://purl.obolibrary.org/obo/DOID_2213	hemorrhagic disease		
http://purl.obolibrary.org/obo/DOID_11125	qualitative platelet defect	http://purl.obolibrary.org/obo/DOID_2218	blood platelet disease		
http://purl.obolibrary.org/obo/DOID_12382	complex partial epilepsy	http://purl.obolibrary.org/obo/DOID_2234	focal epilepsy		
http://purl.obolibrary.org/obo/DOID_12351	alcoholic hepatitis	http://purl.obolibrary.org/obo/DOID_0070658	alcohol-associated liver disease		
http://purl.obolibrary.org/obo/DOID_13003	vertebrobasilar insufficiency	http://purl.obolibrary.org/obo/DOID_224	transient cerebral ischemia		
http://purl.obolibrary.org/obo/DOID_13002	subclavian steal syndrome	http://purl.obolibrary.org/obo/DOID_225	syndrome		
http://purl.obolibrary.org/obo/DOID_14283	primary hypertrophic osteoarthropathy	http://purl.obolibrary.org/obo/DOID_225	syndrome		
http://purl.obolibrary.org/obo/DOID_13097	intracranial arteriosclerosis	http://purl.obolibrary.org/obo/DOID_2349	arteriosclerosis		
http://purl.obolibrary.org/obo/DOID_10657	colonic lymphangioma	http://purl.obolibrary.org/obo/DOID_235	colonic benign neoplasm		
http://purl.obolibrary.org/obo/DOID_11518	abnormal pupillary function	http://purl.obolibrary.org/obo/DOID_238	pupil disease		
http://purl.obolibrary.org/obo/DOID_11452	perinatal jaundice due to hepatocellular damage	http://purl.obolibrary.org/obo/DOID_2383	neonatal jaundice		
http://purl.obolibrary.org/obo/DOID_12043	kernicterus due to isoimmunization	http://purl.obolibrary.org/obo/DOID_2383	neonatal jaundice		
http://purl.obolibrary.org/obo/DOID_1406	iritis	http://purl.obolibrary.org/obo/DOID_240	iris disease		
http://purl.obolibrary.org/obo/DOID_10772	thrombotic thrombocytopenic purpura	http://purl.obolibrary.org/obo/DOID_2452	thrombophilia		
http://purl.obolibrary.org/obo/DOID_11247	disseminated intravascular coagulation	http://purl.obolibrary.org/obo/DOID_2452	thrombophilia		
http://purl.obolibrary.org/obo/DOID_13999	contact blepharoconjunctivitis	http://purl.obolibrary.org/obo/DOID_2456	blepharoconjunctivitis		
http://purl.obolibrary.org/obo/DOID_11295	retinal microaneurysm	http://purl.obolibrary.org/obo/DOID_2462	retinal vascular disease		
http://purl.obolibrary.org/obo/DOID_8947	diabetic retinopathy	http://purl.obolibrary.org/obo/DOID_2462	retinal vascular disease		
http://purl.obolibrary.org/obo/DOID_8646	substance-induced psychosis	http://purl.obolibrary.org/obo/DOID_2468	psychotic disorder		
http://purl.obolibrary.org/obo/DOID_13326	chronic follicular conjunctivitis	http://purl.obolibrary.org/obo/DOID_2475	chronic conjunctivitis		
http://purl.obolibrary.org/obo/DOID_13341	parasitic conjunctivitis	http://purl.obolibrary.org/obo/DOID_2475	chronic conjunctivitis		
http://purl.obolibrary.org/obo/DOID_10846	angiodysplasia of intestine	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		
http://purl.obolibrary.org/obo/DOID_13629	dentine erosion	http://purl.obolibrary.org/obo/DOID_2498	tooth erosion		
http://purl.obolibrary.org/obo/DOID_14140	pulp erosion	http://purl.obolibrary.org/obo/DOID_2498	tooth erosion		
http://purl.obolibrary.org/obo/DOID_11994	atrophy of testis	http://purl.obolibrary.org/obo/DOID_2519	testicular disease		
http://purl.obolibrary.org/obo/DOID_11996	spermatic cord torsion	http://purl.obolibrary.org/obo/DOID_2519	testicular disease		
http://purl.obolibrary.org/obo/DOID_12332	hematocele of tunica vaginalis testis	http://purl.obolibrary.org/obo/DOID_2519	testicular disease		
http://purl.obolibrary.org/obo/DOID_11786	splenic sequestration	http://purl.obolibrary.org/obo/DOID_2529	splenic disease		
http://purl.obolibrary.org/obo/DOID_11787	chronic congestive splenomegaly	http://purl.obolibrary.org/obo/DOID_2529	splenic disease		
http://purl.obolibrary.org/obo/DOID_14183	alcoholic neuropathy	http://purl.obolibrary.org/obo/DOID_2537	inflammatory and toxic neuropathy		
http://purl.obolibrary.org/obo/DOID_14184	polyneuropathy due to drug	http://purl.obolibrary.org/obo/DOID_2537	inflammatory and toxic neuropathy		
http://purl.obolibrary.org/obo/DOID_14402	critical illness polyneuropathy	http://purl.obolibrary.org/obo/DOID_2537	inflammatory and toxic neuropathy		
http://purl.obolibrary.org/obo/DOID_13081	hemangioma of subcutaneous tissue	http://purl.obolibrary.org/obo/DOID_3165	skin benign neoplasm		
http://purl.obolibrary.org/obo/DOID_14308	skin epithelioid hemangioma	http://purl.obolibrary.org/obo/DOID_3165	skin benign neoplasm		
http://purl.obolibrary.org/obo/DOID_471	skin hemangioma	http://purl.obolibrary.org/obo/DOID_3165	skin benign neoplasm		
http://purl.obolibrary.org/obo/DOID_474	histiocytoid hemangioma	http://purl.obolibrary.org/obo/DOID_255	hemangioma		
http://purl.obolibrary.org/obo/DOID_5241	hemangioblastoma	http://purl.obolibrary.org/obo/DOID_255	hemangioma		
http://purl.obolibrary.org/obo/DOID_11472	subglottis cancer	http://purl.obolibrary.org/obo/DOID_2596	larynx cancer		
http://purl.obolibrary.org/obo/DOID_13348	laryngeal cartilage cancer	http://purl.obolibrary.org/obo/DOID_2596	larynx cancer		
http://purl.obolibrary.org/obo/DOID_13476	supraglottis cancer	http://purl.obolibrary.org/obo/DOID_2596	larynx cancer		
http://purl.obolibrary.org/obo/DOID_10610	pancreatic steatorrhea	http://purl.obolibrary.org/obo/DOID_26	pancreas disease		
http://purl.obolibrary.org/obo/DOID_13313	pancreatic mucinous ductal ectasia	http://purl.obolibrary.org/obo/DOID_26	pancreas disease		
http://purl.obolibrary.org/obo/DOID_139	squamous cell papilloma	http://purl.obolibrary.org/obo/DOID_2615	papilloma		
http://purl.obolibrary.org/obo/DOID_1627	intraductal papilloma	http://purl.obolibrary.org/obo/DOID_3013	intraductal breast benign neoplasm		
http://purl.obolibrary.org/obo/DOID_173	eccrine sweat gland neoplasm	http://purl.obolibrary.org/obo/DOID_2664	sweat gland benign neoplasm		
http://purl.obolibrary.org/obo/DOID_13454	gonococcal synovitis	http://purl.obolibrary.org/obo/DOID_2703	synovitis		
http://purl.obolibrary.org/obo/DOID_10762	portal hypertension	http://purl.obolibrary.org/obo/DOID_272	hepatic vascular disease		
http://purl.obolibrary.org/obo/DOID_13738	hepatic infarction	http://purl.obolibrary.org/obo/DOID_272	hepatic vascular disease		
http://purl.obolibrary.org/obo/DOID_13739	nutmeg liver	http://purl.obolibrary.org/obo/DOID_272	hepatic vascular disease		
http://purl.obolibrary.org/obo/DOID_11330	erysipelas	http://purl.obolibrary.org/obo/DOID_2723	dermatitis		
http://purl.obolibrary.org/obo/DOID_11129	dislocation of ear ossicle	http://purl.obolibrary.org/obo/DOID_2742	auditory system disease		
http://purl.obolibrary.org/obo/DOID_11783	necrosis of ear ossicle	http://purl.obolibrary.org/obo/DOID_2742	auditory system disease		
http://purl.obolibrary.org/obo/DOID_2889	retrocochlear disease	http://purl.obolibrary.org/obo/DOID_2742	auditory system disease		
http://purl.obolibrary.org/obo/DOID_5100	middle ear disease	http://purl.obolibrary.org/obo/DOID_2742	auditory system disease		
http://purl.obolibrary.org/obo/DOID_11400	pyelonephritis	http://purl.obolibrary.org/obo/DOID_2744	pyelitis		
http://purl.obolibrary.org/obo/DOID_4205	cerebellum cancer	http://purl.obolibrary.org/obo/DOID_4706	infratentorial cancer		
http://purl.obolibrary.org/obo/DOID_1352	paranasal sinus disease	http://purl.obolibrary.org/obo/DOID_2825	nose disease		
http://purl.obolibrary.org/obo/DOID_2163	nasal cavity disease	http://purl.obolibrary.org/obo/DOID_2825	nose disease		
http://purl.obolibrary.org/obo/DOID_10783	methemoglobinemia	http://purl.obolibrary.org/obo/DOID_2860	hemoglobinopathy		
http://purl.obolibrary.org/obo/DOID_12657	vestibulocochlear nerve disease	http://purl.obolibrary.org/obo/DOID_5656	cranial nerve disease		
http://purl.obolibrary.org/obo/DOID_12756	lacrimal duct cancer	http://purl.obolibrary.org/obo/DOID_292	lacrimal system cancer		
http://purl.obolibrary.org/obo/DOID_10976	membranous glomerulonephritis	http://purl.obolibrary.org/obo/DOID_2921	glomerulonephritis		
http://purl.obolibrary.org/obo/DOID_11036	chronic rapidly progressive glomerulonephritis	http://purl.obolibrary.org/obo/DOID_2921	glomerulonephritis		
http://purl.obolibrary.org/obo/DOID_13138	acute proliferative glomerulonephritis	http://purl.obolibrary.org/obo/DOID_2921	glomerulonephritis		
http://purl.obolibrary.org/obo/DOID_14064	acute poststreptococcal glomerulonephritis	http://purl.obolibrary.org/obo/DOID_2921	glomerulonephritis		
http://purl.obolibrary.org/obo/DOID_4781	diffuse glomerulonephritis	http://purl.obolibrary.org/obo/DOID_2921	glomerulonephritis		
http://purl.obolibrary.org/obo/DOID_566	labyrinthine dysfunction	http://purl.obolibrary.org/obo/DOID_2952	inner ear disease		
http://purl.obolibrary.org/obo/DOID_12276	malignant tumor of undescended testis	http://purl.obolibrary.org/obo/DOID_2998	testicular cancer		
http://purl.obolibrary.org/obo/DOID_12286	testicular leukemia	http://purl.obolibrary.org/obo/DOID_2998	testicular cancer		
http://purl.obolibrary.org/obo/DOID_12342	retroperitoneum carcinoma	http://purl.obolibrary.org/obo/DOID_5875	retroperitoneal cancer		
http://purl.obolibrary.org/obo/DOID_3445	scrotal carcinoma	http://purl.obolibrary.org/obo/DOID_518	scrotum neoplasm		
http://purl.obolibrary.org/obo/DOID_3181	oligodendroglioma	http://purl.obolibrary.org/obo/DOID_3070	high grade glioma		
http://purl.obolibrary.org/obo/DOID_13924	necrotizing ulcerative gingivitis	http://purl.obolibrary.org/obo/DOID_3087	gingivitis		
http://purl.obolibrary.org/obo/DOID_171	neuroectodermal tumor	http://purl.obolibrary.org/obo/DOID_3093	nervous system cancer		
http://purl.obolibrary.org/obo/DOID_12298	intrahepatic gall duct cancer	http://purl.obolibrary.org/obo/DOID_3121	gallbladder cancer		
http://purl.obolibrary.org/obo/DOID_12639	pyloric stenosis	http://purl.obolibrary.org/obo/DOID_3122	gastric outlet obstruction		
http://purl.obolibrary.org/obo/DOID_11014	anorectal stricture	http://purl.obolibrary.org/obo/DOID_3128	anus disease		
http://purl.obolibrary.org/obo/DOID_11374	anal spasm	http://purl.obolibrary.org/obo/DOID_3128	anus disease		
http://purl.obolibrary.org/obo/DOID_14498	lipoid proteinosis	http://purl.obolibrary.org/obo/DOID_3146	lipid metabolism disorder		
http://purl.obolibrary.org/obo/DOID_14692	Smith-Lemli-Opitz syndrome	http://purl.obolibrary.org/obo/DOID_3146	lipid metabolism disorder		
http://purl.obolibrary.org/obo/DOID_14116	multiple symmetric lipomatosis	http://purl.obolibrary.org/obo/DOID_3153	lipomatosis		
http://purl.obolibrary.org/obo/DOID_172	clear cell acanthoma	http://purl.obolibrary.org/obo/DOID_3165	skin benign neoplasm		
http://purl.obolibrary.org/obo/DOID_174	acanthoma	http://purl.obolibrary.org/obo/DOID_3168	squamous cell neoplasm		
http://purl.obolibrary.org/obo/DOID_1089	tethered spinal cord syndrome	http://purl.obolibrary.org/obo/DOID_319	spinal cord disease		
http://purl.obolibrary.org/obo/DOID_12689	acoustic neuroma	http://purl.obolibrary.org/obo/DOID_3192	neurilemmoma		
http://purl.obolibrary.org/obo/DOID_956	peripheral nerve schwannoma	http://purl.obolibrary.org/obo/DOID_3192	neurilemmoma		
http://purl.obolibrary.org/obo/DOID_14500	fucosidosis	http://purl.obolibrary.org/obo/DOID_3211	lysosomal storage disease		
http://purl.obolibrary.org/obo/DOID_14022	algoneurodystrophy	http://purl.obolibrary.org/obo/DOID_3223	complex regional pain syndrome		
http://purl.obolibrary.org/obo/DOID_14224	tracheal calcification	http://purl.obolibrary.org/obo/DOID_3225	tracheal disease		
http://purl.obolibrary.org/obo/DOID_12835	quadriplegia	http://purl.obolibrary.org/obo/DOID_331	central nervous system disease		
http://purl.obolibrary.org/obo/DOID_319	spinal cord disease	http://purl.obolibrary.org/obo/DOID_331	central nervous system disease		
http://purl.obolibrary.org/obo/DOID_824	periodontitis	http://purl.obolibrary.org/obo/DOID_3388	periodontal disease		
http://purl.obolibrary.org/obo/DOID_11840	coronary artery vasospasm	http://purl.obolibrary.org/obo/DOID_3393	coronary artery disease		
http://purl.obolibrary.org/obo/DOID_11843	coronary artery anomaly	http://purl.obolibrary.org/obo/DOID_3393	coronary artery disease		
http://purl.obolibrary.org/obo/DOID_11847	coronary thrombosis	http://purl.obolibrary.org/obo/DOID_0060903	thrombosis		
http://purl.obolibrary.org/obo/DOID_13001	carotid stenosis	http://purl.obolibrary.org/obo/DOID_3407	carotid artery disease		
http://purl.obolibrary.org/obo/DOID_1272	telangiectasis	http://purl.obolibrary.org/obo/DOID_341	peripheral vascular disease		
http://purl.obolibrary.org/obo/DOID_12918	thromboangiitis obliterans	http://purl.obolibrary.org/obo/DOID_341	peripheral vascular disease		
http://purl.obolibrary.org/obo/DOID_13252	mesenteric vascular occlusion	http://purl.obolibrary.org/obo/DOID_341	peripheral vascular disease		
http://purl.obolibrary.org/obo/DOID_1729	retinal vascular occlusion	http://purl.obolibrary.org/obo/DOID_341	peripheral vascular disease		
http://purl.obolibrary.org/obo/DOID_12491	Vagus nerve disease	http://purl.obolibrary.org/obo/DOID_3418	glossopharyngeal nerve disease		
http://purl.obolibrary.org/obo/DOID_13866	multiple cranial nerve palsy	http://purl.obolibrary.org/obo/DOID_3418	glossopharyngeal nerve disease		
http://purl.obolibrary.org/obo/DOID_14423	glossopharyngeal neuralgia	http://purl.obolibrary.org/obo/DOID_3418	glossopharyngeal nerve disease		
http://purl.obolibrary.org/obo/DOID_240	iris disease	http://purl.obolibrary.org/obo/DOID_3480	uveal disease		
http://purl.obolibrary.org/obo/DOID_10941	intracranial aneurysm	http://purl.obolibrary.org/obo/DOID_3527	cerebral arterial disease		
http://purl.obolibrary.org/obo/DOID_14174	central neurocytoma	http://purl.obolibrary.org/obo/DOID_3541	cerebral ventricle cancer		
http://purl.obolibrary.org/obo/DOID_13687	chronic duodenal ileus	http://purl.obolibrary.org/obo/DOID_3558	duodenal obstruction		
http://purl.obolibrary.org/obo/DOID_11316	histoplasmosis retinitis	http://purl.obolibrary.org/obo/DOID_3612	retinitis		
http://purl.obolibrary.org/obo/DOID_1130	pituitary infarct	http://purl.obolibrary.org/obo/DOID_3646	necrosis of pituitary		
http://purl.obolibrary.org/obo/DOID_11355	bladder calculus	http://purl.obolibrary.org/obo/DOID_9590	lower urinary tract calculus		
http://purl.obolibrary.org/obo/DOID_12143	neurogenic bladder	http://purl.obolibrary.org/obo/DOID_365	bladder disease		
http://purl.obolibrary.org/obo/DOID_12144	low compliance bladder	http://purl.obolibrary.org/obo/DOID_365	bladder disease		
http://purl.obolibrary.org/obo/DOID_12145	detrusor sphincter dyssynergia	http://purl.obolibrary.org/obo/DOID_365	bladder disease		
http://purl.obolibrary.org/obo/DOID_13948	bladder neck obstruction	http://purl.obolibrary.org/obo/DOID_365	bladder disease		
http://purl.obolibrary.org/obo/DOID_12309	urticaria pigmentosa	http://purl.obolibrary.org/obo/DOID_3663	cutaneous mastocytosis		
http://purl.obolibrary.org/obo/DOID_12016	frontal lobe neoplasm	http://purl.obolibrary.org/obo/DOID_368	cerebrum cancer		
http://purl.obolibrary.org/obo/DOID_3153	lipomatosis	http://purl.obolibrary.org/obo/DOID_37	skin disease		
http://purl.obolibrary.org/obo/DOID_10541	microinvasive gastric cancer	http://purl.obolibrary.org/obo/DOID_3717	gastric adenocarcinoma		
http://purl.obolibrary.org/obo/DOID_12123	postinflammatory pulmonary fibrosis	http://purl.obolibrary.org/obo/DOID_3770	pulmonary fibrosis		
http://purl.obolibrary.org/obo/DOID_1123	spondyloarthropathy	http://purl.obolibrary.org/obo/DOID_381	arthropathy		
http://purl.obolibrary.org/obo/DOID_12225	Plica syndrome	http://purl.obolibrary.org/obo/DOID_381	arthropathy		
http://purl.obolibrary.org/obo/DOID_13781	hypermobility syndrome	http://purl.obolibrary.org/obo/DOID_381	arthropathy		
http://purl.obolibrary.org/obo/DOID_14107	De Quervain disease	http://purl.obolibrary.org/obo/DOID_381	arthropathy		
http://purl.obolibrary.org/obo/DOID_14276	shoulder impingement syndrome	http://purl.obolibrary.org/obo/DOID_381	arthropathy		
http://purl.obolibrary.org/obo/DOID_14284	patellofemoral pain syndrome	http://purl.obolibrary.org/obo/DOID_381	arthropathy		
http://purl.obolibrary.org/obo/DOID_14286	neurogenic arthropathy	http://purl.obolibrary.org/obo/DOID_381	arthropathy		
http://purl.obolibrary.org/obo/DOID_1670	Behcet's syndrome arthropathy	http://purl.obolibrary.org/obo/DOID_381	arthropathy		
http://purl.obolibrary.org/obo/DOID_2092	transient arthritis	http://purl.obolibrary.org/obo/DOID_381	arthropathy		
http://purl.obolibrary.org/obo/DOID_13169	spermatic cord cancer	http://purl.obolibrary.org/obo/DOID_3856	male reproductive organ cancer		
http://purl.obolibrary.org/obo/DOID_518	scrotum neoplasm	http://purl.obolibrary.org/obo/DOID_3856	male reproductive organ cancer		
http://purl.obolibrary.org/obo/DOID_5639	rete testis neoplasm	http://purl.obolibrary.org/obo/DOID_3856	male reproductive organ cancer		
http://purl.obolibrary.org/obo/DOID_10880	iliac vein thrombophlebitis	http://purl.obolibrary.org/obo/DOID_3875	thrombophlebitis		
http://purl.obolibrary.org/obo/DOID_12282	femoral vein thrombophlebitis	http://purl.obolibrary.org/obo/DOID_3875	thrombophlebitis		
http://purl.obolibrary.org/obo/DOID_10778	fiedler's myocarditis	http://purl.obolibrary.org/obo/DOID_3951	acute myocarditis		
http://purl.obolibrary.org/obo/DOID_10493	adrenal cortical hypofunction	http://purl.obolibrary.org/obo/DOID_3952	adrenal cortex disease		
http://purl.obolibrary.org/obo/DOID_12932	endomyocardial fibrosis	http://purl.obolibrary.org/obo/DOID_397	restrictive cardiomyopathy		
http://purl.obolibrary.org/obo/DOID_12935	alcoholic cardiomyopathy	http://purl.obolibrary.org/obo/DOID_3978	extrinsic cardiomyopathy		
http://purl.obolibrary.org/obo/DOID_5749	pulmonary valve disease	http://purl.obolibrary.org/obo/DOID_4079	heart valve disease		
http://purl.obolibrary.org/obo/DOID_61	mitral valve disease	http://purl.obolibrary.org/obo/DOID_4079	heart valve disease		
http://purl.obolibrary.org/obo/DOID_5082	liver cirrhosis	http://purl.obolibrary.org/obo/DOID_409	liver disease		
http://purl.obolibrary.org/obo/DOID_13168	prepuce cancer	http://purl.obolibrary.org/obo/DOID_4159	skin cancer		
http://purl.obolibrary.org/obo/DOID_1577	limited scleroderma	http://purl.obolibrary.org/obo/DOID_418	systemic scleroderma		
http://purl.obolibrary.org/obo/DOID_1578	pulmonary systemic sclerosis	http://purl.obolibrary.org/obo/DOID_850	lung disease		
http://purl.obolibrary.org/obo/DOID_1580	diffuse scleroderma	http://purl.obolibrary.org/obo/DOID_418	systemic scleroderma		
http://purl.obolibrary.org/obo/DOID_4195	hyperglycemia	http://purl.obolibrary.org/obo/DOID_4194	glucose metabolism disease		
http://purl.obolibrary.org/obo/DOID_10603	glucose intolerance	http://purl.obolibrary.org/obo/DOID_4195	hyperglycemia		
http://purl.obolibrary.org/obo/DOID_11669	hypertrichosis of eyelid	http://purl.obolibrary.org/obo/DOID_530	eyelid disease		
http://purl.obolibrary.org/obo/DOID_929	myopathy of extraocular muscle	http://purl.obolibrary.org/obo/DOID_423	myopathy		
http://purl.obolibrary.org/obo/DOID_10989	conjunctival vascular disease	http://purl.obolibrary.org/obo/DOID_4251	conjunctival disease		
http://purl.obolibrary.org/obo/DOID_11653	conjunctival deposit	http://purl.obolibrary.org/obo/DOID_4251	conjunctival disease		
http://purl.obolibrary.org/obo/DOID_1248	ocular hyperemia	http://purl.obolibrary.org/obo/DOID_4251	conjunctival disease		
http://purl.obolibrary.org/obo/DOID_14043	neonatal myasthenia gravis	http://purl.obolibrary.org/obo/DOID_437	myasthenia gravis		
http://purl.obolibrary.org/obo/DOID_2007	degeneration of macula and posterior pole	http://purl.obolibrary.org/obo/DOID_4448	macular degeneration		
http://purl.obolibrary.org/obo/DOID_4479	pseudohypoaldosteronism	http://purl.obolibrary.org/obo/DOID_447	renal tubular transport disease		
http://purl.obolibrary.org/obo/DOID_11671	hypotrichosis of eyelid	http://purl.obolibrary.org/obo/DOID_530	eyelid disease		
http://purl.obolibrary.org/obo/DOID_11240	appendiceal neoplasm	http://purl.obolibrary.org/obo/DOID_4610	intestinal benign neoplasm		
http://purl.obolibrary.org/obo/DOID_7505	small intestine benign neoplasm	http://purl.obolibrary.org/obo/DOID_4610	intestinal benign neoplasm		
http://purl.obolibrary.org/obo/DOID_11382	corneal neovascularization	http://purl.obolibrary.org/obo/DOID_4677	keratitis		
http://purl.obolibrary.org/obo/DOID_11871	macular keratitis	http://purl.obolibrary.org/obo/DOID_4677	keratitis		
http://purl.obolibrary.org/obo/DOID_12196	superficial keratitis	http://purl.obolibrary.org/obo/DOID_4677	keratitis		
http://purl.obolibrary.org/obo/DOID_13626	photokeratitis	http://purl.obolibrary.org/obo/DOID_4677	keratitis		
http://purl.obolibrary.org/obo/DOID_8463	corneal ulcer	http://purl.obolibrary.org/obo/DOID_4677	keratitis		
http://purl.obolibrary.org/obo/DOID_9858	deep keratitis	http://purl.obolibrary.org/obo/DOID_4677	keratitis		
http://purl.obolibrary.org/obo/DOID_10661	mediastinum ganglioneuroblastoma	http://purl.obolibrary.org/obo/DOID_4691	malignant mediastinal neurogenic neoplasm		
http://purl.obolibrary.org/obo/DOID_12064	mediastinum neurofibroma	http://purl.obolibrary.org/obo/DOID_962	neurofibroma		
http://purl.obolibrary.org/obo/DOID_11132	prostatic hypertrophy	http://purl.obolibrary.org/obo/DOID_47	prostate disease		
http://purl.obolibrary.org/obo/DOID_13689	prostate calculus	http://purl.obolibrary.org/obo/DOID_9590	lower urinary tract calculus		
http://purl.obolibrary.org/obo/DOID_14654	prostatitis	http://purl.obolibrary.org/obo/DOID_47	prostate disease		
http://purl.obolibrary.org/obo/DOID_4203	brain stem cancer	http://purl.obolibrary.org/obo/DOID_4706	infratentorial cancer		
http://purl.obolibrary.org/obo/DOID_14066	acute diffuse nephritis	http://purl.obolibrary.org/obo/DOID_4781	diffuse glomerulonephritis		
http://purl.obolibrary.org/obo/DOID_10835	chylocele of tunica vaginalis	http://purl.obolibrary.org/obo/DOID_48	male reproductive system disease		
http://purl.obolibrary.org/obo/DOID_11997	spermatocele	http://purl.obolibrary.org/obo/DOID_48	male reproductive system disease		
http://purl.obolibrary.org/obo/DOID_12333	male genital organ stricture	http://purl.obolibrary.org/obo/DOID_48	male reproductive system disease		
http://purl.obolibrary.org/obo/DOID_12335	male genital organ vascular disease	http://purl.obolibrary.org/obo/DOID_48	male reproductive system disease		
http://purl.obolibrary.org/obo/DOID_12336	male infertility	http://purl.obolibrary.org/obo/DOID_48	male reproductive system disease		
http://purl.obolibrary.org/obo/DOID_1529	penile disease	http://purl.obolibrary.org/obo/DOID_48	male reproductive system disease		
http://purl.obolibrary.org/obo/DOID_47	prostate disease	http://purl.obolibrary.org/obo/DOID_48	male reproductive system disease		
http://purl.obolibrary.org/obo/DOID_9365	vesiculitis	http://purl.obolibrary.org/obo/DOID_48	male reproductive system disease		
http://purl.obolibrary.org/obo/DOID_13839	extrapyramidal and movement disease	http://purl.obolibrary.org/obo/DOID_480	movement disease		
http://purl.obolibrary.org/obo/DOID_1713	benign shuddering attacks	http://purl.obolibrary.org/obo/DOID_480	movement disease		
http://purl.obolibrary.org/obo/DOID_14463	cavernous hemangioma of orbit	http://purl.obolibrary.org/obo/DOID_483	cavernous hemangioma		
http://purl.obolibrary.org/obo/DOID_14491	regional ureteric cancer	http://purl.obolibrary.org/obo/DOID_4939	ureter carcinoma		
http://purl.obolibrary.org/obo/DOID_12424	thyrocalcitonin secretion disease	http://purl.obolibrary.org/obo/DOID_50	thyroid gland disease		
http://purl.obolibrary.org/obo/DOID_12837	thyroid crisis	http://purl.obolibrary.org/obo/DOID_50	thyroid gland disease		
http://purl.obolibrary.org/obo/DOID_7166	thyroiditis	http://purl.obolibrary.org/obo/DOID_50	thyroid gland disease		
http://purl.obolibrary.org/obo/DOID_1660	malignant pineal area germ cell neoplasm	http://purl.obolibrary.org/obo/DOID_5032	pineal gland cancer		
http://purl.obolibrary.org/obo/DOID_1108	esophagus melanoma	http://purl.obolibrary.org/obo/DOID_5041	esophageal cancer		
http://purl.obolibrary.org/obo/DOID_14018	alcoholic liver cirrhosis	http://purl.obolibrary.org/obo/DOID_0070658	alcohol-associated liver disease		
http://purl.obolibrary.org/obo/DOID_10964	cholesteatoma of middle ear	http://purl.obolibrary.org/obo/DOID_869	cholesteatoma		
http://purl.obolibrary.org/obo/DOID_5782	tympanic membrane disease	http://purl.obolibrary.org/obo/DOID_5100	middle ear disease		
http://purl.obolibrary.org/obo/DOID_14032	malignant parietal pleura tumor	http://purl.obolibrary.org/obo/DOID_5158	pleural cancer		
http://purl.obolibrary.org/obo/DOID_14033	malignant visceral pleura tumor	http://purl.obolibrary.org/obo/DOID_5158	pleural cancer		
http://purl.obolibrary.org/obo/DOID_14175	von Hippel-Lindau disease	http://purl.obolibrary.org/obo/DOID_5241	hemangioblastoma		
http://purl.obolibrary.org/obo/DOID_10486	intestinal atresia	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		
http://purl.obolibrary.org/obo/DOID_10607	tropical sprue	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		
http://purl.obolibrary.org/obo/DOID_10611	protein-losing enteropathy	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		
http://purl.obolibrary.org/obo/DOID_1285	rectal disease	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		
http://purl.obolibrary.org/obo/DOID_13248	mucocele of appendix	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		
http://purl.obolibrary.org/obo/DOID_13249	pneumatosis cystoides intestinalis	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		
http://purl.obolibrary.org/obo/DOID_13419	neurogenic bowel	http://purl.obolibrary.org/obo/DOID_5295	intestinal disease		
http://purl.obolibrary.org/obo/DOID_3646	necrosis of pituitary	http://purl.obolibrary.org/obo/DOID_53	pituitary gland disease		
http://purl.obolibrary.org/obo/DOID_12397	entropion	http://purl.obolibrary.org/obo/DOID_530	eyelid disease		
http://purl.obolibrary.org/obo/DOID_12959	lagophthalmos	http://purl.obolibrary.org/obo/DOID_530	eyelid disease		
http://purl.obolibrary.org/obo/DOID_1570	ectropion	http://purl.obolibrary.org/obo/DOID_530	eyelid disease		
http://purl.obolibrary.org/obo/DOID_12514	retinal perforation	http://purl.obolibrary.org/obo/DOID_5327	retinal detachment		
http://purl.obolibrary.org/obo/DOID_11189	pulp degeneration	http://purl.obolibrary.org/obo/DOID_5330	dental pulp disease		
http://purl.obolibrary.org/obo/DOID_10655	lipoma of colon	http://purl.obolibrary.org/obo/DOID_6460	large intestine lipoma		
http://purl.obolibrary.org/obo/DOID_10656	colon leiomyoma	http://purl.obolibrary.org/obo/DOID_5353	colonic disease		
http://purl.obolibrary.org/obo/DOID_11371	functional diarrhea	http://purl.obolibrary.org/obo/DOID_5353	colonic disease		
http://purl.obolibrary.org/obo/DOID_13135	exophthalmic ophthalmoplegia	http://purl.obolibrary.org/obo/DOID_539	ophthalmoplegia		
http://purl.obolibrary.org/obo/DOID_10863	paralytic squint	http://purl.obolibrary.org/obo/DOID_540	strabismus		
http://purl.obolibrary.org/obo/DOID_1143	exotropia	http://purl.obolibrary.org/obo/DOID_540	strabismus		
http://purl.obolibrary.org/obo/DOID_12445	conjugate gaze palsy	http://purl.obolibrary.org/obo/DOID_540	strabismus		
http://purl.obolibrary.org/obo/DOID_12667	binocular vision disease	http://purl.obolibrary.org/obo/DOID_540	strabismus		
http://purl.obolibrary.org/obo/DOID_9306	mechanical strabismus	http://purl.obolibrary.org/obo/DOID_540	strabismus		
http://purl.obolibrary.org/obo/DOID_12679	nephrocalcinosis	http://purl.obolibrary.org/obo/DOID_557	kidney disease		
http://purl.obolibrary.org/obo/DOID_13068	renal osteodystrophy	http://purl.obolibrary.org/obo/DOID_557	kidney disease		
http://purl.obolibrary.org/obo/DOID_2744	pyelitis	http://purl.obolibrary.org/obo/DOID_557	kidney disease		
http://purl.obolibrary.org/obo/DOID_3116	kidney benign neoplasm	http://purl.obolibrary.org/obo/DOID_731	urinary system benign neoplasm		
http://purl.obolibrary.org/obo/DOID_447	renal tubular transport disease	http://purl.obolibrary.org/obo/DOID_557	kidney disease		
http://purl.obolibrary.org/obo/DOID_12098	trigeminal neuralgia	http://purl.obolibrary.org/obo/DOID_561	trigeminal nerve disease		
http://purl.obolibrary.org/obo/DOID_1140	spinal canal and spinal cord meningioma	http://purl.obolibrary.org/obo/DOID_5612	spinal cancer		
http://purl.obolibrary.org/obo/DOID_13742	neurofibroma of spinal cord	http://purl.obolibrary.org/obo/DOID_962	neurofibroma		
http://purl.obolibrary.org/obo/DOID_1279	ocular motility disease	http://purl.obolibrary.org/obo/DOID_5656	cranial nerve disease		
http://purl.obolibrary.org/obo/DOID_238	pupil disease	http://purl.obolibrary.org/obo/DOID_5614	eye disease		
http://purl.obolibrary.org/obo/DOID_790	ocular hypotension	http://purl.obolibrary.org/obo/DOID_5614	eye disease		
http://purl.obolibrary.org/obo/DOID_8501	fundus dystrophy	http://purl.obolibrary.org/obo/DOID_5614	eye disease		
http://purl.obolibrary.org/obo/DOID_8886	chorioretinitis	http://purl.obolibrary.org/obo/DOID_5614	eye disease		
http://purl.obolibrary.org/obo/DOID_9368	keratoconjunctivitis	http://purl.obolibrary.org/obo/DOID_5614	eye disease		
http://purl.obolibrary.org/obo/DOID_9799	eye degenerative disease	http://purl.obolibrary.org/obo/DOID_5614	eye disease		
http://purl.obolibrary.org/obo/DOID_9835	refractive error	http://purl.obolibrary.org/obo/DOID_5614	eye disease		
http://purl.obolibrary.org/obo/DOID_11550	oculomotor nerve paralysis	http://purl.obolibrary.org/obo/DOID_562	third cranial nerve disease		
http://purl.obolibrary.org/obo/DOID_13864	trochlear nerve disease	http://purl.obolibrary.org/obo/DOID_5656	cranial nerve disease		
http://purl.obolibrary.org/obo/DOID_561	trigeminal nerve disease	http://purl.obolibrary.org/obo/DOID_5656	cranial nerve disease		
http://purl.obolibrary.org/obo/DOID_562	third cranial nerve disease	http://purl.obolibrary.org/obo/DOID_5656	cranial nerve disease		
http://purl.obolibrary.org/obo/DOID_14165	bilateral hyperactive labyrinth	http://purl.obolibrary.org/obo/DOID_566	labyrinthine dysfunction		
http://purl.obolibrary.org/obo/DOID_14413	labyrinthine bilateral reactive loss	http://purl.obolibrary.org/obo/DOID_566	labyrinthine dysfunction		
http://purl.obolibrary.org/obo/DOID_11086	chorioretinal scar	http://purl.obolibrary.org/obo/DOID_5679	retinal disease		
http://purl.obolibrary.org/obo/DOID_11561	hypertensive retinopathy	http://purl.obolibrary.org/obo/DOID_5679	retinal disease		
http://purl.obolibrary.org/obo/DOID_13025	retinopathy of prematurity	http://purl.obolibrary.org/obo/DOID_5679	retinal disease		
http://purl.obolibrary.org/obo/DOID_13401	angioid streaks	http://purl.obolibrary.org/obo/DOID_5679	retinal disease		
http://purl.obolibrary.org/obo/DOID_14000	rubeosis iridis	http://purl.obolibrary.org/obo/DOID_5679	retinal disease		
http://purl.obolibrary.org/obo/DOID_3612	retinitis	http://purl.obolibrary.org/obo/DOID_5679	retinal disease		
http://purl.obolibrary.org/obo/DOID_5327	retinal detachment	http://purl.obolibrary.org/obo/DOID_5679	retinal disease		
http://purl.obolibrary.org/obo/DOID_11831	cortical blindness	http://purl.obolibrary.org/obo/DOID_5691	visual cortex disease		
http://purl.obolibrary.org/obo/DOID_12168	ulnar nerve lesion	http://purl.obolibrary.org/obo/DOID_572	mononeuritis of upper limb and mononeuritis multiplex		
http://purl.obolibrary.org/obo/DOID_10627	primary optic atrophy	http://purl.obolibrary.org/obo/DOID_5723	optic atrophy		
http://purl.obolibrary.org/obo/DOID_10631	partial optic atrophy	http://purl.obolibrary.org/obo/DOID_5723	optic atrophy		
http://purl.obolibrary.org/obo/DOID_10973	acute salpingitis	http://purl.obolibrary.org/obo/DOID_5733	salpingitis		
http://purl.obolibrary.org/obo/DOID_5731	chronic salpingitis	http://purl.obolibrary.org/obo/DOID_5733	salpingitis		
http://purl.obolibrary.org/obo/DOID_13913	lumbosacral plexus lesion	http://purl.obolibrary.org/obo/DOID_574	peripheral nervous system disease		
http://purl.obolibrary.org/obo/DOID_573	nerve compression syndrome	http://purl.obolibrary.org/obo/DOID_574	peripheral nervous system disease		
http://purl.obolibrary.org/obo/DOID_11217	chronic tympanitis	http://purl.obolibrary.org/obo/DOID_5782	tympanic membrane disease		
http://purl.obolibrary.org/obo/DOID_1214	tympanosclerosis	http://purl.obolibrary.org/obo/DOID_5782	tympanic membrane disease		
http://purl.obolibrary.org/obo/DOID_12546	atrophic nonflaccid tympanic membrane	http://purl.obolibrary.org/obo/DOID_5782	tympanic membrane disease		
http://purl.obolibrary.org/obo/DOID_13790	acute tympanitis	http://purl.obolibrary.org/obo/DOID_5782	tympanic membrane disease		
http://purl.obolibrary.org/obo/DOID_2860	hemoglobinopathy	http://purl.obolibrary.org/obo/DOID_589	congenital hemolytic anemia		
http://purl.obolibrary.org/obo/DOID_14534	malignant cardiac peripheral nerve sheath neoplasm	http://purl.obolibrary.org/obo/DOID_5940	malignant peripheral nerve sheath tumor		
http://purl.obolibrary.org/obo/DOID_14172	rheumatic congestive heart failure	http://purl.obolibrary.org/obo/DOID_6000	congestive heart failure		
http://purl.obolibrary.org/obo/DOID_10485	esophageal atresia	http://purl.obolibrary.org/obo/DOID_6050	esophageal disease		
http://purl.obolibrary.org/obo/DOID_112	esophageal varix	http://purl.obolibrary.org/obo/DOID_866	vein disease		
http://purl.obolibrary.org/obo/DOID_11963	esophagitis	http://purl.obolibrary.org/obo/DOID_6050	esophageal disease		
http://purl.obolibrary.org/obo/DOID_13185	esophageal diverticulosis	http://purl.obolibrary.org/obo/DOID_6050	esophageal disease		
http://purl.obolibrary.org/obo/DOID_13186	megaesophagus	http://purl.obolibrary.org/obo/DOID_6050	esophageal disease		
http://purl.obolibrary.org/obo/DOID_11502	mitral valve insufficiency	http://purl.obolibrary.org/obo/DOID_61	mitral valve disease		
http://purl.obolibrary.org/obo/DOID_11184	acute conjunctivitis	http://purl.obolibrary.org/obo/DOID_6195	conjunctivitis		
http://purl.obolibrary.org/obo/DOID_2475	chronic conjunctivitis	http://purl.obolibrary.org/obo/DOID_6195	conjunctivitis		
http://purl.obolibrary.org/obo/DOID_12451	sulfhemoglobinemia	http://purl.obolibrary.org/obo/DOID_620	blood protein disease		
http://purl.obolibrary.org/obo/DOID_971	tendinitis	http://purl.obolibrary.org/obo/DOID_633	myositis		
http://purl.obolibrary.org/obo/DOID_13042	persistent fetal circulation syndrome	http://purl.obolibrary.org/obo/DOID_6432	pulmonary hypertension		
http://purl.obolibrary.org/obo/DOID_11949	Creutzfeldt-Jakob disease	http://purl.obolibrary.org/obo/DOID_649	prion disease		
http://purl.obolibrary.org/obo/DOID_11685	inflamed seborrheic keratosis	http://purl.obolibrary.org/obo/DOID_6498	seborrheic keratosis		
http://purl.obolibrary.org/obo/DOID_12105	inflammatory spondylopathy	http://purl.obolibrary.org/obo/DOID_6590	spondylitis		
http://purl.obolibrary.org/obo/DOID_13127	gonococcal spondylitis	http://purl.obolibrary.org/obo/DOID_6590	spondylitis		
http://purl.obolibrary.org/obo/DOID_10991	basal ganglia cerebrovascular disease	http://purl.obolibrary.org/obo/DOID_6713	cerebrovascular disease		
http://purl.obolibrary.org/obo/DOID_11390	cerebral arteritis	http://purl.obolibrary.org/obo/DOID_6713	cerebrovascular disease		
http://purl.obolibrary.org/obo/DOID_13089	intracranial arterial disease	http://purl.obolibrary.org/obo/DOID_6713	cerebrovascular disease		
http://purl.obolibrary.org/obo/DOID_13100	intracranial vasospasm	http://purl.obolibrary.org/obo/DOID_6713	cerebrovascular disease		
http://purl.obolibrary.org/obo/DOID_5976	occlusion precerebral artery	http://purl.obolibrary.org/obo/DOID_6713	cerebrovascular disease		
http://purl.obolibrary.org/obo/DOID_12558	chronic progressive external ophthalmoplegia	http://purl.obolibrary.org/obo/DOID_699	mitochondrial myopathy		
http://purl.obolibrary.org/obo/DOID_14350	suppurative thyroiditis	http://purl.obolibrary.org/obo/DOID_7166	thyroiditis		
http://purl.obolibrary.org/obo/DOID_14351	Riedel's fibrosing thyroiditis	http://purl.obolibrary.org/obo/DOID_7166	thyroiditis		
http://purl.obolibrary.org/obo/DOID_14353	acute thyroiditis	http://purl.obolibrary.org/obo/DOID_7166	thyroiditis		
http://purl.obolibrary.org/obo/DOID_12577	urethral obstruction	http://purl.obolibrary.org/obo/DOID_732	urethral disease		
http://purl.obolibrary.org/obo/DOID_1343	urethritis	http://purl.obolibrary.org/obo/DOID_732	urethral disease		
http://purl.obolibrary.org/obo/DOID_13461	urethral intrinsic sphincter deficiency	http://purl.obolibrary.org/obo/DOID_732	urethral disease		
http://purl.obolibrary.org/obo/DOID_13498	urethral syndrome	http://purl.obolibrary.org/obo/DOID_732	urethral disease		
http://purl.obolibrary.org/obo/DOID_620	blood protein disease	http://purl.obolibrary.org/obo/DOID_74	hematopoietic system disease		
http://purl.obolibrary.org/obo/DOID_11223	small intestine diverticulitis	http://purl.obolibrary.org/obo/DOID_7475	diverticulitis		
http://purl.obolibrary.org/obo/DOID_2529	splenic disease	http://purl.obolibrary.org/obo/DOID_75	lymphatic system disease		
http://purl.obolibrary.org/obo/DOID_9942	lymph node disease	http://purl.obolibrary.org/obo/DOID_75	lymphatic system disease		
http://purl.obolibrary.org/obo/DOID_10808	gastric ulcer	http://purl.obolibrary.org/obo/DOID_750	peptic ulcer disease		
http://purl.obolibrary.org/obo/DOID_10927	gastrojejunal ulcer	http://purl.obolibrary.org/obo/DOID_750	peptic ulcer disease		
http://purl.obolibrary.org/obo/DOID_1724	duodenal ulcer	http://purl.obolibrary.org/obo/DOID_750	peptic ulcer disease		
http://purl.obolibrary.org/obo/DOID_1159	functional gastric disease	http://purl.obolibrary.org/obo/DOID_76	stomach disease		
http://purl.obolibrary.org/obo/DOID_12070	Dieulafoy lesion	http://purl.obolibrary.org/obo/DOID_76	stomach disease		
http://purl.obolibrary.org/obo/DOID_12072	pylorospasm	http://purl.obolibrary.org/obo/DOID_76	stomach disease		
http://purl.obolibrary.org/obo/DOID_12234	cascade stomach	http://purl.obolibrary.org/obo/DOID_76	stomach disease		
http://purl.obolibrary.org/obo/DOID_12642	hiatus hernia	http://purl.obolibrary.org/obo/DOID_76	stomach disease		
http://purl.obolibrary.org/obo/DOID_3122	gastric outlet obstruction	http://purl.obolibrary.org/obo/DOID_76	stomach disease		
http://purl.obolibrary.org/obo/DOID_371	extracranial neuroblastoma	http://purl.obolibrary.org/obo/DOID_769	neuroblastoma		
http://purl.obolibrary.org/obo/DOID_4163	ganglioneuroblastoma	http://purl.obolibrary.org/obo/DOID_769	neuroblastoma		
http://purl.obolibrary.org/obo/DOID_750	peptic ulcer disease	http://purl.obolibrary.org/obo/DOID_77	gastrointestinal system disease		
http://purl.obolibrary.org/obo/DOID_11527	laryngostenosis	http://purl.obolibrary.org/obo/DOID_786	laryngeal disease		
http://purl.obolibrary.org/obo/DOID_11766	blind hypotensive eye	http://purl.obolibrary.org/obo/DOID_790	ocular hypotension		
http://purl.obolibrary.org/obo/DOID_12349	primary eye hypotony	http://purl.obolibrary.org/obo/DOID_790	ocular hypotension		
http://purl.obolibrary.org/obo/DOID_12573	neonatal thyrotoxicosis	http://purl.obolibrary.org/obo/DOID_7997	thyrotoxicosis		
http://purl.obolibrary.org/obo/DOID_10719	toxic diffuse goiter	http://purl.obolibrary.org/obo/DOID_7998	hyperthyroidism		
http://purl.obolibrary.org/obo/DOID_11277	Plummer's disease	http://purl.obolibrary.org/obo/DOID_7998	hyperthyroidism		
http://purl.obolibrary.org/obo/DOID_11269	chronic apical periodontitis	http://purl.obolibrary.org/obo/DOID_823	periapical periodontitis		
http://purl.obolibrary.org/obo/DOID_11693	acute apical periodontitis	http://purl.obolibrary.org/obo/DOID_823	periapical periodontitis		
http://purl.obolibrary.org/obo/DOID_823	periapical periodontitis	http://purl.obolibrary.org/obo/DOID_824	periodontitis		
http://purl.obolibrary.org/obo/DOID_11242	plethora of newborn	http://purl.obolibrary.org/obo/DOID_8432	polycythemia		
http://purl.obolibrary.org/obo/DOID_14495	dumping syndrome	http://purl.obolibrary.org/obo/DOID_8439	postgastrectomy syndrome		
http://purl.obolibrary.org/obo/DOID_12108	bullous retinoschisis	http://purl.obolibrary.org/obo/DOID_8465	retinoschisis		
http://purl.obolibrary.org/obo/DOID_12161	peripheral retinal degeneration	http://purl.obolibrary.org/obo/DOID_8466	retinal degeneration		
http://purl.obolibrary.org/obo/DOID_8465	retinoschisis	http://purl.obolibrary.org/obo/DOID_8466	retinal degeneration		
http://purl.obolibrary.org/obo/DOID_13094	branch retinal artery occlusion	http://purl.obolibrary.org/obo/DOID_8483	retinal artery occlusion		
http://purl.obolibrary.org/obo/DOID_14522	partial arterial retinal occlusion	http://purl.obolibrary.org/obo/DOID_8483	retinal artery occlusion		
http://purl.obolibrary.org/obo/DOID_11874	abnormal threshold of rods	http://purl.obolibrary.org/obo/DOID_8499	night blindness		
http://purl.obolibrary.org/obo/DOID_13227	retinal dystrophies primarily involving Bruch's membrane	http://purl.obolibrary.org/obo/DOID_8501	fundus dystrophy		
http://purl.obolibrary.org/obo/DOID_14251	vitreoretinal dystrophy	http://purl.obolibrary.org/obo/DOID_8501	fundus dystrophy		
http://purl.obolibrary.org/obo/DOID_14252	dystrophies primarily involving the retinal pigment epithelium	http://purl.obolibrary.org/obo/DOID_8501	fundus dystrophy		
http://purl.obolibrary.org/obo/DOID_14253	retinal dystrophy in systemic or cerebroretinal lipidoses	http://purl.obolibrary.org/obo/DOID_8501	fundus dystrophy		
http://purl.obolibrary.org/obo/DOID_11907	ecthyma	http://purl.obolibrary.org/obo/DOID_8504	impetigo		
http://purl.obolibrary.org/obo/DOID_12326	chronic pulmonary heart disease	http://purl.obolibrary.org/obo/DOID_8515	Cor pulmonale		
http://purl.obolibrary.org/obo/DOID_1203	drug-induced mental disorder	http://purl.obolibrary.org/obo/DOID_8646	substance-induced psychosis		
http://purl.obolibrary.org/obo/DOID_1195	ischemic neuropathy	http://purl.obolibrary.org/obo/DOID_870	neuropathy		
http://purl.obolibrary.org/obo/DOID_9743	diabetic neuropathy	http://purl.obolibrary.org/obo/DOID_870	neuropathy		
http://purl.obolibrary.org/obo/DOID_12731	pars planitis	http://purl.obolibrary.org/obo/DOID_8886	chorioretinitis		
http://purl.obolibrary.org/obo/DOID_1979	focal chorioretinitis	http://purl.obolibrary.org/obo/DOID_8886	chorioretinitis		
http://purl.obolibrary.org/obo/DOID_13207	proliferative diabetic retinopathy	http://purl.obolibrary.org/obo/DOID_8947	diabetic retinopathy		
http://purl.obolibrary.org/obo/DOID_13208	background diabetic retinopathy	http://purl.obolibrary.org/obo/DOID_8947	diabetic retinopathy		
http://purl.obolibrary.org/obo/DOID_14548	steroid-induced glaucoma - borderline	http://purl.obolibrary.org/obo/DOID_9283	borderline glaucoma		
http://purl.obolibrary.org/obo/DOID_11175	enophthalmos	http://purl.obolibrary.org/obo/DOID_930	orbital disease		
http://purl.obolibrary.org/obo/DOID_11230	acute orbital inflammation	http://purl.obolibrary.org/obo/DOID_930	orbital disease		
http://purl.obolibrary.org/obo/DOID_12359	endocrine exophthalmos	http://purl.obolibrary.org/obo/DOID_930	orbital disease		
http://purl.obolibrary.org/obo/DOID_12360	lateral displacement of eye	http://purl.obolibrary.org/obo/DOID_930	orbital disease		
http://purl.obolibrary.org/obo/DOID_12363	intermittent proptosis	http://purl.obolibrary.org/obo/DOID_930	orbital disease		
http://purl.obolibrary.org/obo/DOID_12364	pulsating exophthalmos	http://purl.obolibrary.org/obo/DOID_930	orbital disease		
http://purl.obolibrary.org/obo/DOID_1397	chronic orbital inflammation	http://purl.obolibrary.org/obo/DOID_930	orbital disease		
http://purl.obolibrary.org/obo/DOID_14233	orbital cyst	http://purl.obolibrary.org/obo/DOID_930	orbital disease		
http://purl.obolibrary.org/obo/DOID_14459	hemangioma of orbit	http://purl.obolibrary.org/obo/DOID_930	orbital disease		
http://purl.obolibrary.org/obo/DOID_11581	phlyctenulosis	http://purl.obolibrary.org/obo/DOID_9368	keratoconjunctivitis		
http://purl.obolibrary.org/obo/DOID_12125	neurotrophic keratoconjunctivitis	http://purl.obolibrary.org/obo/DOID_9368	keratoconjunctivitis		
http://purl.obolibrary.org/obo/DOID_12197	punctate epithelial keratoconjunctivitis	http://purl.obolibrary.org/obo/DOID_9368	keratoconjunctivitis		
http://purl.obolibrary.org/obo/DOID_13014	shipyard eye	http://purl.obolibrary.org/obo/DOID_9368	keratoconjunctivitis		
http://purl.obolibrary.org/obo/DOID_10802	acute gonococcal epididymo-orchitis	http://purl.obolibrary.org/obo/DOID_9401	epididymo-orchitis		
http://purl.obolibrary.org/obo/DOID_10648	acute inferoposterior infarction	http://purl.obolibrary.org/obo/DOID_9408	acute myocardial infarction		
http://purl.obolibrary.org/obo/DOID_10649	acute inferolateral myocardial infarction	http://purl.obolibrary.org/obo/DOID_9408	acute myocardial infarction		
http://purl.obolibrary.org/obo/DOID_10651	acute anterolateral myocardial infarction	http://purl.obolibrary.org/obo/DOID_9408	acute myocardial infarction		
http://purl.obolibrary.org/obo/DOID_13823	parasitic eyelid infestation	http://purl.obolibrary.org/obo/DOID_9423	blepharitis		
http://purl.obolibrary.org/obo/DOID_13825	squamous blepharitis	http://purl.obolibrary.org/obo/DOID_9423	blepharitis		
http://purl.obolibrary.org/obo/DOID_11459	pseudotumor cerebri	http://purl.obolibrary.org/obo/DOID_9428	intracranial hypertension		
http://purl.obolibrary.org/obo/DOID_14268	sclerosing cholangitis	http://purl.obolibrary.org/obo/DOID_9446	cholangitis		
http://purl.obolibrary.org/obo/DOID_14269	suppurative cholangitis	http://purl.obolibrary.org/obo/DOID_9446	cholangitis		
http://purl.obolibrary.org/obo/DOID_14270	ascending cholangitis	http://purl.obolibrary.org/obo/DOID_9446	cholangitis		
http://purl.obolibrary.org/obo/DOID_14271	acute cholangitis	http://purl.obolibrary.org/obo/DOID_9446	cholangitis		
http://purl.obolibrary.org/obo/DOID_14272	pericholangitis	http://purl.obolibrary.org/obo/DOID_9446	cholangitis		
http://purl.obolibrary.org/obo/DOID_14503	neuronal ceroid lipofuscinosis	http://purl.obolibrary.org/obo/DOID_9455	lipid storage disease		
http://purl.obolibrary.org/obo/DOID_14559	anaerobic meningitis	http://purl.obolibrary.org/obo/DOID_9470	bacterial meningitis		
http://purl.obolibrary.org/obo/DOID_12156	arachnoiditis	http://purl.obolibrary.org/obo/DOID_9471	meningitis		
http://purl.obolibrary.org/obo/DOID_12524	plantar nerve lesion	http://purl.obolibrary.org/obo/DOID_9473	mononeuritis of lower limb		
http://purl.obolibrary.org/obo/DOID_12527	common peroneal nerve lesion	http://purl.obolibrary.org/obo/DOID_9473	mononeuritis of lower limb		
http://purl.obolibrary.org/obo/DOID_12528	lesion of sciatic nerve	http://purl.obolibrary.org/obo/DOID_9473	mononeuritis of lower limb		
http://purl.obolibrary.org/obo/DOID_12529	tibial nerve palsy	http://purl.obolibrary.org/obo/DOID_9473	mononeuritis of lower limb		
http://purl.obolibrary.org/obo/DOID_12809	chronic lacrimal gland enlargement	http://purl.obolibrary.org/obo/DOID_950	dacryoadenitis		
http://purl.obolibrary.org/obo/DOID_12986	leukostasis	http://purl.obolibrary.org/obo/DOID_9500	leukocyte disease		
http://purl.obolibrary.org/obo/DOID_12257	medulloadrenal hyperfunction	http://purl.obolibrary.org/obo/DOID_9553	adrenal gland disease		
http://purl.obolibrary.org/obo/DOID_3947	adrenal gland hyperfunction	http://purl.obolibrary.org/obo/DOID_9553	adrenal gland disease		
http://purl.obolibrary.org/obo/DOID_13664	post-vaccinal encephalitis	http://purl.obolibrary.org/obo/DOID_9588	encephalitis		
http://purl.obolibrary.org/obo/DOID_11875	denture stomatitis	http://purl.obolibrary.org/obo/DOID_9637	stomatitis		
http://purl.obolibrary.org/obo/DOID_11771	spontaneous ocular nystagmus	http://purl.obolibrary.org/obo/DOID_9650	pathologic nystagmus		
http://purl.obolibrary.org/obo/DOID_13174	dissociated nystagmus	http://purl.obolibrary.org/obo/DOID_9650	pathologic nystagmus		
http://purl.obolibrary.org/obo/DOID_14192	bicipital tenosynovitis	http://purl.obolibrary.org/obo/DOID_970	tenosynovitis		
http://purl.obolibrary.org/obo/DOID_10471	patellar tendinitis	http://purl.obolibrary.org/obo/DOID_971	tendinitis		
http://purl.obolibrary.org/obo/DOID_10810	tibialis tendinitis	http://purl.obolibrary.org/obo/DOID_971	tendinitis		
http://purl.obolibrary.org/obo/DOID_14181	calcific tendinitis	http://purl.obolibrary.org/obo/DOID_971	tendinitis		
http://purl.obolibrary.org/obo/DOID_11816	vitreous syneresis	http://purl.obolibrary.org/obo/DOID_9720	vitreous disease		
http://purl.obolibrary.org/obo/DOID_10697	chronic endophthalmitis	http://purl.obolibrary.org/obo/DOID_9724	purulent endophthalmitis		
http://purl.obolibrary.org/obo/DOID_11752	acute endophthalmitis	http://purl.obolibrary.org/obo/DOID_9724	purulent endophthalmitis		
http://purl.obolibrary.org/obo/DOID_13732	panophthalmitis	http://purl.obolibrary.org/obo/DOID_9724	purulent endophthalmitis		
http://purl.obolibrary.org/obo/DOID_2825	nose disease	http://purl.obolibrary.org/obo/DOID_974	upper respiratory tract disease		
http://purl.obolibrary.org/obo/DOID_3225	tracheal disease	http://purl.obolibrary.org/obo/DOID_974	upper respiratory tract disease		
http://purl.obolibrary.org/obo/DOID_786	laryngeal disease	http://purl.obolibrary.org/obo/DOID_974	upper respiratory tract disease		
http://purl.obolibrary.org/obo/DOID_9561	nasopharyngeal disease	http://purl.obolibrary.org/obo/DOID_974	upper respiratory tract disease		
http://purl.obolibrary.org/obo/DOID_13409	perforation of bile duct	http://purl.obolibrary.org/obo/DOID_9741	biliary tract disease		
http://purl.obolibrary.org/obo/DOID_12337	varicocele	http://purl.obolibrary.org/obo/DOID_9742	pelvic varices		
http://purl.obolibrary.org/obo/DOID_12785	diabetic polyneuropathy	http://purl.obolibrary.org/obo/DOID_9743	diabetic neuropathy		
http://purl.obolibrary.org/obo/DOID_11772	leukocoria	http://purl.obolibrary.org/obo/DOID_9799	eye degenerative disease		
http://purl.obolibrary.org/obo/DOID_11850	transient refractive change	http://purl.obolibrary.org/obo/DOID_9835	refractive error		
http://purl.obolibrary.org/obo/DOID_12273	anisometropia	http://purl.obolibrary.org/obo/DOID_9835	refractive error		
http://purl.obolibrary.org/obo/DOID_13490	active cochleovestibular Meniere's disease	http://purl.obolibrary.org/obo/DOID_9849	Meniere's disease		
http://purl.obolibrary.org/obo/DOID_13491	active vestibular Meniere's disease	http://purl.obolibrary.org/obo/DOID_9849	Meniere's disease		
http://purl.obolibrary.org/obo/DOID_13492	active cochlear Meniere's disease	http://purl.obolibrary.org/obo/DOID_9849	Meniere's disease		
http://purl.obolibrary.org/obo/DOID_13353	diffuse interstitial keratitis	http://purl.obolibrary.org/obo/DOID_9857	interstitial keratitis		
http://purl.obolibrary.org/obo/DOID_11543	corneal abscess	http://purl.obolibrary.org/obo/DOID_9858	deep keratitis		
http://purl.obolibrary.org/obo/DOID_11719	oculopharyngeal muscular dystrophy	http://purl.obolibrary.org/obo/DOID_9884	muscular dystrophy		
http://purl.obolibrary.org/obo/DOID_11727	facioscapulohumeral muscular dystrophy	http://purl.obolibrary.org/obo/DOID_9884	muscular dystrophy		
http://purl.obolibrary.org/obo/DOID_12996	acute dacryocystitis	http://purl.obolibrary.org/obo/DOID_9938	dacryocystitis		
http://purl.obolibrary.org/obo/DOID_12997	Phlegmonous dacryocystitis	http://purl.obolibrary.org/obo/DOID_9938	dacryocystitis		
http://purl.obolibrary.org/obo/DOID_13585	alveolar periostitis	http://purl.obolibrary.org/obo/DOID_9957	periostitis		
http://purl.obolibrary.org/obo/DOID_11981	morbid obesity	http://purl.obolibrary.org/obo/DOID_9970	obesity		
http://purl.obolibrary.org/obo/HP_0410008	Abnormality of the peripheral nervous system	http://purl.obolibrary.org/obo/HP_0000707	Abnormality of the nervous system		
http://purl.obolibrary.org/obo/HP_0040068	Abnormality of limb bone	http://purl.obolibrary.org/obo/HP_0040064	Abnormality of limbs		
http://purl.obolibrary.org/obo/HP_0001480	Freckling	http://purl.obolibrary.org/obo/HP_0001000	Abnormality of skin pigmentation		
http://purl.obolibrary.org/obo/HP_0004326	Cachexia	http://purl.obolibrary.org/obo/HP_0001824	Weight loss		
http://purl.obolibrary.org/obo/HP_0033100	Increased proteinogenic amino acid level in urine	http://purl.obolibrary.org/obo/HP_0003355	Aminoaciduria		
http://purl.obolibrary.org/obo/NCBITaxon_11077	Kunjin virus	http://purl.obolibrary.org/obo/NCBITaxon_11082	West Nile virus		
http://purl.obolibrary.org/obo/NCBITaxon_121224	Pediculus humanus corporis	http://purl.obolibrary.org/obo/NCBITaxon_121225	Pediculus humanus		
http://purl.obolibrary.org/obo/NCBITaxon_11053	dengue virus type 1	http://purl.obolibrary.org/obo/NCBITaxon_12637	Dengue virus		
http://purl.obolibrary.org/obo/NCBITaxon_47466	Borrelia miyamotoi	http://purl.obolibrary.org/obo/NCBITaxon_138	Borrelia		
http://purl.obolibrary.org/obo/NCBITaxon_1639	Listeria monocytogenes	http://purl.obolibrary.org/obo/NCBITaxon_1637	Listeria		
http://purl.obolibrary.org/obo/NCBITaxon_1783272	Bacillati	http://purl.obolibrary.org/obo/NCBITaxon_2	Bacteria		
http://purl.obolibrary.org/obo/NCBITaxon_3379134	Pseudomonadati	http://purl.obolibrary.org/obo/NCBITaxon_2	Bacteria		
http://purl.obolibrary.org/obo/NCBITaxon_172148	Alkhumra hemorrhagic fever virus	http://purl.obolibrary.org/obo/NCBITaxon_33743	Kyasanur Forest disease virus		
http://purl.obolibrary.org/obo/NCBITaxon_34620	Dermacentor andersoni	http://purl.obolibrary.org/obo/NCBITaxon_34619	Dermacentor		
http://purl.obolibrary.org/obo/NCBITaxon_34621	Dermacentor variabilis	http://purl.obolibrary.org/obo/NCBITaxon_34619	Dermacentor		
http://purl.obolibrary.org/obo/NCBITaxon_49202	Dermacentor marginatus	http://purl.obolibrary.org/obo/NCBITaxon_34619	Dermacentor		
http://purl.obolibrary.org/obo/NCBITaxon_451864	Dikarya	http://purl.obolibrary.org/obo/NCBITaxon_4751	Fungi		
http://purl.obolibrary.org/obo/NCBITaxon_112252	Fungi incertae sedis	http://purl.obolibrary.org/obo/NCBITaxon_4751	Fungi		
http://purl.obolibrary.org/obo/NCBITaxon_451866	Taphrinomycotina	http://purl.obolibrary.org/obo/NCBITaxon_4890	Ascomycota		
http://purl.obolibrary.org/obo/NCBITaxon_716545	saccharomyceta	http://purl.obolibrary.org/obo/NCBITaxon_4890	Ascomycota		
http://purl.obolibrary.org/obo/NCBITaxon_2036922	Cladosporium cf. cladosporoides	http://purl.obolibrary.org/obo/NCBITaxon_5498	Cladosporium		
http://purl.obolibrary.org/obo/NCBITaxon_523103	Trichophyton mentagrophytes	http://purl.obolibrary.org/obo/NCBITaxon_5550	Trichophyton		
http://purl.obolibrary.org/obo/NCBITaxon_63417	Trichophyton verrucosum	http://purl.obolibrary.org/obo/NCBITaxon_5550	Trichophyton		
http://purl.obolibrary.org/obo/NCBITaxon_63418	Trichophyton equinum	http://purl.obolibrary.org/obo/NCBITaxon_5550	Trichophyton		
http://purl.obolibrary.org/obo/NCBITaxon_63419	Trichophyton concentricum	http://purl.obolibrary.org/obo/NCBITaxon_5550	Trichophyton		
http://purl.obolibrary.org/obo/NCBITaxon_5553	Trichosporon beigelii	http://purl.obolibrary.org/obo/NCBITaxon_5552	Trichosporon		
http://purl.obolibrary.org/obo/NCBITaxon_418103	Plasmodium (Plasmodium)	http://purl.obolibrary.org/obo/NCBITaxon_5820	Plasmodium		
http://purl.obolibrary.org/obo/NCBITaxon_418107	Plasmodium (Laverania)	http://purl.obolibrary.org/obo/NCBITaxon_5820	Plasmodium		
http://purl.obolibrary.org/obo/NCBITaxon_29930	Ixodes pacificus	http://purl.obolibrary.org/obo/NCBITaxon_6944	Ixodes		
http://purl.obolibrary.org/obo/NCBITaxon_34613	Ixodes ricinus	http://purl.obolibrary.org/obo/NCBITaxon_6944	Ixodes		
http://purl.obolibrary.org/obo/NCBITaxon_65647	Ixodes holocyclus	http://purl.obolibrary.org/obo/NCBITaxon_6944	Ixodes		
http://purl.obolibrary.org/obo/NCBITaxon_6945	Ixodes scapularis	http://purl.obolibrary.org/obo/NCBITaxon_6944	Ixodes		
http://purl.obolibrary.org/obo/NCBITaxon_34615	Ixodes persulcatus	http://purl.obolibrary.org/obo/NCBITaxon_6944	Ixodes		
http://purl.obolibrary.org/obo/NCBITaxon_53542	Finlaya	http://purl.obolibrary.org/obo/NCBITaxon_7158	Aedes <genus>		
http://purl.obolibrary.org/obo/NCBITaxon_53541	Stegomyia	http://purl.obolibrary.org/obo/NCBITaxon_7158	Aedes <genus>		
http://purl.obolibrary.org/obo/NCBITaxon_53527	Culex <subgenus>	http://purl.obolibrary.org/obo/NCBITaxon_7174	Culex <genus>		
http://purl.obolibrary.org/obo/NCBITaxon_114277	spotted fever group	http://purl.obolibrary.org/obo/NCBITaxon_780	Rickettsia		
http://purl.obolibrary.org/obo/NCBITaxon_114292	typhus group	http://purl.obolibrary.org/obo/NCBITaxon_780	Rickettsia		
http://purl.obolibrary.org/obo/NCBITaxon_226665	Rickettsia conorii subsp. heilongjiangensis	http://purl.obolibrary.org/obo/NCBITaxon_781	Rickettsia conorii		
http://purl.obolibrary.org/obo/UBERON_0001085	skin of trunk	http://purl.obolibrary.org/obo/UBERON_0000014	zone of skin		
http://purl.obolibrary.org/obo/UBERON_0001415	skin of pelvis	http://purl.obolibrary.org/obo/UBERON_0003836	abdominal segment skin		
http://purl.obolibrary.org/obo/UBERON_0003836	abdominal segment skin	http://purl.obolibrary.org/obo/UBERON_0001085	skin of trunk		
http://purl.obolibrary.org/obo/UBERON_0015474	axilla skin	http://purl.obolibrary.org/obo/UBERON_8480025	skin of clavicle region		
http://purl.obolibrary.org/obo/UBERON_8410021	inguinal region skin	http://purl.obolibrary.org/obo/UBERON_0003836	abdominal segment skin		
http://purl.obolibrary.org/obo/UBERON_8480025	skin of clavicle region	http://purl.obolibrary.org/obo/UBERON_0000014	zone of skin		
http://purl.obolibrary.org/obo/UBERON_8480029	skin of external genitalia	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0000970	eye	http://purl.obolibrary.org/obo/UBERON_0000020	sense organ		
http://purl.obolibrary.org/obo/UBERON_0001723	tongue	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0001690	ear	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0002268	olfactory organ	http://purl.obolibrary.org/obo/UBERON_0000020	sense organ		
http://purl.obolibrary.org/obo/UBERON_0010230	eyeball of camera-type eye	http://purl.obolibrary.org/obo/UBERON_0000020	sense organ		
http://purl.obolibrary.org/obo/UBERON_0000990	reproductive system	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0001004	respiratory system	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0001016	nervous system	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0001750	lacrimal apparatus	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0002204	musculoskeletal system	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0002330	exocrine system	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0002416	integumental system	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0004535	cardiovascular system	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0005409	alimentary part of gastrointestinal system	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0004122	genitourinary system	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_8450002	excretory system	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0007037	mechanosensory system	http://purl.obolibrary.org/obo/UBERON_0001032	sensory system		
http://purl.obolibrary.org/obo/UBERON_0001829	major salivary gland	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0012102	buccal salivary gland	http://purl.obolibrary.org/obo/UBERON_0001044	saliva-secreting gland		
http://purl.obolibrary.org/obo/UBERON_0001184	renal artery	http://purl.obolibrary.org/obo/UBERON_0012254	abdominal aorta artery		
http://purl.obolibrary.org/obo/UBERON_0002012	pulmonary artery	http://purl.obolibrary.org/obo/UBERON_0013768	great vessel of heart		
http://purl.obolibrary.org/obo/UBERON_2005036	supraintestinal artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0035307	branch of vertebral artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0001194	splenic artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0001620	central retinal artery	http://purl.obolibrary.org/obo/UBERON_0003501	retina blood vessel		
http://purl.obolibrary.org/obo/UBERON_0002458	spinal artery	http://purl.obolibrary.org/obo/UBERON_0004573	systemic artery		
http://purl.obolibrary.org/obo/UBERON_0003469	respiratory system artery	http://purl.obolibrary.org/obo/UBERON_0003643	respiratory system arterial blood vessel		
http://purl.obolibrary.org/obo/UBERON_0004449	cerebral artery	http://purl.obolibrary.org/obo/UBERON_0004573	systemic artery		
http://purl.obolibrary.org/obo/UBERON_0004573	systemic artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0005616	mesenteric artery	http://purl.obolibrary.org/obo/UBERON_0012254	abdominal aorta artery		
http://purl.obolibrary.org/obo/UBERON_0012254	abdominal aorta artery	http://purl.obolibrary.org/obo/UBERON_0004573	systemic artery		
http://purl.obolibrary.org/obo/UBERON_0001724	sphenoidal sinus	http://purl.obolibrary.org/obo/UBERON_0001825	paranasal sinus		
http://purl.obolibrary.org/obo/UBERON_0001760	frontal sinus	http://purl.obolibrary.org/obo/UBERON_0001825	paranasal sinus		
http://purl.obolibrary.org/obo/UBERON_0001764	maxillary sinus	http://purl.obolibrary.org/obo/UBERON_0001825	paranasal sinus		
http://purl.obolibrary.org/obo/UBERON_0002453	ethmoid sinus	http://purl.obolibrary.org/obo/UBERON_0001825	paranasal sinus		
http://purl.obolibrary.org/obo/UBERON_0002372	tonsil	http://purl.obolibrary.org/obo/UBERON_0001962	gut-associated lymphoid tissue		
http://purl.obolibrary.org/obo/UBERON_0001962	gut-associated lymphoid tissue	http://purl.obolibrary.org/obo/UBERON_0001961	mucosa-associated lymphoid tissue		
http://purl.obolibrary.org/obo/UBERON_0012330	nasal-associated lymphoid tissue	http://purl.obolibrary.org/obo/UBERON_0001962	gut-associated lymphoid tissue		
http://purl.obolibrary.org/obo/UBERON_0000007	pituitary gland	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0001132	parathyroid gland	http://purl.obolibrary.org/obo/UBERON_0002368	endocrine gland		
http://purl.obolibrary.org/obo/UBERON_0002046	thyroid gland	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0002370	thymus	http://purl.obolibrary.org/obo/UBERON_0005058	hemolymphoid system gland		
http://purl.obolibrary.org/obo/UBERON_0006858	adrenal/interrenal gland	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0006925	digestive system gland	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0010133	neuroendocrine gland	http://purl.obolibrary.org/obo/UBERON_0002368	endocrine gland		
http://purl.obolibrary.org/obo/UBERON_0000114	lung connective tissue	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0001013	adipose tissue	http://purl.obolibrary.org/obo/UBERON_0011822	dense irregular connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003570	respiratory system connective tissue	http://purl.obolibrary.org/obo/UBERON_0002384	connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003580	lower respiratory tract connective tissue	http://purl.obolibrary.org/obo/UBERON_0003570	respiratory system connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003586	trunk connective tissue	http://purl.obolibrary.org/obo/UBERON_0002384	connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003837	thoracic segment connective tissue	http://purl.obolibrary.org/obo/UBERON_0003586	trunk connective tissue		
http://purl.obolibrary.org/obo/UBERON_0004755	skeletal tissue	http://purl.obolibrary.org/obo/UBERON_0002384	connective tissue		
http://purl.obolibrary.org/obo/UBERON_0011821	irregular connective tissue	http://purl.obolibrary.org/obo/UBERON_0002384	connective tissue		
http://purl.obolibrary.org/obo/UBERON_0011823	dense connective tissue	http://purl.obolibrary.org/obo/UBERON_0002384	connective tissue		
http://purl.obolibrary.org/obo/UBERON_0019231	manual digit 1 or 5	http://purl.obolibrary.org/obo/UBERON_0019221	digit 1 or 5		
http://purl.obolibrary.org/obo/UBERON_0003703	extrahepatic bile duct	http://purl.obolibrary.org/obo/UBERON_0002394	bile duct		
http://purl.obolibrary.org/obo/UBERON_0004913	hepatopancreatic ampulla	http://purl.obolibrary.org/obo/UBERON_0000058	duct		
http://purl.obolibrary.org/obo/UBERON_0003134	female reproductive organ	http://purl.obolibrary.org/obo/UBERON_0003133	reproductive organ		
http://purl.obolibrary.org/obo/UBERON_0003135	male reproductive organ	http://purl.obolibrary.org/obo/UBERON_0003133	reproductive organ		
http://purl.obolibrary.org/obo/UBERON_0008811	intromittent organ	http://purl.obolibrary.org/obo/UBERON_0003135	male reproductive organ		
http://purl.obolibrary.org/obo/UBERON_0000029	lymph node	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0002106	spleen	http://purl.obolibrary.org/obo/UBERON_0017672	abdominal viscera		
http://purl.obolibrary.org/obo/UBERON_0001385	tibialis anterior	http://purl.obolibrary.org/obo/UBERON_0008230	tibialis		
http://purl.obolibrary.org/obo/UBERON_8440011	cortical visual area	http://purl.obolibrary.org/obo/UBERON_0035014	functional part of brain		
http://purl.obolibrary.org/obo/UBERON_0001299	glans penis	http://purl.obolibrary.org/obo/UBERON_0035651	glans		
http://purl.obolibrary.org/obo/NCBITaxon_33278	Ancylostomatidae	http://purl.obolibrary.org/obo/NCBITaxon_27829	Strongyloidea		
http://purl.obolibrary.org/obo/NCBITaxon_55271	Metastrongylidae	http://purl.obolibrary.org/obo/NCBITaxon_27829	Strongyloidea		
http://purl.obolibrary.org/obo/NCBITaxon_119095	Capillaria	http://purl.obolibrary.org/obo/NCBITaxon_455381	Capillariidae		
http://purl.obolibrary.org/obo/NCBITaxon_51031	Necator americanus	http://purl.obolibrary.org/obo/NCBITaxon_51030	Necator		
http://purl.obolibrary.org/obo/NCBITaxon_6248	Strongyloides stercoralis	http://purl.obolibrary.org/obo/NCBITaxon_6247	Strongyloides		
http://purl.obolibrary.org/obo/NCBITaxon_1535325	Candida/Lodderomyces clade	http://purl.obolibrary.org/obo/NCBITaxon_766764	Debaryomycetaceae		
http://purl.obolibrary.org/obo/NCBITaxon_3981	Hevea brasiliensis	http://purl.obolibrary.org/obo/NCBITaxon_3980	Hevea		
http://purl.obolibrary.org/obo/NCBITaxon_55194	Malassezia furfur	http://purl.obolibrary.org/obo/NCBITaxon_55193	Malassezia		
http://purl.obolibrary.org/obo/NCBITaxon_6247	Strongyloides	http://purl.obolibrary.org/obo/NCBITaxon_6246	Strongyloididae		
http://purl.obolibrary.org/obo/NCBITaxon_162474	Malasseziales	http://purl.obolibrary.org/obo/NCBITaxon_1538075	Malasseziomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_204428	Chlamydiota	http://purl.obolibrary.org/obo/NCBITaxon_1783257	PVC group		
http://purl.obolibrary.org/obo/NCBITaxon_79922	Clonorchis	http://purl.obolibrary.org/obo/NCBITaxon_6196	Opisthorchiidae		
http://purl.obolibrary.org/obo/NCBITaxon_6264	Toxocara	http://purl.obolibrary.org/obo/NCBITaxon_33259	Toxocaridae		
http://purl.obolibrary.org/obo/NCBITaxon_53477	Bunostominae	http://purl.obolibrary.org/obo/NCBITaxon_33278	Ancylostomatidae		
http://purl.obolibrary.org/obo/NCBITaxon_51030	Necator	http://purl.obolibrary.org/obo/NCBITaxon_53477	Bunostominae		
http://purl.obolibrary.org/obo/HP_0031481	Abnormal mitral valve physiology	http://purl.obolibrary.org/obo/HP_0031650	Abnormal atrioventricular valve physiology		
http://purl.obolibrary.org/obo/HP_0031650	Abnormal atrioventricular valve physiology	http://purl.obolibrary.org/obo/HP_0031653	Abnormal heart valve physiology		
http://purl.obolibrary.org/obo/HP_0031652	Abnormal aortic valve physiology	http://purl.obolibrary.org/obo/HP_0031653	Abnormal heart valve physiology		
http://purl.obolibrary.org/obo/NCBITaxon_11157	Mononegavirales	http://purl.obolibrary.org/obo/NCBITaxon_2497574	Monjiviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_11308	Orthomyxoviridae	http://purl.obolibrary.org/obo/NCBITaxon_2499411	Articulavirales		
http://purl.obolibrary.org/obo/NCBITaxon_11229	Morbillivirus	http://purl.obolibrary.org/obo/NCBITaxon_2560076	Orthoparamyxovirinae		
http://purl.obolibrary.org/obo/NCBITaxon_260964	Henipavirus	http://purl.obolibrary.org/obo/NCBITaxon_2560076	Orthoparamyxovirinae		
http://purl.obolibrary.org/obo/NCBITaxon_3433633	Betacoronavirus cameli	http://purl.obolibrary.org/obo/NCBITaxon_2509494	Merbecovirus		
http://purl.obolibrary.org/obo/NCBITaxon_555406	Archamoebae	http://purl.obolibrary.org/obo/NCBITaxon_2605435	Evosea		
http://purl.obolibrary.org/obo/NCBITaxon_2497570	Haploviricotina	http://purl.obolibrary.org/obo/NCBITaxon_2497569	Negarnaviricota		
http://purl.obolibrary.org/obo/NCBITaxon_2497571	Polyploviricotina	http://purl.obolibrary.org/obo/NCBITaxon_2497569	Negarnaviricota		
http://purl.obolibrary.org/obo/NCBITaxon_2497574	Monjiviricetes	http://purl.obolibrary.org/obo/NCBITaxon_2497570	Haploviricotina		
http://purl.obolibrary.org/obo/NCBITaxon_2497577	Insthoviricetes	http://purl.obolibrary.org/obo/NCBITaxon_2497571	Polyploviricotina		
http://purl.obolibrary.org/obo/NCBITaxon_3151693	Bunyaviricetes	http://purl.obolibrary.org/obo/NCBITaxon_2497571	Polyploviricotina		
http://purl.obolibrary.org/obo/NCBITaxon_2499411	Articulavirales	http://purl.obolibrary.org/obo/NCBITaxon_2497577	Insthoviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_3418604	Betacoronavirus pandemicum	http://purl.obolibrary.org/obo/NCBITaxon_2509511	Sarbecovirus		
http://purl.obolibrary.org/obo/HP_0025745	Abnormal urine amino acid level	http://purl.obolibrary.org/obo/HP_0033354	Abnormal urine metabolite level		
http://purl.obolibrary.org/obo/NCBITaxon_3151839	Hareavirales	http://purl.obolibrary.org/obo/NCBITaxon_3151693	Bunyaviricetes		
http://purl.obolibrary.org/obo/CHEBI_83822	non-proteinogenic L-alpha-amino acid	http://purl.obolibrary.org/obo/CHEBI_83925	non-proteinogenic alpha-amino acid		
http://purl.obolibrary.org/obo/CHEBI_76224	aromatic ketone	http://purl.obolibrary.org/obo/CHEBI_17087	ketone		
http://purl.obolibrary.org/obo/CHEBI_102166	thiopental	http://purl.obolibrary.org/obo/CHEBI_22693	barbiturates		
http://purl.obolibrary.org/obo/CHEBI_8069	phenobarbital	http://purl.obolibrary.org/obo/CHEBI_22693	barbiturates		
http://purl.obolibrary.org/obo/CHEBI_22723	benzoic acids	http://purl.obolibrary.org/obo/CHEBI_33859	aromatic carboxylic acid		
http://purl.obolibrary.org/obo/CHEBI_51683	methoxybenzenes	http://purl.obolibrary.org/obo/CHEBI_35618	aromatic ether		
http://purl.obolibrary.org/obo/CHEBI_35871	oxo monocarboxylic acid	http://purl.obolibrary.org/obo/CHEBI_25754	oxo carboxylic acid		
http://purl.obolibrary.org/obo/CHEBI_79020	alpha,beta-unsaturated monocarboxylic acid	http://purl.obolibrary.org/obo/CHEBI_25384	monocarboxylic acid		
http://purl.obolibrary.org/obo/CHEBI_9334	sulfasalazine	http://purl.obolibrary.org/obo/CHEBI_22682	azobenzenes		
http://purl.obolibrary.org/obo/CHEBI_37667	sesquiterpene lactone	http://purl.obolibrary.org/obo/CHEBI_37668	terpene lactone		
http://purl.obolibrary.org/obo/CHEBI_36181	succinate ester	http://purl.obolibrary.org/obo/CHEBI_33308	carboxylic ester		
http://purl.obolibrary.org/obo/CHEBI_25384	monocarboxylic acid	http://purl.obolibrary.org/obo/CHEBI_33575	carboxylic acid		
http://purl.obolibrary.org/obo/CHEBI_25754	oxo carboxylic acid	http://purl.obolibrary.org/obo/CHEBI_33575	carboxylic acid		
http://purl.obolibrary.org/obo/CHEBI_15705	L-alpha-amino acid	http://purl.obolibrary.org/obo/CHEBI_33704	alpha-amino acid		
http://purl.obolibrary.org/obo/CHEBI_38179	monocyclic heteroarene	http://purl.obolibrary.org/obo/CHEBI_33833	heteroarene		
http://purl.obolibrary.org/obo/CHEBI_22712	benzenes	http://purl.obolibrary.org/obo/CHEBI_33836	benzenoid aromatic compound		
http://purl.obolibrary.org/obo/CHEBI_26195	polyphenol	http://purl.obolibrary.org/obo/CHEBI_33853	phenols		
http://purl.obolibrary.org/obo/CHEBI_34444	4-tert-butylphenol	http://purl.obolibrary.org/obo/CHEBI_33853	phenols		
http://purl.obolibrary.org/obo/CHEBI_22315	alkaloid	http://purl.obolibrary.org/obo/CHEBI_35352	organonitrogen compound		
http://purl.obolibrary.org/obo/CHEBI_37622	carboxamide	http://purl.obolibrary.org/obo/CHEBI_33256	primary amide		
http://purl.obolibrary.org/obo/CHEBI_83821	amino-acid derivative	http://purl.obolibrary.org/obo/CHEBI_35352	organonitrogen compound		
http://purl.obolibrary.org/obo/CHEBI_24436	guanidines	http://purl.obolibrary.org/obo/CHEBI_35352	organonitrogen compound		
http://purl.obolibrary.org/obo/CHEBI_87228	sulfonamide antibiotic	http://purl.obolibrary.org/obo/CHEBI_35358	sulfonamide		
http://purl.obolibrary.org/obo/CHEBI_9332	sulfamethoxazole	http://purl.obolibrary.org/obo/CHEBI_87228	sulfonamide antibiotic		
http://purl.obolibrary.org/obo/CHEBI_17087	ketone	http://purl.obolibrary.org/obo/CHEBI_36586	carbonyl compound		
http://purl.obolibrary.org/obo/CHEBI_33308	carboxylic ester	http://purl.obolibrary.org/obo/CHEBI_35701	ester		
http://purl.obolibrary.org/obo/CHEBI_33575	carboxylic acid	http://purl.obolibrary.org/obo/CHEBI_35605	carbon oxoacid		
http://purl.obolibrary.org/obo/CHEBI_17478	aldehyde	http://purl.obolibrary.org/obo/CHEBI_36586	carbonyl compound		
http://purl.obolibrary.org/obo/CHEBI_35873	carboxylic anhydride	http://purl.obolibrary.org/obo/CHEBI_36606	acid anhydride		
http://purl.obolibrary.org/obo/CHEBI_35701	ester	http://purl.obolibrary.org/obo/CHEBI_36963	organooxygen compound		
http://purl.obolibrary.org/obo/CHEBI_78616	carbohydrates and carbohydrate derivatives	http://purl.obolibrary.org/obo/CHEBI_36963	organooxygen compound		
http://purl.obolibrary.org/obo/CHEBI_26596	salicylates	http://purl.obolibrary.org/obo/CHEBI_36963	organooxygen compound		
http://purl.obolibrary.org/obo/CHEBI_29347	monocarboxylic acid amide	http://purl.obolibrary.org/obo/CHEBI_37622	carboxamide		
http://purl.obolibrary.org/obo/CHEBI_38337	pyrimidone	http://purl.obolibrary.org/obo/CHEBI_39447	pyrimidines		
http://purl.obolibrary.org/obo/CHEBI_38418	1,3-thiazoles	http://purl.obolibrary.org/obo/CHEBI_48901	thiazoles		
http://purl.obolibrary.org/obo/CHEBI_78840	olefinic compound	http://purl.obolibrary.org/obo/CHEBI_50860	organic molecular entity		
http://purl.obolibrary.org/obo/CHEBI_72588	semisynthetic derivative	http://purl.obolibrary.org/obo/CHEBI_50860	organic molecular entity		
http://purl.obolibrary.org/obo/CHEBI_64709	organic acid	http://purl.obolibrary.org/obo/CHEBI_50860	organic molecular entity		
http://purl.obolibrary.org/obo/CHEBI_36606	acid anhydride	http://purl.obolibrary.org/obo/CHEBI_50860	organic molecular entity		
http://purl.obolibrary.org/obo/CHEBI_51069	organic halide salt	http://purl.obolibrary.org/obo/CHEBI_24868	organic salt		
http://purl.obolibrary.org/obo/CHEBI_128458	disodium cromoglycate	http://purl.obolibrary.org/obo/CHEBI_38700	organic sodium salt		
http://purl.obolibrary.org/obo/CHEBI_53767	chloramine T	http://purl.obolibrary.org/obo/CHEBI_38700	organic sodium salt		
http://purl.obolibrary.org/obo/CHEBI_24583	hexitol	http://purl.obolibrary.org/obo/CHEBI_17522	alditol		
http://purl.obolibrary.org/obo/CHEBI_47857	ureas	http://purl.obolibrary.org/obo/CHEBI_33256	primary amide		
http://purl.obolibrary.org/obo/CHEBI_48369	organic bromide salt	http://purl.obolibrary.org/obo/CHEBI_51069	organic halide salt		
http://purl.obolibrary.org/obo/CHEBI_26822	sulfide	http://purl.obolibrary.org/obo/CHEBI_26835	sulfur molecular entity		
http://purl.obolibrary.org/obo/CHEBI_33424	sulfur oxoacid derivative	http://purl.obolibrary.org/obo/CHEBI_33241	oxoacid derivative		
http://purl.obolibrary.org/obo/CHEBI_25985	phenylalanine derivative	http://purl.obolibrary.org/obo/CHEBI_83821	amino-acid derivative		
http://purl.obolibrary.org/obo/CHEBI_33363	palladium	http://purl.obolibrary.org/obo/CHEBI_88184	metal allergen		
http://purl.obolibrary.org/obo/CHEBI_3614	chlorhexidine	http://purl.obolibrary.org/obo/CHEBI_83403	monochlorobenzenes		
http://purl.obolibrary.org/obo/CHEBI_33350	chromium group element atom	http://purl.obolibrary.org/obo/CHEBI_27081	transition element atom		
http://purl.obolibrary.org/obo/CHEBI_33358	cobalt group element atom	http://purl.obolibrary.org/obo/CHEBI_27081	transition element atom		
http://purl.obolibrary.org/obo/CHEBI_33362	nickel group element atom	http://purl.obolibrary.org/obo/CHEBI_27081	transition element atom		
http://purl.obolibrary.org/obo/CHEBI_33674	s-block molecular entity	http://purl.obolibrary.org/obo/CHEBI_33579	main group molecular entity		
http://purl.obolibrary.org/obo/CHEBI_138675	gas molecular entity	http://purl.obolibrary.org/obo/CHEBI_33579	main group molecular entity		
http://purl.obolibrary.org/obo/CHEBI_33655	aromatic compound	http://purl.obolibrary.org/obo/CHEBI_33595	cyclic compound		
http://purl.obolibrary.org/obo/CHEBI_33597	homocyclic compound	http://purl.obolibrary.org/obo/CHEBI_33595	cyclic compound		
http://purl.obolibrary.org/obo/CHEBI_33635	polycyclic compound	http://purl.obolibrary.org/obo/CHEBI_33595	cyclic compound		
http://purl.obolibrary.org/obo/CHEBI_33636	bicyclic compound	http://purl.obolibrary.org/obo/CHEBI_33595	cyclic compound		
http://purl.obolibrary.org/obo/CHEBI_33661	monocyclic compound	http://purl.obolibrary.org/obo/CHEBI_33595	cyclic compound		
http://purl.obolibrary.org/obo/CHEBI_36688	heterotricyclic compound	http://purl.obolibrary.org/obo/CHEBI_33671	heteropolycyclic compound		
http://purl.obolibrary.org/obo/CHEBI_37175	organic hydride	http://purl.obolibrary.org/obo/CHEBI_33692	hydrides		
http://purl.obolibrary.org/obo/CHEBI_51403	1,4-phenylenediamine	http://purl.obolibrary.org/obo/CHEBI_51402	phenylenediamine		
http://purl.obolibrary.org/obo/CHEBI_53555	toluene meta-diisocyanate	http://purl.obolibrary.org/obo/CHEBI_53213	diisocyanate		
http://purl.obolibrary.org/obo/CHEBI_53578	hexamethylene diisocyanate	http://purl.obolibrary.org/obo/CHEBI_53213	diisocyanate		
http://purl.obolibrary.org/obo/HP_0011001	Increased bone mineral density	http://purl.obolibrary.org/obo/HP_0004348	Abnormality of bone mineral density		
http://purl.obolibrary.org/obo/HP_0005339	Abnormality of complement system	http://purl.obolibrary.org/obo/HP_0005368	Abnormality of humoral immunity		
http://purl.obolibrary.org/obo/HP_0009815	Aplasia/hypoplasia of the extremities	http://purl.obolibrary.org/obo/HP_0040064	Abnormality of limbs		
http://purl.obolibrary.org/obo/HP_0010884	Acromelia	http://purl.obolibrary.org/obo/HP_0009815	Aplasia/hypoplasia of the extremities		
http://purl.obolibrary.org/obo/HP_0010957	Congenital posterior urethral valve	http://purl.obolibrary.org/obo/HP_0034378	Urethrovesical occlusion		
http://purl.obolibrary.org/obo/HP_0000272	Malar flattening	http://purl.obolibrary.org/obo/HP_0010668	Abnormal zygomatic bone morphology		
http://purl.obolibrary.org/obo/HP_0004313	Decreased circulating immunoglobulin concentration	http://purl.obolibrary.org/obo/HP_0010701	Abnormal circulating immunoglobulin concentration		
http://purl.obolibrary.org/obo/HP_0011129	Bilateral fetal pyelectasis	http://purl.obolibrary.org/obo/HP_0010945	Fetal pyelectasis		
http://purl.obolibrary.org/obo/HP_0012649	Increased inflammatory response	http://purl.obolibrary.org/obo/HP_0012647	Abnormal inflammatory response		
http://purl.obolibrary.org/obo/HP_0100034	Motor tics	http://purl.obolibrary.org/obo/HP_0100033	Tics		
http://purl.obolibrary.org/obo/HP_0100035	Phonic tics	http://purl.obolibrary.org/obo/HP_4000074	Involuntary vocalization		
http://purl.obolibrary.org/obo/HP_0004340	Abnormality of vitamin B metabolism	http://purl.obolibrary.org/obo/HP_0100508	Abnormality of vitamin metabolism		
http://purl.obolibrary.org/obo/NCBITaxon_131567	cellular organisms	http://purl.obolibrary.org/obo/NCBITaxon_1	ncbitaxon		
http://purl.obolibrary.org/obo/NCBITaxon_2787823	unclassified entries	http://purl.obolibrary.org/obo/NCBITaxon_1	ncbitaxon		
http://purl.obolibrary.org/obo/NCBITaxon_3655	Cucumis	http://purl.obolibrary.org/obo/NCBITaxon_1003877	Benincaseae		
http://purl.obolibrary.org/obo/NCBITaxon_39107	Murinae	http://purl.obolibrary.org/obo/NCBITaxon_10066	Muridae		
http://purl.obolibrary.org/obo/NCBITaxon_862507	Mus <subgenus>	http://purl.obolibrary.org/obo/NCBITaxon_10088	Mus <genus>		
http://purl.obolibrary.org/obo/NCBITaxon_10116	Rattus norvegicus	http://purl.obolibrary.org/obo/NCBITaxon_10114	Rattus		
http://purl.obolibrary.org/obo/NCBITaxon_39030	Apodemus agrarius	http://purl.obolibrary.org/obo/NCBITaxon_10128	Apodemus		
http://purl.obolibrary.org/obo/NCBITaxon_400053	Sylvaemus group	http://purl.obolibrary.org/obo/NCBITaxon_10128	Apodemus		
http://purl.obolibrary.org/obo/NCBITaxon_10241	Chordopoxvirinae	http://purl.obolibrary.org/obo/NCBITaxon_10240	Poxviridae		
http://purl.obolibrary.org/obo/NCBITaxon_10242	Orthopoxvirus	http://purl.obolibrary.org/obo/NCBITaxon_10241	Chordopoxvirinae		
http://purl.obolibrary.org/obo/NCBITaxon_10257	Parapoxvirus	http://purl.obolibrary.org/obo/NCBITaxon_10241	Chordopoxvirinae		
http://purl.obolibrary.org/obo/NCBITaxon_10278	Molluscipoxvirus	http://purl.obolibrary.org/obo/NCBITaxon_10241	Chordopoxvirinae		
http://purl.obolibrary.org/obo/NCBITaxon_3431481	Orthopoxvirus cowpox	http://purl.obolibrary.org/obo/NCBITaxon_10242	Orthopoxvirus		
http://purl.obolibrary.org/obo/NCBITaxon_3431483	Orthopoxvirus monkeypox	http://purl.obolibrary.org/obo/NCBITaxon_10242	Orthopoxvirus		
http://purl.obolibrary.org/obo/NCBITaxon_3431487	Orthopoxvirus variola	http://purl.obolibrary.org/obo/NCBITaxon_10242	Orthopoxvirus		
http://purl.obolibrary.org/obo/NCBITaxon_3431390	Parapoxvirus pseudocowpox	http://purl.obolibrary.org/obo/NCBITaxon_10257	Parapoxvirus		
http://purl.obolibrary.org/obo/NCBITaxon_3431389	Parapoxvirus orf	http://purl.obolibrary.org/obo/NCBITaxon_10257	Parapoxvirus		
http://purl.obolibrary.org/obo/NCBITaxon_3430922	Molluscipoxvirus molluscum	http://purl.obolibrary.org/obo/NCBITaxon_10278	Molluscipoxvirus		
http://purl.obolibrary.org/obo/NCBITaxon_10294	Simplexvirus	http://purl.obolibrary.org/obo/NCBITaxon_10293	Alphaherpesvirinae		
http://purl.obolibrary.org/obo/NCBITaxon_10319	Varicellovirus	http://purl.obolibrary.org/obo/NCBITaxon_10293	Alphaherpesvirinae		
http://purl.obolibrary.org/obo/NCBITaxon_3050292	Simplexvirus humanalpha1	http://purl.obolibrary.org/obo/NCBITaxon_10294	Simplexvirus		
http://purl.obolibrary.org/obo/NCBITaxon_3050293	Simplexvirus humanalpha2	http://purl.obolibrary.org/obo/NCBITaxon_10294	Simplexvirus		
http://purl.obolibrary.org/obo/NCBITaxon_3050294	Varicellovirus humanalpha3	http://purl.obolibrary.org/obo/NCBITaxon_10319	Varicellovirus		
http://purl.obolibrary.org/obo/NCBITaxon_40272	Roseolovirus	http://purl.obolibrary.org/obo/NCBITaxon_10357	Betaherpesvirinae		
http://purl.obolibrary.org/obo/NCBITaxon_10358	Cytomegalovirus	http://purl.obolibrary.org/obo/NCBITaxon_10357	Betaherpesvirinae		
http://purl.obolibrary.org/obo/NCBITaxon_10375	Lymphocryptovirus	http://purl.obolibrary.org/obo/NCBITaxon_10374	Gammaherpesvirinae		
http://purl.obolibrary.org/obo/NCBITaxon_10379	Rhadinovirus	http://purl.obolibrary.org/obo/NCBITaxon_10374	Gammaherpesvirinae		
http://purl.obolibrary.org/obo/NCBITaxon_3050299	Lymphocryptovirus humangamma4	http://purl.obolibrary.org/obo/NCBITaxon_10375	Lymphocryptovirus		
http://purl.obolibrary.org/obo/NCBITaxon_3050300	Rhadinovirus humangamma8	http://purl.obolibrary.org/obo/NCBITaxon_10379	Rhadinovirus		
http://purl.obolibrary.org/obo/NCBITaxon_10405	Orthohepadnavirus	http://purl.obolibrary.org/obo/NCBITaxon_10404	Hepadnaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_3431302	Orthohepadnavirus hominoidei	http://purl.obolibrary.org/obo/NCBITaxon_10405	Orthohepadnavirus		
http://purl.obolibrary.org/obo/NCBITaxon_10509	Mastadenovirus	http://purl.obolibrary.org/obo/NCBITaxon_10508	Adenoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_3241406	Mastadenovirus blackbeardi	http://purl.obolibrary.org/obo/NCBITaxon_10509	Mastadenovirus		
http://purl.obolibrary.org/obo/NCBITaxon_7158	Aedes <genus>	http://purl.obolibrary.org/obo/NCBITaxon_1056966	Aedini		
http://purl.obolibrary.org/obo/NCBITaxon_190765	Ochlerotatus <genus>	http://purl.obolibrary.org/obo/NCBITaxon_1056966	Aedini		
http://purl.obolibrary.org/obo/NCBITaxon_945	Ehrlichia chaffeensis	http://purl.obolibrary.org/obo/NCBITaxon_106178	canis group		
http://purl.obolibrary.org/obo/NCBITaxon_951	Ehrlichia sennetsu	http://purl.obolibrary.org/obo/NCBITaxon_106178	canis group		
http://purl.obolibrary.org/obo/NCBITaxon_948	Anaplasma phagocytophilum	http://purl.obolibrary.org/obo/NCBITaxon_106179	phagocytophilum group		
http://purl.obolibrary.org/obo/NCBITaxon_40119	Parvovirinae	http://purl.obolibrary.org/obo/NCBITaxon_10780	Parvoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_10519	Human adenovirus 7	http://purl.obolibrary.org/obo/NCBITaxon_108098	Human mastadenovirus B		
http://purl.obolibrary.org/obo/NCBITaxon_45659	Human adenovirus B3	http://purl.obolibrary.org/obo/NCBITaxon_108098	Human mastadenovirus B		
http://purl.obolibrary.org/obo/NCBITaxon_3428066	Coltivirus dermacentoris	http://purl.obolibrary.org/obo/NCBITaxon_10911	Coltivirus		
http://purl.obolibrary.org/obo/NCBITaxon_11019	Alphavirus	http://purl.obolibrary.org/obo/NCBITaxon_11018	Togaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_3426294	Alphavirus barmah	http://purl.obolibrary.org/obo/NCBITaxon_11019	Alphavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3426299	Alphavirus eastern	http://purl.obolibrary.org/obo/NCBITaxon_11019	Alphavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3426314	Alphavirus rossriver	http://purl.obolibrary.org/obo/NCBITaxon_11019	Alphavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3426322	Alphavirus venezuelan	http://purl.obolibrary.org/obo/NCBITaxon_11019	Alphavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3426323	Alphavirus western	http://purl.obolibrary.org/obo/NCBITaxon_11019	Alphavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3426312	Alphavirus onyong	http://purl.obolibrary.org/obo/NCBITaxon_11019	Alphavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3426298	Alphavirus chikungunya	http://purl.obolibrary.org/obo/NCBITaxon_11019	Alphavirus		
http://purl.obolibrary.org/obo/NCBITaxon_2846071	Rubivirus rubellae	http://purl.obolibrary.org/obo/NCBITaxon_11040	Rubivirus		
http://purl.obolibrary.org/obo/NCBITaxon_11102	Hepacivirus	http://purl.obolibrary.org/obo/NCBITaxon_11050	Flaviviridae		
http://purl.obolibrary.org/obo/NCBITaxon_3044782	Orthoflavivirus	http://purl.obolibrary.org/obo/NCBITaxon_11050	Flaviviridae		
http://purl.obolibrary.org/obo/NCBITaxon_3052230	Hepacivirus hominis	http://purl.obolibrary.org/obo/NCBITaxon_11102	Hepacivirus		
http://purl.obolibrary.org/obo/NCBITaxon_2501931	Orthocoronavirinae	http://purl.obolibrary.org/obo/NCBITaxon_11118	Coronaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_810	Chlamydia	http://purl.obolibrary.org/obo/NCBITaxon_1113537	Chlamydia/Chlamydophila group		
http://purl.obolibrary.org/obo/NCBITaxon_6685	Penaeidae	http://purl.obolibrary.org/obo/NCBITaxon_111520	Penaeoidea		
http://purl.obolibrary.org/obo/NCBITaxon_13373	Burkholderia mallei	http://purl.obolibrary.org/obo/NCBITaxon_111527	pseudomallei group		
http://purl.obolibrary.org/obo/NCBITaxon_11158	Paramyxoviridae	http://purl.obolibrary.org/obo/NCBITaxon_11157	Mononegavirales		
http://purl.obolibrary.org/obo/NCBITaxon_11244	Pneumoviridae	http://purl.obolibrary.org/obo/NCBITaxon_11157	Mononegavirales		
http://purl.obolibrary.org/obo/NCBITaxon_11270	Rhabdoviridae	http://purl.obolibrary.org/obo/NCBITaxon_11157	Mononegavirales		
http://purl.obolibrary.org/obo/NCBITaxon_178830	Bornaviridae	http://purl.obolibrary.org/obo/NCBITaxon_11157	Mononegavirales		
http://purl.obolibrary.org/obo/NCBITaxon_1955138	unclassified Mononegavirales	http://purl.obolibrary.org/obo/NCBITaxon_11157	Mononegavirales		
http://purl.obolibrary.org/obo/NCBITaxon_2560076	Orthoparamyxovirinae	http://purl.obolibrary.org/obo/NCBITaxon_11158	Paramyxoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_2560069	Avulavirinae	http://purl.obolibrary.org/obo/NCBITaxon_11158	Paramyxoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_2560080	Rubulavirinae	http://purl.obolibrary.org/obo/NCBITaxon_11158	Paramyxoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_3052345	Morbillivirus hominis	http://purl.obolibrary.org/obo/NCBITaxon_11229	Morbillivirus		
http://purl.obolibrary.org/obo/NCBITaxon_1868215	Orthopneumovirus	http://purl.obolibrary.org/obo/NCBITaxon_11244	Pneumoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_3044781	Orthoebolavirus	http://purl.obolibrary.org/obo/NCBITaxon_11266	Filoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_3044783	Orthomarburgvirus	http://purl.obolibrary.org/obo/NCBITaxon_11266	Filoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_2842407	Alpharhabdovirinae	http://purl.obolibrary.org/obo/NCBITaxon_11270	Rhabdoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_11292	Lyssavirus rabies	http://purl.obolibrary.org/obo/NCBITaxon_11286	Lyssavirus		
http://purl.obolibrary.org/obo/NCBITaxon_34104	Streptobacillus	http://purl.obolibrary.org/obo/NCBITaxon_1129771	Leptotrichiaceae		
http://purl.obolibrary.org/obo/NCBITaxon_35788	Rickettsia africae	http://purl.obolibrary.org/obo/NCBITaxon_114277	spotted fever group		
http://purl.obolibrary.org/obo/NCBITaxon_35789	Rickettsia helvetica	http://purl.obolibrary.org/obo/NCBITaxon_114277	spotted fever group		
http://purl.obolibrary.org/obo/NCBITaxon_35790	Rickettsia japonica	http://purl.obolibrary.org/obo/NCBITaxon_114277	spotted fever group		
http://purl.obolibrary.org/obo/NCBITaxon_35792	Rickettsia parkeri	http://purl.obolibrary.org/obo/NCBITaxon_114277	spotted fever group		
http://purl.obolibrary.org/obo/NCBITaxon_37816	Rickettsia honei	http://purl.obolibrary.org/obo/NCBITaxon_114277	spotted fever group		
http://purl.obolibrary.org/obo/NCBITaxon_42862	Rickettsia felis	http://purl.obolibrary.org/obo/NCBITaxon_114277	spotted fever group		
http://purl.obolibrary.org/obo/NCBITaxon_781	Rickettsia conorii	http://purl.obolibrary.org/obo/NCBITaxon_114277	spotted fever group		
http://purl.obolibrary.org/obo/NCBITaxon_783	Rickettsia rickettsii	http://purl.obolibrary.org/obo/NCBITaxon_114277	spotted fever group		
http://purl.obolibrary.org/obo/NCBITaxon_786	Rickettsia akari	http://purl.obolibrary.org/obo/NCBITaxon_114277	spotted fever group		
http://purl.obolibrary.org/obo/NCBITaxon_787	Rickettsia australis	http://purl.obolibrary.org/obo/NCBITaxon_114277	spotted fever group		
http://purl.obolibrary.org/obo/NCBITaxon_266068	Rickettsia sibirica subgroup	http://purl.obolibrary.org/obo/NCBITaxon_114277	spotted fever group		
http://purl.obolibrary.org/obo/NCBITaxon_782	Rickettsia prowazekii	http://purl.obolibrary.org/obo/NCBITaxon_114292	typhus group		
http://purl.obolibrary.org/obo/NCBITaxon_785	Rickettsia typhi	http://purl.obolibrary.org/obo/NCBITaxon_114292	typhus group		
http://purl.obolibrary.org/obo/NCBITaxon_3052409	Orthobunyavirus lacrosseense	http://purl.obolibrary.org/obo/NCBITaxon_11572	Orthobunyavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052429	Orthobunyavirus oropoucheense	http://purl.obolibrary.org/obo/NCBITaxon_11572	Orthobunyavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052676	Phlebovirus riftense	http://purl.obolibrary.org/obo/NCBITaxon_11584	Phlebovirus		
http://purl.obolibrary.org/obo/NCBITaxon_1653394	Mammarenavirus	http://purl.obolibrary.org/obo/NCBITaxon_11617	Arenaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_327045	Orthoretrovirinae	http://purl.obolibrary.org/obo/NCBITaxon_11632	Retroviridae		
http://purl.obolibrary.org/obo/NCBITaxon_3418650	Lentivirus humimdef1	http://purl.obolibrary.org/obo/NCBITaxon_11646	Lentivirus		
http://purl.obolibrary.org/obo/NCBITaxon_3418651	Lentivirus humimdef2	http://purl.obolibrary.org/obo/NCBITaxon_11646	Lentivirus		
http://purl.obolibrary.org/obo/NCBITaxon_116706	Heterotremata	http://purl.obolibrary.org/obo/NCBITaxon_116704	Eubrachyura		
http://purl.obolibrary.org/obo/NCBITaxon_6774	Portunoidea	http://purl.obolibrary.org/obo/NCBITaxon_116706	Heterotremata		
http://purl.obolibrary.org/obo/NCBITaxon_117571	Euteleostomi	http://purl.obolibrary.org/obo/NCBITaxon_117570	Teleostomi		
http://purl.obolibrary.org/obo/NCBITaxon_7898	Actinopterygii	http://purl.obolibrary.org/obo/NCBITaxon_117571	Euteleostomi		
http://purl.obolibrary.org/obo/NCBITaxon_8287	Sarcopterygii	http://purl.obolibrary.org/obo/NCBITaxon_117571	Euteleostomi		
http://purl.obolibrary.org/obo/NCBITaxon_2826938	Brucella/Ochrobactrum group	http://purl.obolibrary.org/obo/NCBITaxon_118882	Brucellaceae		
http://purl.obolibrary.org/obo/NCBITaxon_776	Coxiella <g-proteobacteria>	http://purl.obolibrary.org/obo/NCBITaxon_118968	Coxiellaceae		
http://purl.obolibrary.org/obo/NCBITaxon_118968	Coxiellaceae	http://purl.obolibrary.org/obo/NCBITaxon_118969	Legionellales		
http://purl.obolibrary.org/obo/NCBITaxon_444	Legionellaceae	http://purl.obolibrary.org/obo/NCBITaxon_118969	Legionellales		
http://purl.obolibrary.org/obo/NCBITaxon_32008	Burkholderia	http://purl.obolibrary.org/obo/NCBITaxon_119060	Burkholderiaceae		
http://purl.obolibrary.org/obo/NCBITaxon_1457286	Dorylaimia	http://purl.obolibrary.org/obo/NCBITaxon_119088	Enoplea		
http://purl.obolibrary.org/obo/NCBITaxon_6236	Rhabditida	http://purl.obolibrary.org/obo/NCBITaxon_119089	Chromadorea		
http://purl.obolibrary.org/obo/NCBITaxon_36086	Trichuris	http://purl.obolibrary.org/obo/NCBITaxon_119093	Trichuridae		
http://purl.obolibrary.org/obo/NCBITaxon_7162	Ochlerotatus triseriatus	http://purl.obolibrary.org/obo/NCBITaxon_119225	Protomacleaya		
http://purl.obolibrary.org/obo/NCBITaxon_90010	unclassified Enterovirus	http://purl.obolibrary.org/obo/NCBITaxon_12059	Enterovirus		
http://purl.obolibrary.org/obo/NCBITaxon_3428500	Enterovirus alphacoxsackie	http://purl.obolibrary.org/obo/NCBITaxon_12059	Enterovirus		
http://purl.obolibrary.org/obo/NCBITaxon_3428502	Enterovirus betacoxsackie	http://purl.obolibrary.org/obo/NCBITaxon_12059	Enterovirus		
http://purl.obolibrary.org/obo/NCBITaxon_3428505	Enterovirus coxsackiepol	http://purl.obolibrary.org/obo/NCBITaxon_12059	Enterovirus		
http://purl.obolibrary.org/obo/NCBITaxon_3428506	Enterovirus deconjuncti	http://purl.obolibrary.org/obo/NCBITaxon_12059	Enterovirus		
http://purl.obolibrary.org/obo/NCBITaxon_6231	Nematoda	http://purl.obolibrary.org/obo/NCBITaxon_1206794	Ecdysozoa		
http://purl.obolibrary.org/obo/NCBITaxon_88770	Panarthropoda	http://purl.obolibrary.org/obo/NCBITaxon_1206794	Ecdysozoa		
http://purl.obolibrary.org/obo/NCBITaxon_6157	Platyhelminthes	http://purl.obolibrary.org/obo/NCBITaxon_1206795	Lophotrochozoa		
http://purl.obolibrary.org/obo/NCBITaxon_6447	Mollusca	http://purl.obolibrary.org/obo/NCBITaxon_1206795	Lophotrochozoa		
http://purl.obolibrary.org/obo/NCBITaxon_2750822	unclassified Mycobacterium avium complex (MAC)	http://purl.obolibrary.org/obo/NCBITaxon_120793	Mycobacterium avium complex (MAC)		
http://purl.obolibrary.org/obo/NCBITaxon_3407641	Hepatovirus ahepa	http://purl.obolibrary.org/obo/NCBITaxon_12091	Hepatovirus		
http://purl.obolibrary.org/obo/NCBITaxon_121222	Pediculus	http://purl.obolibrary.org/obo/NCBITaxon_121221	Pediculidae		
http://purl.obolibrary.org/obo/NCBITaxon_121225	Pediculus humanus	http://purl.obolibrary.org/obo/NCBITaxon_121222	Pediculus		
http://purl.obolibrary.org/obo/NCBITaxon_121752	Lacazia loboi	http://purl.obolibrary.org/obo/NCBITaxon_121739	Lacazia		
http://purl.obolibrary.org/obo/NCBITaxon_1236	Gammaproteobacteria	http://purl.obolibrary.org/obo/NCBITaxon_1224	Pseudomonadota		
http://purl.obolibrary.org/obo/NCBITaxon_28211	Alphaproteobacteria	http://purl.obolibrary.org/obo/NCBITaxon_1224	Pseudomonadota		
http://purl.obolibrary.org/obo/NCBITaxon_28216	Betaproteobacteria	http://purl.obolibrary.org/obo/NCBITaxon_1224	Pseudomonadota		
http://purl.obolibrary.org/obo/NCBITaxon_123366	Eurypterygia	http://purl.obolibrary.org/obo/NCBITaxon_123365	Neoteleostei		
http://purl.obolibrary.org/obo/NCBITaxon_123367	Ctenosquamata	http://purl.obolibrary.org/obo/NCBITaxon_123366	Eurypterygia		
http://purl.obolibrary.org/obo/NCBITaxon_123368	Acanthomorphata	http://purl.obolibrary.org/obo/NCBITaxon_123367	Ctenosquamata		
http://purl.obolibrary.org/obo/NCBITaxon_1489838	Paracanthopterygii	http://purl.obolibrary.org/obo/NCBITaxon_123368	Acanthomorphata		
http://purl.obolibrary.org/obo/NCBITaxon_118969	Legionellales	http://purl.obolibrary.org/obo/NCBITaxon_1236	Gammaproteobacteria		
http://purl.obolibrary.org/obo/NCBITaxon_135625	Pasteurellales	http://purl.obolibrary.org/obo/NCBITaxon_1236	Gammaproteobacteria		
http://purl.obolibrary.org/obo/NCBITaxon_72273	Thiotrichales	http://purl.obolibrary.org/obo/NCBITaxon_1236	Gammaproteobacteria		
http://purl.obolibrary.org/obo/NCBITaxon_91347	Enterobacterales	http://purl.obolibrary.org/obo/NCBITaxon_1236	Gammaproteobacteria		
http://purl.obolibrary.org/obo/NCBITaxon_135623	Vibrionales	http://purl.obolibrary.org/obo/NCBITaxon_1236	Gammaproteobacteria		
http://purl.obolibrary.org/obo/NCBITaxon_186801	Clostridia	http://purl.obolibrary.org/obo/NCBITaxon_1239	Bacillota		
http://purl.obolibrary.org/obo/NCBITaxon_526524	Erysipelotrichia	http://purl.obolibrary.org/obo/NCBITaxon_1239	Bacillota		
http://purl.obolibrary.org/obo/NCBITaxon_91061	Bacilli	http://purl.obolibrary.org/obo/NCBITaxon_1239	Bacillota		
http://purl.obolibrary.org/obo/NCBITaxon_7205	Tabanidae	http://purl.obolibrary.org/obo/NCBITaxon_1262365	Tabanoidea		
http://purl.obolibrary.org/obo/NCBITaxon_1280	Staphylococcus aureus	http://purl.obolibrary.org/obo/NCBITaxon_1279	Staphylococcus		
http://purl.obolibrary.org/obo/NCBITaxon_5796	Coccidia	http://purl.obolibrary.org/obo/NCBITaxon_1280412	Conoidasida		
http://purl.obolibrary.org/obo/NCBITaxon_1647	Erysipelothrix	http://purl.obolibrary.org/obo/NCBITaxon_128827	Erysipelotrichaceae		
http://purl.obolibrary.org/obo/NCBITaxon_7511	Pulicidae	http://purl.obolibrary.org/obo/NCBITaxon_129369	Pulicoidea		
http://purl.obolibrary.org/obo/NCBITaxon_1301	Streptococcus	http://purl.obolibrary.org/obo/NCBITaxon_1300	Streptococcaceae		
http://purl.obolibrary.org/obo/NCBITaxon_1314	Streptococcus pyogenes	http://purl.obolibrary.org/obo/NCBITaxon_1301	Streptococcus		
http://purl.obolibrary.org/obo/NCBITaxon_1313	Streptococcus pneumoniae	http://purl.obolibrary.org/obo/NCBITaxon_1301	Streptococcus		
http://purl.obolibrary.org/obo/NCBITaxon_3193	Embryophyta	http://purl.obolibrary.org/obo/NCBITaxon_131221	Streptophytina		
http://purl.obolibrary.org/obo/NCBITaxon_2	Bacteria	http://purl.obolibrary.org/obo/NCBITaxon_131567	cellular organisms		
http://purl.obolibrary.org/obo/NCBITaxon_2759	Eukaryota	http://purl.obolibrary.org/obo/NCBITaxon_131567	cellular organisms		
http://purl.obolibrary.org/obo/NCBITaxon_44556	Phlebotomus <subgenus>	http://purl.obolibrary.org/obo/NCBITaxon_13203	Phlebotomus <genus>		
http://purl.obolibrary.org/obo/NCBITaxon_8492	Archosauria	http://purl.obolibrary.org/obo/NCBITaxon_1329799	Archelosauria		
http://purl.obolibrary.org/obo/NCBITaxon_63673	Turbo cornutus	http://purl.obolibrary.org/obo/NCBITaxon_133423	Batillus		
http://purl.obolibrary.org/obo/NCBITaxon_32523	Tetrapoda	http://purl.obolibrary.org/obo/NCBITaxon_1338369	Dipnotetrapodomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_29960	Penaeus indicus	http://purl.obolibrary.org/obo/NCBITaxon_133894	Penaeus		
http://purl.obolibrary.org/obo/NCBITaxon_6687	Penaeus monodon	http://purl.obolibrary.org/obo/NCBITaxon_133894	Penaeus		
http://purl.obolibrary.org/obo/NCBITaxon_6689	Penaeus vannamei	http://purl.obolibrary.org/obo/NCBITaxon_133894	Penaeus		
http://purl.obolibrary.org/obo/NCBITaxon_6690	Penaeus aztecus	http://purl.obolibrary.org/obo/NCBITaxon_133894	Penaeus		
http://purl.obolibrary.org/obo/NCBITaxon_147571	Piedraiaceae	http://purl.obolibrary.org/obo/NCBITaxon_134362	Capnodiales		
http://purl.obolibrary.org/obo/NCBITaxon_712	Pasteurellaceae	http://purl.obolibrary.org/obo/NCBITaxon_135625	Pasteurellales		
http://purl.obolibrary.org/obo/NCBITaxon_1643685	Borreliaceae	http://purl.obolibrary.org/obo/NCBITaxon_136	Spirochaetales		
http://purl.obolibrary.org/obo/NCBITaxon_2845253	Treponemataceae	http://purl.obolibrary.org/obo/NCBITaxon_136	Spirochaetales		
http://purl.obolibrary.org/obo/NCBITaxon_186817	Bacillaceae	http://purl.obolibrary.org/obo/NCBITaxon_1385	Bacillales		
http://purl.obolibrary.org/obo/NCBITaxon_186820	Listeriaceae	http://purl.obolibrary.org/obo/NCBITaxon_1385	Bacillales		
http://purl.obolibrary.org/obo/NCBITaxon_90964	Staphylococcaceae	http://purl.obolibrary.org/obo/NCBITaxon_1385	Bacillales		
http://purl.obolibrary.org/obo/NCBITaxon_86661	Bacillus cereus group	http://purl.obolibrary.org/obo/NCBITaxon_1386	Bacillus <firmicutes>		
http://purl.obolibrary.org/obo/NCBITaxon_31704	Coxsackievirus A16	http://purl.obolibrary.org/obo/NCBITaxon_138948	Enterovirus A		
http://purl.obolibrary.org/obo/NCBITaxon_39054	Enterovirus A71	http://purl.obolibrary.org/obo/NCBITaxon_138948	Enterovirus A		
http://purl.obolibrary.org/obo/NCBITaxon_12080	Poliovirus 1	http://purl.obolibrary.org/obo/NCBITaxon_138950	Enterovirus C		
http://purl.obolibrary.org/obo/NCBITaxon_12083	Poliovirus 2	http://purl.obolibrary.org/obo/NCBITaxon_138950	Enterovirus C		
http://purl.obolibrary.org/obo/NCBITaxon_12086	Poliovirus 3	http://purl.obolibrary.org/obo/NCBITaxon_138950	Enterovirus C		
http://purl.obolibrary.org/obo/NCBITaxon_12089	Coxsackievirus A24	http://purl.obolibrary.org/obo/NCBITaxon_138950	Enterovirus C		
http://purl.obolibrary.org/obo/NCBITaxon_12090	enterovirus D70	http://purl.obolibrary.org/obo/NCBITaxon_138951	Enterovirus D		
http://purl.obolibrary.org/obo/NCBITaxon_129369	Pulicoidea	http://purl.obolibrary.org/obo/NCBITaxon_140693	Pulicomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_314145	Laurasiatheria	http://purl.obolibrary.org/obo/NCBITaxon_1437010	Boreoeutheria		
http://purl.obolibrary.org/obo/NCBITaxon_314146	Euarchontoglires	http://purl.obolibrary.org/obo/NCBITaxon_1437010	Boreoeutheria		
http://purl.obolibrary.org/obo/NCBITaxon_4447	Liliopsida	http://purl.obolibrary.org/obo/NCBITaxon_1437183	Mesangiospermae		
http://purl.obolibrary.org/obo/NCBITaxon_71240	eudicotyledons	http://purl.obolibrary.org/obo/NCBITaxon_1437183	Mesangiospermae		
http://purl.obolibrary.org/obo/NCBITaxon_4734	commelinids	http://purl.obolibrary.org/obo/NCBITaxon_1437197	Petrosaviidae		
http://purl.obolibrary.org/obo/NCBITaxon_71274	asterids	http://purl.obolibrary.org/obo/NCBITaxon_1437201	Pentapetalae		
http://purl.obolibrary.org/obo/NCBITaxon_71275	rosids	http://purl.obolibrary.org/obo/NCBITaxon_1437201	Pentapetalae		
http://purl.obolibrary.org/obo/NCBITaxon_6329	Trichinellida	http://purl.obolibrary.org/obo/NCBITaxon_1457286	Dorylaimia		
http://purl.obolibrary.org/obo/NCBITaxon_1648037	Poodae	http://purl.obolibrary.org/obo/NCBITaxon_147368	Pooideae		
http://purl.obolibrary.org/obo/NCBITaxon_1652081	Poeae Chloroplast Group 2 (Poeae type)	http://purl.obolibrary.org/obo/NCBITaxon_147387	Poeae		
http://purl.obolibrary.org/obo/NCBITaxon_3239874	Pichiomycetes	http://purl.obolibrary.org/obo/NCBITaxon_147537	Saccharomycotina		
http://purl.obolibrary.org/obo/NCBITaxon_716546	leotiomyceta	http://purl.obolibrary.org/obo/NCBITaxon_147538	Pezizomycotina		
http://purl.obolibrary.org/obo/NCBITaxon_451867	Dothideomycetidae	http://purl.obolibrary.org/obo/NCBITaxon_147541	Dothideomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_451868	Pleosporomycetidae	http://purl.obolibrary.org/obo/NCBITaxon_147541	Dothideomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_451870	Chaetothyriomycetidae	http://purl.obolibrary.org/obo/NCBITaxon_147545	Eurotiomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_451871	Eurotiomycetidae	http://purl.obolibrary.org/obo/NCBITaxon_147545	Eurotiomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_222543	Hypocreomycetidae	http://purl.obolibrary.org/obo/NCBITaxon_147550	Sordariomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_222544	Sordariomycetidae	http://purl.obolibrary.org/obo/NCBITaxon_147550	Sordariomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_37987	Pneumocystales	http://purl.obolibrary.org/obo/NCBITaxon_147553	Pneumocystomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_1513	Clostridium tetani	http://purl.obolibrary.org/obo/NCBITaxon_1485	Clostridium		
http://purl.obolibrary.org/obo/NCBITaxon_1491	Clostridium botulinum	http://purl.obolibrary.org/obo/NCBITaxon_1485	Clostridium		
http://purl.obolibrary.org/obo/NCBITaxon_186625	Clupeocephala	http://purl.obolibrary.org/obo/NCBITaxon_1489341	Osteoglossocephalai		
http://purl.obolibrary.org/obo/NCBITaxon_123365	Neoteleostei	http://purl.obolibrary.org/obo/NCBITaxon_1489388	Euteleosteomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_41705	Protacanthopterygii	http://purl.obolibrary.org/obo/NCBITaxon_1489388	Euteleosteomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_1489841	Zeiogadaria	http://purl.obolibrary.org/obo/NCBITaxon_1489838	Paracanthopterygii		
http://purl.obolibrary.org/obo/NCBITaxon_1489843	Gadariae	http://purl.obolibrary.org/obo/NCBITaxon_1489841	Zeiogadaria		
http://purl.obolibrary.org/obo/NCBITaxon_8043	Gadiformes	http://purl.obolibrary.org/obo/NCBITaxon_1489843	Gadariae		
http://purl.obolibrary.org/obo/NCBITaxon_8045	Gadidae	http://purl.obolibrary.org/obo/NCBITaxon_1489845	Gadoidei		
http://purl.obolibrary.org/obo/NCBITaxon_36826	Clostridium botulinum A	http://purl.obolibrary.org/obo/NCBITaxon_1491	Clostridium botulinum		
http://purl.obolibrary.org/obo/NCBITaxon_36827	Clostridium botulinum B	http://purl.obolibrary.org/obo/NCBITaxon_1491	Clostridium botulinum		
http://purl.obolibrary.org/obo/NCBITaxon_36830	Clostridium botulinum E	http://purl.obolibrary.org/obo/NCBITaxon_1491	Clostridium botulinum		
http://purl.obolibrary.org/obo/NCBITaxon_36831	Clostridium botulinum F	http://purl.obolibrary.org/obo/NCBITaxon_1491	Clostridium botulinum		
http://purl.obolibrary.org/obo/NCBITaxon_333774	unclassified Papillomaviridae	http://purl.obolibrary.org/obo/NCBITaxon_151340	Papillomaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_2169595	Firstpapillomavirinae	http://purl.obolibrary.org/obo/NCBITaxon_151340	Papillomaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_693762	Schizaeales	http://purl.obolibrary.org/obo/NCBITaxon_1521262	Polypodiidae <ferns>		
http://purl.obolibrary.org/obo/NCBITaxon_3428212	Deltaretrovirus priTlym1	http://purl.obolibrary.org/obo/NCBITaxon_153136	Deltaretrovirus		
http://purl.obolibrary.org/obo/NCBITaxon_8976	Galliformes	http://purl.obolibrary.org/obo/NCBITaxon_1549675	Galloanserae		
http://purl.obolibrary.org/obo/NCBITaxon_1851469	Trichosporonales	http://purl.obolibrary.org/obo/NCBITaxon_155616	Tremellomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_5579	Aureobasidium	http://purl.obolibrary.org/obo/NCBITaxon_1570301	Saccotheciaceae		
http://purl.obolibrary.org/obo/NCBITaxon_157541	Zygodontomys brevicauda	http://purl.obolibrary.org/obo/NCBITaxon_157540	Zygodontomys		
http://purl.obolibrary.org/obo/NCBITaxon_15957	Phleum pratense	http://purl.obolibrary.org/obo/NCBITaxon_15956	Phleum		
http://purl.obolibrary.org/obo/NCBITaxon_163159	Xenopsylla cheopis	http://purl.obolibrary.org/obo/NCBITaxon_163158	Xenopsylla		
http://purl.obolibrary.org/obo/NCBITaxon_5820	Plasmodium	http://purl.obolibrary.org/obo/NCBITaxon_1639119	Plasmodiidae		
http://purl.obolibrary.org/obo/NCBITaxon_138	Borrelia	http://purl.obolibrary.org/obo/NCBITaxon_1643685	Borreliaceae		
http://purl.obolibrary.org/obo/NCBITaxon_64895	Borreliella	http://purl.obolibrary.org/obo/NCBITaxon_1643685	Borreliaceae		
http://purl.obolibrary.org/obo/NCBITaxon_170	Leptospiraceae	http://purl.obolibrary.org/obo/NCBITaxon_1643688	Leptospirales		
http://purl.obolibrary.org/obo/NCBITaxon_1648	Erysipelothrix rhusiopathiae	http://purl.obolibrary.org/obo/NCBITaxon_1647	Erysipelothrix		
http://purl.obolibrary.org/obo/NCBITaxon_147387	Poeae	http://purl.obolibrary.org/obo/NCBITaxon_1648037	Poodae		
http://purl.obolibrary.org/obo/NCBITaxon_3052303	Mammarenavirus choriomeningitidis	http://purl.obolibrary.org/obo/NCBITaxon_1653394	Mammarenavirus		
http://purl.obolibrary.org/obo/NCBITaxon_2169991	Mammarenavirus juninense	http://purl.obolibrary.org/obo/NCBITaxon_1653394	Mammarenavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052302	Mammarenavirus chapareense	http://purl.obolibrary.org/obo/NCBITaxon_1653394	Mammarenavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052307	Mammarenavirus guanaritoense	http://purl.obolibrary.org/obo/NCBITaxon_1653394	Mammarenavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052314	Mammarenavirus lujoense	http://purl.obolibrary.org/obo/NCBITaxon_1653394	Mammarenavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052317	Mammarenavirus machupoense	http://purl.obolibrary.org/obo/NCBITaxon_1653394	Mammarenavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052331	Mammarenavirus whitewaterense	http://purl.obolibrary.org/obo/NCBITaxon_1653394	Mammarenavirus		
http://purl.obolibrary.org/obo/NCBITaxon_169449	Coelopinae	http://purl.obolibrary.org/obo/NCBITaxon_169440	Coelopidae		
http://purl.obolibrary.org/obo/NCBITaxon_169455	Coelopellini	http://purl.obolibrary.org/obo/NCBITaxon_169449	Coelopinae		
http://purl.obolibrary.org/obo/NCBITaxon_169495	This	http://purl.obolibrary.org/obo/NCBITaxon_169455	Coelopellini		
http://purl.obolibrary.org/obo/NCBITaxon_721805	Amygdaleae	http://purl.obolibrary.org/obo/NCBITaxon_171637	Amygdaloideae		
http://purl.obolibrary.org/obo/NCBITaxon_721813	Maleae	http://purl.obolibrary.org/obo/NCBITaxon_171637	Amygdaloideae		
http://purl.obolibrary.org/obo/NCBITaxon_2706	Citrus	http://purl.obolibrary.org/obo/NCBITaxon_1728959	Aurantioideae		
http://purl.obolibrary.org/obo/NCBITaxon_2037	Actinomycetales	http://purl.obolibrary.org/obo/NCBITaxon_1760	Actinomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_85007	Mycobacteriales	http://purl.obolibrary.org/obo/NCBITaxon_1760	Actinomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_85009	Propionibacteriales	http://purl.obolibrary.org/obo/NCBITaxon_1760	Actinomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_1763	Mycobacterium	http://purl.obolibrary.org/obo/NCBITaxon_1762	Mycobacteriaceae		
http://purl.obolibrary.org/obo/NCBITaxon_1769	Mycobacterium leprae	http://purl.obolibrary.org/obo/NCBITaxon_1763	Mycobacterium		
http://purl.obolibrary.org/obo/NCBITaxon_120793	Mycobacterium avium complex (MAC)	http://purl.obolibrary.org/obo/NCBITaxon_1763	Mycobacterium		
http://purl.obolibrary.org/obo/NCBITaxon_77643	Mycobacterium tuberculosis complex	http://purl.obolibrary.org/obo/NCBITaxon_1763	Mycobacterium		
http://purl.obolibrary.org/obo/NCBITaxon_186458	Orthobornavirus	http://purl.obolibrary.org/obo/NCBITaxon_178830	Bornaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_1714619	Orthobornavirus bornaense	http://purl.obolibrary.org/obo/NCBITaxon_186458	Orthobornavirus		
http://purl.obolibrary.org/obo/NCBITaxon_41665	Neopterygii	http://purl.obolibrary.org/obo/NCBITaxon_186623	Actinopteri		
http://purl.obolibrary.org/obo/NCBITaxon_1489388	Euteleosteomorpha	http://purl.obolibrary.org/obo/NCBITaxon_186625	Clupeocephala		
http://purl.obolibrary.org/obo/NCBITaxon_186634	Otomorpha	http://purl.obolibrary.org/obo/NCBITaxon_186625	Clupeocephala		
http://purl.obolibrary.org/obo/NCBITaxon_186627	Cypriniphysae	http://purl.obolibrary.org/obo/NCBITaxon_186626	Otophysi		
http://purl.obolibrary.org/obo/NCBITaxon_7952	Cypriniformes	http://purl.obolibrary.org/obo/NCBITaxon_186627	Cypriniphysae		
http://purl.obolibrary.org/obo/NCBITaxon_32519	Ostariophysi	http://purl.obolibrary.org/obo/NCBITaxon_186634	Otomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_186802	Eubacteriales	http://purl.obolibrary.org/obo/NCBITaxon_186801	Clostridia		
http://purl.obolibrary.org/obo/NCBITaxon_31979	Clostridiaceae	http://purl.obolibrary.org/obo/NCBITaxon_186802	Eubacteriales		
http://purl.obolibrary.org/obo/NCBITaxon_1386	Bacillus <firmicutes>	http://purl.obolibrary.org/obo/NCBITaxon_186817	Bacillaceae		
http://purl.obolibrary.org/obo/NCBITaxon_1637	Listeria	http://purl.obolibrary.org/obo/NCBITaxon_186820	Listeriaceae		
http://purl.obolibrary.org/obo/NCBITaxon_1300	Streptococcaceae	http://purl.obolibrary.org/obo/NCBITaxon_186826	Lactobacillales		
http://purl.obolibrary.org/obo/NCBITaxon_119225	Protomacleaya	http://purl.obolibrary.org/obo/NCBITaxon_190765	Ochlerotatus <genus>		
http://purl.obolibrary.org/obo/NCBITaxon_197	Campylobacter jejuni	http://purl.obolibrary.org/obo/NCBITaxon_194	Campylobacter		
http://purl.obolibrary.org/obo/NCBITaxon_11908	Human T-cell leukemia virus type I	http://purl.obolibrary.org/obo/NCBITaxon_194440	Primate T-lymphotropic virus 1		
http://purl.obolibrary.org/obo/NCBITaxon_6657	Crustacea	http://purl.obolibrary.org/obo/NCBITaxon_197562	Pancrustacea		
http://purl.obolibrary.org/obo/NCBITaxon_6960	Hexapoda	http://purl.obolibrary.org/obo/NCBITaxon_197562	Pancrustacea		
http://purl.obolibrary.org/obo/NCBITaxon_197562	Pancrustacea	http://purl.obolibrary.org/obo/NCBITaxon_197563	Mandibulata		
http://purl.obolibrary.org/obo/NCBITaxon_1760	Actinomycetes	http://purl.obolibrary.org/obo/NCBITaxon_201174	Actinomycetota		
http://purl.obolibrary.org/obo/NCBITaxon_69034	Rotaliidae	http://purl.obolibrary.org/obo/NCBITaxon_203397	Rotaliacea		
http://purl.obolibrary.org/obo/NCBITaxon_203491	Fusobacteriales	http://purl.obolibrary.org/obo/NCBITaxon_203490	Fusobacteriia		
http://purl.obolibrary.org/obo/NCBITaxon_1129771	Leptotrichiaceae	http://purl.obolibrary.org/obo/NCBITaxon_203491	Fusobacteriales		
http://purl.obolibrary.org/obo/NCBITaxon_203692	Spirochaetia	http://purl.obolibrary.org/obo/NCBITaxon_203691	Spirochaetota		
http://purl.obolibrary.org/obo/NCBITaxon_136	Spirochaetales	http://purl.obolibrary.org/obo/NCBITaxon_203692	Spirochaetia		
http://purl.obolibrary.org/obo/NCBITaxon_1643688	Leptospirales	http://purl.obolibrary.org/obo/NCBITaxon_203692	Spirochaetia		
http://purl.obolibrary.org/obo/NCBITaxon_2049	Actinomycetaceae	http://purl.obolibrary.org/obo/NCBITaxon_2037	Actinomycetales		
http://purl.obolibrary.org/obo/NCBITaxon_204429	Chlamydiia	http://purl.obolibrary.org/obo/NCBITaxon_204428	Chlamydiota		
http://purl.obolibrary.org/obo/NCBITaxon_51291	Chlamydiales	http://purl.obolibrary.org/obo/NCBITaxon_204429	Chlamydiia		
http://purl.obolibrary.org/obo/NCBITaxon_1654	Actinomyces	http://purl.obolibrary.org/obo/NCBITaxon_2049	Actinomycetaceae		
http://purl.obolibrary.org/obo/NCBITaxon_2529408	Schaalia	http://purl.obolibrary.org/obo/NCBITaxon_2049	Actinomycetaceae		
http://purl.obolibrary.org/obo/NCBITaxon_481	Neisseriaceae	http://purl.obolibrary.org/obo/NCBITaxon_206351	Neisseriales		
http://purl.obolibrary.org/obo/NCBITaxon_72294	Campylobacteraceae	http://purl.obolibrary.org/obo/NCBITaxon_213849	Campylobacterales		
http://purl.obolibrary.org/obo/NCBITaxon_63671	Turbinidae	http://purl.obolibrary.org/obo/NCBITaxon_216285	Trochoidea <superfamily>		
http://purl.obolibrary.org/obo/NCBITaxon_5592	Microascales	http://purl.obolibrary.org/obo/NCBITaxon_222543	Hypocreomycetidae		
http://purl.obolibrary.org/obo/NCBITaxon_5151	Ophiostomatales	http://purl.obolibrary.org/obo/NCBITaxon_222544	Sordariomycetidae		
http://purl.obolibrary.org/obo/NCBITaxon_235	Brucella abortus	http://purl.obolibrary.org/obo/NCBITaxon_234	Brucella		
http://purl.obolibrary.org/obo/NCBITaxon_29459	Brucella melitensis	http://purl.obolibrary.org/obo/NCBITaxon_234	Brucella		
http://purl.obolibrary.org/obo/NCBITaxon_29461	Brucella suis	http://purl.obolibrary.org/obo/NCBITaxon_234	Brucella		
http://purl.obolibrary.org/obo/NCBITaxon_36855	Brucella canis	http://purl.obolibrary.org/obo/NCBITaxon_234	Brucella		
http://purl.obolibrary.org/obo/NCBITaxon_1728959	Aurantioideae	http://purl.obolibrary.org/obo/NCBITaxon_23513	Rutaceae		
http://purl.obolibrary.org/obo/NCBITaxon_1521262	Polypodiidae <ferns>	http://purl.obolibrary.org/obo/NCBITaxon_241806	Polypodiopsida		
http://purl.obolibrary.org/obo/NCBITaxon_35793	Rickettsia sibirica	http://purl.obolibrary.org/obo/NCBITaxon_266068	Rickettsia sibirica subgroup		
http://purl.obolibrary.org/obo/NCBITaxon_2711	Citrus sinensis	http://purl.obolibrary.org/obo/NCBITaxon_2706	Citrus		
http://purl.obolibrary.org/obo/NCBITaxon_33090	Viridiplantae	http://purl.obolibrary.org/obo/NCBITaxon_2759	Eukaryota		
http://purl.obolibrary.org/obo/NCBITaxon_33154	Opisthokonta	http://purl.obolibrary.org/obo/NCBITaxon_2759	Eukaryota		
http://purl.obolibrary.org/obo/NCBITaxon_554915	Amoebozoa	http://purl.obolibrary.org/obo/NCBITaxon_2759	Eukaryota		
http://purl.obolibrary.org/obo/NCBITaxon_2698737	Sar	http://purl.obolibrary.org/obo/NCBITaxon_2759	Eukaryota		
http://purl.obolibrary.org/obo/NCBITaxon_2611352	Discoba	http://purl.obolibrary.org/obo/NCBITaxon_2759	Eukaryota		
http://purl.obolibrary.org/obo/NCBITaxon_9903	Bos	http://purl.obolibrary.org/obo/NCBITaxon_27592	Bovinae		
http://purl.obolibrary.org/obo/NCBITaxon_299467	Leptotrombidium deliense	http://purl.obolibrary.org/obo/NCBITaxon_279271	Leptotrombidium		
http://purl.obolibrary.org/obo/NCBITaxon_356	Hyphomicrobiales	http://purl.obolibrary.org/obo/NCBITaxon_28211	Alphaproteobacteria		
http://purl.obolibrary.org/obo/NCBITaxon_766	Rickettsiales	http://purl.obolibrary.org/obo/NCBITaxon_28211	Alphaproteobacteria		
http://purl.obolibrary.org/obo/NCBITaxon_206351	Neisseriales	http://purl.obolibrary.org/obo/NCBITaxon_28216	Betaproteobacteria		
http://purl.obolibrary.org/obo/NCBITaxon_80840	Burkholderiales	http://purl.obolibrary.org/obo/NCBITaxon_28216	Betaproteobacteria		
http://purl.obolibrary.org/obo/NCBITaxon_5598	Alternaria	http://purl.obolibrary.org/obo/NCBITaxon_28556	Pleosporaceae		
http://purl.obolibrary.org/obo/NCBITaxon_91493	Exserohilum	http://purl.obolibrary.org/obo/NCBITaxon_28556	Pleosporaceae		
http://purl.obolibrary.org/obo/NCBITaxon_5502	Curvularia	http://purl.obolibrary.org/obo/NCBITaxon_28556	Pleosporaceae		
http://purl.obolibrary.org/obo/NCBITaxon_5094	Talaromyces	http://purl.obolibrary.org/obo/NCBITaxon_28568	Trichocomaceae		
http://purl.obolibrary.org/obo/NCBITaxon_56210	Calomys callosus	http://purl.obolibrary.org/obo/NCBITaxon_29105	Calomys		
http://purl.obolibrary.org/obo/NCBITaxon_56211	Calomys laucha	http://purl.obolibrary.org/obo/NCBITaxon_29105	Calomys		
http://purl.obolibrary.org/obo/NCBITaxon_56212	Calomys musculinus	http://purl.obolibrary.org/obo/NCBITaxon_29105	Calomys		
http://purl.obolibrary.org/obo/NCBITaxon_137207	Oligoryzomys longicaudatus	http://purl.obolibrary.org/obo/NCBITaxon_29120	Oligoryzomys		
http://purl.obolibrary.org/obo/NCBITaxon_37020	Oryzomys palustris	http://purl.obolibrary.org/obo/NCBITaxon_29122	Oryzomys		
http://purl.obolibrary.org/obo/NCBITaxon_29185	Rotaliida	http://purl.obolibrary.org/obo/NCBITaxon_29178	Foraminifera		
http://purl.obolibrary.org/obo/NCBITaxon_203397	Rotaliacea	http://purl.obolibrary.org/obo/NCBITaxon_29185	Rotaliida		
http://purl.obolibrary.org/obo/NCBITaxon_3031852	Epsilonproteobacteria	http://purl.obolibrary.org/obo/NCBITaxon_29547	Campylobacterota		
http://purl.obolibrary.org/obo/NCBITaxon_6936	Argasidae	http://purl.obolibrary.org/obo/NCBITaxon_297308	Ixodoidea		
http://purl.obolibrary.org/obo/NCBITaxon_6939	Ixodidae	http://purl.obolibrary.org/obo/NCBITaxon_297308	Ixodoidea		
http://purl.obolibrary.org/obo/NCBITaxon_29908	Sporothrix schenckii	http://purl.obolibrary.org/obo/NCBITaxon_29907	Sporothrix		
http://purl.obolibrary.org/obo/NCBITaxon_38946	Paracoccidioides	http://purl.obolibrary.org/obo/NCBITaxon_299071	Ajellomycetaceae		
http://purl.obolibrary.org/obo/NCBITaxon_1955773	Emergomyces	http://purl.obolibrary.org/obo/NCBITaxon_299071	Ajellomycetaceae		
http://purl.obolibrary.org/obo/NCBITaxon_229219	Blastomyces	http://purl.obolibrary.org/obo/NCBITaxon_299071	Ajellomycetaceae		
http://purl.obolibrary.org/obo/NCBITaxon_121221	Pediculidae	http://purl.obolibrary.org/obo/NCBITaxon_30005	Anoplura		
http://purl.obolibrary.org/obo/NCBITaxon_7953	Cyprinidae	http://purl.obolibrary.org/obo/NCBITaxon_30727	Cyprinoidei		
http://purl.obolibrary.org/obo/NCBITaxon_2743709	Danionidae	http://purl.obolibrary.org/obo/NCBITaxon_30727	Cyprinoidei		
http://purl.obolibrary.org/obo/NCBITaxon_3051624	Amdoparvovirus carnivoran1	http://purl.obolibrary.org/obo/NCBITaxon_310911	Amdoparvovirus		
http://purl.obolibrary.org/obo/NCBITaxon_91561	Artiodactyla	http://purl.obolibrary.org/obo/NCBITaxon_314145	Laurasiatheria		
http://purl.obolibrary.org/obo/NCBITaxon_314147	Glires	http://purl.obolibrary.org/obo/NCBITaxon_314146	Euarchontoglires		
http://purl.obolibrary.org/obo/NCBITaxon_9989	Rodentia	http://purl.obolibrary.org/obo/NCBITaxon_314147	Glires		
http://purl.obolibrary.org/obo/NCBITaxon_58023	Tracheophyta	http://purl.obolibrary.org/obo/NCBITaxon_3193	Embryophyta		
http://purl.obolibrary.org/obo/NCBITaxon_2801844	Arachnia	http://purl.obolibrary.org/obo/NCBITaxon_31957	Propionibacteriaceae		
http://purl.obolibrary.org/obo/NCBITaxon_1485	Clostridium	http://purl.obolibrary.org/obo/NCBITaxon_31979	Clostridiaceae		
http://purl.obolibrary.org/obo/NCBITaxon_111527	pseudomallei group	http://purl.obolibrary.org/obo/NCBITaxon_32008	Burkholderia		
http://purl.obolibrary.org/obo/NCBITaxon_203490	Fusobacteriia	http://purl.obolibrary.org/obo/NCBITaxon_32066	Fusobacteriota		
http://purl.obolibrary.org/obo/NCBITaxon_1489341	Osteoglossocephalai	http://purl.obolibrary.org/obo/NCBITaxon_32443	Teleostei		
http://purl.obolibrary.org/obo/NCBITaxon_186626	Otophysi	http://purl.obolibrary.org/obo/NCBITaxon_32519	Ostariophysi		
http://purl.obolibrary.org/obo/NCBITaxon_32524	Amniota	http://purl.obolibrary.org/obo/NCBITaxon_32523	Tetrapoda		
http://purl.obolibrary.org/obo/NCBITaxon_40674	Mammalia	http://purl.obolibrary.org/obo/NCBITaxon_32524	Amniota		
http://purl.obolibrary.org/obo/NCBITaxon_8457	Sauropsida	http://purl.obolibrary.org/obo/NCBITaxon_32524	Amniota		
http://purl.obolibrary.org/obo/NCBITaxon_9347	Eutheria	http://purl.obolibrary.org/obo/NCBITaxon_32525	Theria <mammals>		
http://purl.obolibrary.org/obo/NCBITaxon_72171	Ziziphus	http://purl.obolibrary.org/obo/NCBITaxon_325284	Paliureae		
http://purl.obolibrary.org/obo/NCBITaxon_1329799	Archelosauria	http://purl.obolibrary.org/obo/NCBITaxon_32561	Sauria		
http://purl.obolibrary.org/obo/NCBITaxon_153136	Deltaretrovirus	http://purl.obolibrary.org/obo/NCBITaxon_327045	Orthoretrovirinae		
http://purl.obolibrary.org/obo/NCBITaxon_1233735	unclassified Orthoretrovirinae	http://purl.obolibrary.org/obo/NCBITaxon_327045	Orthoretrovirinae		
http://purl.obolibrary.org/obo/NCBITaxon_35493	Streptophyta	http://purl.obolibrary.org/obo/NCBITaxon_33090	Viridiplantae		
http://purl.obolibrary.org/obo/NCBITaxon_4751	Fungi	http://purl.obolibrary.org/obo/NCBITaxon_33154	Opisthokonta		
http://purl.obolibrary.org/obo/NCBITaxon_33208	Metazoa	http://purl.obolibrary.org/obo/NCBITaxon_33154	Opisthokonta		
http://purl.obolibrary.org/obo/NCBITaxon_299071	Ajellomycetaceae	http://purl.obolibrary.org/obo/NCBITaxon_33183	Onygenales		
http://purl.obolibrary.org/obo/NCBITaxon_34384	Arthrodermataceae	http://purl.obolibrary.org/obo/NCBITaxon_33183	Onygenales		
http://purl.obolibrary.org/obo/NCBITaxon_1593277	Onygenales incertae sedis	http://purl.obolibrary.org/obo/NCBITaxon_33183	Onygenales		
http://purl.obolibrary.org/obo/NCBITaxon_6072	Eumetazoa	http://purl.obolibrary.org/obo/NCBITaxon_33208	Metazoa		
http://purl.obolibrary.org/obo/NCBITaxon_33317	Protostomia	http://purl.obolibrary.org/obo/NCBITaxon_33213	Bilateria		
http://purl.obolibrary.org/obo/NCBITaxon_33511	Deuterostomia	http://purl.obolibrary.org/obo/NCBITaxon_33213	Bilateria		
http://purl.obolibrary.org/obo/NCBITaxon_33259	Toxocaridae	http://purl.obolibrary.org/obo/NCBITaxon_33256	Ascaridoidea		
http://purl.obolibrary.org/obo/NCBITaxon_6267	Anisakidae	http://purl.obolibrary.org/obo/NCBITaxon_33256	Ascaridoidea		
http://purl.obolibrary.org/obo/NCBITaxon_1206794	Ecdysozoa	http://purl.obolibrary.org/obo/NCBITaxon_33317	Protostomia		
http://purl.obolibrary.org/obo/NCBITaxon_2697495	Spiralia	http://purl.obolibrary.org/obo/NCBITaxon_33317	Protostomia		
http://purl.obolibrary.org/obo/NCBITaxon_33342	Paraneoptera	http://purl.obolibrary.org/obo/NCBITaxon_33340	Neoptera		
http://purl.obolibrary.org/obo/NCBITaxon_33392	Endopterygota	http://purl.obolibrary.org/obo/NCBITaxon_33340	Neoptera		
http://purl.obolibrary.org/obo/NCBITaxon_1930602	Psocodea	http://purl.obolibrary.org/obo/NCBITaxon_33342	Paraneoptera		
http://purl.obolibrary.org/obo/NCBITaxon_173087	Human papillomavirus types	http://purl.obolibrary.org/obo/NCBITaxon_333774	unclassified Papillomaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_7147	Diptera	http://purl.obolibrary.org/obo/NCBITaxon_33392	Endopterygota		
http://purl.obolibrary.org/obo/NCBITaxon_7509	Siphonaptera	http://purl.obolibrary.org/obo/NCBITaxon_33392	Endopterygota		
http://purl.obolibrary.org/obo/NCBITaxon_7711	Chordata	http://purl.obolibrary.org/obo/NCBITaxon_33511	Deuterostomia		
http://purl.obolibrary.org/obo/NCBITaxon_5794	Apicomplexa	http://purl.obolibrary.org/obo/NCBITaxon_33630	Alveolata		
http://purl.obolibrary.org/obo/NCBITaxon_5653	Kinetoplastea	http://purl.obolibrary.org/obo/NCBITaxon_33682	Euglenozoa		
http://purl.obolibrary.org/obo/NCBITaxon_337963	Neotominae	http://purl.obolibrary.org/obo/NCBITaxon_337677	Cricetidae		
http://purl.obolibrary.org/obo/NCBITaxon_39087	Arvicolinae	http://purl.obolibrary.org/obo/NCBITaxon_337677	Cricetidae		
http://purl.obolibrary.org/obo/NCBITaxon_40141	Sigmodontinae	http://purl.obolibrary.org/obo/NCBITaxon_337677	Cricetidae		
http://purl.obolibrary.org/obo/NCBITaxon_10066	Muridae	http://purl.obolibrary.org/obo/NCBITaxon_337687	Muroidea		
http://purl.obolibrary.org/obo/NCBITaxon_337677	Cricetidae	http://purl.obolibrary.org/obo/NCBITaxon_337687	Muroidea		
http://purl.obolibrary.org/obo/NCBITaxon_42407	Neotoma	http://purl.obolibrary.org/obo/NCBITaxon_337963	Neotominae		
http://purl.obolibrary.org/obo/NCBITaxon_1437183	Mesangiospermae	http://purl.obolibrary.org/obo/NCBITaxon_3398	Magnoliopsida		
http://purl.obolibrary.org/obo/NCBITaxon_780	Rickettsia	http://purl.obolibrary.org/obo/NCBITaxon_33988	Rickettsieae		
http://purl.obolibrary.org/obo/NCBITaxon_69474	Orientia	http://purl.obolibrary.org/obo/NCBITaxon_33988	Rickettsieae		
http://purl.obolibrary.org/obo/NCBITaxon_262	Francisella	http://purl.obolibrary.org/obo/NCBITaxon_34064	Francisellaceae		
http://purl.obolibrary.org/obo/NCBITaxon_34105	Streptobacillus moniliformis	http://purl.obolibrary.org/obo/NCBITaxon_34104	Streptobacillus		
http://purl.obolibrary.org/obo/NCBITaxon_43987	Geotrichum	http://purl.obolibrary.org/obo/NCBITaxon_34353	Dipodascaceae		
http://purl.obolibrary.org/obo/NCBITaxon_34390	Epidermophyton	http://purl.obolibrary.org/obo/NCBITaxon_34384	Arthrodermataceae		
http://purl.obolibrary.org/obo/NCBITaxon_5550	Trichophyton	http://purl.obolibrary.org/obo/NCBITaxon_34384	Arthrodermataceae		
http://purl.obolibrary.org/obo/NCBITaxon_1915381	Nannizzia	http://purl.obolibrary.org/obo/NCBITaxon_34384	Arthrodermataceae		
http://purl.obolibrary.org/obo/NCBITaxon_43219	Herpotrichiellaceae	http://purl.obolibrary.org/obo/NCBITaxon_34395	Chaetothyriales		
http://purl.obolibrary.org/obo/NCBITaxon_181088	Haemaphysalis flava	http://purl.obolibrary.org/obo/NCBITaxon_34622	Haemaphysalis		
http://purl.obolibrary.org/obo/NCBITaxon_523089	Haemaphysalis concinna	http://purl.obolibrary.org/obo/NCBITaxon_34622	Haemaphysalis		
http://purl.obolibrary.org/obo/NCBITaxon_426455	Rhipicephalus <subgenus>	http://purl.obolibrary.org/obo/NCBITaxon_34630	Rhipicephalus <genus>		
http://purl.obolibrary.org/obo/NCBITaxon_131221	Streptophytina	http://purl.obolibrary.org/obo/NCBITaxon_35493	Streptophyta		
http://purl.obolibrary.org/obo/NCBITaxon_9895	Bovidae	http://purl.obolibrary.org/obo/NCBITaxon_35500	Pecora		
http://purl.obolibrary.org/obo/NCBITaxon_118882	Brucellaceae	http://purl.obolibrary.org/obo/NCBITaxon_356	Hyphomicrobiales		
http://purl.obolibrary.org/obo/NCBITaxon_772	Bartonellaceae	http://purl.obolibrary.org/obo/NCBITaxon_356	Hyphomicrobiales		
http://purl.obolibrary.org/obo/NCBITaxon_147368	Pooideae	http://purl.obolibrary.org/obo/NCBITaxon_359160	BOP clade		
http://purl.obolibrary.org/obo/NCBITaxon_325284	Paliureae	http://purl.obolibrary.org/obo/NCBITaxon_3608	Rhamnaceae		
http://purl.obolibrary.org/obo/NCBITaxon_36087	Trichuris trichiura	http://purl.obolibrary.org/obo/NCBITaxon_36086	Trichuris		
http://purl.obolibrary.org/obo/NCBITaxon_1003877	Benincaseae	http://purl.obolibrary.org/obo/NCBITaxon_3650	Cucurbitaceae		
http://purl.obolibrary.org/obo/NCBITaxon_3656	Cucumis melo	http://purl.obolibrary.org/obo/NCBITaxon_3655	Cucumis		
http://purl.obolibrary.org/obo/NCBITaxon_6033	Encephalitozoon	http://purl.obolibrary.org/obo/NCBITaxon_36734	Unikaryonidae		
http://purl.obolibrary.org/obo/NCBITaxon_3608	Rhamnaceae	http://purl.obolibrary.org/obo/NCBITaxon_3744	Rosales		
http://purl.obolibrary.org/obo/NCBITaxon_3745	Rosaceae	http://purl.obolibrary.org/obo/NCBITaxon_3744	Rosales		
http://purl.obolibrary.org/obo/NCBITaxon_171637	Amygdaloideae	http://purl.obolibrary.org/obo/NCBITaxon_3745	Rosaceae		
http://purl.obolibrary.org/obo/NCBITaxon_3750	Malus domestica	http://purl.obolibrary.org/obo/NCBITaxon_3749	Malus		
http://purl.obolibrary.org/obo/NCBITaxon_36596	Prunus armeniaca	http://purl.obolibrary.org/obo/NCBITaxon_3754	Prunus		
http://purl.obolibrary.org/obo/NCBITaxon_3758	Prunus domestica	http://purl.obolibrary.org/obo/NCBITaxon_3754	Prunus		
http://purl.obolibrary.org/obo/NCBITaxon_3760	Prunus persica	http://purl.obolibrary.org/obo/NCBITaxon_3754	Prunus		
http://purl.obolibrary.org/obo/NCBITaxon_42229	Prunus avium	http://purl.obolibrary.org/obo/NCBITaxon_3754	Prunus		
http://purl.obolibrary.org/obo/NCBITaxon_44281	Pneumocystaceae	http://purl.obolibrary.org/obo/NCBITaxon_37987	Pneumocystales		
http://purl.obolibrary.org/obo/NCBITaxon_4479	Poaceae	http://purl.obolibrary.org/obo/NCBITaxon_38820	Poales		
http://purl.obolibrary.org/obo/NCBITaxon_121759	Paracoccidioides brasiliensis	http://purl.obolibrary.org/obo/NCBITaxon_38946	Paracoccidioides		
http://purl.obolibrary.org/obo/NCBITaxon_447134	Myodes	http://purl.obolibrary.org/obo/NCBITaxon_39087	Arvicolinae		
http://purl.obolibrary.org/obo/NCBITaxon_10088	Mus <genus>	http://purl.obolibrary.org/obo/NCBITaxon_39107	Murinae		
http://purl.obolibrary.org/obo/NCBITaxon_10114	Rattus	http://purl.obolibrary.org/obo/NCBITaxon_39107	Murinae		
http://purl.obolibrary.org/obo/NCBITaxon_10128	Apodemus	http://purl.obolibrary.org/obo/NCBITaxon_39107	Murinae		
http://purl.obolibrary.org/obo/NCBITaxon_54292	Apodemus flavicollis	http://purl.obolibrary.org/obo/NCBITaxon_400053	Sylvaemus group		
http://purl.obolibrary.org/obo/NCBITaxon_310911	Amdoparvovirus	http://purl.obolibrary.org/obo/NCBITaxon_40119	Parvovirinae		
http://purl.obolibrary.org/obo/NCBITaxon_40121	Erythroparvovirus	http://purl.obolibrary.org/obo/NCBITaxon_40119	Parvovirinae		
http://purl.obolibrary.org/obo/NCBITaxon_157540	Zygodontomys	http://purl.obolibrary.org/obo/NCBITaxon_40141	Sigmodontinae		
http://purl.obolibrary.org/obo/NCBITaxon_29105	Calomys	http://purl.obolibrary.org/obo/NCBITaxon_40141	Sigmodontinae		
http://purl.obolibrary.org/obo/NCBITaxon_29120	Oligoryzomys	http://purl.obolibrary.org/obo/NCBITaxon_40141	Sigmodontinae		
http://purl.obolibrary.org/obo/NCBITaxon_29122	Oryzomys	http://purl.obolibrary.org/obo/NCBITaxon_40141	Sigmodontinae		
http://purl.obolibrary.org/obo/NCBITaxon_42414	Sigmodon	http://purl.obolibrary.org/obo/NCBITaxon_40141	Sigmodontinae		
http://purl.obolibrary.org/obo/NCBITaxon_431037	unclassified Roseolovirus	http://purl.obolibrary.org/obo/NCBITaxon_40272	Roseolovirus		
http://purl.obolibrary.org/obo/NCBITaxon_3050298	Roseolovirus humanbeta7	http://purl.obolibrary.org/obo/NCBITaxon_40272	Roseolovirus		
http://purl.obolibrary.org/obo/NCBITaxon_3050297	Roseolovirus humanbeta6b	http://purl.obolibrary.org/obo/NCBITaxon_40272	Roseolovirus		
http://purl.obolibrary.org/obo/NCBITaxon_32525	Theria <mammals>	http://purl.obolibrary.org/obo/NCBITaxon_40674	Mammalia		
http://purl.obolibrary.org/obo/NCBITaxon_4070	Solanaceae	http://purl.obolibrary.org/obo/NCBITaxon_4069	Solanales		
http://purl.obolibrary.org/obo/NCBITaxon_424551	Solanoideae	http://purl.obolibrary.org/obo/NCBITaxon_4070	Solanaceae		
http://purl.obolibrary.org/obo/NCBITaxon_49274	Solanum subgen. Lycopersicon	http://purl.obolibrary.org/obo/NCBITaxon_4107	Solanum		
http://purl.obolibrary.org/obo/NCBITaxon_32443	Teleostei	http://purl.obolibrary.org/obo/NCBITaxon_41665	Neopterygii		
http://purl.obolibrary.org/obo/NCBITaxon_5597	Scedosporium boydii	http://purl.obolibrary.org/obo/NCBITaxon_41687	Scedosporium		
http://purl.obolibrary.org/obo/NCBITaxon_8006	Salmoniformes	http://purl.obolibrary.org/obo/NCBITaxon_41705	Protacanthopterygii		
http://purl.obolibrary.org/obo/NCBITaxon_36330	Plasmodium ovale	http://purl.obolibrary.org/obo/NCBITaxon_418103	Plasmodium (Plasmodium)		
http://purl.obolibrary.org/obo/NCBITaxon_5855	Plasmodium vivax	http://purl.obolibrary.org/obo/NCBITaxon_418103	Plasmodium (Plasmodium)		
http://purl.obolibrary.org/obo/NCBITaxon_5833	Plasmodium falciparum	http://purl.obolibrary.org/obo/NCBITaxon_418107	Plasmodium (Laverania)		
http://purl.obolibrary.org/obo/NCBITaxon_43801	Ceratopogoninae	http://purl.obolibrary.org/obo/NCBITaxon_41819	Ceratopogonidae		
http://purl.obolibrary.org/obo/NCBITaxon_7157	Culicidae	http://purl.obolibrary.org/obo/NCBITaxon_41827	Culicoidea		
http://purl.obolibrary.org/obo/NCBITaxon_41819	Ceratopogonidae	http://purl.obolibrary.org/obo/NCBITaxon_41828	Chironomoidea		
http://purl.obolibrary.org/obo/NCBITaxon_7197	Psychodidae	http://purl.obolibrary.org/obo/NCBITaxon_41831	Psychodoidea		
http://purl.obolibrary.org/obo/NCBITaxon_23513	Rutaceae	http://purl.obolibrary.org/obo/NCBITaxon_41937	Sapindales		
http://purl.obolibrary.org/obo/NCBITaxon_5819	Haemosporida	http://purl.obolibrary.org/obo/NCBITaxon_422676	Aconoidasida		
http://purl.obolibrary.org/obo/NCBITaxon_5863	Piroplasmida	http://purl.obolibrary.org/obo/NCBITaxon_422676	Aconoidasida		
http://purl.obolibrary.org/obo/NCBITaxon_5809	Sarcocystidae	http://purl.obolibrary.org/obo/NCBITaxon_423054	Eimeriorina		
http://purl.obolibrary.org/obo/NCBITaxon_35082	Cryptosporidiidae	http://purl.obolibrary.org/obo/NCBITaxon_423054	Eimeriorina		
http://purl.obolibrary.org/obo/NCBITaxon_42408	Neotoma albigula	http://purl.obolibrary.org/obo/NCBITaxon_42407	Neotoma		
http://purl.obolibrary.org/obo/NCBITaxon_134742	Sigmodon alstoni	http://purl.obolibrary.org/obo/NCBITaxon_42414	Sigmodon		
http://purl.obolibrary.org/obo/NCBITaxon_42415	Sigmodon hispidus	http://purl.obolibrary.org/obo/NCBITaxon_42414	Sigmodon		
http://purl.obolibrary.org/obo/NCBITaxon_424574	Solaneae	http://purl.obolibrary.org/obo/NCBITaxon_424551	Solanoideae		
http://purl.obolibrary.org/obo/NCBITaxon_4107	Solanum	http://purl.obolibrary.org/obo/NCBITaxon_424574	Solaneae		
http://purl.obolibrary.org/obo/NCBITaxon_34625	Hyalomma	http://purl.obolibrary.org/obo/NCBITaxon_426438	Hyalomminae		
http://purl.obolibrary.org/obo/NCBITaxon_34622	Haemaphysalis	http://purl.obolibrary.org/obo/NCBITaxon_426439	Haemaphysalinae		
http://purl.obolibrary.org/obo/NCBITaxon_6942	Amblyomma	http://purl.obolibrary.org/obo/NCBITaxon_426441	Amblyomminae		
http://purl.obolibrary.org/obo/NCBITaxon_6944	Ixodes	http://purl.obolibrary.org/obo/NCBITaxon_426442	Ixodinae		
http://purl.obolibrary.org/obo/NCBITaxon_127007	Rhipicephalus pumilio	http://purl.obolibrary.org/obo/NCBITaxon_426455	Rhipicephalus <subgenus>		
http://purl.obolibrary.org/obo/NCBITaxon_578835	Rhipicephalus sanguineus group	http://purl.obolibrary.org/obo/NCBITaxon_426455	Rhipicephalus <subgenus>		
http://purl.obolibrary.org/obo/NCBITaxon_10368	Human betaherpesvirus 6	http://purl.obolibrary.org/obo/NCBITaxon_431037	unclassified Roseolovirus		
http://purl.obolibrary.org/obo/NCBITaxon_5600	Phialophora	http://purl.obolibrary.org/obo/NCBITaxon_43219	Herpotrichiellaceae		
http://purl.obolibrary.org/obo/NCBITaxon_66225	Phaeoannellomyces	http://purl.obolibrary.org/obo/NCBITaxon_43219	Herpotrichiellaceae		
http://purl.obolibrary.org/obo/NCBITaxon_5583	Exophiala	http://purl.obolibrary.org/obo/NCBITaxon_43219	Herpotrichiellaceae		
http://purl.obolibrary.org/obo/NCBITaxon_5587	Rhinocladiella	http://purl.obolibrary.org/obo/NCBITaxon_43219	Herpotrichiellaceae		
http://purl.obolibrary.org/obo/NCBITaxon_82105	Cladophialophora	http://purl.obolibrary.org/obo/NCBITaxon_43219	Herpotrichiellaceae		
http://purl.obolibrary.org/obo/NCBITaxon_40354	Fonsecaea	http://purl.obolibrary.org/obo/NCBITaxon_43219	Herpotrichiellaceae		
http://purl.obolibrary.org/obo/NCBITaxon_436489	Saurischia	http://purl.obolibrary.org/obo/NCBITaxon_436486	Dinosauria		
http://purl.obolibrary.org/obo/NCBITaxon_436491	Theropoda	http://purl.obolibrary.org/obo/NCBITaxon_436489	Saurischia		
http://purl.obolibrary.org/obo/NCBITaxon_436492	Coelurosauria	http://purl.obolibrary.org/obo/NCBITaxon_436491	Theropoda		
http://purl.obolibrary.org/obo/NCBITaxon_8782	Aves	http://purl.obolibrary.org/obo/NCBITaxon_436492	Coelurosauria		
http://purl.obolibrary.org/obo/NCBITaxon_480118	Eremoneura	http://purl.obolibrary.org/obo/NCBITaxon_43733	Muscomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_1262365	Tabanoidea	http://purl.obolibrary.org/obo/NCBITaxon_43735	Tabanomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_43741	Acalyptratae	http://purl.obolibrary.org/obo/NCBITaxon_43738	Schizophora		
http://purl.obolibrary.org/obo/NCBITaxon_43750	Sciomyzoidea	http://purl.obolibrary.org/obo/NCBITaxon_43741	Acalyptratae		
http://purl.obolibrary.org/obo/NCBITaxon_169440	Coelopidae	http://purl.obolibrary.org/obo/NCBITaxon_43750	Sciomyzoidea		
http://purl.obolibrary.org/obo/NCBITaxon_41827	Culicoidea	http://purl.obolibrary.org/obo/NCBITaxon_43786	Culicomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_41828	Chironomoidea	http://purl.obolibrary.org/obo/NCBITaxon_43786	Culicomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_41831	Psychodoidea	http://purl.obolibrary.org/obo/NCBITaxon_43787	Psychodomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_58262	Culicoidini	http://purl.obolibrary.org/obo/NCBITaxon_43801	Ceratopogoninae		
http://purl.obolibrary.org/obo/NCBITaxon_1056966	Aedini	http://purl.obolibrary.org/obo/NCBITaxon_43817	Culicinae		
http://purl.obolibrary.org/obo/NCBITaxon_53549	Sabethini	http://purl.obolibrary.org/obo/NCBITaxon_43817	Culicinae		
http://purl.obolibrary.org/obo/NCBITaxon_53550	Culicini	http://purl.obolibrary.org/obo/NCBITaxon_43817	Culicinae		
http://purl.obolibrary.org/obo/NCBITaxon_59848	Chrysopsini	http://purl.obolibrary.org/obo/NCBITaxon_43920	Chrysopsinae		
http://purl.obolibrary.org/obo/NCBITaxon_4753	Pneumocystis	http://purl.obolibrary.org/obo/NCBITaxon_44281	Pneumocystaceae		
http://purl.obolibrary.org/obo/NCBITaxon_445	Legionella	http://purl.obolibrary.org/obo/NCBITaxon_444	Legionellaceae		
http://purl.obolibrary.org/obo/NCBITaxon_1437197	Petrosaviidae	http://purl.obolibrary.org/obo/NCBITaxon_4447	Liliopsida		
http://purl.obolibrary.org/obo/NCBITaxon_446	Legionella pneumophila	http://purl.obolibrary.org/obo/NCBITaxon_445	Legionella		
http://purl.obolibrary.org/obo/NCBITaxon_44537	Pyretophorus	http://purl.obolibrary.org/obo/NCBITaxon_44534	Cellia		
http://purl.obolibrary.org/obo/NCBITaxon_59140	Myzomyia	http://purl.obolibrary.org/obo/NCBITaxon_44534	Cellia		
http://purl.obolibrary.org/obo/NCBITaxon_44542	gambiae species complex	http://purl.obolibrary.org/obo/NCBITaxon_44537	Pyretophorus		
http://purl.obolibrary.org/obo/NCBITaxon_7165	Anopheles gambiae	http://purl.obolibrary.org/obo/NCBITaxon_44542	gambiae species complex		
http://purl.obolibrary.org/obo/NCBITaxon_29031	Phlebotomus papatasi	http://purl.obolibrary.org/obo/NCBITaxon_44556	Phlebotomus <subgenus>		
http://purl.obolibrary.org/obo/NCBITaxon_447135	Myodes glareolus	http://purl.obolibrary.org/obo/NCBITaxon_447134	Myodes		
http://purl.obolibrary.org/obo/NCBITaxon_359160	BOP clade	http://purl.obolibrary.org/obo/NCBITaxon_4479	Poaceae		
http://purl.obolibrary.org/obo/NCBITaxon_4890	Ascomycota	http://purl.obolibrary.org/obo/NCBITaxon_451864	Dikarya		
http://purl.obolibrary.org/obo/NCBITaxon_5204	Basidiomycota	http://purl.obolibrary.org/obo/NCBITaxon_451864	Dikarya		
http://purl.obolibrary.org/obo/NCBITaxon_147553	Pneumocystomycetes	http://purl.obolibrary.org/obo/NCBITaxon_451866	Taphrinomycotina		
http://purl.obolibrary.org/obo/NCBITaxon_134362	Capnodiales	http://purl.obolibrary.org/obo/NCBITaxon_451867	Dothideomycetidae		
http://purl.obolibrary.org/obo/NCBITaxon_5014	Dothideales	http://purl.obolibrary.org/obo/NCBITaxon_451867	Dothideomycetidae		
http://purl.obolibrary.org/obo/NCBITaxon_2726946	Cladosporiales	http://purl.obolibrary.org/obo/NCBITaxon_451867	Dothideomycetidae		
http://purl.obolibrary.org/obo/NCBITaxon_2726947	Mycosphaerellales	http://purl.obolibrary.org/obo/NCBITaxon_451867	Dothideomycetidae		
http://purl.obolibrary.org/obo/NCBITaxon_92860	Pleosporales	http://purl.obolibrary.org/obo/NCBITaxon_451868	Pleosporomycetidae		
http://purl.obolibrary.org/obo/NCBITaxon_34395	Chaetothyriales	http://purl.obolibrary.org/obo/NCBITaxon_451870	Chaetothyriomycetidae		
http://purl.obolibrary.org/obo/NCBITaxon_33183	Onygenales	http://purl.obolibrary.org/obo/NCBITaxon_451871	Eurotiomycetidae		
http://purl.obolibrary.org/obo/NCBITaxon_5042	Eurotiales	http://purl.obolibrary.org/obo/NCBITaxon_451871	Eurotiomycetidae		
http://purl.obolibrary.org/obo/NCBITaxon_5498	Cladosporium	http://purl.obolibrary.org/obo/NCBITaxon_452563	Cladosporiaceae		
http://purl.obolibrary.org/obo/NCBITaxon_12058	Picornaviridae	http://purl.obolibrary.org/obo/NCBITaxon_464095	Picornavirales		
http://purl.obolibrary.org/obo/NCBITaxon_38820	Poales	http://purl.obolibrary.org/obo/NCBITaxon_4734	commelinids		
http://purl.obolibrary.org/obo/NCBITaxon_42068	Pneumocystis jirovecii	http://purl.obolibrary.org/obo/NCBITaxon_4753	Pneumocystis		
http://purl.obolibrary.org/obo/NCBITaxon_163158	Xenopsylla	http://purl.obolibrary.org/obo/NCBITaxon_476427	Xenopsyllinae		
http://purl.obolibrary.org/obo/NCBITaxon_43738	Schizophora	http://purl.obolibrary.org/obo/NCBITaxon_480117	Cyclorrhapha		
http://purl.obolibrary.org/obo/NCBITaxon_480117	Cyclorrhapha	http://purl.obolibrary.org/obo/NCBITaxon_480118	Eremoneura		
http://purl.obolibrary.org/obo/NCBITaxon_482	Neisseria	http://purl.obolibrary.org/obo/NCBITaxon_481	Neisseriaceae		
http://purl.obolibrary.org/obo/NCBITaxon_4081	Solanum lycopersicum	http://purl.obolibrary.org/obo/NCBITaxon_49274	Solanum subgen. Lycopersicon		
http://purl.obolibrary.org/obo/NCBITaxon_1570301	Saccotheciaceae	http://purl.obolibrary.org/obo/NCBITaxon_5014	Dothideales		
http://purl.obolibrary.org/obo/NCBITaxon_28568	Trichocomaceae	http://purl.obolibrary.org/obo/NCBITaxon_5042	Eurotiales		
http://purl.obolibrary.org/obo/NCBITaxon_1131492	Aspergillaceae	http://purl.obolibrary.org/obo/NCBITaxon_5042	Eurotiales		
http://purl.obolibrary.org/obo/NCBITaxon_8016	Oncorhynchus	http://purl.obolibrary.org/obo/NCBITaxon_504568	Salmoninae		
http://purl.obolibrary.org/obo/NCBITaxon_8028	Salmo	http://purl.obolibrary.org/obo/NCBITaxon_504568	Salmoninae		
http://purl.obolibrary.org/obo/NCBITaxon_85512	Dicondylia	http://purl.obolibrary.org/obo/NCBITaxon_50557	Insecta		
http://purl.obolibrary.org/obo/NCBITaxon_517	Bordetella	http://purl.obolibrary.org/obo/NCBITaxon_506	Alcaligenaceae		
http://purl.obolibrary.org/obo/NCBITaxon_2752537	Talaromyces sect. Talaromyces	http://purl.obolibrary.org/obo/NCBITaxon_5094	Talaromyces		
http://purl.obolibrary.org/obo/NCBITaxon_809	Chlamydiaceae	http://purl.obolibrary.org/obo/NCBITaxon_51291	Chlamydiales		
http://purl.obolibrary.org/obo/NCBITaxon_5152	Ophiostomataceae	http://purl.obolibrary.org/obo/NCBITaxon_5151	Ophiostomatales		
http://purl.obolibrary.org/obo/NCBITaxon_29907	Sporothrix	http://purl.obolibrary.org/obo/NCBITaxon_5152	Ophiostomataceae		
http://purl.obolibrary.org/obo/NCBITaxon_519	Bordetella parapertussis	http://purl.obolibrary.org/obo/NCBITaxon_517	Bordetella		
http://purl.obolibrary.org/obo/NCBITaxon_520	Bordetella pertussis	http://purl.obolibrary.org/obo/NCBITaxon_517	Bordetella		
http://purl.obolibrary.org/obo/NCBITaxon_5302	Agaricomycotina	http://purl.obolibrary.org/obo/NCBITaxon_5204	Basidiomycota		
http://purl.obolibrary.org/obo/NCBITaxon_452284	Ustilaginomycotina	http://purl.obolibrary.org/obo/NCBITaxon_5204	Basidiomycota		
http://purl.obolibrary.org/obo/NCBITaxon_526525	Erysipelotrichales	http://purl.obolibrary.org/obo/NCBITaxon_526524	Erysipelotrichia		
http://purl.obolibrary.org/obo/NCBITaxon_128827	Erysipelotrichaceae	http://purl.obolibrary.org/obo/NCBITaxon_526525	Erysipelotrichales		
http://purl.obolibrary.org/obo/NCBITaxon_155616	Tremellomycetes	http://purl.obolibrary.org/obo/NCBITaxon_5302	Agaricomycotina		
http://purl.obolibrary.org/obo/NCBITaxon_162997	Culex annulirostris	http://purl.obolibrary.org/obo/NCBITaxon_53527	Culex <subgenus>		
http://purl.obolibrary.org/obo/NCBITaxon_7178	Culex tritaeniorhynchus	http://purl.obolibrary.org/obo/NCBITaxon_53527	Culex <subgenus>		
http://purl.obolibrary.org/obo/NCBITaxon_7174	Culex <genus>	http://purl.obolibrary.org/obo/NCBITaxon_53550	Culicini		
http://purl.obolibrary.org/obo/NCBITaxon_620	Shigella	http://purl.obolibrary.org/obo/NCBITaxon_543	Enterobacteriaceae		
http://purl.obolibrary.org/obo/NCBITaxon_590	Salmonella	http://purl.obolibrary.org/obo/NCBITaxon_543	Enterobacteriaceae		
http://purl.obolibrary.org/obo/NCBITaxon_2890311	Klebsiella/Raoultella group	http://purl.obolibrary.org/obo/NCBITaxon_543	Enterobacteriaceae		
http://purl.obolibrary.org/obo/NCBITaxon_3044472	Orthoherpesviridae	http://purl.obolibrary.org/obo/NCBITaxon_548681	Herpesvirales		
http://purl.obolibrary.org/obo/NCBITaxon_5501	Coccidioides immitis	http://purl.obolibrary.org/obo/NCBITaxon_5500	Coccidioides		
http://purl.obolibrary.org/obo/NCBITaxon_5970	Exophiala dermatitidis	http://purl.obolibrary.org/obo/NCBITaxon_5583	Exophiala		
http://purl.obolibrary.org/obo/NCBITaxon_86056	Rhinocladiella mackenziei	http://purl.obolibrary.org/obo/NCBITaxon_5587	Rhinocladiella		
http://purl.obolibrary.org/obo/NCBITaxon_5593	Microascaceae	http://purl.obolibrary.org/obo/NCBITaxon_5592	Microascales		
http://purl.obolibrary.org/obo/NCBITaxon_41687	Scedosporium	http://purl.obolibrary.org/obo/NCBITaxon_5593	Microascaceae		
http://purl.obolibrary.org/obo/NCBITaxon_2704647	Metakinetoplastina	http://purl.obolibrary.org/obo/NCBITaxon_5653	Kinetoplastea		
http://purl.obolibrary.org/obo/NCBITaxon_1286322	Leishmaniinae	http://purl.obolibrary.org/obo/NCBITaxon_5654	Trypanosomatidae		
http://purl.obolibrary.org/obo/NCBITaxon_3390273	Klebsiella pneumoniae complex	http://purl.obolibrary.org/obo/NCBITaxon_570	Klebsiella		
http://purl.obolibrary.org/obo/NCBITaxon_34632	Rhipicephalus sanguineus	http://purl.obolibrary.org/obo/NCBITaxon_578835	Rhipicephalus sanguineus group		
http://purl.obolibrary.org/obo/NCBITaxon_1280412	Conoidasida	http://purl.obolibrary.org/obo/NCBITaxon_5794	Apicomplexa		
http://purl.obolibrary.org/obo/NCBITaxon_422676	Aconoidasida	http://purl.obolibrary.org/obo/NCBITaxon_5794	Apicomplexa		
http://purl.obolibrary.org/obo/NCBITaxon_75739	Eucoccidiorida	http://purl.obolibrary.org/obo/NCBITaxon_5796	Coccidia		
http://purl.obolibrary.org/obo/NCBITaxon_78536	Euphyllophyta	http://purl.obolibrary.org/obo/NCBITaxon_58023	Tracheophyta		
http://purl.obolibrary.org/obo/NCBITaxon_3398	Magnoliopsida	http://purl.obolibrary.org/obo/NCBITaxon_58024	Spermatophyta		
http://purl.obolibrary.org/obo/NCBITaxon_5810	Toxoplasma	http://purl.obolibrary.org/obo/NCBITaxon_5809	Sarcocystidae		
http://purl.obolibrary.org/obo/NCBITaxon_1639119	Plasmodiidae	http://purl.obolibrary.org/obo/NCBITaxon_5819	Haemosporida		
http://purl.obolibrary.org/obo/NCBITaxon_41820	Culicoides <genus>	http://purl.obolibrary.org/obo/NCBITaxon_58262	Culicoidini		
http://purl.obolibrary.org/obo/NCBITaxon_59142	funestus group	http://purl.obolibrary.org/obo/NCBITaxon_59140	Myzomyia		
http://purl.obolibrary.org/obo/NCBITaxon_62324	Anopheles funestus	http://purl.obolibrary.org/obo/NCBITaxon_59142	funestus group		
http://purl.obolibrary.org/obo/NCBITaxon_36734	Unikaryonidae	http://purl.obolibrary.org/obo/NCBITaxon_6032	Apansporoblastina		
http://purl.obolibrary.org/obo/NCBITaxon_33213	Bilateria	http://purl.obolibrary.org/obo/NCBITaxon_6072	Eumetazoa		
http://purl.obolibrary.org/obo/NCBITaxon_6199	Cestoda	http://purl.obolibrary.org/obo/NCBITaxon_6157	Platyhelminthes		
http://purl.obolibrary.org/obo/NCBITaxon_6178	Trematoda	http://purl.obolibrary.org/obo/NCBITaxon_6157	Platyhelminthes		
http://purl.obolibrary.org/obo/NCBITaxon_6200	Eucestoda	http://purl.obolibrary.org/obo/NCBITaxon_6199	Cestoda		
http://purl.obolibrary.org/obo/NCBITaxon_621	Shigella boydii	http://purl.obolibrary.org/obo/NCBITaxon_620	Shigella		
http://purl.obolibrary.org/obo/NCBITaxon_622	Shigella dysenteriae	http://purl.obolibrary.org/obo/NCBITaxon_620	Shigella		
http://purl.obolibrary.org/obo/NCBITaxon_623	Shigella flexneri	http://purl.obolibrary.org/obo/NCBITaxon_620	Shigella		
http://purl.obolibrary.org/obo/NCBITaxon_624	Shigella sonnei	http://purl.obolibrary.org/obo/NCBITaxon_620	Shigella		
http://purl.obolibrary.org/obo/NCBITaxon_6201	Cyclophyllidea	http://purl.obolibrary.org/obo/NCBITaxon_6200	Eucestoda		
http://purl.obolibrary.org/obo/NCBITaxon_1224679	Diphyllobothriidea	http://purl.obolibrary.org/obo/NCBITaxon_6200	Eucestoda		
http://purl.obolibrary.org/obo/NCBITaxon_6208	Taeniidae	http://purl.obolibrary.org/obo/NCBITaxon_6201	Cyclophyllidea		
http://purl.obolibrary.org/obo/NCBITaxon_6204	Taenia solium	http://purl.obolibrary.org/obo/NCBITaxon_6202	Taenia		
http://purl.obolibrary.org/obo/NCBITaxon_6206	Taenia saginata	http://purl.obolibrary.org/obo/NCBITaxon_6202	Taenia		
http://purl.obolibrary.org/obo/NCBITaxon_6202	Taenia	http://purl.obolibrary.org/obo/NCBITaxon_6208	Taeniidae		
http://purl.obolibrary.org/obo/NCBITaxon_6209	Echinococcus	http://purl.obolibrary.org/obo/NCBITaxon_6208	Taeniidae		
http://purl.obolibrary.org/obo/NCBITaxon_119088	Enoplea	http://purl.obolibrary.org/obo/NCBITaxon_6231	Nematoda		
http://purl.obolibrary.org/obo/NCBITaxon_119089	Chromadorea	http://purl.obolibrary.org/obo/NCBITaxon_6231	Nematoda		
http://purl.obolibrary.org/obo/NCBITaxon_33256	Ascaridoidea	http://purl.obolibrary.org/obo/NCBITaxon_6249	Ascaridomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_6268	Anisakis	http://purl.obolibrary.org/obo/NCBITaxon_6267	Anisakidae		
http://purl.obolibrary.org/obo/NCBITaxon_6270	Pseudoterranova	http://purl.obolibrary.org/obo/NCBITaxon_6267	Anisakidae		
http://purl.obolibrary.org/obo/NCBITaxon_644710	Anisakis simplex complex	http://purl.obolibrary.org/obo/NCBITaxon_6268	Anisakis		
http://purl.obolibrary.org/obo/NCBITaxon_1649845	Yersinia pseudotuberculosis complex	http://purl.obolibrary.org/obo/NCBITaxon_629	Yersinia <enterobacteria>		
http://purl.obolibrary.org/obo/NCBITaxon_455381	Capillariidae	http://purl.obolibrary.org/obo/NCBITaxon_6329	Trichinellida		
http://purl.obolibrary.org/obo/NCBITaxon_119093	Trichuridae	http://purl.obolibrary.org/obo/NCBITaxon_6329	Trichinellida		
http://purl.obolibrary.org/obo/NCBITaxon_6332	Trichinellidae	http://purl.obolibrary.org/obo/NCBITaxon_6329	Trichinellida		
http://purl.obolibrary.org/obo/NCBITaxon_63672	Turbo	http://purl.obolibrary.org/obo/NCBITaxon_63671	Turbinidae		
http://purl.obolibrary.org/obo/NCBITaxon_133423	Batillus	http://purl.obolibrary.org/obo/NCBITaxon_63672	Turbo		
http://purl.obolibrary.org/obo/NCBITaxon_6448	Gastropoda	http://purl.obolibrary.org/obo/NCBITaxon_6447	Mollusca		
http://purl.obolibrary.org/obo/NCBITaxon_216275	Vetigastropoda	http://purl.obolibrary.org/obo/NCBITaxon_6448	Gastropoda		
http://purl.obolibrary.org/obo/NCBITaxon_139	Borreliella burgdorferi	http://purl.obolibrary.org/obo/NCBITaxon_64895	Borreliella		
http://purl.obolibrary.org/obo/NCBITaxon_197563	Mandibulata	http://purl.obolibrary.org/obo/NCBITaxon_6656	Arthropoda		
http://purl.obolibrary.org/obo/NCBITaxon_6843	Chelicerata	http://purl.obolibrary.org/obo/NCBITaxon_6656	Arthropoda		
http://purl.obolibrary.org/obo/NCBITaxon_72041	Eumalacostraca	http://purl.obolibrary.org/obo/NCBITaxon_6681	Malacostraca		
http://purl.obolibrary.org/obo/NCBITaxon_6683	Decapoda	http://purl.obolibrary.org/obo/NCBITaxon_6682	Eucarida		
http://purl.obolibrary.org/obo/NCBITaxon_6684	Dendrobranchiata	http://purl.obolibrary.org/obo/NCBITaxon_6683	Decapoda		
http://purl.obolibrary.org/obo/NCBITaxon_6692	Pleocyemata	http://purl.obolibrary.org/obo/NCBITaxon_6683	Decapoda		
http://purl.obolibrary.org/obo/NCBITaxon_111520	Penaeoidea	http://purl.obolibrary.org/obo/NCBITaxon_6684	Dendrobranchiata		
http://purl.obolibrary.org/obo/NCBITaxon_133894	Penaeus	http://purl.obolibrary.org/obo/NCBITaxon_6685	Penaeidae		
http://purl.obolibrary.org/obo/NCBITaxon_6752	Brachyura	http://purl.obolibrary.org/obo/NCBITaxon_6692	Pleocyemata		
http://purl.obolibrary.org/obo/NCBITaxon_116704	Eubrachyura	http://purl.obolibrary.org/obo/NCBITaxon_6752	Brachyura		
http://purl.obolibrary.org/obo/NCBITaxon_85552	Scylla paramamosain	http://purl.obolibrary.org/obo/NCBITaxon_6760	Scylla		
http://purl.obolibrary.org/obo/NCBITaxon_6757	Portunidae	http://purl.obolibrary.org/obo/NCBITaxon_6774	Portunoidea		
http://purl.obolibrary.org/obo/NCBITaxon_6854	Arachnida	http://purl.obolibrary.org/obo/NCBITaxon_6843	Chelicerata		
http://purl.obolibrary.org/obo/NCBITaxon_6933	Acari	http://purl.obolibrary.org/obo/NCBITaxon_6854	Arachnida		
http://purl.obolibrary.org/obo/NCBITaxon_29189	Ammonia	http://purl.obolibrary.org/obo/NCBITaxon_69034	Rotaliidae		
http://purl.obolibrary.org/obo/NCBITaxon_6934	Parasitiformes	http://purl.obolibrary.org/obo/NCBITaxon_6933	Acari		
http://purl.obolibrary.org/obo/NCBITaxon_6946	Acariformes	http://purl.obolibrary.org/obo/NCBITaxon_6933	Acari		
http://purl.obolibrary.org/obo/NCBITaxon_6935	Ixodida	http://purl.obolibrary.org/obo/NCBITaxon_6934	Parasitiformes		
http://purl.obolibrary.org/obo/NCBITaxon_297308	Ixodoidea	http://purl.obolibrary.org/obo/NCBITaxon_6935	Ixodida		
http://purl.obolibrary.org/obo/NCBITaxon_140564	Ornithodoros parkeri	http://purl.obolibrary.org/obo/NCBITaxon_6937	Ornithodoros		
http://purl.obolibrary.org/obo/NCBITaxon_69826	Ornithodoros savignyi	http://purl.obolibrary.org/obo/NCBITaxon_6937	Ornithodoros		
http://purl.obolibrary.org/obo/NCBITaxon_693766	Anemiaceae	http://purl.obolibrary.org/obo/NCBITaxon_693762	Schizaeales		
http://purl.obolibrary.org/obo/NCBITaxon_426438	Hyalomminae	http://purl.obolibrary.org/obo/NCBITaxon_6939	Ixodidae		
http://purl.obolibrary.org/obo/NCBITaxon_426439	Haemaphysalinae	http://purl.obolibrary.org/obo/NCBITaxon_6939	Ixodidae		
http://purl.obolibrary.org/obo/NCBITaxon_426441	Amblyomminae	http://purl.obolibrary.org/obo/NCBITaxon_6939	Ixodidae		
http://purl.obolibrary.org/obo/NCBITaxon_426442	Ixodinae	http://purl.obolibrary.org/obo/NCBITaxon_6939	Ixodidae		
http://purl.obolibrary.org/obo/NCBITaxon_2509494	Merbecovirus	http://purl.obolibrary.org/obo/NCBITaxon_694002	Betacoronavirus		
http://purl.obolibrary.org/obo/NCBITaxon_2509511	Sarbecovirus	http://purl.obolibrary.org/obo/NCBITaxon_694002	Betacoronavirus		
http://purl.obolibrary.org/obo/NCBITaxon_2901879	Severe acute respiratory syndrome coronavirus	http://purl.obolibrary.org/obo/NCBITaxon_694009	Severe acute respiratory syndrome-related coronavirus		
http://purl.obolibrary.org/obo/NCBITaxon_34607	Amblyomma cajennense	http://purl.obolibrary.org/obo/NCBITaxon_6942	Amblyomma		
http://purl.obolibrary.org/obo/NCBITaxon_34608	Amblyomma hebraeum	http://purl.obolibrary.org/obo/NCBITaxon_6942	Amblyomma		
http://purl.obolibrary.org/obo/NCBITaxon_34609	Amblyomma maculatum	http://purl.obolibrary.org/obo/NCBITaxon_6942	Amblyomma		
http://purl.obolibrary.org/obo/NCBITaxon_34610	Amblyomma variegatum	http://purl.obolibrary.org/obo/NCBITaxon_6942	Amblyomma		
http://purl.obolibrary.org/obo/NCBITaxon_6943	Amblyomma americanum	http://purl.obolibrary.org/obo/NCBITaxon_6942	Amblyomma		
http://purl.obolibrary.org/obo/NCBITaxon_83136	Trombidiformes	http://purl.obolibrary.org/obo/NCBITaxon_6946	Acariformes		
http://purl.obolibrary.org/obo/NCBITaxon_83138	Anystina	http://purl.obolibrary.org/obo/NCBITaxon_6947	Prostigmata		
http://purl.obolibrary.org/obo/NCBITaxon_784	Orientia tsutsugamushi	http://purl.obolibrary.org/obo/NCBITaxon_69474	Orientia		
http://purl.obolibrary.org/obo/NCBITaxon_50557	Insecta	http://purl.obolibrary.org/obo/NCBITaxon_6960	Hexapoda		
http://purl.obolibrary.org/obo/NCBITaxon_713	Actinobacillus	http://purl.obolibrary.org/obo/NCBITaxon_712	Pasteurellaceae		
http://purl.obolibrary.org/obo/NCBITaxon_724	Haemophilus	http://purl.obolibrary.org/obo/NCBITaxon_712	Pasteurellaceae		
http://purl.obolibrary.org/obo/NCBITaxon_745	Pasteurella	http://purl.obolibrary.org/obo/NCBITaxon_712	Pasteurellaceae		
http://purl.obolibrary.org/obo/NCBITaxon_3650	Cucurbitaceae	http://purl.obolibrary.org/obo/NCBITaxon_71239	Cucurbitales		
http://purl.obolibrary.org/obo/NCBITaxon_91827	Gunneridae	http://purl.obolibrary.org/obo/NCBITaxon_71240	eudicotyledons		
http://purl.obolibrary.org/obo/NCBITaxon_91888	lamiids	http://purl.obolibrary.org/obo/NCBITaxon_71274	asterids		
http://purl.obolibrary.org/obo/NCBITaxon_91835	fabids	http://purl.obolibrary.org/obo/NCBITaxon_71275	rosids		
http://purl.obolibrary.org/obo/NCBITaxon_91836	malvids	http://purl.obolibrary.org/obo/NCBITaxon_71275	rosids		
http://purl.obolibrary.org/obo/NCBITaxon_7148	Nematocera	http://purl.obolibrary.org/obo/NCBITaxon_7147	Diptera		
http://purl.obolibrary.org/obo/NCBITaxon_7203	Brachycera	http://purl.obolibrary.org/obo/NCBITaxon_7147	Diptera		
http://purl.obolibrary.org/obo/NCBITaxon_43786	Culicomorpha	http://purl.obolibrary.org/obo/NCBITaxon_7148	Nematocera		
http://purl.obolibrary.org/obo/NCBITaxon_43787	Psychodomorpha	http://purl.obolibrary.org/obo/NCBITaxon_7148	Nematocera		
http://purl.obolibrary.org/obo/NCBITaxon_28556	Pleosporaceae	http://purl.obolibrary.org/obo/NCBITaxon_715340	Pleosporineae		
http://purl.obolibrary.org/obo/NCBITaxon_43816	Anophelinae	http://purl.obolibrary.org/obo/NCBITaxon_7157	Culicidae		
http://purl.obolibrary.org/obo/NCBITaxon_43817	Culicinae	http://purl.obolibrary.org/obo/NCBITaxon_7157	Culicidae		
http://purl.obolibrary.org/obo/NCBITaxon_147541	Dothideomycetes	http://purl.obolibrary.org/obo/NCBITaxon_715962	dothideomyceta		
http://purl.obolibrary.org/obo/NCBITaxon_147550	Sordariomycetes	http://purl.obolibrary.org/obo/NCBITaxon_715989	sordariomyceta		
http://purl.obolibrary.org/obo/NCBITaxon_147537	Saccharomycotina	http://purl.obolibrary.org/obo/NCBITaxon_716545	saccharomyceta		
http://purl.obolibrary.org/obo/NCBITaxon_147538	Pezizomycotina	http://purl.obolibrary.org/obo/NCBITaxon_716545	saccharomyceta		
http://purl.obolibrary.org/obo/NCBITaxon_147545	Eurotiomycetes	http://purl.obolibrary.org/obo/NCBITaxon_716546	leotiomyceta		
http://purl.obolibrary.org/obo/NCBITaxon_715962	dothideomyceta	http://purl.obolibrary.org/obo/NCBITaxon_716546	leotiomyceta		
http://purl.obolibrary.org/obo/NCBITaxon_715989	sordariomyceta	http://purl.obolibrary.org/obo/NCBITaxon_716546	leotiomyceta		
http://purl.obolibrary.org/obo/NCBITaxon_7198	Phlebotominae	http://purl.obolibrary.org/obo/NCBITaxon_7197	Psychodidae		
http://purl.obolibrary.org/obo/NCBITaxon_13203	Phlebotomus <genus>	http://purl.obolibrary.org/obo/NCBITaxon_7198	Phlebotominae		
http://purl.obolibrary.org/obo/NCBITaxon_43733	Muscomorpha	http://purl.obolibrary.org/obo/NCBITaxon_7203	Brachycera		
http://purl.obolibrary.org/obo/NCBITaxon_43735	Tabanomorpha	http://purl.obolibrary.org/obo/NCBITaxon_7203	Brachycera		
http://purl.obolibrary.org/obo/NCBITaxon_6682	Eucarida	http://purl.obolibrary.org/obo/NCBITaxon_72041	Eumalacostraca		
http://purl.obolibrary.org/obo/NCBITaxon_43920	Chrysopsinae	http://purl.obolibrary.org/obo/NCBITaxon_7205	Tabanidae		
http://purl.obolibrary.org/obo/NCBITaxon_157914	Ziziphus mauritiana	http://purl.obolibrary.org/obo/NCBITaxon_72171	Ziziphus		
http://purl.obolibrary.org/obo/NCBITaxon_3754	Prunus	http://purl.obolibrary.org/obo/NCBITaxon_721805	Amygdaleae		
http://purl.obolibrary.org/obo/NCBITaxon_3749	Malus	http://purl.obolibrary.org/obo/NCBITaxon_721813	Maleae		
http://purl.obolibrary.org/obo/NCBITaxon_34064	Francisellaceae	http://purl.obolibrary.org/obo/NCBITaxon_72273	Thiotrichales		
http://purl.obolibrary.org/obo/NCBITaxon_194	Campylobacter	http://purl.obolibrary.org/obo/NCBITaxon_72294	Campylobacteraceae		
http://purl.obolibrary.org/obo/NCBITaxon_730	[Haemophilus] ducreyi	http://purl.obolibrary.org/obo/NCBITaxon_724	Haemophilus		
http://purl.obolibrary.org/obo/NCBITaxon_747	Pasteurella multocida	http://purl.obolibrary.org/obo/NCBITaxon_745	Pasteurella		
http://purl.obolibrary.org/obo/NCBITaxon_33340	Neoptera	http://purl.obolibrary.org/obo/NCBITaxon_7496	Pterygota <insects>		
http://purl.obolibrary.org/obo/NCBITaxon_140693	Pulicomorpha	http://purl.obolibrary.org/obo/NCBITaxon_7509	Siphonaptera		
http://purl.obolibrary.org/obo/NCBITaxon_476427	Xenopsyllinae	http://purl.obolibrary.org/obo/NCBITaxon_7511	Pulicidae		
http://purl.obolibrary.org/obo/NCBITaxon_423054	Eimeriorina	http://purl.obolibrary.org/obo/NCBITaxon_75739	Eucoccidiorida		
http://purl.obolibrary.org/obo/NCBITaxon_775	Rickettsiaceae	http://purl.obolibrary.org/obo/NCBITaxon_766	Rickettsiales		
http://purl.obolibrary.org/obo/NCBITaxon_942	Anaplasmataceae	http://purl.obolibrary.org/obo/NCBITaxon_766	Rickettsiales		
http://purl.obolibrary.org/obo/NCBITaxon_106179	phagocytophilum group	http://purl.obolibrary.org/obo/NCBITaxon_768	Anaplasma		
http://purl.obolibrary.org/obo/NCBITaxon_2499399	Cornidovirineae	http://purl.obolibrary.org/obo/NCBITaxon_76804	Nidovirales		
http://purl.obolibrary.org/obo/NCBITaxon_89593	Craniata <chordates>	http://purl.obolibrary.org/obo/NCBITaxon_7711	Chordata		
http://purl.obolibrary.org/obo/NCBITaxon_773	Bartonella	http://purl.obolibrary.org/obo/NCBITaxon_772	Bartonellaceae		
http://purl.obolibrary.org/obo/NCBITaxon_38323	Bartonella henselae	http://purl.obolibrary.org/obo/NCBITaxon_773	Bartonella		
http://purl.obolibrary.org/obo/NCBITaxon_56426	Bartonella clarridgeiae	http://purl.obolibrary.org/obo/NCBITaxon_773	Bartonella		
http://purl.obolibrary.org/obo/NCBITaxon_774	Bartonella bacilliformis	http://purl.obolibrary.org/obo/NCBITaxon_773	Bartonella		
http://purl.obolibrary.org/obo/NCBITaxon_803	Bartonella quintana	http://purl.obolibrary.org/obo/NCBITaxon_773	Bartonella		
http://purl.obolibrary.org/obo/NCBITaxon_7776	Gnathostomata <vertebrates>	http://purl.obolibrary.org/obo/NCBITaxon_7742	Vertebrata <vertebrates>		
http://purl.obolibrary.org/obo/NCBITaxon_33988	Rickettsieae	http://purl.obolibrary.org/obo/NCBITaxon_775	Rickettsiaceae		
http://purl.obolibrary.org/obo/NCBITaxon_777	Coxiella burnetii	http://purl.obolibrary.org/obo/NCBITaxon_776	Coxiella <g-proteobacteria>		
http://purl.obolibrary.org/obo/NCBITaxon_117570	Teleostomi	http://purl.obolibrary.org/obo/NCBITaxon_7776	Gnathostomata <vertebrates>		
http://purl.obolibrary.org/obo/NCBITaxon_241806	Polypodiopsida	http://purl.obolibrary.org/obo/NCBITaxon_78536	Euphyllophyta		
http://purl.obolibrary.org/obo/NCBITaxon_58024	Spermatophyta	http://purl.obolibrary.org/obo/NCBITaxon_78536	Euphyllophyta		
http://purl.obolibrary.org/obo/NCBITaxon_186623	Actinopteri	http://purl.obolibrary.org/obo/NCBITaxon_7898	Actinopterygii		
http://purl.obolibrary.org/obo/NCBITaxon_30727	Cyprinoidei	http://purl.obolibrary.org/obo/NCBITaxon_7952	Cypriniformes		
http://purl.obolibrary.org/obo/NCBITaxon_2743694	Cyprininae	http://purl.obolibrary.org/obo/NCBITaxon_7953	Cyprinidae		
http://purl.obolibrary.org/obo/NCBITaxon_7955	Danio rerio	http://purl.obolibrary.org/obo/NCBITaxon_7954	Danio		
http://purl.obolibrary.org/obo/NCBITaxon_7962	Cyprinus carpio	http://purl.obolibrary.org/obo/NCBITaxon_7961	Cyprinus		
http://purl.obolibrary.org/obo/NCBITaxon_8015	Salmonidae	http://purl.obolibrary.org/obo/NCBITaxon_8006	Salmoniformes		
http://purl.obolibrary.org/obo/NCBITaxon_504568	Salmoninae	http://purl.obolibrary.org/obo/NCBITaxon_8015	Salmonidae		
http://purl.obolibrary.org/obo/NCBITaxon_8022	Oncorhynchus mykiss	http://purl.obolibrary.org/obo/NCBITaxon_8016	Oncorhynchus		
http://purl.obolibrary.org/obo/NCBITaxon_8030	Salmo salar	http://purl.obolibrary.org/obo/NCBITaxon_8028	Salmo		
http://purl.obolibrary.org/obo/NCBITaxon_1489845	Gadoidei	http://purl.obolibrary.org/obo/NCBITaxon_8043	Gadiformes		
http://purl.obolibrary.org/obo/NCBITaxon_8048	Gadus	http://purl.obolibrary.org/obo/NCBITaxon_8045	Gadidae		
http://purl.obolibrary.org/obo/NCBITaxon_8049	Gadus morhua	http://purl.obolibrary.org/obo/NCBITaxon_8048	Gadus		
http://purl.obolibrary.org/obo/NCBITaxon_119060	Burkholderiaceae	http://purl.obolibrary.org/obo/NCBITaxon_80840	Burkholderiales		
http://purl.obolibrary.org/obo/NCBITaxon_506	Alcaligenaceae	http://purl.obolibrary.org/obo/NCBITaxon_80840	Burkholderiales		
http://purl.obolibrary.org/obo/NCBITaxon_1113537	Chlamydia/Chlamydophila group	http://purl.obolibrary.org/obo/NCBITaxon_809	Chlamydiaceae		
http://purl.obolibrary.org/obo/NCBITaxon_813	Chlamydia trachomatis	http://purl.obolibrary.org/obo/NCBITaxon_810	Chlamydia		
http://purl.obolibrary.org/obo/NCBITaxon_83558	Chlamydia pneumoniae	http://purl.obolibrary.org/obo/NCBITaxon_810	Chlamydia		
http://purl.obolibrary.org/obo/NCBITaxon_83554	Chlamydia psittaci	http://purl.obolibrary.org/obo/NCBITaxon_810	Chlamydia		
http://purl.obolibrary.org/obo/NCBITaxon_89940	Cladophialophora bantiana	http://purl.obolibrary.org/obo/NCBITaxon_82105	Cladophialophora		
http://purl.obolibrary.org/obo/NCBITaxon_86049	Cladophialophora carrionii	http://purl.obolibrary.org/obo/NCBITaxon_82105	Cladophialophora		
http://purl.obolibrary.org/obo/NCBITaxon_1338369	Dipnotetrapodomorpha	http://purl.obolibrary.org/obo/NCBITaxon_8287	Sarcopterygii		
http://purl.obolibrary.org/obo/NCBITaxon_6947	Prostigmata	http://purl.obolibrary.org/obo/NCBITaxon_83136	Trombidiformes		
http://purl.obolibrary.org/obo/NCBITaxon_83141	Parasitengona	http://purl.obolibrary.org/obo/NCBITaxon_83138	Anystina		
http://purl.obolibrary.org/obo/NCBITaxon_92088	Trombiculoidea	http://purl.obolibrary.org/obo/NCBITaxon_83141	Parasitengona		
http://purl.obolibrary.org/obo/NCBITaxon_32561	Sauria	http://purl.obolibrary.org/obo/NCBITaxon_8457	Sauropsida		
http://purl.obolibrary.org/obo/NCBITaxon_436486	Dinosauria	http://purl.obolibrary.org/obo/NCBITaxon_8492	Archosauria		
http://purl.obolibrary.org/obo/NCBITaxon_1653	Corynebacteriaceae	http://purl.obolibrary.org/obo/NCBITaxon_85007	Mycobacteriales		
http://purl.obolibrary.org/obo/NCBITaxon_1762	Mycobacteriaceae	http://purl.obolibrary.org/obo/NCBITaxon_85007	Mycobacteriales		
http://purl.obolibrary.org/obo/NCBITaxon_85025	Nocardiaceae	http://purl.obolibrary.org/obo/NCBITaxon_85007	Mycobacteriales		
http://purl.obolibrary.org/obo/NCBITaxon_31957	Propionibacteriaceae	http://purl.obolibrary.org/obo/NCBITaxon_85009	Propionibacteriales		
http://purl.obolibrary.org/obo/NCBITaxon_1817	Nocardia	http://purl.obolibrary.org/obo/NCBITaxon_85025	Nocardiaceae		
http://purl.obolibrary.org/obo/NCBITaxon_7496	Pterygota <insects>	http://purl.obolibrary.org/obo/NCBITaxon_85512	Dicondylia		
http://purl.obolibrary.org/obo/NCBITaxon_30005	Anoplura	http://purl.obolibrary.org/obo/NCBITaxon_85819	Phthiraptera		
http://purl.obolibrary.org/obo/NCBITaxon_10090	Mus musculus	http://purl.obolibrary.org/obo/NCBITaxon_862507	Mus <subgenus>		
http://purl.obolibrary.org/obo/NCBITaxon_1392	Bacillus anthracis	http://purl.obolibrary.org/obo/NCBITaxon_86661	Bacillus cereus group		
http://purl.obolibrary.org/obo/NCBITaxon_8825	Neognathae	http://purl.obolibrary.org/obo/NCBITaxon_8782	Aves		
http://purl.obolibrary.org/obo/NCBITaxon_1549675	Galloanserae	http://purl.obolibrary.org/obo/NCBITaxon_8825	Neognathae		
http://purl.obolibrary.org/obo/NCBITaxon_6656	Arthropoda	http://purl.obolibrary.org/obo/NCBITaxon_88770	Panarthropoda		
http://purl.obolibrary.org/obo/NCBITaxon_7742	Vertebrata <vertebrates>	http://purl.obolibrary.org/obo/NCBITaxon_89593	Craniata <chordates>		
http://purl.obolibrary.org/obo/NCBITaxon_9005	Phasianidae	http://purl.obolibrary.org/obo/NCBITaxon_8976	Galliformes		
http://purl.obolibrary.org/obo/NCBITaxon_12066	Coxsackievirus	http://purl.obolibrary.org/obo/NCBITaxon_90010	unclassified Enterovirus		
http://purl.obolibrary.org/obo/NCBITaxon_33758	Echovirus	http://purl.obolibrary.org/obo/NCBITaxon_90010	unclassified Enterovirus		
http://purl.obolibrary.org/obo/NCBITaxon_9072	Phasianinae	http://purl.obolibrary.org/obo/NCBITaxon_9005	Phasianidae		
http://purl.obolibrary.org/obo/NCBITaxon_9031	Gallus gallus	http://purl.obolibrary.org/obo/NCBITaxon_9030	Gallus		
http://purl.obolibrary.org/obo/NCBITaxon_9030	Gallus	http://purl.obolibrary.org/obo/NCBITaxon_9072	Phasianinae		
http://purl.obolibrary.org/obo/NCBITaxon_1279	Staphylococcus	http://purl.obolibrary.org/obo/NCBITaxon_90964	Staphylococcaceae		
http://purl.obolibrary.org/obo/NCBITaxon_1385	Bacillales	http://purl.obolibrary.org/obo/NCBITaxon_91061	Bacilli		
http://purl.obolibrary.org/obo/NCBITaxon_186826	Lactobacillales	http://purl.obolibrary.org/obo/NCBITaxon_91061	Bacilli		
http://purl.obolibrary.org/obo/NCBITaxon_543	Enterobacteriaceae	http://purl.obolibrary.org/obo/NCBITaxon_91347	Enterobacterales		
http://purl.obolibrary.org/obo/NCBITaxon_1903411	Yersiniaceae	http://purl.obolibrary.org/obo/NCBITaxon_91347	Enterobacterales		
http://purl.obolibrary.org/obo/NCBITaxon_9845	Ruminantia	http://purl.obolibrary.org/obo/NCBITaxon_91561	Artiodactyla		
http://purl.obolibrary.org/obo/NCBITaxon_1437201	Pentapetalae	http://purl.obolibrary.org/obo/NCBITaxon_91827	Gunneridae		
http://purl.obolibrary.org/obo/NCBITaxon_3744	Rosales	http://purl.obolibrary.org/obo/NCBITaxon_91835	fabids		
http://purl.obolibrary.org/obo/NCBITaxon_71239	Cucurbitales	http://purl.obolibrary.org/obo/NCBITaxon_91835	fabids		
http://purl.obolibrary.org/obo/NCBITaxon_3646	Malpighiales	http://purl.obolibrary.org/obo/NCBITaxon_91835	fabids		
http://purl.obolibrary.org/obo/NCBITaxon_41937	Sapindales	http://purl.obolibrary.org/obo/NCBITaxon_91836	malvids		
http://purl.obolibrary.org/obo/NCBITaxon_4069	Solanales	http://purl.obolibrary.org/obo/NCBITaxon_91888	lamiids		
http://purl.obolibrary.org/obo/NCBITaxon_92251	Trombiculidae	http://purl.obolibrary.org/obo/NCBITaxon_92088	Trombiculoidea		
http://purl.obolibrary.org/obo/NCBITaxon_279271	Leptotrombidium	http://purl.obolibrary.org/obo/NCBITaxon_92251	Trombiculidae		
http://purl.obolibrary.org/obo/NCBITaxon_715340	Pleosporineae	http://purl.obolibrary.org/obo/NCBITaxon_92860	Pleosporales		
http://purl.obolibrary.org/obo/NCBITaxon_1437010	Boreoeutheria	http://purl.obolibrary.org/obo/NCBITaxon_9347	Eutheria		
http://purl.obolibrary.org/obo/NCBITaxon_768	Anaplasma	http://purl.obolibrary.org/obo/NCBITaxon_942	Anaplasmataceae		
http://purl.obolibrary.org/obo/NCBITaxon_943	Ehrlichia	http://purl.obolibrary.org/obo/NCBITaxon_942	Anaplasmataceae		
http://purl.obolibrary.org/obo/NCBITaxon_106178	canis group	http://purl.obolibrary.org/obo/NCBITaxon_943	Ehrlichia		
http://purl.obolibrary.org/obo/NCBITaxon_35500	Pecora	http://purl.obolibrary.org/obo/NCBITaxon_9845	Ruminantia		
http://purl.obolibrary.org/obo/NCBITaxon_27592	Bovinae	http://purl.obolibrary.org/obo/NCBITaxon_9895	Bovidae		
http://purl.obolibrary.org/obo/NCBITaxon_9963	Caprinae	http://purl.obolibrary.org/obo/NCBITaxon_9895	Bovidae		
http://purl.obolibrary.org/obo/NCBITaxon_9913	Bos taurus	http://purl.obolibrary.org/obo/NCBITaxon_9903	Bos		
http://purl.obolibrary.org/obo/NCBITaxon_9925	Capra hircus	http://purl.obolibrary.org/obo/NCBITaxon_9922	Capra		
http://purl.obolibrary.org/obo/NCBITaxon_9922	Capra	http://purl.obolibrary.org/obo/NCBITaxon_9963	Caprinae		
http://purl.obolibrary.org/obo/NCBITaxon_1963758	Myomorpha	http://purl.obolibrary.org/obo/NCBITaxon_9989	Rodentia		
http://purl.obolibrary.org/obo/UBERON_0001301	epididymis	http://purl.obolibrary.org/obo/UBERON_0005904	duct of male reproductive system		
http://purl.obolibrary.org/obo/UBERON_0002394	bile duct	http://purl.obolibrary.org/obo/UBERON_0004119	endoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0000117	respiratory tube	http://purl.obolibrary.org/obo/UBERON_0000025	tube		
http://purl.obolibrary.org/obo/UBERON_0003914	epithelial tube	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0006555	excretory tube	http://purl.obolibrary.org/obo/UBERON_0000025	tube		
http://purl.obolibrary.org/obo/UBERON_0004708	paired limb/fin	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0000977	pleura	http://purl.obolibrary.org/obo/UBERON_0000042	serous membrane		
http://purl.obolibrary.org/obo/UBERON_0002358	peritoneum	http://purl.obolibrary.org/obo/UBERON_0000042	serous membrane		
http://purl.obolibrary.org/obo/UBERON_0001297	serosa of uterus	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0002095	mesentery	http://purl.obolibrary.org/obo/UBERON_0000042	serous membrane		
http://purl.obolibrary.org/obo/UBERON_0001714	cranial ganglion	http://purl.obolibrary.org/obo/UBERON_0000045	ganglion		
http://purl.obolibrary.org/obo/UBERON_0001800	sensory ganglion	http://purl.obolibrary.org/obo/UBERON_0000045	ganglion		
http://purl.obolibrary.org/obo/UBERON_0001981	blood vessel	http://purl.obolibrary.org/obo/UBERON_0000055	vessel		
http://purl.obolibrary.org/obo/UBERON_0005985	coronary vessel	http://purl.obolibrary.org/obo/UBERON_0000055	vessel		
http://purl.obolibrary.org/obo/UBERON_0010523	microcirculatory vessel	http://purl.obolibrary.org/obo/UBERON_0000055	vessel		
http://purl.obolibrary.org/obo/UBERON_0001765	mammary duct	http://purl.obolibrary.org/obo/UBERON_0003914	epithelial tube		
http://purl.obolibrary.org/obo/UBERON_0003928	digestive system duct	http://purl.obolibrary.org/obo/UBERON_0000058	duct		
http://purl.obolibrary.org/obo/UBERON_0005904	duct of male reproductive system	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0006553	renal duct	http://purl.obolibrary.org/obo/UBERON_0000058	duct		
http://purl.obolibrary.org/obo/UBERON_0001811	conjunctiva	http://purl.obolibrary.org/obo/UBERON_0000060	anatomical wall		
http://purl.obolibrary.org/obo/UBERON_0016435	chest wall	http://purl.obolibrary.org/obo/UBERON_0000060	anatomical wall		
http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0000045	ganglion	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0003037	septum	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0003102	surface structure	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0004119	endoderm-derived structure	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0005090	muscle structure	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0005162	multi cell part structure	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0005389	transparent eye structure	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0007651	anatomical junction	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0009856	sac	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0010000	multicellular anatomical structure	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0010313	neural crest-derived structure	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0034768	morphological feature	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0000020	sense organ	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0000955	brain	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0000997	mammalian vulva	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0001043	esophagus	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0003133	reproductive organ	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0005057	immune organ	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0000094	membrane organ	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0000171	respiration organ	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0000211	ligament	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0001630	muscle organ	http://purl.obolibrary.org/obo/UBERON_0005090	muscle structure		
http://purl.obolibrary.org/obo/UBERON_0002075	viscus	http://purl.obolibrary.org/obo/UBERON_0005177	trunk region element		
http://purl.obolibrary.org/obo/UBERON_0002097	skin of body	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0002530	gland	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0003103	compound organ	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0004177	hemopoietic organ	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0004765	skeletal element	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0005172	abdomen element	http://purl.obolibrary.org/obo/UBERON_0005173	abdominal segment element		
http://purl.obolibrary.org/obo/UBERON_0005173	abdominal segment element	http://purl.obolibrary.org/obo/UBERON_0005177	trunk region element		
http://purl.obolibrary.org/obo/UBERON_0005174	dorsal region element	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0005177	trunk region element	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0005178	thoracic cavity element	http://purl.obolibrary.org/obo/UBERON_0005181	thoracic segment organ		
http://purl.obolibrary.org/obo/UBERON_0005179	pelvic region element	http://purl.obolibrary.org/obo/UBERON_0005173	abdominal segment element		
http://purl.obolibrary.org/obo/UBERON_0005181	thoracic segment organ	http://purl.obolibrary.org/obo/UBERON_0005177	trunk region element		
http://purl.obolibrary.org/obo/UBERON_0010001	cell cluster organ	http://purl.obolibrary.org/obo/UBERON_0034922	cell cluster		
http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0035651	glans	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0000058	duct	http://purl.obolibrary.org/obo/UBERON_0000063	organ subunit		
http://purl.obolibrary.org/obo/UBERON_0001257	trigone of urinary bladder	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0001711	eyelid	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0000060	anatomical wall	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0000063	organ subunit	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0000074	renal glomerulus	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0001851	cortex	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0001862	vestibular labyrinth	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0003215	alveolus	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0003978	valve	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0006003	integumentary adnexa	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0013522	subdivision of tube	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0016526	lobe of cerebral hemisphere	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0022275	colic flexure	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0034944	zone of organ	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0001558	lower respiratory tract	http://purl.obolibrary.org/obo/UBERON_0000072	proximo-distal subdivision of respiratory tract		
http://purl.obolibrary.org/obo/UBERON_0001737	larynx	http://purl.obolibrary.org/obo/UBERON_0000072	proximo-distal subdivision of respiratory tract		
http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain	http://purl.obolibrary.org/obo/UBERON_0000481	multi-tissue structure		
http://purl.obolibrary.org/obo/UBERON_0001130	vertebral column	http://purl.obolibrary.org/obo/UBERON_0000075	subdivision of skeletal system		
http://purl.obolibrary.org/obo/UBERON_0001270	bony pelvis	http://purl.obolibrary.org/obo/UBERON_0000075	subdivision of skeletal system		
http://purl.obolibrary.org/obo/UBERON_0013118	sulcus of brain	http://purl.obolibrary.org/obo/UBERON_0000093	sulcus		
http://purl.obolibrary.org/obo/UBERON_0002360	meninx	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0002185	bronchus	http://purl.obolibrary.org/obo/UBERON_0000117	respiratory tube		
http://purl.obolibrary.org/obo/UBERON_0003126	trachea	http://purl.obolibrary.org/obo/UBERON_0000117	respiratory tube		
http://purl.obolibrary.org/obo/UBERON_0002186	bronchiole	http://purl.obolibrary.org/obo/UBERON_0000117	respiratory tube		
http://purl.obolibrary.org/obo/UBERON_0002076	cuticle of hair	http://purl.obolibrary.org/obo/UBERON_0000119	cell layer		
http://purl.obolibrary.org/obo/UBERON_0001018	axon tract	http://purl.obolibrary.org/obo/UBERON_0011215	central nervous system cell part cluster		
http://purl.obolibrary.org/obo/UBERON_0001021	nerve	http://purl.obolibrary.org/obo/UBERON_0000122	neuron projection bundle		
http://purl.obolibrary.org/obo/UBERON_0002211	nerve root	http://purl.obolibrary.org/obo/UBERON_0000122	neuron projection bundle		
http://purl.obolibrary.org/obo/UBERON_0004904	neuron projection bundle connecting eye with brain	http://purl.obolibrary.org/obo/UBERON_0000122	neuron projection bundle		
http://purl.obolibrary.org/obo/UBERON_0007418	neural decussation	http://purl.obolibrary.org/obo/UBERON_0011215	central nervous system cell part cluster		
http://purl.obolibrary.org/obo/UBERON_0034713	cranial neuron projection bundle	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0001245	anus	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0012303	ureteral orifice	http://purl.obolibrary.org/obo/UBERON_0010418	urethral opening		
http://purl.obolibrary.org/obo/UBERON_0010418	urethral opening	http://purl.obolibrary.org/obo/UBERON_0000161	orifice		
http://purl.obolibrary.org/obo/UBERON_0001158	descending colon	http://purl.obolibrary.org/obo/UBERON_0000168	proximal-distal subdivision of colon		
http://purl.obolibrary.org/obo/UBERON_0001159	sigmoid colon	http://purl.obolibrary.org/obo/UBERON_0000168	proximal-distal subdivision of colon		
http://purl.obolibrary.org/obo/UBERON_0002048	lung	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0000178	blood	http://purl.obolibrary.org/obo/UBERON_0000179	haemolymphatic fluid		
http://purl.obolibrary.org/obo/UBERON_0002391	lymph	http://purl.obolibrary.org/obo/UBERON_0000179	haemolymphatic fluid		
http://purl.obolibrary.org/obo/UBERON_0012332	broad ligament of uterus	http://purl.obolibrary.org/obo/UBERON_0000211	ligament		
http://purl.obolibrary.org/obo/UBERON_0008845	nonskeletal ligament	http://purl.obolibrary.org/obo/UBERON_0000211	ligament		
http://purl.obolibrary.org/obo/UBERON_0008846	skeletal ligament	http://purl.obolibrary.org/obo/UBERON_0000211	ligament		
http://purl.obolibrary.org/obo/UBERON_0015214	arcuate ligament	http://purl.obolibrary.org/obo/UBERON_0005181	thoracic segment organ		
http://purl.obolibrary.org/obo/UBERON_0036262	uterine ligament	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0001295	endometrium	http://purl.obolibrary.org/obo/UBERON_0019042	reproductive system mucosa		
http://purl.obolibrary.org/obo/UBERON_0001826	nasal cavity mucosa	http://purl.obolibrary.org/obo/UBERON_0004785	respiratory system mucosa		
http://purl.obolibrary.org/obo/UBERON_0003729	mouth mucosa	http://purl.obolibrary.org/obo/UBERON_0000344	mucosa		
http://purl.obolibrary.org/obo/UBERON_0004785	respiratory system mucosa	http://purl.obolibrary.org/obo/UBERON_0000344	mucosa		
http://purl.obolibrary.org/obo/UBERON_0004983	mucosa of vagina	http://purl.obolibrary.org/obo/UBERON_0019042	reproductive system mucosa		
http://purl.obolibrary.org/obo/UBERON_0019042	reproductive system mucosa	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0008230	tibialis	http://purl.obolibrary.org/obo/UBERON_0004256	hindlimb zeugopod muscle		
http://purl.obolibrary.org/obo/UBERON_0001831	parotid gland	http://purl.obolibrary.org/obo/UBERON_0012102	buccal salivary gland		
http://purl.obolibrary.org/obo/UBERON_0000179	haemolymphatic fluid	http://purl.obolibrary.org/obo/UBERON_0006314	bodily fluid		
http://purl.obolibrary.org/obo/UBERON_0006312	ocular refractive media	http://purl.obolibrary.org/obo/UBERON_0000463	organism substance		
http://purl.obolibrary.org/obo/UBERON_0006314	bodily fluid	http://purl.obolibrary.org/obo/UBERON_0000463	organism substance		
http://purl.obolibrary.org/obo/UBERON_0000167	oral cavity	http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity		
http://purl.obolibrary.org/obo/UBERON_0003691	epidural space	http://purl.obolibrary.org/obo/UBERON_0010276	space in vertebral column		
http://purl.obolibrary.org/obo/UBERON_0003693	retroperitoneal space	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0000093	sulcus	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0002224	thoracic cavity	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0010276	space in vertebral column	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0014930	perivascular space	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure	http://purl.obolibrary.org/obo/UBERON_0000465	material anatomical entity		
http://purl.obolibrary.org/obo/UBERON_0034923	disconnected anatomical group	http://purl.obolibrary.org/obo/UBERON_0000465	material anatomical entity		
http://purl.obolibrary.org/obo/UBERON_0034925	anatomical collection	http://purl.obolibrary.org/obo/UBERON_0000465	material anatomical entity		
http://purl.obolibrary.org/obo/UBERON_0000001	gross anatomical part	http://purl.obolibrary.org/obo/UBERON_0000465	material anatomical entity		
http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space	http://purl.obolibrary.org/obo/UBERON_0000466	immaterial anatomical entity		
http://purl.obolibrary.org/obo/UBERON_0000016	endocrine pancreas	http://purl.obolibrary.org/obo/UBERON_0004119	endoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0000958	medulla of organ	http://purl.obolibrary.org/obo/UBERON_0000471	compound organ component		
http://purl.obolibrary.org/obo/UBERON_0002101	limb	http://purl.obolibrary.org/obo/UBERON_0004708	paired limb/fin		
http://purl.obolibrary.org/obo/UBERON_0000026	appendage	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0001444	subdivision of head	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0001464	hip	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0005881	autopodial extension	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0008337	inguinal part of abdomen	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0009569	subdivision of trunk	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0010758	subdivision of organism along appendicular axis	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0011676	subdivision of organism along main body axis	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0002049	vasculature	http://purl.obolibrary.org/obo/UBERON_0000477	anatomical cluster		
http://purl.obolibrary.org/obo/UBERON_0002384	connective tissue	http://purl.obolibrary.org/obo/UBERON_0000479	tissue		
http://purl.obolibrary.org/obo/UBERON_0011818	superficial fascia	http://purl.obolibrary.org/obo/UBERON_0000479	tissue		
http://purl.obolibrary.org/obo/UBERON_0000483	epithelium	http://purl.obolibrary.org/obo/UBERON_0000479	tissue		
http://purl.obolibrary.org/obo/UBERON_0000957	lamina	http://purl.obolibrary.org/obo/UBERON_0000479	tissue		
http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue	http://purl.obolibrary.org/obo/UBERON_0000479	tissue		
http://purl.obolibrary.org/obo/UBERON_0010316	germ layer / neural crest	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0015757	heterogeneous tissue	http://purl.obolibrary.org/obo/UBERON_0000479	tissue		
http://purl.obolibrary.org/obo/UBERON_0002068	urachus	http://purl.obolibrary.org/obo/UBERON_0000481	multi-tissue structure		
http://purl.obolibrary.org/obo/UBERON_0002298	brainstem	http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain		
http://purl.obolibrary.org/obo/UBERON_0002407	pericardium	http://purl.obolibrary.org/obo/UBERON_0000481	multi-tissue structure		
http://purl.obolibrary.org/obo/UBERON_0000042	serous membrane	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0000073	regional part of nervous system	http://purl.obolibrary.org/obo/UBERON_0000481	multi-tissue structure		
http://purl.obolibrary.org/obo/UBERON_0000471	compound organ component	http://purl.obolibrary.org/obo/UBERON_0000481	multi-tissue structure		
http://purl.obolibrary.org/obo/UBERON_0002749	regional part of cerebellar cortex	http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain		
http://purl.obolibrary.org/obo/UBERON_0007375	roof of mouth	http://purl.obolibrary.org/obo/UBERON_0000481	multi-tissue structure		
http://purl.obolibrary.org/obo/UBERON_0000490	unilaminar epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0003244	epithelium of mammary gland	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0003843	dental epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0003929	digestive tract epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0004670	ependyma	http://purl.obolibrary.org/obo/UBERON_0010371	ecto-epithelium		
http://purl.obolibrary.org/obo/UBERON_0004819	kidney epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0005103	mesonephric epithelium	http://purl.obolibrary.org/obo/UBERON_0004819	kidney epithelium		
http://purl.obolibrary.org/obo/UBERON_0005911	endo-epithelium	http://purl.obolibrary.org/obo/UBERON_0004119	endoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0006914	squamous epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0007376	outer epithelium	http://purl.obolibrary.org/obo/UBERON_0003102	surface structure		
http://purl.obolibrary.org/obo/UBERON_0007601	ciliated epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0010371	ecto-epithelium	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0012275	meso-epithelium	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0015833	foregut epithelium	http://purl.obolibrary.org/obo/UBERON_0003929	digestive tract epithelium		
http://purl.obolibrary.org/obo/UBERON_0001136	mesothelium	http://purl.obolibrary.org/obo/UBERON_0012275	meso-epithelium		
http://purl.obolibrary.org/obo/UBERON_0002113	kidney	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0002240	spinal cord	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0004117	pharyngeal pouch	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0000487	simple squamous epithelium	http://purl.obolibrary.org/obo/UBERON_0006914	squamous epithelium		
http://purl.obolibrary.org/obo/UBERON_0003258	endoderm of foregut	http://purl.obolibrary.org/obo/UBERON_0015833	foregut epithelium		
http://purl.obolibrary.org/obo/UBERON_0000924	ectoderm	http://purl.obolibrary.org/obo/UBERON_0000923	germ layer		
http://purl.obolibrary.org/obo/UBERON_0000925	endoderm	http://purl.obolibrary.org/obo/UBERON_0000923	germ layer		
http://purl.obolibrary.org/obo/UBERON_0000926	mesoderm	http://purl.obolibrary.org/obo/UBERON_0000923	germ layer		
http://purl.obolibrary.org/obo/UBERON_0000119	cell layer	http://purl.obolibrary.org/obo/UBERON_0000957	lamina		
http://purl.obolibrary.org/obo/UBERON_0000362	renal medulla	http://purl.obolibrary.org/obo/UBERON_0000958	medulla of organ		
http://purl.obolibrary.org/obo/UBERON_0001365	sacro-iliac joint	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0002001	joint of rib	http://purl.obolibrary.org/obo/UBERON_0000982	skeletal joint		
http://purl.obolibrary.org/obo/UBERON_0002217	synovial joint	http://purl.obolibrary.org/obo/UBERON_0000982	skeletal joint		
http://purl.obolibrary.org/obo/UBERON_0008114	joint of girdle	http://purl.obolibrary.org/obo/UBERON_0000982	skeletal joint		
http://purl.obolibrary.org/obo/UBERON_0011134	nonsynovial joint	http://purl.obolibrary.org/obo/UBERON_0000982	skeletal joint		
http://purl.obolibrary.org/obo/UBERON_0000065	respiratory tract	http://purl.obolibrary.org/obo/UBERON_0001005	respiratory airway		
http://purl.obolibrary.org/obo/UBERON_0001020	nervous system commissure	http://purl.obolibrary.org/obo/UBERON_0001018	axon tract		
http://purl.obolibrary.org/obo/UBERON_0007702	tract of brain	http://purl.obolibrary.org/obo/UBERON_0001018	axon tract		
http://purl.obolibrary.org/obo/UBERON_0011591	tract of diencephalon	http://purl.obolibrary.org/obo/UBERON_0007702	tract of brain		
http://purl.obolibrary.org/obo/UBERON_0002473	intercerebral commissure	http://purl.obolibrary.org/obo/UBERON_0019294	commissure of telencephalon		
http://purl.obolibrary.org/obo/UBERON_0005970	brain commissure	http://purl.obolibrary.org/obo/UBERON_0007702	tract of brain		
http://purl.obolibrary.org/obo/UBERON_0019294	commissure of telencephalon	http://purl.obolibrary.org/obo/UBERON_0005970	brain commissure		
http://purl.obolibrary.org/obo/UBERON_0001322	sciatic nerve	http://purl.obolibrary.org/obo/UBERON_0001021	nerve		
http://purl.obolibrary.org/obo/UBERON_0035642	laryngeal nerve	http://purl.obolibrary.org/obo/UBERON_0001021	nerve		
http://purl.obolibrary.org/obo/UBERON_0001027	sensory nerve	http://purl.obolibrary.org/obo/UBERON_0001021	nerve		
http://purl.obolibrary.org/obo/UBERON_0003431	leg nerve	http://purl.obolibrary.org/obo/UBERON_0003442	hindlimb nerve		
http://purl.obolibrary.org/obo/UBERON_0003440	limb nerve	http://purl.obolibrary.org/obo/UBERON_0001021	nerve		
http://purl.obolibrary.org/obo/UBERON_0003442	hindlimb nerve	http://purl.obolibrary.org/obo/UBERON_0003440	limb nerve		
http://purl.obolibrary.org/obo/UBERON_0011779	nerve of head region	http://purl.obolibrary.org/obo/UBERON_0001021	nerve		
http://purl.obolibrary.org/obo/UBERON_0000465	material anatomical entity	http://purl.obolibrary.org/obo/UBERON_0001062	anatomy		
http://purl.obolibrary.org/obo/UBERON_0000466	immaterial anatomical entity	http://purl.obolibrary.org/obo/UBERON_0001062	anatomy		
http://purl.obolibrary.org/obo/UBERON_0003379	cardiac muscle of right atrium	http://purl.obolibrary.org/obo/UBERON_0004490	cardiac muscle tissue of atrium		
http://purl.obolibrary.org/obo/UBERON_0004490	cardiac muscle tissue of atrium	http://purl.obolibrary.org/obo/UBERON_0004493	cardiac muscle tissue of myocardium		
http://purl.obolibrary.org/obo/UBERON_0004493	cardiac muscle tissue of myocardium	http://purl.obolibrary.org/obo/UBERON_0001133	cardiac muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0010131	conducting tissue of heart	http://purl.obolibrary.org/obo/UBERON_0001133	cardiac muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0003885	mesometrium	http://purl.obolibrary.org/obo/UBERON_0002095	mesentery		
http://purl.obolibrary.org/obo/UBERON_0004256	hindlimb zeugopod muscle	http://purl.obolibrary.org/obo/UBERON_0014892	skeletal muscle organ, vertebrate		
http://purl.obolibrary.org/obo/UBERON_0012336	perianal skin	http://purl.obolibrary.org/obo/UBERON_0001415	skin of pelvis		
http://purl.obolibrary.org/obo/UBERON_0004088	orbital region	http://purl.obolibrary.org/obo/UBERON_0001444	subdivision of head		
http://purl.obolibrary.org/obo/UBERON_0019241	pedal digit 1 or 5	http://purl.obolibrary.org/obo/UBERON_0019221	digit 1 or 5		
http://purl.obolibrary.org/obo/UBERON_0002446	patella	http://purl.obolibrary.org/obo/UBERON_0011141	appendicular ossicle		
http://purl.obolibrary.org/obo/UBERON_0002428	limb bone	http://purl.obolibrary.org/obo/UBERON_0015061	limb endochondral element		
http://purl.obolibrary.org/obo/UBERON_0002513	endochondral bone	http://purl.obolibrary.org/obo/UBERON_0010363	endochondral element		
http://purl.obolibrary.org/obo/UBERON_0002514	intramembranous bone	http://purl.obolibrary.org/obo/UBERON_0001474	bone element		
http://purl.obolibrary.org/obo/UBERON_0003457	head bone	http://purl.obolibrary.org/obo/UBERON_0007914	bone of craniocervical region		
http://purl.obolibrary.org/obo/UBERON_0003460	arm bone	http://purl.obolibrary.org/obo/UBERON_0008962	forelimb bone		
http://purl.obolibrary.org/obo/UBERON_0003461	shoulder bone	http://purl.obolibrary.org/obo/UBERON_0010741	bone of pectoral complex		
http://purl.obolibrary.org/obo/UBERON_0003462	facial bone	http://purl.obolibrary.org/obo/UBERON_0003457	head bone		
http://purl.obolibrary.org/obo/UBERON_0003464	hindlimb bone	http://purl.obolibrary.org/obo/UBERON_0015022	hindlimb endochondral element		
http://purl.obolibrary.org/obo/UBERON_0003466	forelimb zeugopod bone	http://purl.obolibrary.org/obo/UBERON_0003460	arm bone		
http://purl.obolibrary.org/obo/UBERON_0003826	upper leg bone	http://purl.obolibrary.org/obo/UBERON_0005893	leg bone		
http://purl.obolibrary.org/obo/UBERON_0004247	bone of dorsum	http://purl.obolibrary.org/obo/UBERON_0005174	dorsal region element		
http://purl.obolibrary.org/obo/UBERON_0004250	upper arm bone	http://purl.obolibrary.org/obo/UBERON_0003460	arm bone		
http://purl.obolibrary.org/obo/UBERON_0004251	hindlimb zeugopod bone	http://purl.obolibrary.org/obo/UBERON_0005893	leg bone		
http://purl.obolibrary.org/obo/UBERON_0004375	bone of free limb or fin	http://purl.obolibrary.org/obo/UBERON_0010740	bone of appendage girdle complex		
http://purl.obolibrary.org/obo/UBERON_0004376	fin bone	http://purl.obolibrary.org/obo/UBERON_0001474	bone element		
http://purl.obolibrary.org/obo/UBERON_0004766	cranial bone	http://purl.obolibrary.org/obo/UBERON_0001474	bone element		
http://purl.obolibrary.org/obo/UBERON_0004768	bone of lower jaw	http://purl.obolibrary.org/obo/UBERON_0012360	bone of jaw		
http://purl.obolibrary.org/obo/UBERON_0005893	leg bone	http://purl.obolibrary.org/obo/UBERON_0003464	hindlimb bone		
http://purl.obolibrary.org/obo/UBERON_0007842	membrane bone	http://purl.obolibrary.org/obo/UBERON_0001474	bone element		
http://purl.obolibrary.org/obo/UBERON_0007914	bone of craniocervical region	http://purl.obolibrary.org/obo/UBERON_0001474	bone element		
http://purl.obolibrary.org/obo/UBERON_0008193	pneumatized bone	http://purl.obolibrary.org/obo/UBERON_0001474	bone element		
http://purl.obolibrary.org/obo/UBERON_0008202	bone of hip region	http://purl.obolibrary.org/obo/UBERON_0001474	bone element		
http://purl.obolibrary.org/obo/UBERON_0008907	dermal bone	http://purl.obolibrary.org/obo/UBERON_0007842	membrane bone		
http://purl.obolibrary.org/obo/UBERON_0010740	bone of appendage girdle complex	http://purl.obolibrary.org/obo/UBERON_0001474	bone element		
http://purl.obolibrary.org/obo/UBERON_0010741	bone of pectoral complex	http://purl.obolibrary.org/obo/UBERON_0010740	bone of appendage girdle complex		
http://purl.obolibrary.org/obo/UBERON_0010742	bone of pelvic complex	http://purl.obolibrary.org/obo/UBERON_0010740	bone of appendage girdle complex		
http://purl.obolibrary.org/obo/UBERON_0012357	digitopodium bone	http://purl.obolibrary.org/obo/UBERON_0011250	autopod bone		
http://purl.obolibrary.org/obo/UBERON_0012360	bone of jaw	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0013630	short bone	http://purl.obolibrary.org/obo/UBERON_0001474	bone element		
http://purl.obolibrary.org/obo/UBERON_0001258	neck of urinary bladder	http://purl.obolibrary.org/obo/UBERON_0001560	neck of organ		
http://purl.obolibrary.org/obo/UBERON_0003831	respiratory system muscle	http://purl.obolibrary.org/obo/UBERON_0001630	muscle organ		
http://purl.obolibrary.org/obo/UBERON_0004277	eye muscle	http://purl.obolibrary.org/obo/UBERON_0001630	muscle organ		
http://purl.obolibrary.org/obo/UBERON_0014892	skeletal muscle organ, vertebrate	http://purl.obolibrary.org/obo/UBERON_0001630	muscle organ		
http://purl.obolibrary.org/obo/UBERON_0001675	trigeminal ganglion	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0012069	epithelium-associated lymphoid tissue	http://purl.obolibrary.org/obo/UBERON_0001744	lymphoid tissue		
http://purl.obolibrary.org/obo/UBERON_0003830	thoracic segment muscle	http://purl.obolibrary.org/obo/UBERON_0014892	skeletal muscle organ, vertebrate		
http://purl.obolibrary.org/obo/UBERON_0001813	spinal nerve plexus	http://purl.obolibrary.org/obo/UBERON_0001810	nerve plexus		
http://purl.obolibrary.org/obo/UBERON_0001736	submandibular gland	http://purl.obolibrary.org/obo/UBERON_0001829	major salivary gland		
http://purl.obolibrary.org/obo/UBERON_0003496	head blood vessel	http://purl.obolibrary.org/obo/UBERON_0001981	blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003498	heart blood vessel	http://purl.obolibrary.org/obo/UBERON_0005985	coronary vessel		
http://purl.obolibrary.org/obo/UBERON_0003501	retina blood vessel	http://purl.obolibrary.org/obo/UBERON_0003496	head blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003504	respiratory system blood vessel	http://purl.obolibrary.org/obo/UBERON_0001981	blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003509	arterial blood vessel	http://purl.obolibrary.org/obo/UBERON_0001981	blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003513	trunk blood vessel	http://purl.obolibrary.org/obo/UBERON_0001981	blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003514	limb blood vessel	http://purl.obolibrary.org/obo/UBERON_0007301	appendage blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003516	hindlimb blood vessel	http://purl.obolibrary.org/obo/UBERON_0003514	limb blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003519	thoracic cavity blood vessel	http://purl.obolibrary.org/obo/UBERON_0001981	blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003834	thoracic segment blood vessel	http://purl.obolibrary.org/obo/UBERON_0003513	trunk blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003920	venous blood vessel	http://purl.obolibrary.org/obo/UBERON_0001981	blood vessel		
http://purl.obolibrary.org/obo/UBERON_0007301	appendage blood vessel	http://purl.obolibrary.org/obo/UBERON_0001981	blood vessel		
http://purl.obolibrary.org/obo/UBERON_0013768	great vessel of heart	http://purl.obolibrary.org/obo/UBERON_0001981	blood vessel		
http://purl.obolibrary.org/obo/UBERON_8410081	blood microvessel	http://purl.obolibrary.org/obo/UBERON_0010523	microcirculatory vessel		
http://purl.obolibrary.org/obo/UBERON_0002293	costochondral joint	http://purl.obolibrary.org/obo/UBERON_0002215	synchondrosis		
http://purl.obolibrary.org/obo/UBERON_0003528	brain gray matter	http://purl.obolibrary.org/obo/UBERON_0002020	gray matter		
http://purl.obolibrary.org/obo/UBERON_0007245	nuclear complex of neuraxis	http://purl.obolibrary.org/obo/UBERON_0002020	gray matter		
http://purl.obolibrary.org/obo/UBERON_0001133	cardiac muscle tissue	http://purl.obolibrary.org/obo/UBERON_8600006	visceral striated muscle tissue		
http://purl.obolibrary.org/obo/UBERON_8600006	visceral striated muscle tissue	http://purl.obolibrary.org/obo/UBERON_8600004	visceral muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0002200	vasculature of head	http://purl.obolibrary.org/obo/UBERON_0002049	vasculature		
http://purl.obolibrary.org/obo/UBERON_0002203	vasculature of eye	http://purl.obolibrary.org/obo/UBERON_0006876	vasculature of organ		
http://purl.obolibrary.org/obo/UBERON_0004864	vasculature of retina	http://purl.obolibrary.org/obo/UBERON_0036302	vasculature of central nervous system plus retina		
http://purl.obolibrary.org/obo/UBERON_0005629	vascular plexus	http://purl.obolibrary.org/obo/UBERON_0002049	vasculature		
http://purl.obolibrary.org/obo/UBERON_0006876	vasculature of organ	http://purl.obolibrary.org/obo/UBERON_0002049	vasculature		
http://purl.obolibrary.org/obo/UBERON_0036302	vasculature of central nervous system plus retina	http://purl.obolibrary.org/obo/UBERON_0002049	vasculature		
http://purl.obolibrary.org/obo/UBERON_0036303	vasculature of central nervous system	http://purl.obolibrary.org/obo/UBERON_0036302	vasculature of central nervous system plus retina		
http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure	http://purl.obolibrary.org/obo/UBERON_0005423	developing anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0017672	abdominal viscera	http://purl.obolibrary.org/obo/UBERON_0005172	abdomen element		
http://purl.obolibrary.org/obo/UBERON_0010391	parametrium	http://purl.obolibrary.org/obo/UBERON_0003885	mesometrium		
http://purl.obolibrary.org/obo/UBERON_0002085	interatrial septum	http://purl.obolibrary.org/obo/UBERON_0002099	cardiac septum		
http://purl.obolibrary.org/obo/UBERON_0002094	interventricular septum	http://purl.obolibrary.org/obo/UBERON_0002099	cardiac septum		
http://purl.obolibrary.org/obo/UBERON_0005989	atrioventricular septum	http://purl.obolibrary.org/obo/UBERON_0010313	neural crest-derived structure		
http://purl.obolibrary.org/obo/UBERON_0002134	tricuspid valve	http://purl.obolibrary.org/obo/UBERON_0005208	right atrium valve		
http://purl.obolibrary.org/obo/UBERON_0001776	optic choroid	http://purl.obolibrary.org/obo/UBERON_0002203	vasculature of eye		
http://purl.obolibrary.org/obo/UBERON_0002215	synchondrosis	http://purl.obolibrary.org/obo/UBERON_0002213	cartilaginous joint		
http://purl.obolibrary.org/obo/UBERON_0003685	cranial suture	http://purl.obolibrary.org/obo/UBERON_0009198	craniofacial suture		
http://purl.obolibrary.org/obo/UBERON_0009198	craniofacial suture	http://purl.obolibrary.org/obo/UBERON_0002209	fibrous joint		
http://purl.obolibrary.org/obo/UBERON_0009623	spinal nerve root	http://purl.obolibrary.org/obo/UBERON_0002211	nerve root		
http://purl.obolibrary.org/obo/UBERON_0011107	synovial joint of pelvic girdle	http://purl.obolibrary.org/obo/UBERON_0008114	joint of girdle		
http://purl.obolibrary.org/obo/UBERON_0001820	sweat gland	http://purl.obolibrary.org/obo/UBERON_0019319	exocrine gland of integumental system		
http://purl.obolibrary.org/obo/UBERON_0002107	liver	http://purl.obolibrary.org/obo/UBERON_0006925	digestive system gland		
http://purl.obolibrary.org/obo/UBERON_0000409	serous gland	http://purl.obolibrary.org/obo/UBERON_0002365	exocrine gland		
http://purl.obolibrary.org/obo/UBERON_0000414	mucous gland	http://purl.obolibrary.org/obo/UBERON_0002365	exocrine gland		
http://purl.obolibrary.org/obo/UBERON_0010047	oral gland	http://purl.obolibrary.org/obo/UBERON_0003408	gland of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0010243	merocrine gland	http://purl.obolibrary.org/obo/UBERON_0002365	exocrine gland		
http://purl.obolibrary.org/obo/UBERON_0012344	holocrine gland	http://purl.obolibrary.org/obo/UBERON_0002365	exocrine gland		
http://purl.obolibrary.org/obo/UBERON_0019319	exocrine gland of integumental system	http://purl.obolibrary.org/obo/UBERON_0003297	gland of integumental system		
http://purl.obolibrary.org/obo/UBERON_0001994	hyaline cartilage tissue	http://purl.obolibrary.org/obo/UBERON_0002418	cartilage tissue		
http://purl.obolibrary.org/obo/UBERON_0007771	epidermis gland	http://purl.obolibrary.org/obo/UBERON_0002530	gland		
http://purl.obolibrary.org/obo/UBERON_0008962	forelimb bone	http://purl.obolibrary.org/obo/UBERON_0015021	forelimb endochondral element		
http://purl.obolibrary.org/obo/UBERON_0011250	autopod bone	http://purl.obolibrary.org/obo/UBERON_0015063	autopod endochondral element		
http://purl.obolibrary.org/obo/UBERON_0001535	vertebral artery	http://purl.obolibrary.org/obo/UBERON_0002458	spinal artery		
http://purl.obolibrary.org/obo/UBERON_0002387	foot	http://purl.obolibrary.org/obo/UBERON_0008784	lower limb segment		
http://purl.obolibrary.org/obo/UBERON_0002398	hand	http://purl.obolibrary.org/obo/UBERON_0008785	upper limb segment		
http://purl.obolibrary.org/obo/UBERON_0002336	corpus callosum	http://purl.obolibrary.org/obo/UBERON_0005340	dorsal telencephalic commissure		
http://purl.obolibrary.org/obo/UBERON_0001677	sphenoid bone	http://purl.obolibrary.org/obo/UBERON_0015060	sphenoid endochondral element		
http://purl.obolibrary.org/obo/UBERON_0002228	rib	http://purl.obolibrary.org/obo/UBERON_0015019	rib endochondral element		
http://purl.obolibrary.org/obo/UBERON_2001364	hemal spine	http://purl.obolibrary.org/obo/UBERON_0004247	bone of dorsum		
http://purl.obolibrary.org/obo/UBERON_0002165	endocardium	http://purl.obolibrary.org/obo/UBERON_0005983	heart layer		
http://purl.obolibrary.org/obo/UBERON_0002470	autopod region	http://purl.obolibrary.org/obo/UBERON_0002529	limb segment		
http://purl.obolibrary.org/obo/UBERON_0008784	lower limb segment	http://purl.obolibrary.org/obo/UBERON_0002529	limb segment		
http://purl.obolibrary.org/obo/UBERON_0008785	upper limb segment	http://purl.obolibrary.org/obo/UBERON_0002529	limb segment		
http://purl.obolibrary.org/obo/UBERON_0001044	saliva-secreting gland	http://purl.obolibrary.org/obo/UBERON_0010047	oral gland		
http://purl.obolibrary.org/obo/UBERON_0002368	endocrine gland	http://purl.obolibrary.org/obo/UBERON_0002530	gland		
http://purl.obolibrary.org/obo/UBERON_0002365	exocrine gland	http://purl.obolibrary.org/obo/UBERON_0002530	gland		
http://purl.obolibrary.org/obo/UBERON_0002419	skin gland	http://purl.obolibrary.org/obo/UBERON_0006003	integumentary adnexa		
http://purl.obolibrary.org/obo/UBERON_0003296	gland of diencephalon	http://purl.obolibrary.org/obo/UBERON_0002530	gland		
http://purl.obolibrary.org/obo/UBERON_0003297	gland of integumental system	http://purl.obolibrary.org/obo/UBERON_0002530	gland		
http://purl.obolibrary.org/obo/UBERON_0003408	gland of digestive tract	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0003937	reproductive gland	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0004859	eye gland	http://purl.obolibrary.org/obo/UBERON_0002530	gland		
http://purl.obolibrary.org/obo/UBERON_0005058	hemolymphoid system gland	http://purl.obolibrary.org/obo/UBERON_0002530	gland		
http://purl.obolibrary.org/obo/UBERON_0006868	seminal fluid secreting gland	http://purl.obolibrary.org/obo/UBERON_0005399	male reproductive gland		
http://purl.obolibrary.org/obo/UBERON_0015152	gland of ocular region	http://purl.obolibrary.org/obo/UBERON_0002530	gland		
http://purl.obolibrary.org/obo/UBERON_0002389	finger	http://purl.obolibrary.org/obo/UBERON_0002544	digit		
http://purl.obolibrary.org/obo/UBERON_0001466	toe	http://purl.obolibrary.org/obo/UBERON_0002544	digit		
http://purl.obolibrary.org/obo/UBERON_0006048	digit 1	http://purl.obolibrary.org/obo/UBERON_0019221	digit 1 or 5		
http://purl.obolibrary.org/obo/UBERON_0019221	digit 1 or 5	http://purl.obolibrary.org/obo/UBERON_0002544	digit		
http://purl.obolibrary.org/obo/UBERON_0001707	nasal cavity	http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity		
http://purl.obolibrary.org/obo/UBERON_0001825	paranasal sinus	http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity		
http://purl.obolibrary.org/obo/UBERON_0003728	mediastinum	http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity		
http://purl.obolibrary.org/obo/UBERON_0001179	peritoneal cavity	http://purl.obolibrary.org/obo/UBERON_0035809	serous cavity		
http://purl.obolibrary.org/obo/UBERON_0002402	pleural cavity	http://purl.obolibrary.org/obo/UBERON_0035809	serous cavity		
http://purl.obolibrary.org/obo/UBERON_0004704	bone fossa	http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity		
http://purl.obolibrary.org/obo/UBERON_0004867	orbital cavity	http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity		
http://purl.obolibrary.org/obo/UBERON_0013411	cranial cavity	http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity		
http://purl.obolibrary.org/obo/UBERON_0035809	serous cavity	http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity		
http://purl.obolibrary.org/obo/UBERON_0035014	functional part of brain	http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain		
http://purl.obolibrary.org/obo/UBERON_0001898	hypothalamus	http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain		
http://purl.obolibrary.org/obo/UBERON_0005408	circumventricular organ	http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain		
http://purl.obolibrary.org/obo/UBERON_0002099	cardiac septum	http://purl.obolibrary.org/obo/UBERON_0003037	septum		
http://purl.obolibrary.org/obo/UBERON_0001833	lip	http://purl.obolibrary.org/obo/UBERON_0003102	surface structure		
http://purl.obolibrary.org/obo/UBERON_3000961	external integument structure	http://purl.obolibrary.org/obo/UBERON_0003102	surface structure		
http://purl.obolibrary.org/obo/UBERON_0000489	cavitated compound organ	http://purl.obolibrary.org/obo/UBERON_0003103	compound organ		
http://purl.obolibrary.org/obo/UBERON_0001005	respiratory airway	http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit		
http://purl.obolibrary.org/obo/UBERON_0015228	circulatory organ	http://purl.obolibrary.org/obo/UBERON_0003103	compound organ		
http://purl.obolibrary.org/obo/UBERON_0002299	alveolus of lung	http://purl.obolibrary.org/obo/UBERON_0003215	alveolus		
http://purl.obolibrary.org/obo/UBERON_0002351	sinoatrial node	http://purl.obolibrary.org/obo/UBERON_0010131	conducting tissue of heart		
http://purl.obolibrary.org/obo/UBERON_0001739	laryngeal cartilage	http://purl.obolibrary.org/obo/UBERON_0011004	pharyngeal arch cartilage		
http://purl.obolibrary.org/obo/UBERON_0001323	tibial nerve	http://purl.obolibrary.org/obo/UBERON_0003431	leg nerve		
http://purl.obolibrary.org/obo/UBERON_0001423	radius bone	http://purl.obolibrary.org/obo/UBERON_0015001	radius endochondral element		
http://purl.obolibrary.org/obo/UBERON_0004087	vena cava	http://purl.obolibrary.org/obo/UBERON_0013768	great vessel of heart		
http://purl.obolibrary.org/obo/UBERON_0001673	central retinal vein	http://purl.obolibrary.org/obo/UBERON_0009141	craniocervical region vein		
http://purl.obolibrary.org/obo/UBERON_0003643	respiratory system arterial blood vessel	http://purl.obolibrary.org/obo/UBERON_0003509	arterial blood vessel		
http://purl.obolibrary.org/obo/UBERON_0001637	artery	http://purl.obolibrary.org/obo/UBERON_0003509	arterial blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003221	phalanx	http://purl.obolibrary.org/obo/UBERON_0015023	phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0000981	femur	http://purl.obolibrary.org/obo/UBERON_0015052	femur endochondral element		
http://purl.obolibrary.org/obo/UBERON_0003663	hindlimb muscle	http://purl.obolibrary.org/obo/UBERON_0014892	skeletal muscle organ, vertebrate		
http://purl.obolibrary.org/obo/UBERON_0001383	muscle of leg	http://purl.obolibrary.org/obo/UBERON_0014892	skeletal muscle organ, vertebrate		
http://purl.obolibrary.org/obo/UBERON_0002491	lambdoid suture	http://purl.obolibrary.org/obo/UBERON_0003685	cranial suture		
http://purl.obolibrary.org/obo/UBERON_0001103	diaphragm	http://purl.obolibrary.org/obo/UBERON_0003831	respiratory system muscle		
http://purl.obolibrary.org/obo/UBERON_0001091	calcareous tooth	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0000083	mesonephric tubule	http://purl.obolibrary.org/obo/UBERON_0006555	excretory tube		
http://purl.obolibrary.org/obo/UBERON_0007502	epithelial plexus	http://purl.obolibrary.org/obo/UBERON_0003914	epithelial tube		
http://purl.obolibrary.org/obo/UBERON_0009201	nephric duct	http://purl.obolibrary.org/obo/UBERON_0006555	excretory tube		
http://purl.obolibrary.org/obo/UBERON_0006615	venous sinus	http://purl.obolibrary.org/obo/UBERON_0003920	venous blood vessel		
http://purl.obolibrary.org/obo/UBERON_0011004	pharyngeal arch cartilage	http://purl.obolibrary.org/obo/UBERON_0007844	cartilage element		
http://purl.obolibrary.org/obo/UBERON_0005398	female reproductive gland	http://purl.obolibrary.org/obo/UBERON_0003937	reproductive gland		
http://purl.obolibrary.org/obo/UBERON_0005399	male reproductive gland	http://purl.obolibrary.org/obo/UBERON_0003937	reproductive gland		
http://purl.obolibrary.org/obo/UBERON_0005208	right atrium valve	http://purl.obolibrary.org/obo/UBERON_0003978	valve		
http://purl.obolibrary.org/obo/UBERON_0004014	labium minora	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0004085	labium majora	http://purl.obolibrary.org/obo/UBERON_0004084	genital labium		
http://purl.obolibrary.org/obo/UBERON_0000159	anal canal	http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit		
http://purl.obolibrary.org/obo/UBERON_0003959	rete testis	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0000025	tube	http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit		
http://purl.obolibrary.org/obo/UBERON_0000055	vessel	http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit		
http://purl.obolibrary.org/obo/UBERON_0000161	orifice	http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit		
http://purl.obolibrary.org/obo/UBERON_0001352	external acoustic meatus	http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit		
http://purl.obolibrary.org/obo/UBERON_0005744	bone foramen	http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit		
http://purl.obolibrary.org/obo/UBERON_0011859	internal acoustic meatus	http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit		
http://purl.obolibrary.org/obo/UBERON_0002367	prostate gland	http://purl.obolibrary.org/obo/UBERON_0010147	male accessory sex gland		
http://purl.obolibrary.org/obo/UBERON_0000056	ureter	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0000948	heart	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0000989	penis	http://purl.obolibrary.org/obo/UBERON_0008811	intromittent organ		
http://purl.obolibrary.org/obo/UBERON_0000996	vagina	http://purl.obolibrary.org/obo/UBERON_0013515	subdivision of oviduct		
http://purl.obolibrary.org/obo/UBERON_0000998	seminal vesicle	http://purl.obolibrary.org/obo/UBERON_0006868	seminal fluid secreting gland		
http://purl.obolibrary.org/obo/UBERON_0003889	fallopian tube	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0006589	round ligament of uterus	http://purl.obolibrary.org/obo/UBERON_0008845	nonskeletal ligament		
http://purl.obolibrary.org/obo/UBERON_0001533	subclavian artery	http://purl.obolibrary.org/obo/UBERON_0004573	systemic artery		
http://purl.obolibrary.org/obo/UBERON_0002072	hypodermis	http://purl.obolibrary.org/obo/UBERON_0013754	integumentary system layer		
http://purl.obolibrary.org/obo/UBERON_0000966	retina	http://purl.obolibrary.org/obo/UBERON_0005388	photoreceptor array		
http://purl.obolibrary.org/obo/UBERON_0001017	central nervous system	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0000941	cranial nerve II	http://purl.obolibrary.org/obo/UBERON_0034713	cranial neuron projection bundle		
http://purl.obolibrary.org/obo/UBERON_2000364	hypural	http://purl.obolibrary.org/obo/UBERON_2001364	hemal spine		
http://purl.obolibrary.org/obo/UBERON_0013703	integumentary projection	http://purl.obolibrary.org/obo/UBERON_0006003	integumentary adnexa		
http://purl.obolibrary.org/obo/UBERON_0008789	cranial fossa	http://purl.obolibrary.org/obo/UBERON_0004704	bone fossa		
http://purl.obolibrary.org/obo/UBERON_0002418	cartilage tissue	http://purl.obolibrary.org/obo/UBERON_0004755	skeletal tissue		
http://purl.obolibrary.org/obo/UBERON_0002481	bone tissue	http://purl.obolibrary.org/obo/UBERON_0004755	skeletal tissue		
http://purl.obolibrary.org/obo/UBERON_0001474	bone element	http://purl.obolibrary.org/obo/UBERON_0004765	skeletal element		
http://purl.obolibrary.org/obo/UBERON_0003913	tooth-like structure	http://purl.obolibrary.org/obo/UBERON_0004765	skeletal element		
http://purl.obolibrary.org/obo/UBERON_0004756	dermal skeletal element	http://purl.obolibrary.org/obo/UBERON_0004765	skeletal element		
http://purl.obolibrary.org/obo/UBERON_0007844	cartilage element	http://purl.obolibrary.org/obo/UBERON_0004765	skeletal element		
http://purl.obolibrary.org/obo/UBERON_0010363	endochondral element	http://purl.obolibrary.org/obo/UBERON_0004765	skeletal element		
http://purl.obolibrary.org/obo/UBERON_0010911	ossicle	http://purl.obolibrary.org/obo/UBERON_0004765	skeletal element		
http://purl.obolibrary.org/obo/UBERON_0004742	dentary	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0000982	skeletal joint	http://purl.obolibrary.org/obo/UBERON_0004905	articulation		
http://purl.obolibrary.org/obo/UBERON_0000059	large intestine	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0000160	intestine	http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0000165	mouth	http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0000945	stomach	http://purl.obolibrary.org/obo/UBERON_0010039	food storage organ		
http://purl.obolibrary.org/obo/UBERON_0001052	rectum	http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0001155	colon	http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0002108	small intestine	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0002114	duodenum	http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0002115	jejunum	http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0002116	ileum	http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0006562	pharynx	http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0000168	proximal-distal subdivision of colon	http://purl.obolibrary.org/obo/UBERON_0013522	subdivision of tube		
http://purl.obolibrary.org/obo/UBERON_0009854	digestive tract diverticulum	http://purl.obolibrary.org/obo/UBERON_0009856	sac		
http://purl.obolibrary.org/obo/UBERON_0009870	zone of stomach	http://purl.obolibrary.org/obo/UBERON_0034944	zone of organ		
http://purl.obolibrary.org/obo/UBERON_0000344	mucosa	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0002523	tunica intima	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0005358	ventricle of nervous system	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0005388	photoreceptor array	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0005983	heart layer	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0013754	integumentary system layer	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0018260	layer of muscle tissue	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0022351	parietal serous membrane	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0034933	layer of smooth muscle tissue	http://purl.obolibrary.org/obo/UBERON_0018260	layer of muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0006810	olecranon	http://purl.obolibrary.org/obo/UBERON_0005055	zone of long bone		
http://purl.obolibrary.org/obo/UBERON_0001437	epiphysis	http://purl.obolibrary.org/obo/UBERON_0005055	zone of long bone		
http://purl.obolibrary.org/obo/UBERON_0001438	metaphysis	http://purl.obolibrary.org/obo/UBERON_0005055	zone of long bone		
http://purl.obolibrary.org/obo/UBERON_0001300	scrotum	http://purl.obolibrary.org/obo/UBERON_0034929	external soft tissue zone		
http://purl.obolibrary.org/obo/UBERON_0005352	spermatic cord	http://purl.obolibrary.org/obo/UBERON_0034921	multi organ part structure		
http://purl.obolibrary.org/obo/UBERON_0009853	body of uterus	http://purl.obolibrary.org/obo/UBERON_0034944	zone of organ		
http://purl.obolibrary.org/obo/UBERON_0011374	prepuce	http://purl.obolibrary.org/obo/UBERON_0034929	external soft tissue zone		
http://purl.obolibrary.org/obo/UBERON_0013515	subdivision of oviduct	http://purl.obolibrary.org/obo/UBERON_0013522	subdivision of tube		
http://purl.obolibrary.org/obo/UBERON_0012337	cauda equina	http://purl.obolibrary.org/obo/UBERON_0005162	multi cell part structure		
http://purl.obolibrary.org/obo/UBERON_0000122	neuron projection bundle	http://purl.obolibrary.org/obo/UBERON_0005162	multi cell part structure		
http://purl.obolibrary.org/obo/UBERON_0011215	central nervous system cell part cluster	http://purl.obolibrary.org/obo/UBERON_0005162	multi cell part structure		
http://purl.obolibrary.org/obo/UBERON_0022303	nervous system cell part layer	http://purl.obolibrary.org/obo/UBERON_0005162	multi cell part structure		
http://purl.obolibrary.org/obo/UBERON_0001774	skeletal muscle of trunk	http://purl.obolibrary.org/obo/UBERON_0014892	skeletal muscle organ, vertebrate		
http://purl.obolibrary.org/obo/UBERON_0000965	lens of camera-type eye	http://purl.obolibrary.org/obo/UBERON_0005389	transparent eye structure		
http://purl.obolibrary.org/obo/UBERON_0010145	paraurethral gland	http://purl.obolibrary.org/obo/UBERON_0005398	female reproductive gland		
http://purl.obolibrary.org/obo/UBERON_0011826	vestibular gland	http://purl.obolibrary.org/obo/UBERON_0005398	female reproductive gland		
http://purl.obolibrary.org/obo/UBERON_0010147	male accessory sex gland	http://purl.obolibrary.org/obo/UBERON_0005399	male reproductive gland		
http://purl.obolibrary.org/obo/UBERON_0010134	secretory circumventricular organ	http://purl.obolibrary.org/obo/UBERON_0010133	neuroendocrine gland		
http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure	http://purl.obolibrary.org/obo/UBERON_0005423	developing anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0013685	foramen of skull	http://purl.obolibrary.org/obo/UBERON_0005744	bone foramen		
http://purl.obolibrary.org/obo/UBERON_0002544	digit	http://purl.obolibrary.org/obo/UBERON_0005881	autopodial extension		
http://purl.obolibrary.org/obo/UBERON_0005055	zone of long bone	http://purl.obolibrary.org/obo/UBERON_0005913	zone of bone organ		
http://purl.obolibrary.org/obo/UBERON_0001463	thumb	http://purl.obolibrary.org/obo/UBERON_0019231	manual digit 1 or 5		
http://purl.obolibrary.org/obo/UBERON_0003631	big toe	http://purl.obolibrary.org/obo/UBERON_0019241	pedal digit 1 or 5		
http://purl.obolibrary.org/obo/UBERON_0000978	leg	http://purl.obolibrary.org/obo/UBERON_0008784	lower limb segment		
http://purl.obolibrary.org/obo/UBERON_0005486	venous dural sinus	http://purl.obolibrary.org/obo/UBERON_0006615	venous sinus		
http://purl.obolibrary.org/obo/UBERON_0007425	decussation of diencephalon	http://purl.obolibrary.org/obo/UBERON_0007418	neural decussation		
http://purl.obolibrary.org/obo/UBERON_0013141	capillary bed	http://purl.obolibrary.org/obo/UBERON_0007502	epithelial plexus		
http://purl.obolibrary.org/obo/UBERON_0001810	nerve plexus	http://purl.obolibrary.org/obo/UBERON_0007651	anatomical junction		
http://purl.obolibrary.org/obo/UBERON_1100000	digestive tract junction	http://purl.obolibrary.org/obo/UBERON_0007651	anatomical junction		
http://purl.obolibrary.org/obo/UBERON_0003406	cartilage of respiratory system	http://purl.obolibrary.org/obo/UBERON_0007844	cartilage element		
http://purl.obolibrary.org/obo/UBERON_0003933	cranial cartilage	http://purl.obolibrary.org/obo/UBERON_0007844	cartilage element		
http://purl.obolibrary.org/obo/UBERON_0011135	intervertebral cartilage	http://purl.obolibrary.org/obo/UBERON_0007844	cartilage element		
http://purl.obolibrary.org/obo/UBERON_0001465	knee	http://purl.obolibrary.org/obo/UBERON_0008784	lower limb segment		
http://purl.obolibrary.org/obo/UBERON_0011136	ligament of vertebral column	http://purl.obolibrary.org/obo/UBERON_0008846	skeletal ligament		
http://purl.obolibrary.org/obo/UBERON_0001705	nail	http://purl.obolibrary.org/obo/UBERON_0009564	distal limb integumentary appendage		
http://purl.obolibrary.org/obo/UBERON_0000916	abdomen	http://purl.obolibrary.org/obo/UBERON_0009569	subdivision of trunk		
http://purl.obolibrary.org/obo/UBERON_0002356	perineum	http://purl.obolibrary.org/obo/UBERON_0009569	subdivision of trunk		
http://purl.obolibrary.org/obo/UBERON_0001153	caecum	http://purl.obolibrary.org/obo/UBERON_0009854	digestive tract diverticulum		
http://purl.obolibrary.org/obo/UBERON_0001160	fundus of stomach	http://purl.obolibrary.org/obo/UBERON_0009870	zone of stomach		
http://purl.obolibrary.org/obo/UBERON_0001162	cardia of stomach	http://purl.obolibrary.org/obo/UBERON_0009870	zone of stomach		
http://purl.obolibrary.org/obo/UBERON_0001165	pyloric antrum	http://purl.obolibrary.org/obo/UBERON_0009870	zone of stomach		
http://purl.obolibrary.org/obo/UBERON_0001166	pylorus	http://purl.obolibrary.org/obo/UBERON_0009870	zone of stomach		
http://purl.obolibrary.org/obo/UBERON_0000964	cornea	http://purl.obolibrary.org/obo/UBERON_0010313	neural crest-derived structure		
http://purl.obolibrary.org/obo/UBERON_0000062	organ	http://purl.obolibrary.org/obo/UBERON_0010000	multicellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0000064	organ part	http://purl.obolibrary.org/obo/UBERON_0010000	multicellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision	http://purl.obolibrary.org/obo/UBERON_0010000	multicellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0000479	tissue	http://purl.obolibrary.org/obo/UBERON_0010000	multicellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0000481	multi-tissue structure	http://purl.obolibrary.org/obo/UBERON_0010000	multicellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0003947	brain ventricle/choroid plexus	http://purl.obolibrary.org/obo/UBERON_0010000	multicellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit	http://purl.obolibrary.org/obo/UBERON_0010000	multicellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure	http://purl.obolibrary.org/obo/UBERON_0010000	multicellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision	http://purl.obolibrary.org/obo/UBERON_0010000	multicellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0034921	multi organ part structure	http://purl.obolibrary.org/obo/UBERON_0010000	multicellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0034922	cell cluster	http://purl.obolibrary.org/obo/UBERON_0010000	multicellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0034929	external soft tissue zone	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0034978	paraganglion (generic)	http://purl.obolibrary.org/obo/UBERON_0010313	neural crest-derived structure		
http://purl.obolibrary.org/obo/UBERON_0010011	collection of basal ganglia	http://purl.obolibrary.org/obo/UBERON_0010009	aggregate regional part of brain		
http://purl.obolibrary.org/obo/UBERON_0010165	collection of hair on face	http://purl.obolibrary.org/obo/UBERON_0014382	collection of hairs on head or neck		
http://purl.obolibrary.org/obo/UBERON_0014382	collection of hairs on head or neck	http://purl.obolibrary.org/obo/UBERON_0010164	collection of hairs		
http://purl.obolibrary.org/obo/UBERON_0010167	beard	http://purl.obolibrary.org/obo/UBERON_0010165	collection of hair on face		
http://purl.obolibrary.org/obo/UBERON_0010163	eyebrow	http://purl.obolibrary.org/obo/UBERON_0010165	collection of hair on face		
http://purl.obolibrary.org/obo/UBERON_3000701	intervertebral space	http://purl.obolibrary.org/obo/UBERON_0010276	space in vertebral column		
http://purl.obolibrary.org/obo/UBERON_0000014	zone of skin	http://purl.obolibrary.org/obo/UBERON_0034944	zone of organ		
http://purl.obolibrary.org/obo/UBERON_0001708	jaw skeleton	http://purl.obolibrary.org/obo/UBERON_0010912	subdivision of skeleton		
http://purl.obolibrary.org/obo/UBERON_0000923	germ layer	http://purl.obolibrary.org/obo/UBERON_0010316	germ layer / neural crest		
http://purl.obolibrary.org/obo/UBERON_0015019	rib endochondral element	http://purl.obolibrary.org/obo/UBERON_0010363	endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015021	forelimb endochondral element	http://purl.obolibrary.org/obo/UBERON_0015061	limb endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015022	hindlimb endochondral element	http://purl.obolibrary.org/obo/UBERON_0015061	limb endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015060	sphenoid endochondral element	http://purl.obolibrary.org/obo/UBERON_0010363	endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015061	limb endochondral element	http://purl.obolibrary.org/obo/UBERON_0010363	endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015063	autopod endochondral element	http://purl.obolibrary.org/obo/UBERON_0015061	limb endochondral element		
http://purl.obolibrary.org/obo/UBERON_0002529	limb segment	http://purl.obolibrary.org/obo/UBERON_0010758	subdivision of organism along appendicular axis		
http://purl.obolibrary.org/obo/UBERON_0006058	multi-limb segment region	http://purl.obolibrary.org/obo/UBERON_0010758	subdivision of organism along appendicular axis		
http://purl.obolibrary.org/obo/UBERON_0010538	paired limb/fin segment	http://purl.obolibrary.org/obo/UBERON_0010758	subdivision of organism along appendicular axis		
http://purl.obolibrary.org/obo/UBERON_0014795	pelvic appendage muscle	http://purl.obolibrary.org/obo/UBERON_0014892	skeletal muscle organ, vertebrate		
http://purl.obolibrary.org/obo/UBERON_0011141	appendicular ossicle	http://purl.obolibrary.org/obo/UBERON_0010911	ossicle		
http://purl.obolibrary.org/obo/UBERON_0013631	sesamoid element	http://purl.obolibrary.org/obo/UBERON_0010911	ossicle		
http://purl.obolibrary.org/obo/UBERON_0002209	fibrous joint	http://purl.obolibrary.org/obo/UBERON_0011134	nonsynovial joint		
http://purl.obolibrary.org/obo/UBERON_0002213	cartilaginous joint	http://purl.obolibrary.org/obo/UBERON_0011134	nonsynovial joint		
http://purl.obolibrary.org/obo/UBERON_0001066	intervertebral disk	http://purl.obolibrary.org/obo/UBERON_0011135	intervertebral cartilage		
http://purl.obolibrary.org/obo/UBERON_0000956	cerebral cortex	http://purl.obolibrary.org/obo/UBERON_0016548	central nervous system gray matter layer		
http://purl.obolibrary.org/obo/UBERON_0002020	gray matter	http://purl.obolibrary.org/obo/UBERON_0011215	central nervous system cell part cluster		
http://purl.obolibrary.org/obo/UBERON_0016550	spinal cord column	http://purl.obolibrary.org/obo/UBERON_0011215	central nervous system cell part cluster		
http://purl.obolibrary.org/obo/UBERON_0000010	peripheral nervous system	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0002410	autonomic nervous system	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0006558	lymphatic part of lymphoid system	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0000075	subdivision of skeletal system	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0001556	lower urinary tract	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0002423	hepatobiliary system	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0010912	subdivision of skeleton	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0011822	dense irregular connective tissue	http://purl.obolibrary.org/obo/UBERON_0011823	dense connective tissue		
http://purl.obolibrary.org/obo/UBERON_0011825	loose connective tissue	http://purl.obolibrary.org/obo/UBERON_0011821	irregular connective tissue		
http://purl.obolibrary.org/obo/UBERON_0001961	mucosa-associated lymphoid tissue	http://purl.obolibrary.org/obo/UBERON_0012069	epithelium-associated lymphoid tissue		
http://purl.obolibrary.org/obo/UBERON_0015189	perineural vascular plexus	http://purl.obolibrary.org/obo/UBERON_0013141	capillary bed		
http://purl.obolibrary.org/obo/UBERON_0000995	uterus	http://purl.obolibrary.org/obo/UBERON_0013515	subdivision of oviduct		
http://purl.obolibrary.org/obo/UBERON_0000072	proximo-distal subdivision of respiratory tract	http://purl.obolibrary.org/obo/UBERON_0013522	subdivision of tube		
http://purl.obolibrary.org/obo/UBERON_0001051	hypopharynx	http://purl.obolibrary.org/obo/UBERON_0013522	subdivision of tube		
http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract	http://purl.obolibrary.org/obo/UBERON_0013522	subdivision of tube		
http://purl.obolibrary.org/obo/UBERON_0001479	sesamoid bone	http://purl.obolibrary.org/obo/UBERON_0013631	sesamoid element		
http://purl.obolibrary.org/obo/UBERON_0002279	vestibular aqueduct	http://purl.obolibrary.org/obo/UBERON_0013685	foramen of skull		
http://purl.obolibrary.org/obo/UBERON_0018321	foramen for glossopharyngeal nerve	http://purl.obolibrary.org/obo/UBERON_0013685	foramen of skull		
http://purl.obolibrary.org/obo/UBERON_0009564	distal limb integumentary appendage	http://purl.obolibrary.org/obo/UBERON_0013703	integumentary projection		
http://purl.obolibrary.org/obo/UBERON_0002027	stratum corneum of epidermis	http://purl.obolibrary.org/obo/UBERON_0013754	integumentary system layer		
http://purl.obolibrary.org/obo/UBERON_0001154	vermiform appendix	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0010039	food storage organ	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0000366	flexor muscle	http://purl.obolibrary.org/obo/UBERON_0014892	skeletal muscle organ, vertebrate		
http://purl.obolibrary.org/obo/UBERON_0003661	limb muscle	http://purl.obolibrary.org/obo/UBERON_0014892	skeletal muscle organ, vertebrate		
http://purl.obolibrary.org/obo/UBERON_0010890	pelvic complex muscle	http://purl.obolibrary.org/obo/UBERON_0014892	skeletal muscle organ, vertebrate		
http://purl.obolibrary.org/obo/UBERON_0010959	craniocervical muscle	http://purl.obolibrary.org/obo/UBERON_0014892	skeletal muscle organ, vertebrate		
http://purl.obolibrary.org/obo/UBERON_0015001	radius endochondral element	http://purl.obolibrary.org/obo/UBERON_0015021	forelimb endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015053	humerus endochondral element	http://purl.obolibrary.org/obo/UBERON_0015021	forelimb endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015004	tibia endochondral element	http://purl.obolibrary.org/obo/UBERON_0015022	hindlimb endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015052	femur endochondral element	http://purl.obolibrary.org/obo/UBERON_0015022	hindlimb endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015023	phalanx endochondral element	http://purl.obolibrary.org/obo/UBERON_0015063	autopod endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015154	lateral gland of orbital region	http://purl.obolibrary.org/obo/UBERON_0015152	gland of ocular region		
http://purl.obolibrary.org/obo/UBERON_0001032	sensory system	http://purl.obolibrary.org/obo/UBERON_0015203	non-connected functional system		
http://purl.obolibrary.org/obo/UBERON_0002405	immune system	http://purl.obolibrary.org/obo/UBERON_0015203	non-connected functional system		
http://purl.obolibrary.org/obo/UBERON_0015204	glandular system	http://purl.obolibrary.org/obo/UBERON_0015203	non-connected functional system		
http://purl.obolibrary.org/obo/UBERON_0000949	endocrine system	http://purl.obolibrary.org/obo/UBERON_0015204	glandular system		
http://purl.obolibrary.org/obo/UBERON_0002257	ventral horn of spinal cord	http://purl.obolibrary.org/obo/UBERON_0016550	spinal cord column		
http://purl.obolibrary.org/obo/UBERON_0004084	genital labium	http://purl.obolibrary.org/obo/UBERON_8480029	skin of external genitalia		
http://purl.obolibrary.org/obo/UBERON_0007100	primary circulatory organ	http://purl.obolibrary.org/obo/UBERON_0015228	circulatory organ		
http://purl.obolibrary.org/obo/UBERON_0034769	lymphomyeloid tissue	http://purl.obolibrary.org/obo/UBERON_0015757	heterogeneous tissue		
http://purl.obolibrary.org/obo/UBERON_0001872	parietal lobe	http://purl.obolibrary.org/obo/UBERON_0016526	lobe of cerebral hemisphere		
http://purl.obolibrary.org/obo/UBERON_0016525	frontal lobe	http://purl.obolibrary.org/obo/UBERON_0016526	lobe of cerebral hemisphere		
http://purl.obolibrary.org/obo/UBERON_0004885	hilum	http://purl.obolibrary.org/obo/UBERON_0016566	pit		
http://purl.obolibrary.org/obo/UBERON_0005340	dorsal telencephalic commissure	http://purl.obolibrary.org/obo/UBERON_0019294	commissure of telencephalon		
http://purl.obolibrary.org/obo/UBERON_0022276	splenic flexure of colon	http://purl.obolibrary.org/obo/UBERON_0022275	colic flexure		
http://purl.obolibrary.org/obo/UBERON_0016548	central nervous system gray matter layer	http://purl.obolibrary.org/obo/UBERON_0022303	nervous system cell part layer		
http://purl.obolibrary.org/obo/UBERON_0001366	parietal peritoneum	http://purl.obolibrary.org/obo/UBERON_0022351	parietal serous membrane		
http://purl.obolibrary.org/obo/UBERON_0004529	anatomical projection	http://purl.obolibrary.org/obo/UBERON_0034768	morphological feature		
http://purl.obolibrary.org/obo/UBERON_0001744	lymphoid tissue	http://purl.obolibrary.org/obo/UBERON_0034769	lymphomyeloid tissue		
http://purl.obolibrary.org/obo/UBERON_0001756	middle ear	http://purl.obolibrary.org/obo/UBERON_0034921	multi organ part structure		
http://purl.obolibrary.org/obo/UBERON_0004905	articulation	http://purl.obolibrary.org/obo/UBERON_0034921	multi organ part structure		
http://purl.obolibrary.org/obo/UBERON_0000006	islet of Langerhans	http://purl.obolibrary.org/obo/UBERON_0034922	cell cluster		
http://purl.obolibrary.org/obo/UBERON_0009842	glandular acinus	http://purl.obolibrary.org/obo/UBERON_0034922	cell cluster		
http://purl.obolibrary.org/obo/UBERON_0000477	anatomical cluster	http://purl.obolibrary.org/obo/UBERON_0034923	disconnected anatomical group		
http://purl.obolibrary.org/obo/UBERON_0010009	aggregate regional part of brain	http://purl.obolibrary.org/obo/UBERON_0034923	disconnected anatomical group		
http://purl.obolibrary.org/obo/UBERON_0015203	non-connected functional system	http://purl.obolibrary.org/obo/UBERON_0034923	disconnected anatomical group		
http://purl.obolibrary.org/obo/UBERON_0010164	collection of hairs	http://purl.obolibrary.org/obo/UBERON_0034925	anatomical collection		
http://purl.obolibrary.org/obo/UBERON_0000341	throat	http://purl.obolibrary.org/obo/UBERON_0034929	external soft tissue zone		
http://purl.obolibrary.org/obo/UBERON_0019243	skin crease	http://purl.obolibrary.org/obo/UBERON_3000961	external integument structure		
http://purl.obolibrary.org/obo/NCBITaxon_59201	Salmonella enterica subsp. enterica	http://purl.obolibrary.org/obo/NCBITaxon_28901	Salmonella enterica		
http://purl.obolibrary.org/obo/NCBITaxon_28901	Salmonella enterica	http://purl.obolibrary.org/obo/NCBITaxon_590	Salmonella		
http://purl.obolibrary.org/obo/SO_0000240	chromosome_variation	http://purl.obolibrary.org/obo/SO_0001260	sequence_collection		
http://purl.obolibrary.org/obo/SYMP_0000196	reproductive system symptom	http://purl.obolibrary.org/obo/SYMP_0000462	symptom		
http://purl.obolibrary.org/obo/SYMP_0000410	neurological and physiological symptom	http://purl.obolibrary.org/obo/SYMP_0000462	symptom		
http://purl.obolibrary.org/obo/SYMP_0000459	digestive system symptom	http://purl.obolibrary.org/obo/SYMP_0000462	symptom		
http://purl.obolibrary.org/obo/SYMP_0000461	abdominal symptom	http://purl.obolibrary.org/obo/SYMP_0000462	symptom		
http://purl.obolibrary.org/obo/SYMP_0000473	nutrition, metabolism, and development symptom	http://purl.obolibrary.org/obo/SYMP_0000462	symptom		
http://purl.obolibrary.org/obo/SYMP_0000480	nervous system symptom	http://purl.obolibrary.org/obo/SYMP_0000462	symptom		
http://purl.obolibrary.org/obo/SYMP_0000486	urinary system symptom	http://purl.obolibrary.org/obo/SYMP_0000462	symptom		
http://purl.obolibrary.org/obo/SYMP_0000514	respiratory system and chest symptom	http://purl.obolibrary.org/obo/SYMP_0000462	symptom		
http://purl.obolibrary.org/obo/SYMP_0000528	cardiovascular system symptom	http://purl.obolibrary.org/obo/SYMP_0000462	symptom		
http://purl.obolibrary.org/obo/SYMP_0000567	general symptom	http://purl.obolibrary.org/obo/SYMP_0000462	symptom		
http://purl.obolibrary.org/obo/SYMP_0000597	head and neck symptom	http://purl.obolibrary.org/obo/SYMP_0000462	symptom		
http://purl.obolibrary.org/obo/SYMP_0000891	musculoskeletal system symptom	http://purl.obolibrary.org/obo/SYMP_0000462	symptom		
http://purl.obolibrary.org/obo/GENO_0000929	multifactorial inheritance	http://purl.obolibrary.org/obo/GENO_0000141	inheritance pattern		
http://purl.obolibrary.org/obo/GENO_0000949	mitochondrial inheritance	http://purl.obolibrary.org/obo/GENO_0000141	inheritance pattern		
http://purl.obolibrary.org/obo/GENO_0000933	monogenic inheritance	http://purl.obolibrary.org/obo/GENO_0000141	inheritance pattern		
http://purl.obolibrary.org/obo/GENO_0000969	chromosomal inheritance	http://purl.obolibrary.org/obo/GENO_0000141	inheritance pattern		
http://purl.obolibrary.org/obo/GENO_0000938	incomplete X-linked dominant inheritance	http://purl.obolibrary.org/obo/GENO_0000146	X-linked dominant inheritance		
http://purl.obolibrary.org/obo/GENO_0000939	co-dominant X-linked inheritance	http://purl.obolibrary.org/obo/GENO_0000146	X-linked dominant inheritance		
http://purl.obolibrary.org/obo/GENO_0000937	complete X-linked dominant inheritance	http://purl.obolibrary.org/obo/GENO_0000146	X-linked dominant inheritance		
http://purl.obolibrary.org/obo/GENO_0000143	co-dominant autosomal inheritance	http://purl.obolibrary.org/obo/GENO_0000147	autosomal dominant inheritance		
http://purl.obolibrary.org/obo/GENO_0000144	complete autosomal dominant inheritance	http://purl.obolibrary.org/obo/GENO_0000147	autosomal dominant inheritance		
http://purl.obolibrary.org/obo/GENO_0000145	incomplete autosomal dominant inheritance	http://purl.obolibrary.org/obo/GENO_0000147	autosomal dominant inheritance		
http://purl.obolibrary.org/obo/GENO_0000952	sex-limited autosomal dominant inheritance	http://purl.obolibrary.org/obo/GENO_0000147	autosomal dominant inheritance		
http://purl.obolibrary.org/obo/GENO_0000953	sex-limited autosomal recessive inheritance	http://purl.obolibrary.org/obo/GENO_0000148	autosomal recessive inheritance		
http://purl.obolibrary.org/obo/SO_0001745	maternal_uniparental_disomy	http://purl.obolibrary.org/obo/SO_0001744	UPD		
http://purl.obolibrary.org/obo/SO_0001746	paternal_uniparental_disomy	http://purl.obolibrary.org/obo/SO_0001744	UPD		
http://purl.obolibrary.org/obo/SO_0000199	translocation	http://purl.obolibrary.org/obo/SO_0001785	structural_alteration		
http://purl.obolibrary.org/obo/HP_0012758	Neurodevelopmental delay	http://purl.obolibrary.org/obo/HP_0012759	Neurodevelopmental abnormality		
http://purl.obolibrary.org/obo/HP_0033353	Abnormal blood vessel morphology	http://purl.obolibrary.org/obo/HP_0025015	Abnormal vascular morphology		
http://purl.obolibrary.org/obo/HP_0011024	Abnormality of the gastrointestinal tract	http://purl.obolibrary.org/obo/HP_0025031	Abnormality of the digestive system		
http://purl.obolibrary.org/obo/HP_0025033	Abnormal digestive system morphology	http://purl.obolibrary.org/obo/HP_0025031	Abnormality of the digestive system		
http://purl.obolibrary.org/obo/HP_0000975	Hyperhidrosis	http://purl.obolibrary.org/obo/HP_0025276	Abnormality of skin adnexa physiology		
http://purl.obolibrary.org/obo/HP_0010468	Aplasia/Hypoplasia of the testes	http://purl.obolibrary.org/obo/HP_0045058	Abnormality of the testis size		
http://purl.obolibrary.org/obo/HP_0032120	Abnormal peripheral nervous system physiology	http://purl.obolibrary.org/obo/HP_0410008	Abnormality of the peripheral nervous system		
http://purl.obolibrary.org/obo/SO_1000183	chromosome_structure_variation	http://purl.obolibrary.org/obo/SO_0000240	chromosome_variation		
http://purl.obolibrary.org/obo/SO_0001536	functional_effect_variant	http://purl.obolibrary.org/obo/SO_0001060	sequence_variant		
http://purl.obolibrary.org/obo/SO_0001537	structural_variant	http://purl.obolibrary.org/obo/SO_0001060	sequence_variant		
http://purl.obolibrary.org/obo/SO_0002218	functionally_abnormal	http://purl.obolibrary.org/obo/SO_0001536	functional_effect_variant		
http://purl.obolibrary.org/obo/SO_0002219	functionally_normal	http://purl.obolibrary.org/obo/SO_0001536	functional_effect_variant		
http://purl.obolibrary.org/obo/SO_0002220	function_uncertain_variant	http://purl.obolibrary.org/obo/SO_0001536	functional_effect_variant		
http://purl.obolibrary.org/obo/SO_0002397	cellular_mislocalization_variant	http://purl.obolibrary.org/obo/SO_0001536	functional_effect_variant		
http://purl.obolibrary.org/obo/SO_0002314	altered_gene_product_level	http://purl.obolibrary.org/obo/SO_0001536	functional_effect_variant		
http://purl.obolibrary.org/obo/SO_0002318	altered_gene_product_sequence	http://purl.obolibrary.org/obo/SO_0001536	functional_effect_variant		
http://purl.obolibrary.org/obo/SO_0001565	gene_fusion	http://purl.obolibrary.org/obo/SO_0001882	feature_fusion		
http://purl.obolibrary.org/obo/SO_0001878	feature_variant	http://purl.obolibrary.org/obo/SO_0001537	structural_variant		
http://purl.obolibrary.org/obo/SO_0001879	feature_ablation	http://purl.obolibrary.org/obo/SO_0001537	structural_variant		
http://purl.obolibrary.org/obo/SO_0001880	feature_amplification	http://purl.obolibrary.org/obo/SO_0001537	structural_variant		
http://purl.obolibrary.org/obo/SO_0001881	feature_translocation	http://purl.obolibrary.org/obo/SO_0001537	structural_variant		
http://purl.obolibrary.org/obo/SO_0001882	feature_fusion	http://purl.obolibrary.org/obo/SO_0001537	structural_variant		
http://purl.obolibrary.org/obo/SO_0002160	sequence_length_variant	http://purl.obolibrary.org/obo/SO_0001537	structural_variant		
http://purl.obolibrary.org/obo/SO_0001540	level_of_transcript_variant	http://purl.obolibrary.org/obo/SO_0001538	transcript_function_variant		
http://purl.obolibrary.org/obo/SO_0001543	transcript_processing_variant	http://purl.obolibrary.org/obo/SO_0001538	transcript_function_variant		
http://purl.obolibrary.org/obo/SO_0001546	transcript_stability_variant	http://purl.obolibrary.org/obo/SO_0001538	transcript_function_variant		
http://purl.obolibrary.org/obo/SO_0001549	transcription_variant	http://purl.obolibrary.org/obo/SO_0001538	transcript_function_variant		
http://purl.obolibrary.org/obo/SO_0001553	translational_product_level_variant	http://purl.obolibrary.org/obo/SO_0001539	translational_product_function_variant		
http://purl.obolibrary.org/obo/SO_0001554	polypeptide_function_variant	http://purl.obolibrary.org/obo/SO_0001539	translational_product_function_variant		
http://purl.obolibrary.org/obo/SO_0001599	3D_polypeptide_structure_variant	http://purl.obolibrary.org/obo/SO_0001539	translational_product_function_variant		
http://purl.obolibrary.org/obo/SO_0001602	complex_change_of_translational_product_variant	http://purl.obolibrary.org/obo/SO_0001539	translational_product_function_variant		
http://purl.obolibrary.org/obo/SO_0001541	decreased_transcript_level_variant	http://purl.obolibrary.org/obo/SO_0001540	level_of_transcript_variant		
http://purl.obolibrary.org/obo/SO_0001542	increased_transcript_level_variant	http://purl.obolibrary.org/obo/SO_0001540	level_of_transcript_variant		
http://purl.obolibrary.org/obo/SO_0002391	abolished_transcription_level_variant	http://purl.obolibrary.org/obo/SO_0001541	decreased_transcript_level_variant		
http://purl.obolibrary.org/obo/SO_0001544	editing_variant	http://purl.obolibrary.org/obo/SO_0001543	transcript_processing_variant		
http://purl.obolibrary.org/obo/SO_0001545	polyadenylation_variant	http://purl.obolibrary.org/obo/SO_0001543	transcript_processing_variant		
http://purl.obolibrary.org/obo/SO_0001802	increased_polyadenylation_variant	http://purl.obolibrary.org/obo/SO_0001545	polyadenylation_variant		
http://purl.obolibrary.org/obo/SO_0001803	decreased_polyadenylation_variant	http://purl.obolibrary.org/obo/SO_0001545	polyadenylation_variant		
http://purl.obolibrary.org/obo/SO_0001547	decreased_transcript_stability_variant	http://purl.obolibrary.org/obo/SO_0001546	transcript_stability_variant		
http://purl.obolibrary.org/obo/SO_0001548	increased_transcript_stability_variant	http://purl.obolibrary.org/obo/SO_0001546	transcript_stability_variant		
http://purl.obolibrary.org/obo/SO_0001550	rate_of_transcription_variant	http://purl.obolibrary.org/obo/SO_0001549	transcription_variant		
http://purl.obolibrary.org/obo/SO_0001551	increased_transcription_rate_variant	http://purl.obolibrary.org/obo/SO_0001550	rate_of_transcription_variant		
http://purl.obolibrary.org/obo/SO_0001552	decreased_transcription_rate_variant	http://purl.obolibrary.org/obo/SO_0001550	rate_of_transcription_variant		
http://purl.obolibrary.org/obo/SO_0001555	decreased_translational_product_level	http://purl.obolibrary.org/obo/SO_0001553	translational_product_level_variant		
http://purl.obolibrary.org/obo/SO_0001556	increased_translational_product_level	http://purl.obolibrary.org/obo/SO_0001553	translational_product_level_variant		
http://purl.obolibrary.org/obo/SO_0001557	polypeptide_gain_of_function_variant	http://purl.obolibrary.org/obo/SO_0001554	polypeptide_function_variant		
http://purl.obolibrary.org/obo/SO_0001558	polypeptide_localization_variant	http://purl.obolibrary.org/obo/SO_0001554	polypeptide_function_variant		
http://purl.obolibrary.org/obo/SO_0001559	polypeptide_loss_of_function_variant	http://purl.obolibrary.org/obo/SO_0001554	polypeptide_function_variant		
http://purl.obolibrary.org/obo/SO_0001562	polypeptide_post_translational_processing_variant	http://purl.obolibrary.org/obo/SO_0001554	polypeptide_function_variant		
http://purl.obolibrary.org/obo/SO_0002394	decreased_enzyme_activity_variant	http://purl.obolibrary.org/obo/SO_0001554	polypeptide_function_variant		
http://purl.obolibrary.org/obo/SO_0002396	decreased_polypeptide_level	http://purl.obolibrary.org/obo/SO_0001555	decreased_translational_product_level		
http://purl.obolibrary.org/obo/SO_0001560	inactive_ligand_binding_site	http://purl.obolibrary.org/obo/SO_0001559	polypeptide_loss_of_function_variant		
http://purl.obolibrary.org/obo/SO_0001561	polypeptide_partial_loss_of_function	http://purl.obolibrary.org/obo/SO_0001559	polypeptide_loss_of_function_variant		
http://purl.obolibrary.org/obo/SO_0001618	inactive_catalytic_site	http://purl.obolibrary.org/obo/SO_0001560	inactive_ligand_binding_site		
http://purl.obolibrary.org/obo/SO_0001911	copy_number_increase	http://purl.obolibrary.org/obo/SO_0001563	copy_number_change		
http://purl.obolibrary.org/obo/SO_0001912	copy_number_decrease	http://purl.obolibrary.org/obo/SO_0001563	copy_number_change		
http://purl.obolibrary.org/obo/SO_0001576	transcript_variant	http://purl.obolibrary.org/obo/SO_0001564	gene_variant		
http://purl.obolibrary.org/obo/SO_0001598	translational_product_structure_variant	http://purl.obolibrary.org/obo/SO_0001564	gene_variant		
http://purl.obolibrary.org/obo/SO_0002152	genic_downstream_transcript_variant	http://purl.obolibrary.org/obo/SO_0001564	gene_variant		
http://purl.obolibrary.org/obo/SO_0002153	genic_upstream_transcript_variant	http://purl.obolibrary.org/obo/SO_0001564	gene_variant		
http://purl.obolibrary.org/obo/SO_0002085	unidirectional_gene_fusion	http://purl.obolibrary.org/obo/SO_0001565	gene_fusion		
http://purl.obolibrary.org/obo/SO_0002086	bidirectional_gene_fusion	http://purl.obolibrary.org/obo/SO_0001565	gene_fusion		
http://purl.obolibrary.org/obo/SO_0001782	TF_binding_site_variant	http://purl.obolibrary.org/obo/SO_0001566	regulatory_region_variant		
http://purl.obolibrary.org/obo/SO_0001569	cryptic_splice_site_variant	http://purl.obolibrary.org/obo/SO_0001568	splicing_variant		
http://purl.obolibrary.org/obo/SO_0001572	exon_loss_variant	http://purl.obolibrary.org/obo/SO_0001568	splicing_variant		
http://purl.obolibrary.org/obo/SO_0001573	intron_gain_variant	http://purl.obolibrary.org/obo/SO_0001568	splicing_variant		
http://purl.obolibrary.org/obo/SO_0001629	splice_site_variant	http://purl.obolibrary.org/obo/SO_0001627	intron_variant		
http://purl.obolibrary.org/obo/SO_0001630	splice_region_variant	http://purl.obolibrary.org/obo/SO_0001568	splicing_variant		
http://purl.obolibrary.org/obo/SO_0001995	extended_intronic_splice_region_variant	http://purl.obolibrary.org/obo/SO_0001568	splicing_variant		
http://purl.obolibrary.org/obo/SO_0002169	splice_polypyrimidine_tract_variant	http://purl.obolibrary.org/obo/SO_0001568	splicing_variant		
http://purl.obolibrary.org/obo/SO_0002390	pseudoexon_variant	http://purl.obolibrary.org/obo/SO_0001568	splicing_variant		
http://purl.obolibrary.org/obo/SO_0001570	cryptic_splice_acceptor	http://purl.obolibrary.org/obo/SO_0001569	cryptic_splice_site_variant		
http://purl.obolibrary.org/obo/SO_0001571	cryptic_splice_donor	http://purl.obolibrary.org/obo/SO_0001569	cryptic_splice_site_variant		
http://purl.obolibrary.org/obo/SO_0002327	splice_acceptor_variant_NMD_triggering	http://purl.obolibrary.org/obo/SO_0002319	NMD_triggering_variant		
http://purl.obolibrary.org/obo/SO_0002328	splice_acceptor_variant_NMD_escaping	http://purl.obolibrary.org/obo/SO_0002320	NMD_escaping_variant		
http://purl.obolibrary.org/obo/SO_0002325	splice_donor_variant_NMD_triggering	http://purl.obolibrary.org/obo/SO_0002319	NMD_triggering_variant		
http://purl.obolibrary.org/obo/SO_0002326	splice_donor_variant_NMD_escaping	http://purl.obolibrary.org/obo/SO_0002320	NMD_escaping_variant		
http://purl.obolibrary.org/obo/SO_0001568	splicing_variant	http://purl.obolibrary.org/obo/SO_0001576	transcript_variant		
http://purl.obolibrary.org/obo/SO_0001577	complex_transcript_variant	http://purl.obolibrary.org/obo/SO_0001576	transcript_variant		
http://purl.obolibrary.org/obo/SO_0001596	transcript_secondary_structure_variant	http://purl.obolibrary.org/obo/SO_0001576	transcript_variant		
http://purl.obolibrary.org/obo/SO_0001619	non_coding_transcript_variant	http://purl.obolibrary.org/obo/SO_0001576	transcript_variant		
http://purl.obolibrary.org/obo/SO_0001621	NMD_transcript_variant	http://purl.obolibrary.org/obo/SO_0001576	transcript_variant		
http://purl.obolibrary.org/obo/SO_0001627	intron_variant	http://purl.obolibrary.org/obo/SO_0001576	transcript_variant		
http://purl.obolibrary.org/obo/SO_0001791	exon_variant	http://purl.obolibrary.org/obo/SO_0001576	transcript_variant		
http://purl.obolibrary.org/obo/SO_0001968	coding_transcript_variant	http://purl.obolibrary.org/obo/SO_0001576	transcript_variant		
http://purl.obolibrary.org/obo/SO_0002011	intragenic_variant	http://purl.obolibrary.org/obo/SO_0001576	transcript_variant		
http://purl.obolibrary.org/obo/SO_0002075	incomplete_transcript_variant	http://purl.obolibrary.org/obo/SO_0001576	transcript_variant		
http://purl.obolibrary.org/obo/SO_0002244	partially_duplicated_transcript	http://purl.obolibrary.org/obo/SO_0001576	transcript_variant		
http://purl.obolibrary.org/obo/SO_0001582	initiator_codon_variant	http://purl.obolibrary.org/obo/SO_0001580	coding_sequence_variant		
http://purl.obolibrary.org/obo/SO_0001590	terminator_codon_variant	http://purl.obolibrary.org/obo/SO_0001580	coding_sequence_variant		
http://purl.obolibrary.org/obo/SO_0001818	protein_altering_variant	http://purl.obolibrary.org/obo/SO_0001580	coding_sequence_variant		
http://purl.obolibrary.org/obo/SO_0001819	synonymous_variant	http://purl.obolibrary.org/obo/SO_0001580	coding_sequence_variant		
http://purl.obolibrary.org/obo/SO_0002012	start_lost	http://purl.obolibrary.org/obo/SO_0001992	nonsynonymous_variant		
http://purl.obolibrary.org/obo/SO_0002019	start_retained_variant	http://purl.obolibrary.org/obo/SO_0001819	synonymous_variant		
http://purl.obolibrary.org/obo/SO_0001585	conservative_missense_variant	http://purl.obolibrary.org/obo/SO_0001583	missense_variant		
http://purl.obolibrary.org/obo/SO_0001586	non_conservative_missense_variant	http://purl.obolibrary.org/obo/SO_0001583	missense_variant		
http://purl.obolibrary.org/obo/SO_0002008	rare_amino_acid_variant	http://purl.obolibrary.org/obo/SO_0001586	non_conservative_missense_variant		
http://purl.obolibrary.org/obo/SO_0002321	stop_gained_NMD_triggering	http://purl.obolibrary.org/obo/SO_0002319	NMD_triggering_variant		
http://purl.obolibrary.org/obo/SO_0002322	stop_gained_NMD_escaping	http://purl.obolibrary.org/obo/SO_0002320	NMD_escaping_variant		
http://purl.obolibrary.org/obo/SO_0001591	frame_restoring_variant	http://purl.obolibrary.org/obo/SO_0001589	frameshift_variant		
http://purl.obolibrary.org/obo/SO_0001592	minus_1_frameshift_variant	http://purl.obolibrary.org/obo/SO_0001589	frameshift_variant		
http://purl.obolibrary.org/obo/SO_0001593	minus_2_frameshift_variant	http://purl.obolibrary.org/obo/SO_0001589	frameshift_variant		
http://purl.obolibrary.org/obo/SO_0001594	plus_1_frameshift_variant	http://purl.obolibrary.org/obo/SO_0001589	frameshift_variant		
http://purl.obolibrary.org/obo/SO_0001595	plus_2_frameshift_variant	http://purl.obolibrary.org/obo/SO_0001589	frameshift_variant		
http://purl.obolibrary.org/obo/SO_0001909	frameshift_elongation	http://purl.obolibrary.org/obo/SO_0001908	internal_feature_elongation		
http://purl.obolibrary.org/obo/SO_0001910	frameshift_truncation	http://purl.obolibrary.org/obo/SO_0001906	feature_truncation		
http://purl.obolibrary.org/obo/SO_0002323	frameshift_variant_NMD_triggering	http://purl.obolibrary.org/obo/SO_0002319	NMD_triggering_variant		
http://purl.obolibrary.org/obo/SO_0002324	frameshift_variant_NMD_escaping	http://purl.obolibrary.org/obo/SO_0002320	NMD_escaping_variant		
http://purl.obolibrary.org/obo/SO_0001567	stop_retained_variant	http://purl.obolibrary.org/obo/SO_0001819	synonymous_variant		
http://purl.obolibrary.org/obo/SO_0001578	stop_lost	http://purl.obolibrary.org/obo/SO_0001992	nonsynonymous_variant		
http://purl.obolibrary.org/obo/SO_0001626	incomplete_terminal_codon_variant	http://purl.obolibrary.org/obo/SO_0001650	inframe_variant		
http://purl.obolibrary.org/obo/SO_0001597	compensatory_transcript_secondary_structure_variant	http://purl.obolibrary.org/obo/SO_0001596	transcript_secondary_structure_variant		
http://purl.obolibrary.org/obo/SO_0001603	polypeptide_sequence_variant	http://purl.obolibrary.org/obo/SO_0001598	translational_product_structure_variant		
http://purl.obolibrary.org/obo/SO_0001600	complex_3D_structural_variant	http://purl.obolibrary.org/obo/SO_0001599	3D_polypeptide_structure_variant		
http://purl.obolibrary.org/obo/SO_0001601	conformational_change_variant	http://purl.obolibrary.org/obo/SO_0001599	3D_polypeptide_structure_variant		
http://purl.obolibrary.org/obo/SO_0002093	structural_interaction_variant	http://purl.obolibrary.org/obo/SO_0001599	3D_polypeptide_structure_variant		
http://purl.obolibrary.org/obo/SO_0001604	amino_acid_deletion	http://purl.obolibrary.org/obo/SO_0001603	polypeptide_sequence_variant		
http://purl.obolibrary.org/obo/SO_0001605	amino_acid_insertion	http://purl.obolibrary.org/obo/SO_0001603	polypeptide_sequence_variant		
http://purl.obolibrary.org/obo/SO_0001606	amino_acid_substitution	http://purl.obolibrary.org/obo/SO_0001603	polypeptide_sequence_variant		
http://purl.obolibrary.org/obo/SO_0001609	elongated_polypeptide	http://purl.obolibrary.org/obo/SO_0001603	polypeptide_sequence_variant		
http://purl.obolibrary.org/obo/SO_0001616	polypeptide_fusion	http://purl.obolibrary.org/obo/SO_0001603	polypeptide_sequence_variant		
http://purl.obolibrary.org/obo/SO_0001617	polypeptide_truncation	http://purl.obolibrary.org/obo/SO_0001603	polypeptide_sequence_variant		
http://purl.obolibrary.org/obo/SO_0001607	conservative_amino_acid_substitution	http://purl.obolibrary.org/obo/SO_0001606	amino_acid_substitution		
http://purl.obolibrary.org/obo/SO_0001608	non_conservative_amino_acid_substitution	http://purl.obolibrary.org/obo/SO_0001606	amino_acid_substitution		
http://purl.obolibrary.org/obo/SO_0001610	elongated_polypeptide_C_terminal	http://purl.obolibrary.org/obo/SO_0001609	elongated_polypeptide		
http://purl.obolibrary.org/obo/SO_0001611	elongated_polypeptide_N_terminal	http://purl.obolibrary.org/obo/SO_0001609	elongated_polypeptide		
http://purl.obolibrary.org/obo/SO_0001612	elongated_in_frame_polypeptide_C_terminal	http://purl.obolibrary.org/obo/SO_0001610	elongated_polypeptide_C_terminal		
http://purl.obolibrary.org/obo/SO_0001613	elongated_out_of_frame_polypeptide_C_terminal	http://purl.obolibrary.org/obo/SO_0001610	elongated_polypeptide_C_terminal		
http://purl.obolibrary.org/obo/SO_0001614	elongated_in_frame_polypeptide_N_terminal_elongation	http://purl.obolibrary.org/obo/SO_0001611	elongated_polypeptide_N_terminal		
http://purl.obolibrary.org/obo/SO_0001615	elongated_out_of_frame_polypeptide_N_terminal	http://purl.obolibrary.org/obo/SO_0001611	elongated_polypeptide_N_terminal		
http://purl.obolibrary.org/obo/SO_0001620	mature_miRNA_variant	http://purl.obolibrary.org/obo/SO_0001619	non_coding_transcript_variant		
http://purl.obolibrary.org/obo/SO_0001792	non_coding_transcript_exon_variant	http://purl.obolibrary.org/obo/SO_0001791	exon_variant		
http://purl.obolibrary.org/obo/SO_0001970	non_coding_transcript_intron_variant	http://purl.obolibrary.org/obo/SO_0001627	intron_variant		
http://purl.obolibrary.org/obo/SO_0002088	non_coding_transcript_splice_region_variant	http://purl.obolibrary.org/obo/SO_0001630	splice_region_variant		
http://purl.obolibrary.org/obo/SO_0001623	5_prime_UTR_variant	http://purl.obolibrary.org/obo/SO_0001622	UTR_variant		
http://purl.obolibrary.org/obo/SO_0001624	3_prime_UTR_variant	http://purl.obolibrary.org/obo/SO_0001622	UTR_variant		
http://purl.obolibrary.org/obo/SO_0001983	5_prime_UTR_premature_start_codon_variant	http://purl.obolibrary.org/obo/SO_0001623	5_prime_UTR_variant		
http://purl.obolibrary.org/obo/SO_0002013	5_prime_UTR_truncation	http://purl.obolibrary.org/obo/SO_0001623	5_prime_UTR_variant		
http://purl.obolibrary.org/obo/SO_0002014	5_prime_UTR_elongation	http://purl.obolibrary.org/obo/SO_0001623	5_prime_UTR_variant		
http://purl.obolibrary.org/obo/SO_0002091	5_prime_UTR_intron_variant	http://purl.obolibrary.org/obo/SO_0001969	coding_transcript_intron_variant		
http://purl.obolibrary.org/obo/SO_0002092	5_prime_UTR_exon_variant	http://purl.obolibrary.org/obo/SO_0001623	5_prime_UTR_variant		
http://purl.obolibrary.org/obo/SO_0002385	5_prime_UTR_uORF_variant	http://purl.obolibrary.org/obo/SO_0001623	5_prime_UTR_variant		
http://purl.obolibrary.org/obo/SO_0002015	3_prime_UTR_truncation	http://purl.obolibrary.org/obo/SO_0001624	3_prime_UTR_variant		
http://purl.obolibrary.org/obo/SO_0002016	3_prime_UTR_elongation	http://purl.obolibrary.org/obo/SO_0001624	3_prime_UTR_variant		
http://purl.obolibrary.org/obo/SO_0002089	3_prime_UTR_exon_variant	http://purl.obolibrary.org/obo/SO_0001624	3_prime_UTR_variant		
http://purl.obolibrary.org/obo/SO_0002090	3_prime_UTR_intron_variant	http://purl.obolibrary.org/obo/SO_0001969	coding_transcript_intron_variant		
http://purl.obolibrary.org/obo/SO_0001969	coding_transcript_intron_variant	http://purl.obolibrary.org/obo/SO_0001968	coding_transcript_variant		
http://purl.obolibrary.org/obo/SO_0002018	conserved_intron_variant	http://purl.obolibrary.org/obo/SO_0001627	intron_variant		
http://purl.obolibrary.org/obo/SO_0001574	splice_acceptor_variant	http://purl.obolibrary.org/obo/SO_0001629	splice_site_variant		
http://purl.obolibrary.org/obo/SO_0001575	splice_donor_variant	http://purl.obolibrary.org/obo/SO_0001629	splice_site_variant		
http://purl.obolibrary.org/obo/SO_0001787	splice_donor_5th_base_variant	http://purl.obolibrary.org/obo/SO_0001629	splice_site_variant		
http://purl.obolibrary.org/obo/SO_0002084	exonic_splice_region_variant	http://purl.obolibrary.org/obo/SO_0001630	splice_region_variant		
http://purl.obolibrary.org/obo/SO_0002170	splice_donor_region_variant	http://purl.obolibrary.org/obo/SO_0001630	splice_region_variant		
http://purl.obolibrary.org/obo/SO_0001635	5KB_upstream_variant	http://purl.obolibrary.org/obo/SO_0001631	upstream_gene_variant		
http://purl.obolibrary.org/obo/SO_0001636	2KB_upstream_variant	http://purl.obolibrary.org/obo/SO_0001631	upstream_gene_variant		
http://purl.obolibrary.org/obo/SO_0001633	5KB_downstream_variant	http://purl.obolibrary.org/obo/SO_0001632	downstream_gene_variant		
http://purl.obolibrary.org/obo/SO_0001634	500B_downstream_variant	http://purl.obolibrary.org/obo/SO_0001632	downstream_gene_variant		
http://purl.obolibrary.org/obo/SO_0002083	2KB_downstream_variant	http://purl.obolibrary.org/obo/SO_0001632	downstream_gene_variant		
http://purl.obolibrary.org/obo/SO_0001820	inframe_indel	http://purl.obolibrary.org/obo/SO_0001650	inframe_variant		
http://purl.obolibrary.org/obo/SO_0001992	nonsynonymous_variant	http://purl.obolibrary.org/obo/SO_0001650	inframe_variant		
http://purl.obolibrary.org/obo/SO_0001775	maternal_variant	http://purl.obolibrary.org/obo/SO_0001762	variant_origin		
http://purl.obolibrary.org/obo/SO_0001776	paternal_variant	http://purl.obolibrary.org/obo/SO_0001762	variant_origin		
http://purl.obolibrary.org/obo/SO_0001777	somatic_variant	http://purl.obolibrary.org/obo/SO_0001762	variant_origin		
http://purl.obolibrary.org/obo/SO_0001778	germline_variant	http://purl.obolibrary.org/obo/SO_0001762	variant_origin		
http://purl.obolibrary.org/obo/SO_0001580	coding_sequence_variant	http://purl.obolibrary.org/obo/SO_0001968	coding_transcript_variant		
http://purl.obolibrary.org/obo/SO_0001622	UTR_variant	http://purl.obolibrary.org/obo/SO_0001968	coding_transcript_variant		
http://purl.obolibrary.org/obo/SO_0001589	frameshift_variant	http://purl.obolibrary.org/obo/SO_0001818	protein_altering_variant		
http://purl.obolibrary.org/obo/SO_0001650	inframe_variant	http://purl.obolibrary.org/obo/SO_0001818	protein_altering_variant		
http://purl.obolibrary.org/obo/SO_0001821	inframe_insertion	http://purl.obolibrary.org/obo/SO_0001908	internal_feature_elongation		
http://purl.obolibrary.org/obo/SO_0001822	inframe_deletion	http://purl.obolibrary.org/obo/SO_0001906	feature_truncation		
http://purl.obolibrary.org/obo/SO_0001823	conservative_inframe_insertion	http://purl.obolibrary.org/obo/SO_0001821	inframe_insertion		
http://purl.obolibrary.org/obo/SO_0001824	disruptive_inframe_insertion	http://purl.obolibrary.org/obo/SO_0001821	inframe_insertion		
http://purl.obolibrary.org/obo/SO_0001825	conservative_inframe_deletion	http://purl.obolibrary.org/obo/SO_0001822	inframe_deletion		
http://purl.obolibrary.org/obo/SO_0001826	disruptive_inframe_deletion	http://purl.obolibrary.org/obo/SO_0001822	inframe_deletion		
http://purl.obolibrary.org/obo/SO_0001017	silent_mutation	http://purl.obolibrary.org/obo/SO_0001878	feature_variant		
http://purl.obolibrary.org/obo/SO_0001564	gene_variant	http://purl.obolibrary.org/obo/SO_0001878	feature_variant		
http://purl.obolibrary.org/obo/SO_0001566	regulatory_region_variant	http://purl.obolibrary.org/obo/SO_0001878	feature_variant		
http://purl.obolibrary.org/obo/SO_0001906	feature_truncation	http://purl.obolibrary.org/obo/SO_0001878	feature_variant		
http://purl.obolibrary.org/obo/SO_0001907	feature_elongation	http://purl.obolibrary.org/obo/SO_0001878	feature_variant		
http://purl.obolibrary.org/obo/SO_0001628	intergenic_variant	http://purl.obolibrary.org/obo/SO_0001878	feature_variant		
http://purl.obolibrary.org/obo/SO_0001893	transcript_ablation	http://purl.obolibrary.org/obo/SO_0001879	feature_ablation		
http://purl.obolibrary.org/obo/SO_0001894	regulatory_region_ablation	http://purl.obolibrary.org/obo/SO_0001879	feature_ablation		
http://purl.obolibrary.org/obo/SO_0001889	transcript_amplification	http://purl.obolibrary.org/obo/SO_0001880	feature_amplification		
http://purl.obolibrary.org/obo/SO_0001891	regulatory_region_amplification	http://purl.obolibrary.org/obo/SO_0001880	feature_amplification		
http://purl.obolibrary.org/obo/SO_0001883	transcript_translocation	http://purl.obolibrary.org/obo/SO_0001881	feature_translocation		
http://purl.obolibrary.org/obo/SO_0001884	regulatory_region_translocation	http://purl.obolibrary.org/obo/SO_0001881	feature_translocation		
http://purl.obolibrary.org/obo/SO_0001886	transcript_fusion	http://purl.obolibrary.org/obo/SO_0001882	feature_fusion		
http://purl.obolibrary.org/obo/SO_0001887	regulatory_region_fusion	http://purl.obolibrary.org/obo/SO_0001882	feature_fusion		
http://purl.obolibrary.org/obo/SO_0001890	transcript_regulatory_region_fusion	http://purl.obolibrary.org/obo/SO_0001882	feature_fusion		
http://purl.obolibrary.org/obo/SO_0001885	TFBS_translocation	http://purl.obolibrary.org/obo/SO_0001884	regulatory_region_translocation		
http://purl.obolibrary.org/obo/SO_0001888	TFBS_fusion	http://purl.obolibrary.org/obo/SO_0001887	regulatory_region_fusion		
http://purl.obolibrary.org/obo/SO_0001892	TFBS_amplification	http://purl.obolibrary.org/obo/SO_0001891	regulatory_region_amplification		
http://purl.obolibrary.org/obo/SO_0001895	TFBS_ablation	http://purl.obolibrary.org/obo/SO_0001894	regulatory_region_ablation		
http://purl.obolibrary.org/obo/SO_0001587	stop_gained	http://purl.obolibrary.org/obo/SO_0001992	nonsynonymous_variant		
http://purl.obolibrary.org/obo/SO_0001908	internal_feature_elongation	http://purl.obolibrary.org/obo/SO_0001907	feature_elongation		
http://purl.obolibrary.org/obo/SO_0001988	5_prime_UTR_premature_start_codon_gain_variant	http://purl.obolibrary.org/obo/SO_0001983	5_prime_UTR_premature_start_codon_variant		
http://purl.obolibrary.org/obo/SO_0001989	5_prime_UTR_premature_start_codon_loss_variant	http://purl.obolibrary.org/obo/SO_0001983	5_prime_UTR_premature_start_codon_variant		
http://purl.obolibrary.org/obo/SO_0001990	five_prime_UTR_premature_start_codon_location_variant	http://purl.obolibrary.org/obo/SO_0001983	5_prime_UTR_premature_start_codon_variant		
http://purl.obolibrary.org/obo/SO_0001583	missense_variant	http://purl.obolibrary.org/obo/SO_0001992	nonsynonymous_variant		
http://purl.obolibrary.org/obo/SO_0002009	selenocysteine_loss	http://purl.obolibrary.org/obo/SO_0002008	rare_amino_acid_variant		
http://purl.obolibrary.org/obo/SO_0002010	pyrrolysine_loss	http://purl.obolibrary.org/obo/SO_0002008	rare_amino_acid_variant		
http://purl.obolibrary.org/obo/SO_0002398	selenocysteine_gain	http://purl.obolibrary.org/obo/SO_0002008	rare_amino_acid_variant		
http://purl.obolibrary.org/obo/SO_0002317	absent_gene_product	http://purl.obolibrary.org/obo/SO_0002316	decreased_gene_product_level		
http://purl.obolibrary.org/obo/SO_0002076	incomplete_transcript_3UTR_variant	http://purl.obolibrary.org/obo/SO_0002075	incomplete_transcript_variant		
http://purl.obolibrary.org/obo/SO_0002077	incomplete_transcript_5UTR_variant	http://purl.obolibrary.org/obo/SO_0002075	incomplete_transcript_variant		
http://purl.obolibrary.org/obo/SO_0002078	incomplete_transcript_intronic_variant	http://purl.obolibrary.org/obo/SO_0002075	incomplete_transcript_variant		
http://purl.obolibrary.org/obo/SO_0002079	incomplete_transcript_splice_region_variant	http://purl.obolibrary.org/obo/SO_0002075	incomplete_transcript_variant		
http://purl.obolibrary.org/obo/SO_0002080	incomplete_transcript_exonic_variant	http://purl.obolibrary.org/obo/SO_0002075	incomplete_transcript_variant		
http://purl.obolibrary.org/obo/SO_0002081	incomplete_transcript_CDS	http://purl.obolibrary.org/obo/SO_0002075	incomplete_transcript_variant		
http://purl.obolibrary.org/obo/SO_0002082	incomplete_transcript_coding_splice_variant	http://purl.obolibrary.org/obo/SO_0002079	incomplete_transcript_splice_region_variant		
http://purl.obolibrary.org/obo/SO_0002400	frameshift_unidirectional_gene_fusion	http://purl.obolibrary.org/obo/SO_0002085	unidirectional_gene_fusion		
http://purl.obolibrary.org/obo/SO_1000029	chromosomal_deletion	http://purl.obolibrary.org/obo/SO_1000028	intrachromosomal_mutation		
http://purl.obolibrary.org/obo/SO_1000030	chromosomal_inversion	http://purl.obolibrary.org/obo/SO_1000028	intrachromosomal_mutation		
http://purl.obolibrary.org/obo/SO_1000045	ring_chromosome	http://purl.obolibrary.org/obo/SO_1000028	intrachromosomal_mutation		
http://purl.obolibrary.org/obo/SO_0002060	interchromosomal_translocation	http://purl.obolibrary.org/obo/SO_1000044	chromosomal_translocation		
http://purl.obolibrary.org/obo/SO_1000028	intrachromosomal_mutation	http://purl.obolibrary.org/obo/SO_1000183	chromosome_structure_variation		
http://purl.obolibrary.org/obo/SO_1000037	chromosomal_duplication	http://purl.obolibrary.org/obo/SO_1000183	chromosome_structure_variation		
http://purl.obolibrary.org/obo/SO_1000044	chromosomal_translocation	http://purl.obolibrary.org/obo/SO_0000199	translocation		
http://purl.obolibrary.org/obo/SYMP_0000195	abnormal hemiwalking hemistanding	http://purl.obolibrary.org/obo/SYMP_0000189	postural reaction		
http://purl.obolibrary.org/obo/SYMP_0000670	abnormal hemiwalking	http://purl.obolibrary.org/obo/SYMP_0000189	postural reaction		
http://purl.obolibrary.org/obo/SYMP_0000190	wheelbarrowing	http://purl.obolibrary.org/obo/SYMP_0000189	postural reaction		
http://purl.obolibrary.org/obo/SYMP_0000669	abnormal hemistanding	http://purl.obolibrary.org/obo/SYMP_0000189	postural reaction		
http://purl.obolibrary.org/obo/NCBITaxon_73230	[Emmonsia] crescens	http://purl.obolibrary.org/obo/NCBITaxon_1955773	Emergomyces		
http://purl.obolibrary.org/obo/NCBITaxon_337687	Muroidea	http://purl.obolibrary.org/obo/NCBITaxon_1963758	Myomorpha		
http://purl.obolibrary.org/obo/UBERON_0016566	pit	http://purl.obolibrary.org/obo/UBERON_0036215	anatomical surface region		
http://purl.obolibrary.org/obo/NCBITaxon_6246	Strongyloididae	http://purl.obolibrary.org/obo/NCBITaxon_2082224	Strongyloidoidea		
http://purl.obolibrary.org/obo/NCBITaxon_60516	Dibothriocephalus latus	http://purl.obolibrary.org/obo/NCBITaxon_2267273	Dibothriocephalus		
http://purl.obolibrary.org/obo/CHEBI_53662	biguanides	http://purl.obolibrary.org/obo/CHEBI_24436	guanidines		
http://purl.obolibrary.org/obo/CHEBI_55373	isoxazoles	http://purl.obolibrary.org/obo/CHEBI_35790	oxazole		
http://purl.obolibrary.org/obo/CHEBI_26401	purines	http://purl.obolibrary.org/obo/CHEBI_35875	imidazopyrimidine		
http://purl.obolibrary.org/obo/CHEBI_22693	barbiturates	http://purl.obolibrary.org/obo/CHEBI_38337	pyrimidone		
http://purl.obolibrary.org/obo/CHEBI_33365	platinum group metal atom	http://purl.obolibrary.org/obo/CHEBI_27081	transition element atom		
http://purl.obolibrary.org/obo/CHEBI_36388	saturated organic heterocyclic parent	http://purl.obolibrary.org/obo/CHEBI_35552	heterocyclic organic fundamental parent		
http://purl.obolibrary.org/obo/CHEBI_36607	cyclic acid anhydride	http://purl.obolibrary.org/obo/CHEBI_36606	acid anhydride		
http://purl.obolibrary.org/obo/CHEBI_53556	toluene 2,4-diisocyanate	http://purl.obolibrary.org/obo/CHEBI_53555	toluene meta-diisocyanate		
http://purl.obolibrary.org/obo/SO_0000135	maternally_imprinted	http://purl.obolibrary.org/obo/SO_0000400	sequence_attribute		
http://purl.obolibrary.org/obo/SO_0001762	variant_origin	http://purl.obolibrary.org/obo/SO_0000400	sequence_attribute		
http://purl.obolibrary.org/obo/SO_0001059	sequence_alteration	http://purl.obolibrary.org/obo/SO_0002072	sequence_comparison		
http://purl.obolibrary.org/obo/NCBITaxon_5552	Trichosporon	http://purl.obolibrary.org/obo/NCBITaxon_1759442	Trichosporonaceae		
http://purl.obolibrary.org/obo/NCBITaxon_333754	Alphapapillomavirus 10	http://purl.obolibrary.org/obo/NCBITaxon_333750	Alphapapillomavirus		
http://purl.obolibrary.org/obo/NCBITaxon_32594	Babesiidae	http://purl.obolibrary.org/obo/NCBITaxon_5863	Piroplasmida		
http://purl.obolibrary.org/obo/NCBITaxon_31244	Schistosomatoidea	http://purl.obolibrary.org/obo/NCBITaxon_6180	Strigeidida		
http://purl.obolibrary.org/obo/NCBITaxon_27847	Echinostoma	http://purl.obolibrary.org/obo/NCBITaxon_99737	Echinostomatidae		
http://purl.obolibrary.org/obo/NCBITaxon_3052189	Erythroparvovirus primate1	http://purl.obolibrary.org/obo/NCBITaxon_40121	Erythroparvovirus		
http://purl.obolibrary.org/obo/NCBITaxon_1538075	Malasseziomycetes	http://purl.obolibrary.org/obo/NCBITaxon_452284	Ustilaginomycotina		
http://purl.obolibrary.org/obo/NCBITaxon_742845	Malasseziaceae	http://purl.obolibrary.org/obo/NCBITaxon_162474	Malasseziales		
http://purl.obolibrary.org/obo/NCBITaxon_1759442	Trichosporonaceae	http://purl.obolibrary.org/obo/NCBITaxon_1851469	Trichosporonales		
http://purl.obolibrary.org/obo/NCBITaxon_55193	Malassezia	http://purl.obolibrary.org/obo/NCBITaxon_742845	Malasseziaceae		
http://purl.obolibrary.org/obo/SYMP_0000531	splenomegaly	http://purl.obolibrary.org/obo/SYMP_0000158	spleen symptom		
http://purl.obolibrary.org/obo/NCBITaxon_629	Yersinia <enterobacteria>	http://purl.obolibrary.org/obo/NCBITaxon_1903411	Yersiniaceae		
http://purl.obolibrary.org/obo/NCBITaxon_160148	Troctomorpha	http://purl.obolibrary.org/obo/NCBITaxon_1930602	Psocodea		
http://purl.obolibrary.org/obo/NCBITaxon_2560074	Mammantavirinae	http://purl.obolibrary.org/obo/NCBITaxon_1980413	Hantaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_1980517	Orthonairovirus	http://purl.obolibrary.org/obo/NCBITaxon_1980415	Nairoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_1980456	Orthohantavirus andesense	http://purl.obolibrary.org/obo/NCBITaxon_1980442	Orthohantavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052480	Orthohantavirus hantanense	http://purl.obolibrary.org/obo/NCBITaxon_1980442	Orthohantavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052493	Orthohantavirus puumalaense	http://purl.obolibrary.org/obo/NCBITaxon_1980442	Orthohantavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052498	Orthohantavirus seoulense	http://purl.obolibrary.org/obo/NCBITaxon_1980442	Orthohantavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3431295	Orthohantavirus mamorense	http://purl.obolibrary.org/obo/NCBITaxon_1980442	Orthohantavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052470	Orthohantavirus bayoui	http://purl.obolibrary.org/obo/NCBITaxon_1980442	Orthohantavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052477	Orthohantavirus dobravaense	http://purl.obolibrary.org/obo/NCBITaxon_1980442	Orthohantavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052490	Orthohantavirus nigrorivense	http://purl.obolibrary.org/obo/NCBITaxon_1980442	Orthohantavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052499	Orthohantavirus sinnombreense	http://purl.obolibrary.org/obo/NCBITaxon_1980442	Orthohantavirus		
http://purl.obolibrary.org/obo/NCBITaxon_10508	Adenoviridae	http://purl.obolibrary.org/obo/NCBITaxon_2732559	Rowavirales		
http://purl.obolibrary.org/obo/NCBITaxon_10293	Alphaherpesvirinae	http://purl.obolibrary.org/obo/NCBITaxon_3044472	Orthoherpesviridae		
http://purl.obolibrary.org/obo/NCBITaxon_10357	Betaherpesvirinae	http://purl.obolibrary.org/obo/NCBITaxon_3044472	Orthoherpesviridae		
http://purl.obolibrary.org/obo/NCBITaxon_10374	Gammaherpesvirinae	http://purl.obolibrary.org/obo/NCBITaxon_3044472	Orthoherpesviridae		
http://purl.obolibrary.org/obo/GENO_0000941	Y-linked inheritance	http://purl.obolibrary.org/obo/GENO_0000935	allosomal inheritance		
http://purl.obolibrary.org/obo/GENO_0000936	X-linked inheritance	http://purl.obolibrary.org/obo/GENO_0000935	allosomal inheritance		
http://purl.obolibrary.org/obo/SYMP_0020064	high blood pressure	http://purl.obolibrary.org/obo/SYMP_0020063	blood pressure		
http://purl.obolibrary.org/obo/SO_0001631	upstream_gene_variant	http://purl.obolibrary.org/obo/SO_0001628	intergenic_variant		
http://purl.obolibrary.org/obo/SO_0001632	downstream_gene_variant	http://purl.obolibrary.org/obo/SO_0001628	intergenic_variant		
http://purl.obolibrary.org/obo/SO_0001986	upstream_transcript_variant	http://purl.obolibrary.org/obo/SO_0001628	intergenic_variant		
http://purl.obolibrary.org/obo/SO_0001987	downstream_transcript_variant	http://purl.obolibrary.org/obo/SO_0001628	intergenic_variant		
http://purl.obolibrary.org/obo/SO_0002017	conserved_intergenic_variant	http://purl.obolibrary.org/obo/SO_0001628	intergenic_variant		
http://purl.obolibrary.org/obo/SO_0002074	intergenic_1kb_variant	http://purl.obolibrary.org/obo/SO_0001628	intergenic_variant		
http://purl.obolibrary.org/obo/NCBITaxon_11632	Retroviridae	http://purl.obolibrary.org/obo/NCBITaxon_2169561	Ortervirales		
http://purl.obolibrary.org/obo/GENO_0000932	polygenic inheritance	http://purl.obolibrary.org/obo/GENO_0000929	multifactorial inheritance		
http://purl.obolibrary.org/obo/GENO_0000930	digenic inheritance	http://purl.obolibrary.org/obo/GENO_0000929	multifactorial inheritance		
http://purl.obolibrary.org/obo/GENO_0000931	oligogenic inheritance	http://purl.obolibrary.org/obo/GENO_0000929	multifactorial inheritance		
http://purl.obolibrary.org/obo/GENO_0000892	heteroplasmic mitochondrial inheritance	http://purl.obolibrary.org/obo/GENO_0000949	mitochondrial inheritance		
http://purl.obolibrary.org/obo/GENO_0000893	homoplasmic mitochondrial inheritance	http://purl.obolibrary.org/obo/GENO_0000949	mitochondrial inheritance		
http://purl.obolibrary.org/obo/NCBITaxon_11072	Japanese encephalitis virus	http://purl.obolibrary.org/obo/NCBITaxon_3048158	Orthoflavivirus japonicum		
http://purl.obolibrary.org/obo/NCBITaxon_11086	Louping ill virus	http://purl.obolibrary.org/obo/NCBITaxon_3048184	Orthoflavivirus loupingi		
http://purl.obolibrary.org/obo/NCBITaxon_11079	Murray Valley encephalitis virus	http://purl.obolibrary.org/obo/NCBITaxon_3048215	Orthoflavivirus murrayense		
http://purl.obolibrary.org/obo/NCBITaxon_11083	Powassan virus	http://purl.obolibrary.org/obo/NCBITaxon_3048287	Orthoflavivirus powassanense		
http://purl.obolibrary.org/obo/NCBITaxon_11082	West Nile virus	http://purl.obolibrary.org/obo/NCBITaxon_3048448	Orthoflavivirus nilense		
http://purl.obolibrary.org/obo/NCBITaxon_11320	Influenza A virus	http://purl.obolibrary.org/obo/NCBITaxon_2955291	Alphainfluenzavirus influenzae		
http://purl.obolibrary.org/obo/NCBITaxon_11250	human respiratory syncytial virus	http://purl.obolibrary.org/obo/NCBITaxon_3049954	Orthopneumovirus hominis		
http://purl.obolibrary.org/obo/NCBITaxon_11552	Influenza C virus	http://purl.obolibrary.org/obo/NCBITaxon_2955935	Gammainfluenzavirus influenzae		
http://purl.obolibrary.org/obo/NCBITaxon_11577	La Crosse virus	http://purl.obolibrary.org/obo/NCBITaxon_3052409	Orthobunyavirus lacrosseense		
http://purl.obolibrary.org/obo/NCBITaxon_118655	Oropouche virus	http://purl.obolibrary.org/obo/NCBITaxon_3052429	Orthobunyavirus oropoucheense		
http://purl.obolibrary.org/obo/NCBITaxon_213849	Campylobacterales	http://purl.obolibrary.org/obo/NCBITaxon_3031852	Epsilonproteobacteria		
http://purl.obolibrary.org/obo/NCBITaxon_2560319	avian paramyxovirus 1	http://purl.obolibrary.org/obo/NCBITaxon_3051375	Orthoavulavirus javaense		
http://purl.obolibrary.org/obo/HP_0025780	Abnormal volitional state	http://purl.obolibrary.org/obo/HP_0025766	Abnormal affect		
http://purl.obolibrary.org/obo/HP_0034434	Abnormal communication	http://purl.obolibrary.org/obo/HP_0025792	Abnormal cognitive process		
http://purl.obolibrary.org/obo/NCBITaxon_2842321	Kolmioviridae	http://purl.obolibrary.org/obo/NCBITaxon_3471199	Ribozyviria incertae sedis		
http://purl.obolibrary.org/obo/CL_0011026	progenitor cell	http://purl.obolibrary.org/obo/CL_0011115	precursor cell		
http://purl.obolibrary.org/obo/SO_0000340	chromosome	http://purl.obolibrary.org/obo/SO_0001411	biological_region		
http://purl.obolibrary.org/obo/SO_0000704	gene	http://purl.obolibrary.org/obo/SO_0001411	biological_region		
http://purl.obolibrary.org/obo/SO_0000159	deletion	http://purl.obolibrary.org/obo/SO_0001059	sequence_alteration		
http://purl.obolibrary.org/obo/SO_1000035	duplication	http://purl.obolibrary.org/obo/SO_0001059	sequence_alteration		
http://purl.obolibrary.org/obo/NCBITaxon_3050295	Cytomegalovirus humanbeta5	http://purl.obolibrary.org/obo/NCBITaxon_10358	Cytomegalovirus		
http://purl.obolibrary.org/obo/NCBITaxon_1230527	Curvularia hawaiiensis	http://purl.obolibrary.org/obo/NCBITaxon_5502	Curvularia		
http://purl.obolibrary.org/obo/NCBITaxon_6249	Ascaridomorpha	http://purl.obolibrary.org/obo/NCBITaxon_6274	Spirurina		
http://purl.obolibrary.org/obo/NCBITaxon_2072717	Gnathostomatomorpha	http://purl.obolibrary.org/obo/NCBITaxon_6274	Spirurina		
http://purl.obolibrary.org/obo/NCBITaxon_91942	Hortaea	http://purl.obolibrary.org/obo/NCBITaxon_668547	Teratosphaeriaceae		
http://purl.obolibrary.org/obo/NCBITaxon_5052	Aspergillus	http://purl.obolibrary.org/obo/NCBITaxon_1131492	Aspergillaceae		
http://purl.obolibrary.org/obo/NCBITaxon_3049954	Orthopneumovirus hominis	http://purl.obolibrary.org/obo/NCBITaxon_1868215	Orthopneumovirus		
http://purl.obolibrary.org/obo/NCBITaxon_3977	Euphorbiaceae	http://purl.obolibrary.org/obo/NCBITaxon_3646	Malpighiales		
http://purl.obolibrary.org/obo/NCBITaxon_235631	Crotonoideae	http://purl.obolibrary.org/obo/NCBITaxon_3977	Euphorbiaceae		
http://purl.obolibrary.org/obo/NCBITaxon_40355	Fonsecaea pedrosoi	http://purl.obolibrary.org/obo/NCBITaxon_40354	Fonsecaea		
http://purl.obolibrary.org/obo/NCBITaxon_86057	Fonsecaea compacta	http://purl.obolibrary.org/obo/NCBITaxon_40354	Fonsecaea		
http://purl.obolibrary.org/obo/NCBITaxon_28843	Diphyllobothriidae	http://purl.obolibrary.org/obo/NCBITaxon_1224679	Diphyllobothriidea		
http://purl.obolibrary.org/obo/NCBITaxon_121739	Lacazia	http://purl.obolibrary.org/obo/NCBITaxon_1593277	Onygenales incertae sedis		
http://purl.obolibrary.org/obo/NCBITaxon_3052225	Henipavirus nipahense	http://purl.obolibrary.org/obo/NCBITaxon_260964	Henipavirus		
http://purl.obolibrary.org/obo/NCBITaxon_2267273	Dibothriocephalus	http://purl.obolibrary.org/obo/NCBITaxon_28843	Diphyllobothriidae		
http://purl.obolibrary.org/obo/NCBITaxon_11646	Lentivirus	http://purl.obolibrary.org/obo/NCBITaxon_1233735	unclassified Orthoretrovirinae		
http://purl.obolibrary.org/obo/NCBITaxon_1239	Bacillota	http://purl.obolibrary.org/obo/NCBITaxon_1783272	Bacillati		
http://purl.obolibrary.org/obo/NCBITaxon_201174	Actinomycetota	http://purl.obolibrary.org/obo/NCBITaxon_1783272	Bacillati		
http://purl.obolibrary.org/obo/NCBITaxon_544448	Mycoplasmatota	http://purl.obolibrary.org/obo/NCBITaxon_1783272	Bacillati		
http://purl.obolibrary.org/obo/NCBITaxon_3980	Hevea	http://purl.obolibrary.org/obo/NCBITaxon_235882	Micrandreae		
http://purl.obolibrary.org/obo/NCBITaxon_7160	Aedes albopictus	http://purl.obolibrary.org/obo/NCBITaxon_53541	Stegomyia		
http://purl.obolibrary.org/obo/NCBITaxon_5741	Giardia duodenalis	http://purl.obolibrary.org/obo/NCBITaxon_5740	Giardia		
http://purl.obolibrary.org/obo/NCBITaxon_147572	Piedraia	http://purl.obolibrary.org/obo/NCBITaxon_147571	Piedraiaceae		
http://purl.obolibrary.org/obo/NCBITaxon_147573	Piedraia hortae	http://purl.obolibrary.org/obo/NCBITaxon_147572	Piedraia		
http://purl.obolibrary.org/obo/NCBITaxon_85819	Phthiraptera	http://purl.obolibrary.org/obo/NCBITaxon_160148	Troctomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_6312	Angiostrongylus	http://purl.obolibrary.org/obo/NCBITaxon_55271	Metastrongylidae		
http://purl.obolibrary.org/obo/NCBITaxon_5039	Blastomyces dermatitidis	http://purl.obolibrary.org/obo/NCBITaxon_229219	Blastomyces		
http://purl.obolibrary.org/obo/NCBITaxon_2060905	Blastomyces parvus	http://purl.obolibrary.org/obo/NCBITaxon_229219	Blastomyces		
http://purl.obolibrary.org/obo/NCBITaxon_2682482	Mastigamoebida	http://purl.obolibrary.org/obo/NCBITaxon_555406	Archamoebae		
http://purl.obolibrary.org/obo/NCBITaxon_1714621	Borna disease virus 1	http://purl.obolibrary.org/obo/NCBITaxon_1714619	Orthobornavirus bornaense		
http://purl.obolibrary.org/obo/NCBITaxon_181550	Trichomonadidae	http://purl.obolibrary.org/obo/NCBITaxon_37104	Trichomonadida		
http://purl.obolibrary.org/obo/NCBITaxon_79923	Clonorchis sinensis	http://purl.obolibrary.org/obo/NCBITaxon_79922	Clonorchis		
http://purl.obolibrary.org/obo/NCBITaxon_235882	Micrandreae	http://purl.obolibrary.org/obo/NCBITaxon_235631	Crotonoideae		
http://purl.obolibrary.org/obo/NCBITaxon_91943	Hortaea werneckii	http://purl.obolibrary.org/obo/NCBITaxon_91942	Hortaea		
http://purl.obolibrary.org/obo/NCBITaxon_5740	Giardia	http://purl.obolibrary.org/obo/NCBITaxon_68459	Giardiinae		
http://purl.obolibrary.org/obo/NCBITaxon_6333	Trichinella	http://purl.obolibrary.org/obo/NCBITaxon_6332	Trichinellidae		
http://purl.obolibrary.org/obo/FOODON_00002319	trout food product	http://purl.obolibrary.org/obo/FOODON_00001623	atlantic salmon and trout food product		
http://purl.obolibrary.org/obo/FOODON_00001705	leaf celery food product	http://purl.obolibrary.org/obo/FOODON_00001704	celery food product		
http://purl.obolibrary.org/obo/FOODON_00002239	shrimp food product	http://purl.obolibrary.org/obo/FOODON_00001792	crustacean food product		
http://purl.obolibrary.org/obo/FOODON_00002244	snail food product	http://purl.obolibrary.org/obo/FOODON_00002044	mollusc food product		
http://purl.obolibrary.org/obo/FOODON_00002185	rainbow trout food product	http://purl.obolibrary.org/obo/FOODON_00002075	pacific salmon food product		
http://purl.obolibrary.org/obo/FOODON_00001164	tomato food product	http://purl.obolibrary.org/obo/FOODON_00001163	solanaceous fruit food product		
http://purl.obolibrary.org/obo/FOODON_00001704	celery food product	http://purl.obolibrary.org/obo/FOODON_00001015	plant food product		
http://purl.obolibrary.org/obo/FOODON_00001623	atlantic salmon and trout food product	http://purl.obolibrary.org/obo/FOODON_00002220	salmon food product		
http://purl.obolibrary.org/obo/FOODON_00002075	pacific salmon food product	http://purl.obolibrary.org/obo/FOODON_00002220	salmon food product		
http://purl.obolibrary.org/obo/FOODON_00001615	apricot food product	http://purl.obolibrary.org/obo/FOODON_00002277	stone fruit food product		
http://purl.obolibrary.org/obo/FOODON_00001717	cherry food product	http://purl.obolibrary.org/obo/FOODON_00002277	stone fruit food product		
http://purl.obolibrary.org/obo/FOODON_00002095	peach food product	http://purl.obolibrary.org/obo/FOODON_00002277	stone fruit food product		
http://purl.obolibrary.org/obo/FOODON_00002161	plum fruit food product	http://purl.obolibrary.org/obo/FOODON_00002277	stone fruit food product		
http://purl.obolibrary.org/obo/NCBITaxon_2704949	Trypanosomatida	http://purl.obolibrary.org/obo/NCBITaxon_2704647	Metakinetoplastina		
http://purl.obolibrary.org/obo/NCBITaxon_5654	Trypanosomatidae	http://purl.obolibrary.org/obo/NCBITaxon_2704949	Trypanosomatida		
http://purl.obolibrary.org/obo/NCBITaxon_11020	Barmah Forest virus	http://purl.obolibrary.org/obo/NCBITaxon_3426294	Alphavirus barmah		
http://purl.obolibrary.org/obo/NCBITaxon_11021	Eastern equine encephalitis virus	http://purl.obolibrary.org/obo/NCBITaxon_3426299	Alphavirus eastern		
http://purl.obolibrary.org/obo/NCBITaxon_11029	Ross River virus	http://purl.obolibrary.org/obo/NCBITaxon_3426314	Alphavirus rossriver		
http://purl.obolibrary.org/obo/NCBITaxon_11039	Western equine encephalitis virus	http://purl.obolibrary.org/obo/NCBITaxon_3426323	Alphavirus western		
http://purl.obolibrary.org/obo/NCBITaxon_11617	Arenaviridae	http://purl.obolibrary.org/obo/NCBITaxon_3151839	Hareavirales		
http://purl.obolibrary.org/obo/NCBITaxon_1980415	Nairoviridae	http://purl.obolibrary.org/obo/NCBITaxon_3151839	Hareavirales		
http://purl.obolibrary.org/obo/NCBITaxon_1980418	Phenuiviridae	http://purl.obolibrary.org/obo/NCBITaxon_3151839	Hareavirales		
http://purl.obolibrary.org/obo/NCBITaxon_12059	Enterovirus	http://purl.obolibrary.org/obo/NCBITaxon_2960224	unclassified Ensavirinae		
http://purl.obolibrary.org/obo/NCBITaxon_12092	Hepatovirus A	http://purl.obolibrary.org/obo/NCBITaxon_3407641	Hepatovirus ahepa		
http://purl.obolibrary.org/obo/NCBITaxon_1335626	Middle East respiratory syndrome-related coronavirus	http://purl.obolibrary.org/obo/NCBITaxon_3433633	Betacoronavirus cameli		
http://purl.obolibrary.org/obo/NCBITaxon_138948	Enterovirus A	http://purl.obolibrary.org/obo/NCBITaxon_3428500	Enterovirus alphacoxsackie		
http://purl.obolibrary.org/obo/NCBITaxon_138949	Enterovirus B	http://purl.obolibrary.org/obo/NCBITaxon_3428502	Enterovirus betacoxsackie		
http://purl.obolibrary.org/obo/NCBITaxon_138950	Enterovirus C	http://purl.obolibrary.org/obo/NCBITaxon_3428505	Enterovirus coxsackiepol		
http://purl.obolibrary.org/obo/NCBITaxon_138951	Enterovirus D	http://purl.obolibrary.org/obo/NCBITaxon_3428506	Enterovirus deconjuncti		
http://purl.obolibrary.org/obo/NCBITaxon_151340	Papillomaviridae	http://purl.obolibrary.org/obo/NCBITaxon_2788857	unclassified Zurhausenvirales		
http://purl.obolibrary.org/obo/NCBITaxon_194440	Primate T-lymphotropic virus 1	http://purl.obolibrary.org/obo/NCBITaxon_3428212	Deltaretrovirus priTlym1		
http://purl.obolibrary.org/obo/NCBITaxon_2169701	Onyong-nyong virus	http://purl.obolibrary.org/obo/NCBITaxon_3426312	Alphavirus onyong		
http://purl.obolibrary.org/obo/NCBITaxon_694009	Severe acute respiratory syndrome-related coronavirus	http://purl.obolibrary.org/obo/NCBITaxon_3418604	Betacoronavirus pandemicum		
http://purl.obolibrary.org/obo/NCBITaxon_2697049	Severe acute respiratory syndrome coronavirus 2	http://purl.obolibrary.org/obo/NCBITaxon_3418604	Betacoronavirus pandemicum		
http://purl.obolibrary.org/obo/NCBITaxon_2732541	Reovirales	http://purl.obolibrary.org/obo/NCBITaxon_2788829	unclassified Resentoviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_2732559	Rowavirales	http://purl.obolibrary.org/obo/NCBITaxon_3412727	Pharingeaviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_2748762	Colorado tick fever coltivirus	http://purl.obolibrary.org/obo/NCBITaxon_3428066	Coltivirus dermacentoris		
http://purl.obolibrary.org/obo/NCBITaxon_3412727	Pharingeaviricetes	http://purl.obolibrary.org/obo/NCBITaxon_3412694	Polisuviricotina		
http://purl.obolibrary.org/obo/NCBITaxon_37124	Chikungunya virus	http://purl.obolibrary.org/obo/NCBITaxon_3426298	Alphavirus chikungunya		
http://purl.obolibrary.org/obo/SO_0002072	sequence_comparison	http://purl.obolibrary.org/obo/SO_0000110	sequence_feature		
http://purl.obolibrary.org/obo/SO_0001411	biological_region	http://purl.obolibrary.org/obo/SO_0000110	sequence_feature		
http://purl.obolibrary.org/obo/SO_0002245	five_prime_duplicated_transcript	http://purl.obolibrary.org/obo/SO_0002244	partially_duplicated_transcript		
http://purl.obolibrary.org/obo/SO_0002246	three_prime_duplicated_transcript	http://purl.obolibrary.org/obo/SO_0002244	partially_duplicated_transcript		
http://purl.obolibrary.org/obo/NCBITaxon_10359	Human betaherpesvirus 5	http://purl.obolibrary.org/obo/NCBITaxon_3050295	Cytomegalovirus humanbeta5		
http://purl.obolibrary.org/obo/NCBITaxon_10372	Human betaherpesvirus 7	http://purl.obolibrary.org/obo/NCBITaxon_3050298	Roseolovirus humanbeta7		
http://purl.obolibrary.org/obo/NCBITaxon_10376	human gammaherpesvirus 4	http://purl.obolibrary.org/obo/NCBITaxon_3050299	Lymphocryptovirus humangamma4		
http://purl.obolibrary.org/obo/CL_0008034	mural cell	http://purl.obolibrary.org/obo/CL_4033054	perivascular cell		
http://purl.obolibrary.org/obo/SYMP_0000585	sleep related movement disorder	http://purl.obolibrary.org/obo/SYMP_0000566	sleep disturbance		
http://purl.obolibrary.org/obo/SO_0001260	sequence_collection	http://purl.obolibrary.org/obo/doid#sequence	sequence		
http://purl.obolibrary.org/obo/SO_0001060	sequence_variant	http://purl.obolibrary.org/obo/doid#sequence	sequence		
http://purl.obolibrary.org/obo/SO_0000400	sequence_attribute	http://purl.obolibrary.org/obo/doid#sequence	sequence		
http://purl.obolibrary.org/obo/SO_0000110	sequence_feature	http://purl.obolibrary.org/obo/doid#sequence	sequence		
http://purl.obolibrary.org/obo/GENO_0000146	X-linked dominant inheritance	http://purl.obolibrary.org/obo/GENO_0000936	X-linked inheritance		
http://purl.obolibrary.org/obo/GENO_0000149	X-linked recessive inheritance	http://purl.obolibrary.org/obo/GENO_0000936	X-linked inheritance		
http://purl.obolibrary.org/obo/GENO_0000935	allosomal inheritance	http://purl.obolibrary.org/obo/GENO_0000933	monogenic inheritance		
http://purl.obolibrary.org/obo/GENO_0000934	autosomal inheritance	http://purl.obolibrary.org/obo/GENO_0000933	monogenic inheritance		
http://purl.obolibrary.org/obo/HP_0032252	Granuloma	http://purl.obolibrary.org/obo/HP_0032251	Abnormal immune system morphology		
http://purl.obolibrary.org/obo/HP_0033095	Increased sulfur amino acid level in urine	http://purl.obolibrary.org/obo/HP_0033100	Increased proteinogenic amino acid level in urine		
http://purl.obolibrary.org/obo/HP_0004338	Abnormal circulating aromatic amino acid concentration	http://purl.obolibrary.org/obo/HP_0033107	Abnormal circulating proteinogenic amino acid concentration		
http://purl.obolibrary.org/obo/HP_0000924	Abnormality of the skeletal system	http://purl.obolibrary.org/obo/HP_0033127	Abnormality of the musculoskeletal system		
http://purl.obolibrary.org/obo/FOODON_00002487	jujube fruit (raw)	http://purl.obolibrary.org/obo/FOODON_00003652	jujube fruit		
http://purl.obolibrary.org/obo/NCBITaxon_11084	Tick-borne encephalitis virus	http://purl.obolibrary.org/obo/NCBITaxon_3052465	Orthoflavivirus encephalitidis		
http://purl.obolibrary.org/obo/NCBITaxon_11080	St. Louis encephalitis virus	http://purl.obolibrary.org/obo/NCBITaxon_3052468	Orthoflavivirus louisense		
http://purl.obolibrary.org/obo/NCBITaxon_11588	Rift Valley fever virus	http://purl.obolibrary.org/obo/NCBITaxon_3052676	Phlebovirus riftense		
http://purl.obolibrary.org/obo/NCBITaxon_12637	Dengue virus	http://purl.obolibrary.org/obo/NCBITaxon_3052464	Orthoflavivirus denguei		
http://purl.obolibrary.org/obo/FOODON_00001165	solanaceous food product	http://purl.obolibrary.org/obo/FOODON_00001015	plant food product		
http://purl.obolibrary.org/obo/FOODON_00001175	plant stem food product	http://purl.obolibrary.org/obo/FOODON_00001015	plant food product		
http://purl.obolibrary.org/obo/FOODON_00001242	spice or herb	http://purl.obolibrary.org/obo/FOODON_00001015	plant food product		
http://purl.obolibrary.org/obo/FOODON_00001261	vegetable food product	http://purl.obolibrary.org/obo/FOODON_00001015	plant food product		
http://purl.obolibrary.org/obo/FOODON_00001262	botanical fruit food product	http://purl.obolibrary.org/obo/FOODON_00001015	plant food product		
http://purl.obolibrary.org/obo/FOODON_00001293	shellfish food product	http://purl.obolibrary.org/obo/FOODON_00004242	animal food product		
http://purl.obolibrary.org/obo/FOODON_00002141	plant fruit as vegetable food product	http://purl.obolibrary.org/obo/FOODON_00001057	plant fruit food product		
http://purl.obolibrary.org/obo/FOODON_00002277	stone fruit food product	http://purl.obolibrary.org/obo/FOODON_00001057	plant fruit food product		
http://purl.obolibrary.org/obo/FOODON_00003652	jujube fruit	http://purl.obolibrary.org/obo/FOODON_00001057	plant fruit food product		
http://purl.obolibrary.org/obo/FOODON_00001150	cucurbit fruit food product	http://purl.obolibrary.org/obo/FOODON_00001057	plant fruit food product		
http://purl.obolibrary.org/obo/FOODON_00001151	citrus fruit food product	http://purl.obolibrary.org/obo/FOODON_00001057	plant fruit food product		
http://purl.obolibrary.org/obo/FOODON_00001158	pomaceous fruit food product	http://purl.obolibrary.org/obo/FOODON_00001057	plant fruit food product		
http://purl.obolibrary.org/obo/FOODON_00001163	solanaceous fruit food product	http://purl.obolibrary.org/obo/FOODON_00001165	solanaceous food product		
http://purl.obolibrary.org/obo/FOODON_00001248	fish food product	http://purl.obolibrary.org/obo/FOODON_00001092	vertebrate food product		
http://purl.obolibrary.org/obo/FOODON_00001251	avian food product	http://purl.obolibrary.org/obo/FOODON_00001092	vertebrate food product		
http://purl.obolibrary.org/obo/FOODON_00001256	dairy food product	http://purl.obolibrary.org/obo/FOODON_00001092	vertebrate food product		
http://purl.obolibrary.org/obo/FOODON_00001274	egg food product	http://purl.obolibrary.org/obo/FOODON_00001092	vertebrate food product		
http://purl.obolibrary.org/obo/FOODON_00001275	chicken egg food product	http://purl.obolibrary.org/obo/FOODON_00001105	avian egg food product		
http://purl.obolibrary.org/obo/FOODON_00001109	caprine dairy food product	http://purl.obolibrary.org/obo/FOODON_00001107	bovine dairy food product		
http://purl.obolibrary.org/obo/FOODON_00001118	cattle dairy food product	http://purl.obolibrary.org/obo/FOODON_00001107	bovine dairy food product		
http://purl.obolibrary.org/obo/FOODON_00001771	cow milk based food product	http://purl.obolibrary.org/obo/FOODON_00001257	milk or milk based food product		
http://purl.obolibrary.org/obo/FOODON_00002029	melon food product	http://purl.obolibrary.org/obo/FOODON_00001150	cucurbit fruit food product		
http://purl.obolibrary.org/obo/FOODON_00002071	orange food product	http://purl.obolibrary.org/obo/FOODON_00001151	citrus fruit food product		
http://purl.obolibrary.org/obo/FOODON_00001611	apple food product	http://purl.obolibrary.org/obo/FOODON_00001158	pomaceous fruit food product		
http://purl.obolibrary.org/obo/FOODON_00002156	plant stem or spear food product	http://purl.obolibrary.org/obo/FOODON_00001261	vegetable food product		
http://purl.obolibrary.org/obo/FOODON_00003042	herb food product	http://purl.obolibrary.org/obo/FOODON_00001242	spice or herb		
http://purl.obolibrary.org/obo/FOODON_00001684	carp food product	http://purl.obolibrary.org/obo/FOODON_00001248	fish food product		
http://purl.obolibrary.org/obo/FOODON_00001750	cod food product	http://purl.obolibrary.org/obo/FOODON_00001248	fish food product		
http://purl.obolibrary.org/obo/FOODON_00002220	salmon food product	http://purl.obolibrary.org/obo/FOODON_00001248	fish food product		
http://purl.obolibrary.org/obo/FOODON_00001105	avian egg food product	http://purl.obolibrary.org/obo/FOODON_00001274	egg food product		
http://purl.obolibrary.org/obo/FOODON_00001107	bovine dairy food product	http://purl.obolibrary.org/obo/FOODON_00001256	dairy food product		
http://purl.obolibrary.org/obo/FOODON_00001257	milk or milk based food product	http://purl.obolibrary.org/obo/FOODON_00001256	dairy food product		
http://purl.obolibrary.org/obo/FOODON_00001057	plant fruit food product	http://purl.obolibrary.org/obo/FOODON_00001261	vegetable food product		
http://purl.obolibrary.org/obo/FOODON_00001264	legume food product	http://purl.obolibrary.org/obo/FOODON_00001262	botanical fruit food product		
http://purl.obolibrary.org/obo/FOODON_00001792	crustacean food product	http://purl.obolibrary.org/obo/FOODON_00001293	shellfish food product		
http://purl.obolibrary.org/obo/FOODON_00002044	mollusc food product	http://purl.obolibrary.org/obo/FOODON_00001293	shellfish food product		
http://purl.obolibrary.org/obo/NCBITaxon_1891714	Betapolyomavirus	http://purl.obolibrary.org/obo/NCBITaxon_151341	Polyomaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_2720872	Aspergillus subgen. Fumigati	http://purl.obolibrary.org/obo/NCBITaxon_5052	Aspergillus		
http://purl.obolibrary.org/obo/NCBITaxon_2790996	Mycoplasmoidales	http://purl.obolibrary.org/obo/NCBITaxon_544448	Mycoplasmatota		
http://purl.obolibrary.org/obo/NCBITaxon_2605435	Evosea	http://purl.obolibrary.org/obo/NCBITaxon_554915	Amoebozoa		
http://purl.obolibrary.org/obo/NCBITaxon_37104	Trichomonadida	http://purl.obolibrary.org/obo/NCBITaxon_5719	Parabasalia		
http://purl.obolibrary.org/obo/SO_0001744	UPD	http://purl.obolibrary.org/obo/SO_0001059	sequence_alteration		
http://purl.obolibrary.org/obo/SO_0001785	structural_alteration	http://purl.obolibrary.org/obo/SO_0001059	sequence_alteration		
http://purl.obolibrary.org/obo/SO_0001563	copy_number_change	http://purl.obolibrary.org/obo/SO_0002160	sequence_length_variant		
http://purl.obolibrary.org/obo/SO_0002161	short_tandem_repeat_change	http://purl.obolibrary.org/obo/SO_0002160	sequence_length_variant		
http://purl.obolibrary.org/obo/SO_0002162	short_tandem_repeat_expansion	http://purl.obolibrary.org/obo/SO_0002161	short_tandem_repeat_change		
http://purl.obolibrary.org/obo/SO_0002163	short_tandem_repeat_contraction	http://purl.obolibrary.org/obo/SO_0002161	short_tandem_repeat_change		
http://purl.obolibrary.org/obo/SO_0002165	trinucleotide_repeat_expansion	http://purl.obolibrary.org/obo/SO_0002162	short_tandem_repeat_expansion		
http://purl.obolibrary.org/obo/FOODON_00001015	plant food product	http://purl.obolibrary.org/obo/FOODON_00002403	food material		
http://purl.obolibrary.org/obo/FOODON_00004242	animal food product	http://purl.obolibrary.org/obo/FOODON_00002403	food material		
http://purl.obolibrary.org/obo/NCBITaxon_11266	Filoviridae	http://purl.obolibrary.org/obo/NCBITaxon_1955138	unclassified Mononegavirales		
http://purl.obolibrary.org/obo/NCBITaxon_61462	Gnathostomatoidea	http://purl.obolibrary.org/obo/NCBITaxon_2072717	Gnathostomatomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_2082224	Strongyloidoidea	http://purl.obolibrary.org/obo/NCBITaxon_2082223	Panagrolaimomorpha		
http://purl.obolibrary.org/obo/GENO_0000147	autosomal dominant inheritance	http://purl.obolibrary.org/obo/GENO_0000934	autosomal inheritance		
http://purl.obolibrary.org/obo/GENO_0000148	autosomal recessive inheritance	http://purl.obolibrary.org/obo/GENO_0000934	autosomal inheritance		
http://purl.obolibrary.org/obo/FOODON_00001811	dill food product	http://purl.obolibrary.org/obo/FOODON_00003042	herb food product		
http://purl.obolibrary.org/obo/FOODON_00002084	parsley food product	http://purl.obolibrary.org/obo/FOODON_00003042	herb food product		
http://purl.obolibrary.org/obo/GENO_0000970	chromosomal deletion inheritance	http://purl.obolibrary.org/obo/GENO_0000969	chromosomal inheritance		
http://purl.obolibrary.org/obo/GENO_0000971	chromosomal duplication inheritance	http://purl.obolibrary.org/obo/GENO_0000969	chromosomal inheritance		
http://purl.obolibrary.org/obo/GENO_0000972	chromosomal rearrangement inheritance	http://purl.obolibrary.org/obo/GENO_0000969	chromosomal inheritance		
http://purl.obolibrary.org/obo/NCBITaxon_1206795	Lophotrochozoa	http://purl.obolibrary.org/obo/NCBITaxon_2697495	Spiralia		
http://purl.obolibrary.org/obo/NCBITaxon_33630	Alveolata	http://purl.obolibrary.org/obo/NCBITaxon_2698737	Sar		
http://purl.obolibrary.org/obo/NCBITaxon_543769	Rhizaria	http://purl.obolibrary.org/obo/NCBITaxon_2698737	Sar		
http://purl.obolibrary.org/obo/NCBITaxon_746128	Aspergillus fumigatus	http://purl.obolibrary.org/obo/NCBITaxon_2720872	Aspergillus subgen. Fumigati		
http://purl.obolibrary.org/obo/NCBITaxon_452563	Cladosporiaceae	http://purl.obolibrary.org/obo/NCBITaxon_2726946	Cladosporiales		
http://purl.obolibrary.org/obo/NCBITaxon_668547	Teratosphaeriaceae	http://purl.obolibrary.org/obo/NCBITaxon_2726947	Mycosphaerellales		
http://purl.obolibrary.org/obo/SYMP_0000592	excessive crying of infant	http://purl.obolibrary.org/obo/SYMP_0000411	infant symptom		
http://purl.obolibrary.org/obo/NCBITaxon_333750	Alphapapillomavirus	http://purl.obolibrary.org/obo/NCBITaxon_2169595	Firstpapillomavirinae		
http://purl.obolibrary.org/obo/SO_0001538	transcript_function_variant	http://purl.obolibrary.org/obo/SO_0002218	functionally_abnormal		
http://purl.obolibrary.org/obo/SO_0001539	translational_product_function_variant	http://purl.obolibrary.org/obo/SO_0002218	functionally_abnormal		
http://purl.obolibrary.org/obo/SO_0001773	lethal_variant	http://purl.obolibrary.org/obo/SO_0002218	functionally_abnormal		
http://purl.obolibrary.org/obo/SO_0001786	loss_of_heterozygosity	http://purl.obolibrary.org/obo/SO_0002218	functionally_abnormal		
http://purl.obolibrary.org/obo/SO_0002052	dominant_negative_variant	http://purl.obolibrary.org/obo/SO_0002218	functionally_abnormal		
http://purl.obolibrary.org/obo/SO_0002053	gain_of_function_variant	http://purl.obolibrary.org/obo/SO_0002218	functionally_abnormal		
http://purl.obolibrary.org/obo/SO_0002054	loss_of_function_variant	http://purl.obolibrary.org/obo/SO_0002218	functionally_abnormal		
http://purl.obolibrary.org/obo/SO_0002055	null_mutation	http://purl.obolibrary.org/obo/SO_0002218	functionally_abnormal		
http://purl.obolibrary.org/obo/SO_0002319	NMD_triggering_variant	http://purl.obolibrary.org/obo/SO_0002218	functionally_abnormal		
http://purl.obolibrary.org/obo/SO_0002320	NMD_escaping_variant	http://purl.obolibrary.org/obo/SO_0002218	functionally_abnormal		
http://purl.obolibrary.org/obo/NCBITaxon_11286	Lyssavirus	http://purl.obolibrary.org/obo/NCBITaxon_2842407	Alpharhabdovirinae		
http://purl.obolibrary.org/obo/NCBITaxon_2790998	Mycoplasmoidaceae	http://purl.obolibrary.org/obo/NCBITaxon_2790996	Mycoplasmoidales		
http://purl.obolibrary.org/obo/NCBITaxon_3471199	Ribozyviria incertae sedis	http://purl.obolibrary.org/obo/NCBITaxon_2842242	Ribozyviria		
http://purl.obolibrary.org/obo/NCBITaxon_39759	Deltavirus	http://purl.obolibrary.org/obo/NCBITaxon_2842321	Kolmioviridae		
http://purl.obolibrary.org/obo/NCBITaxon_570	Klebsiella	http://purl.obolibrary.org/obo/NCBITaxon_2890311	Klebsiella/Raoultella group		
http://purl.obolibrary.org/obo/NCBITaxon_6274	Spirurina	http://purl.obolibrary.org/obo/NCBITaxon_6236	Rhabditida		
http://purl.obolibrary.org/obo/UBERON_0001560	neck of organ	http://purl.obolibrary.org/obo/UBERON_0034944	zone of organ		
http://purl.obolibrary.org/obo/UBERON_0005913	zone of bone organ	http://purl.obolibrary.org/obo/UBERON_0034944	zone of organ		
http://purl.obolibrary.org/obo/UBERON_0034979	nonchromaffin paraganglion	http://purl.obolibrary.org/obo/UBERON_0034978	paraganglion (generic)		
http://purl.obolibrary.org/obo/SYMP_0020002	anal abscess	http://purl.obolibrary.org/obo/SYMP_0000672	abscess		
http://purl.obolibrary.org/obo/SYMP_0000723	multiple abscesses	http://purl.obolibrary.org/obo/SYMP_0000672	abscess		
http://purl.obolibrary.org/obo/NCBITaxon_10632	JC polyomavirus	http://purl.obolibrary.org/obo/NCBITaxon_1891763	Betapolyomavirus secuhominis		
http://purl.obolibrary.org/obo/NCBITaxon_11572	Orthobunyavirus	http://purl.obolibrary.org/obo/NCBITaxon_1980416	Peribunyaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_11584	Phlebovirus	http://purl.obolibrary.org/obo/NCBITaxon_1980418	Phenuiviridae		
http://purl.obolibrary.org/obo/NCBITaxon_1891762	Betapolyomavirus hominis	http://purl.obolibrary.org/obo/NCBITaxon_1891714	Betapolyomavirus		
http://purl.obolibrary.org/obo/NCBITaxon_1891763	Betapolyomavirus secuhominis	http://purl.obolibrary.org/obo/NCBITaxon_1891714	Betapolyomavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052518	Orthonairovirus haemorrhagiae	http://purl.obolibrary.org/obo/NCBITaxon_1980517	Orthonairovirus		
http://purl.obolibrary.org/obo/HP_0001880	Increased total eosinophil count	http://purl.obolibrary.org/obo/HP_0020064	Abnormal total eosinophil count		
http://purl.obolibrary.org/obo/UBERON_0001982	capillary	http://purl.obolibrary.org/obo/UBERON_8410081	blood microvessel		
http://purl.obolibrary.org/obo/HP_4000072	Abnormal language feature	http://purl.obolibrary.org/obo/HP_0034434	Abnormal communication		
http://purl.obolibrary.org/obo/NCBITaxon_1783257	PVC group	http://purl.obolibrary.org/obo/NCBITaxon_3379134	Pseudomonadati		
http://purl.obolibrary.org/obo/NCBITaxon_1224	Pseudomonadota	http://purl.obolibrary.org/obo/NCBITaxon_3379134	Pseudomonadati		
http://purl.obolibrary.org/obo/NCBITaxon_203691	Spirochaetota	http://purl.obolibrary.org/obo/NCBITaxon_3379134	Pseudomonadati		
http://purl.obolibrary.org/obo/NCBITaxon_29547	Campylobacterota	http://purl.obolibrary.org/obo/NCBITaxon_3379134	Pseudomonadati		
http://purl.obolibrary.org/obo/NCBITaxon_573	Klebsiella pneumoniae	http://purl.obolibrary.org/obo/NCBITaxon_3390273	Klebsiella pneumoniae complex		
http://purl.obolibrary.org/obo/HP_0430071	Abnormal circulating organic compound concentration	http://purl.obolibrary.org/obo/HP_0032180	Abnormal circulating metabolite concentration		
http://purl.obolibrary.org/obo/HP_0100508	Abnormality of vitamin metabolism	http://purl.obolibrary.org/obo/HP_0032245	Abnormal metabolism		
http://purl.obolibrary.org/obo/NCBITaxon_11118	Coronaviridae	http://purl.obolibrary.org/obo/NCBITaxon_2499399	Cornidovirineae		
http://purl.obolibrary.org/obo/NCBITaxon_11040	Rubivirus	http://purl.obolibrary.org/obo/NCBITaxon_2560066	Matonaviridae		
http://purl.obolibrary.org/obo/MIM_177900	susceptibility to psoriasis 1	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_601484	susceptibility to psoriasis 3	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_603935	susceptibility to psoriasis 4	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_604316	susceptibility to psoriasis 5	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_605364	susceptibility to psoriasis 6	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_607857	susceptibility to psoriasis 9	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_608391	susceptibility to autoimmune disease 2	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_608392	susceptibility to autoimmune disease 3	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_609400	susceptibility to autoimmune disease 4	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_610707	susceptibility to psoriasis 8	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612410	susceptibility to psoriasis 10	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_614070	susceptibility to psoriasis 13	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_102300	susceptibility to restless legs syndrome 1	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_106300	susceptibility to spondyloarthropathy 1	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_125480	major affective disorder 1	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_126200	susceptibility to multiple sclerosis	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_127700	susceptibility to dyslexia 1	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_131200	susceptibility to endometriosis	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_133180	susceptibility to acute erythroid leukemia	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_137800	glioma susceptibility 1	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_140600	osteoarthritis susceptibility 2	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_142623	susceptibility to hirschsprung disease 1	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_145600	susceptibility to malignant hyperthermia 1	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_146500	susceptibility to multiple system atrophy 1	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_148000	susceptibility to kaposi sarcoma	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_155600	susceptibility to cutaneous malignant melanoma 1	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_155601	susceptibility to cutaneous malignant melanoma 2	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_165720	osteoarthritis susceptibility 1	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_166760	susceptibility to otitis media	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_181000	susceptibility to sarcoidosis 1	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_181800	susceptibility to isolated scoliosis 1	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_182940	susceptibility to neural tube defects	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_185100	susceptibility to strabismus	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_188890	susceptibility to tobacco addiction	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_212750	susceptibility to celiac disease 1	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_215400	susceptibility to chordoma	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_226400	susceptibility to epidermodysplasia verruciformis 1	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_235400	susceptibility to atypical hemolytic uremic syndrome 1	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_245300	susceptibility to kuru	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_246300	susceptibility to leprosy 3	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_256700	susceptibility to neuroblastoma	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_258660	susceptibility to nonarteritic anterior ischemic optic neuropathy	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_300125	susceptibility to migraine with or without aura 2	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_300351	susceptibility to Graves disease X-linked 1	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_300425	susceptibility to X-linked autism 1	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_300494	susceptibility to X-linked asperger syndrome 1	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_300495	susceptibility to X-linked autism 2	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_300496	susceptibility to X-linked autism 3	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_300497	susceptibility to X-linked asperger syndrome 2	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_300830	susceptibility to X-linked autism 4	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_300847	susceptibility to X-linked autism 5	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_300872	susceptibility to X-linked autism 6	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_300909	susceptibility to angioedema induced by ace inhibitors	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_309200	major affective disorder 2	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_600155	susceptibility to hirschsprung disease 2	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_600807	susceptibility to asthma	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_601744	susceptibility to systemic lupus erythematosus 1	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_601887	susceptibility to malignant hyperthermia 5	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_603388	susceptibility to Graves disease 2	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_604370	susceptibility to familial breast-ovarian cancer 1	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_605218	susceptibility to systemic lupus erythematosus 2	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_605462	susceptibility to basal cell carcinoma 1	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_605990	susceptibility to uric acid nephrolithiasis	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_606217	susceptibility to atrioventricular septal defect 2	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_606581	susceptibility to polysubstance abuse	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_606657	susceptibility to normal tension glaucoma	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_606788	susceptibility to anorexia nervosa	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_606798	susceptibility to benign essential blepharospasm	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_606856	susceptibility to pancreatic cancer 1	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_607174	susceptibility to familial meningioma	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_607248	glioma susceptibility 4	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_607354	susceptibility to isolated scoliosis 2	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_607373	susceptibility to autism 8	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_607499	susceptibility to bulimia nervosa	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_607507	psoriatic arthritis susceptibility	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_607516	susceptibility to migraine with or without aura 6	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_607688	susceptibility to autosomal dominant parkinson disease 11	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_607832	susceptibility to focal segmental glomerulosclerosis 3	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_607836	susceptibility to autoimmune disease 1	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_607850	osteoarthritis susceptibility 3	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_608049	susceptibility to autism 3	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_608446	susceptibility to myocardial infarction	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_608556	susceptibility to legionnaire disease	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_608709	susceptibility to partial acquired lipodystrophy	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_608765	susceptibility to isolated scoliosis 3	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_608812	susceptibility to colorectal cancer 1	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_608831	susceptibility to restless legs syndrome 2	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_608864	susceptibility to orofacial cleft 6	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_608901	susceptibility to coronary heart disease 5	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_609048	susceptibility to cutaneous malignant melanoma 3	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_609148	susceptibility to mild malaria	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_609378	susceptibility to autism 6	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_609423	susceptibility to human immunodeficiency virus type 1	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_609532	susceptibility to hepatitis C virus	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_609633	major affective disorder 3	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_609753	susceptibility to celiac disease 4	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_609755	susceptibility to celiac disease 3	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_610297	susceptibility to autosomal dominant parkinson disease 13	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_610438	susceptibility to restless legs syndrome 3	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_610439	susceptibility to restless legs syndrome 4	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_610676	susceptibility to autism 7	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_610836	susceptibility to autism 11	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_610839	osteoarthritis susceptibility 4	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_610908	susceptibility to autism 13	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_610927	susceptibility to systemic lupus erythematosus 9	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_610938	susceptibility to coronary heart disease 7	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_610988	susceptibility to leprosy 4	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_611015	susceptibility to autism 9	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_611016	susceptibility to autism 10	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_611162	susceptibility to malaria	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_611185	susceptibility to restless legs syndrome 6	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_611242	susceptibility to restless legs syndrome 5	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_611247	major affective disorder 4	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_611469	susceptibility to colorectal cancer 2	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_611535	major affective disorder 5	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_611536	major affective disorder 6	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_611942	susceptibility to childhood absence epilepsy 6	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612100	susceptibility to autism 15	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612229	susceptibility to colorectal cancer 3	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612230	susceptibility to colorectal cancer 5	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612231	susceptibility to colorectal cancer 6	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612232	susceptibility to colorectal cancer 7	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612238	susceptibility to isolated scoliosis 4	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612239	susceptibility to isolated scoliosis 5	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612251	susceptibility to systemic lupus erythematosus 10	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612253	susceptibility to systemic lupus erythematosus 11	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612269	susceptibility to childhood absence epilepsy 5	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612357	major affective disorder 8	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612371	major affective disorder 7	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612372	major affective disorder 9	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612387	susceptibility to sarcoidosis 2	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612388	susceptibility to sarcoidosis 3	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612400	osteoarthritis susceptibility 5	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612401	osteoarthritis susceptibility 6	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612551	susceptibility to focal segmental glomerulosclerosis 4	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612555	susceptibility to familial breast-ovarian cancer 2	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612589	susceptibility to colorectal cancer 8	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612590	susceptibility to colorectal cancer 9	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612591	susceptibility to colorectal cancer 10	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612592	susceptibility to colorectal cancer 11	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612853	susceptibility to restless legs syndrome 7	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612922	susceptibility to atypical hemolytic uremic syndrome 2	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612923	susceptibility to atypical hemolytic uremic syndrome 3	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612924	susceptibility to atypical hemolytic uremic syndrome 4	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612925	susceptibility to atypical hemolytic uremic syndrome 5	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612926	susceptibility to atypical hemolytic uremic syndrome 6	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613003	susceptibility to attention deficit-hyperactivity disorder 7	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613013	susceptibility to neuroblastoma 2	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613014	susceptibility to neuroblastoma 3	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613015	susceptibility to neuroblastoma 4	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613016	susceptibility to neuroblastoma 5	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613024	susceptibility to follicular lymphoma 1	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613028	glioma susceptibility 2	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613029	glioma susceptibility 3	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613030	glioma susceptibility 5	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613031	glioma susceptibility 6	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613032	glioma susceptibility 7	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613033	glioma susceptibility 8	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613058	susceptibility to basal cell carcinoma 2	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613059	susceptibility to basal cell carcinoma 3	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613061	susceptibility to basal cell carcinoma 4	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613062	susceptibility to basal cell carcinoma 5	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613063	susceptibility to basal cell carcinoma 6	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613067	susceptibility to acute lymphoblastic leukemia 2	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613099	susceptibility to cutaneous malignant melanoma 5	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613223	susceptibility to leprosy 5	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613347	susceptibility to pancreatic cancer 2	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613348	susceptibility to pancreatic cancer 3	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613399	susceptibility to familial breast-ovarian cancer 3	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613410	susceptibility to autism 16	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613436	susceptibility to autism 17	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613551	susceptibility to autoimmune disease 6	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613643	susceptibility to autosomal dominant parkinson disease 5	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613656	susceptibility to migraine with or without aura 13	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613711	susceptibility to hirschsprung disease 3	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613712	susceptibility to hirschsprung disease 4	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613972	susceptibility to cutaneous malignant melanoma 6	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_614079	susceptibility to aspergillosis	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_614090	susceptibility to sick sinus syndrome 3	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_614251	susceptibility to autosomal dominant parkinson disease 18	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_614291	susceptibility to familial breast-ovarian cancer 4	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_614320	susceptibility to pancreatic cancer 4	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_614371	susceptibility to dengue virus	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_614456	susceptibility to cutaneous malignant melanoma 8	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_614466	susceptibility to coronary heart disease 6	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_614680	susceptibility to severe influenza	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_614740	susceptibility to basal cell carcinoma 7	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_614810	susceptibility to multiple sclerosis 5	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_615083	susceptibility to colorectal cancer 12	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_615091	susceptibility to autism 19	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_615134	susceptibility to cutaneous malignant melanoma 9	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_615197	susceptibility to restless legs syndrome 8	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_615371	susceptibility to neonatal pulmonary hypertension	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_615529	susceptibility to craniosynostosis 5	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_615545	susceptibility to acute lymphoblastic leukemia 3	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_615557	susceptibility to melioidosis	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_615848	obsolete susceptibility to cutaneous malignant melanoma 10	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_616106	pustular psoriasis susceptibility 15	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_616818	susceptibility to IgA nephropathy 3	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_616871	susceptibility to familial (multiple types) myeloproliferative/lymphoproliferative neoplasms	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_617075	susceptibility to nasopharyngeal carcinoma 3	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_617349	susceptibility to familial thoracic aortic aneurysm  11	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_617892	susceptibility to amyotrophic lateral sclerosis 24	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_617921	susceptibility to amyotrophic lateral sclerosis 25	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_618231	susceptibility to epidermodysplasia verruciformis 2	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_618267	susceptibility to epidermodysplasia verruciformis 3	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_618307	obsolete susceptibility to epidermodysplasia verruciformis 4	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_618309	obsolete susceptibility to epidermodysplasia verruciformis 5	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_300464	susceptibility to coronary heart disease 3	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_300509	susceptibility to dyslexia 9	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_600131	susceptibility to childhood absence epilepsy 1	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_600156	susceptibility to hirschsprung disease 5	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_600202	susceptibility to dyslexia 2	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_602477	susceptibility to idiopathic generalized epilepsy 17	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_603918	susceptibility to essential hypertension 1	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_604254	susceptibility to dyslexia 3	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_604329	susceptibility to essential hypertension 2	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_604827	susceptibility to idiopathic generalized epilepsy 7	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_606616	susceptibility to dyslexia 6	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_606874	susceptibility to hirschsprung disease 6	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_606875	susceptibility to hirschsprung disease 7	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_606896	susceptibility to dyslexia 5	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_606972	susceptibility to idiopathic generalized epilepsy 2	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_607329	susceptibility to essential hypertension 3	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_607339	susceptibility to coronary heart disease 1	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_607628	susceptibility to idiopathic generalized epilepsy 11	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_607682	susceptibility to idiopathic generalized epilepsy 9	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_608035	susceptibility to cutaneous malignant melanoma 4	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_608316	susceptibility to coronary heart disease 2	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_608318	susceptibility to coronary heart disease 4	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_608462	susceptibility to hirschsprung disease 8	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_608742	susceptibility to essential hypertension 4	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_608762	susceptibility to idiopathic generalized epilepsy 3	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_608995	susceptibility to dyslexia 8	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_609750	susceptibility to idiopathic generalized epilepsy 4	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_610261	susceptibility to essential hypertension 5	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_610262	susceptibility to essential hypertension 6	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_610948	susceptibility to essential hypertension 7	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_611014	susceptibility to essential hypertension 8	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_611136	susceptibility to idiopathic generalized epilepsy 13	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_611139	susceptibility to coronary heart disease 8	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_611644	susceptibility to hirschsprung disease 9	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_611934	susceptibility to idiopathic generalized epilepsy 5	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612030	susceptibility to coronary heart disease 9	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612263	susceptibility to cutaneous malignant melanoma 7	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_612899	susceptibility to idiopathic generalized epilepsy 8	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_613060	susceptibility to idiopathic generalized epilepsy 10	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_614847	susceptibility to idiopathic generalized epilepsy 12	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_616685	susceptibility to idiopathic generalized epilepsy 14	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_618357	susceptibility to idiopathic generalized epilepsy 15	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_618596	susceptibility to idiopathic generalized epilepsy 16	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_619521	susceptibility to idiopathic generalized epilepsy 18	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_620442	susceptibility to familial breast-ovarian cancer 5	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/MIM_621064	susceptibility to idiopathic generalized epilepsy 19	http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility		
http://purl.obolibrary.org/obo/NCBITaxon_10255	Variola virus	http://purl.obolibrary.org/obo/NCBITaxon_3431487	Orthopoxvirus variola		
http://purl.obolibrary.org/obo/NCBITaxon_108098	Human mastadenovirus B	http://purl.obolibrary.org/obo/NCBITaxon_3241406	Mastadenovirus blackbeardi		
http://purl.obolibrary.org/obo/HP_0003125	Reduced factor VIII activity	http://purl.obolibrary.org/obo/HP_0030976	Abnormal factor VIII activity		
http://purl.obolibrary.org/obo/NCBITaxon_33682	Euglenozoa	http://purl.obolibrary.org/obo/NCBITaxon_2611352	Discoba		
http://purl.obolibrary.org/obo/NCBITaxon_10404	Hepadnaviridae	http://purl.obolibrary.org/obo/NCBITaxon_2732515	Blubervirales		
http://purl.obolibrary.org/obo/NCBITaxon_2169561	Ortervirales	http://purl.obolibrary.org/obo/NCBITaxon_2732514	Revtraviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_2732515	Blubervirales	http://purl.obolibrary.org/obo/NCBITaxon_2732514	Revtraviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_2743711	Danioninae	http://purl.obolibrary.org/obo/NCBITaxon_2743709	Danionidae		
http://purl.obolibrary.org/obo/UBERON_0000463	organism substance	http://purl.obolibrary.org/obo/UBERON_0000001	gross anatomical part		
http://purl.obolibrary.org/obo/UBERON_0005423	developing anatomical structure	http://purl.obolibrary.org/obo/UBERON_0000001	gross anatomical part		
http://purl.obolibrary.org/obo/UBERON_0036215	anatomical surface region	http://purl.obolibrary.org/obo/UBERON_0000001	gross anatomical part		
http://purl.obolibrary.org/obo/SO_0002315	increased_gene_product_level	http://purl.obolibrary.org/obo/SO_0002314	altered_gene_product_level		
http://purl.obolibrary.org/obo/SO_0002316	decreased_gene_product_level	http://purl.obolibrary.org/obo/SO_0002314	altered_gene_product_level		
http://purl.obolibrary.org/obo/SO_0002395	lost_polypeptide	http://purl.obolibrary.org/obo/SO_0002317	absent_gene_product		
http://purl.obolibrary.org/obo/NCBITaxon_10240	Poxviridae	http://purl.obolibrary.org/obo/NCBITaxon_2732527	Chitovirales		
http://purl.obolibrary.org/obo/NCBITaxon_10780	Parvoviridae	http://purl.obolibrary.org/obo/NCBITaxon_2732534	Piccovirales		
http://purl.obolibrary.org/obo/NCBITaxon_37727	Talaromyces marneffei	http://purl.obolibrary.org/obo/NCBITaxon_2752537	Talaromyces sect. Talaromyces		
http://purl.obolibrary.org/obo/NCBITaxon_2497569	Negarnaviricota	http://purl.obolibrary.org/obo/NCBITaxon_2732396	Orthornavirae		
http://purl.obolibrary.org/obo/NCBITaxon_2732405	Duplornaviricota	http://purl.obolibrary.org/obo/NCBITaxon_2732396	Orthornavirae		
http://purl.obolibrary.org/obo/NCBITaxon_2732406	Kitrinoviricota	http://purl.obolibrary.org/obo/NCBITaxon_2732396	Orthornavirae		
http://purl.obolibrary.org/obo/NCBITaxon_2732408	Pisuviricota	http://purl.obolibrary.org/obo/NCBITaxon_2732396	Orthornavirae		
http://purl.obolibrary.org/obo/NCBITaxon_11018	Togaviridae	http://purl.obolibrary.org/obo/NCBITaxon_2732544	Martellivirales		
http://purl.obolibrary.org/obo/NCBITaxon_11050	Flaviviridae	http://purl.obolibrary.org/obo/NCBITaxon_2732545	Amarillovirales		
http://purl.obolibrary.org/obo/NCBITaxon_7961	Cyprinus	http://purl.obolibrary.org/obo/NCBITaxon_2743694	Cyprininae		
http://purl.obolibrary.org/obo/NCBITaxon_3079366	Hepeviridae	http://purl.obolibrary.org/obo/NCBITaxon_2732543	Hepelivirales		
http://purl.obolibrary.org/obo/NCBITaxon_2560066	Matonaviridae	http://purl.obolibrary.org/obo/NCBITaxon_2732543	Hepelivirales		
http://purl.obolibrary.org/obo/NCBITaxon_12908	unclassified sequences	http://purl.obolibrary.org/obo/NCBITaxon_2787823	unclassified entries		
http://purl.obolibrary.org/obo/NCBITaxon_151341	Polyomaviridae	http://purl.obolibrary.org/obo/NCBITaxon_2732532	Sepolyvirales		
http://purl.obolibrary.org/obo/NCBITaxon_2788857	unclassified Zurhausenvirales	http://purl.obolibrary.org/obo/NCBITaxon_2732533	Zurhausenvirales		
http://purl.obolibrary.org/obo/NCBITaxon_7954	Danio	http://purl.obolibrary.org/obo/NCBITaxon_2743711	Danioninae		
http://purl.obolibrary.org/obo/NCBITaxon_2731360	Heunggongvirae	http://purl.obolibrary.org/obo/NCBITaxon_2731341	Duplodnaviria		
http://purl.obolibrary.org/obo/NCBITaxon_2732092	Shotokuvirae	http://purl.obolibrary.org/obo/NCBITaxon_2731342	Monodnaviria		
http://purl.obolibrary.org/obo/NCBITaxon_2731361	Peploviricota	http://purl.obolibrary.org/obo/NCBITaxon_2731360	Heunggongvirae		
http://purl.obolibrary.org/obo/NCBITaxon_2731363	Herviviricetes	http://purl.obolibrary.org/obo/NCBITaxon_2731361	Peploviricota		
http://purl.obolibrary.org/obo/NCBITaxon_548681	Herpesvirales	http://purl.obolibrary.org/obo/NCBITaxon_2731363	Herviviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_2732005	Bamfordvirae	http://purl.obolibrary.org/obo/NCBITaxon_2732004	Varidnaviria		
http://purl.obolibrary.org/obo/NCBITaxon_2732007	Nucleocytoviricota	http://purl.obolibrary.org/obo/NCBITaxon_2732005	Bamfordvirae		
http://purl.obolibrary.org/obo/NCBITaxon_2732008	Preplasmiviricota	http://purl.obolibrary.org/obo/NCBITaxon_2732005	Bamfordvirae		
http://purl.obolibrary.org/obo/NCBITaxon_2732525	Pokkesviricetes	http://purl.obolibrary.org/obo/NCBITaxon_2732007	Nucleocytoviricota		
http://purl.obolibrary.org/obo/NCBITaxon_3412694	Polisuviricotina	http://purl.obolibrary.org/obo/NCBITaxon_2732008	Preplasmiviricota		
http://purl.obolibrary.org/obo/NCBITaxon_2732415	Cossaviricota	http://purl.obolibrary.org/obo/NCBITaxon_2732092	Shotokuvirae		
http://purl.obolibrary.org/obo/NCBITaxon_2732409	Artverviricota	http://purl.obolibrary.org/obo/NCBITaxon_2732397	Pararnavirae		
http://purl.obolibrary.org/obo/NCBITaxon_2732459	Resentoviricetes	http://purl.obolibrary.org/obo/NCBITaxon_2732405	Duplornaviricota		
http://purl.obolibrary.org/obo/NCBITaxon_2732461	Alsuviricetes	http://purl.obolibrary.org/obo/NCBITaxon_2732406	Kitrinoviricota		
http://purl.obolibrary.org/obo/NCBITaxon_2732462	Flasuviricetes	http://purl.obolibrary.org/obo/NCBITaxon_2732406	Kitrinoviricota		
http://purl.obolibrary.org/obo/NCBITaxon_2732506	Pisoniviricetes	http://purl.obolibrary.org/obo/NCBITaxon_2732408	Pisuviricota		
http://purl.obolibrary.org/obo/NCBITaxon_2732514	Revtraviricetes	http://purl.obolibrary.org/obo/NCBITaxon_2732409	Artverviricota		
http://purl.obolibrary.org/obo/NCBITaxon_2732421	Papovaviricetes	http://purl.obolibrary.org/obo/NCBITaxon_2732415	Cossaviricota		
http://purl.obolibrary.org/obo/NCBITaxon_2732422	Quintoviricetes	http://purl.obolibrary.org/obo/NCBITaxon_2732415	Cossaviricota		
http://purl.obolibrary.org/obo/NCBITaxon_2732532	Sepolyvirales	http://purl.obolibrary.org/obo/NCBITaxon_2732421	Papovaviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_2732533	Zurhausenvirales	http://purl.obolibrary.org/obo/NCBITaxon_2732421	Papovaviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_2732534	Piccovirales	http://purl.obolibrary.org/obo/NCBITaxon_2732422	Quintoviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_2788829	unclassified Resentoviricetes	http://purl.obolibrary.org/obo/NCBITaxon_2732459	Resentoviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_2732544	Martellivirales	http://purl.obolibrary.org/obo/NCBITaxon_2732461	Alsuviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_2732543	Hepelivirales	http://purl.obolibrary.org/obo/NCBITaxon_2732461	Alsuviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_2732545	Amarillovirales	http://purl.obolibrary.org/obo/NCBITaxon_2732462	Flasuviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_464095	Picornavirales	http://purl.obolibrary.org/obo/NCBITaxon_2732506	Pisoniviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_76804	Nidovirales	http://purl.obolibrary.org/obo/NCBITaxon_2732506	Pisoniviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_2732527	Chitovirales	http://purl.obolibrary.org/obo/NCBITaxon_2732525	Pokkesviricetes		
http://purl.obolibrary.org/obo/HP_0034058	Abnormal fetal morphology	http://purl.obolibrary.org/obo/HP_0034057	Fetal anomaly		
http://purl.obolibrary.org/obo/HP_0003355	Aminoaciduria	http://purl.obolibrary.org/obo/HP_0025745	Abnormal urine amino acid level		
http://purl.obolibrary.org/obo/NCBITaxon_3052489	Orthohantavirus negraense	http://purl.obolibrary.org/obo/NCBITaxon_3431295	Orthohantavirus mamorense		
http://purl.obolibrary.org/obo/SYMP_0000375	severe abdominal cramp	http://purl.obolibrary.org/obo/SYMP_0000001	abdominal cramp		
http://purl.obolibrary.org/obo/SYMP_0020026	chronic inflammation	http://purl.obolibrary.org/obo/SYMP_0000061	inflammation		
http://purl.obolibrary.org/obo/SYMP_0000437	earache	http://purl.obolibrary.org/obo/SYMP_0000099	pain		
http://purl.obolibrary.org/obo/SYMP_0000202	acute painful vision loss	http://purl.obolibrary.org/obo/SYMP_0000099	pain		
http://purl.obolibrary.org/obo/SYMP_0000230	body ache	http://purl.obolibrary.org/obo/SYMP_0000099	pain		
http://purl.obolibrary.org/obo/SYMP_0020023	bone pain	http://purl.obolibrary.org/obo/SYMP_0000099	pain		
http://purl.obolibrary.org/obo/SYMP_0000291	gas pain	http://purl.obolibrary.org/obo/SYMP_0000099	pain		
http://purl.obolibrary.org/obo/SYMP_0000404	dyspareunia	http://purl.obolibrary.org/obo/SYMP_0000099	pain		
http://purl.obolibrary.org/obo/SYMP_0000576	chest pain	http://purl.obolibrary.org/obo/SYMP_0000099	pain		
http://purl.obolibrary.org/obo/SYMP_0000362	progressive prostration	http://purl.obolibrary.org/obo/SYMP_0000116	prostration		
http://purl.obolibrary.org/obo/SYMP_0000129	severe conjunctivitis	http://purl.obolibrary.org/obo/SYMP_0000128	conjunctivitis		
http://purl.obolibrary.org/obo/SYMP_0000757	mild conjunctivitis	http://purl.obolibrary.org/obo/SYMP_0000128	conjunctivitis		
http://purl.obolibrary.org/obo/SYMP_0000707	flaccid muscle tone	http://purl.obolibrary.org/obo/SYMP_0000183	muscle symptom		
http://purl.obolibrary.org/obo/SYMP_0000094	muscle weakness	http://purl.obolibrary.org/obo/SYMP_0000183	muscle symptom		
http://purl.obolibrary.org/obo/SYMP_0000234	cloudy cornea	http://purl.obolibrary.org/obo/SYMP_0000239	cornea symptom		
http://purl.obolibrary.org/obo/SYMP_0000240	corneal opacity	http://purl.obolibrary.org/obo/SYMP_0000239	cornea symptom		
http://purl.obolibrary.org/obo/SYMP_0000241	corneal ulcers	http://purl.obolibrary.org/obo/SYMP_0000239	cornea symptom		
http://purl.obolibrary.org/obo/SYMP_0000314	keratitis	http://purl.obolibrary.org/obo/SYMP_0000239	cornea symptom		
http://purl.obolibrary.org/obo/SYMP_0000282	fixed dilated pupils	http://purl.obolibrary.org/obo/SYMP_0000254	dilated pupil		
http://purl.obolibrary.org/obo/SYMP_0000396	mydriasis	http://purl.obolibrary.org/obo/SYMP_0000254	dilated pupil		
http://purl.obolibrary.org/obo/SYMP_0000339	occasional diplopia	http://purl.obolibrary.org/obo/SYMP_0000258	double vision		
http://purl.obolibrary.org/obo/SYMP_0020005	acquired color vision deficiency	http://purl.obolibrary.org/obo/SYMP_0000320	vision symptom		
http://purl.obolibrary.org/obo/SYMP_0020009	blind spot	http://purl.obolibrary.org/obo/SYMP_0000320	vision symptom		
http://purl.obolibrary.org/obo/SYMP_0000008	blindness	http://purl.obolibrary.org/obo/SYMP_0000320	vision symptom		
http://purl.obolibrary.org/obo/SYMP_0000258	double vision	http://purl.obolibrary.org/obo/SYMP_0000320	vision symptom		
http://purl.obolibrary.org/obo/SYMP_0000321	loss of vision	http://purl.obolibrary.org/obo/SYMP_0000320	vision symptom		
http://purl.obolibrary.org/obo/SYMP_0000628	vision distortion	http://purl.obolibrary.org/obo/SYMP_0000320	vision symptom		
http://purl.obolibrary.org/obo/SYMP_0000416	amaurosis	http://purl.obolibrary.org/obo/SYMP_0000321	loss of vision		
http://purl.obolibrary.org/obo/SYMP_0000325	mild bronchitis	http://purl.obolibrary.org/obo/SYMP_0000324	bronchitis		
http://purl.obolibrary.org/obo/SYMP_0000109	mouth papules	http://purl.obolibrary.org/obo/SYMP_0000386	mouth symptom		
http://purl.obolibrary.org/obo/SYMP_0000260	dry mouth	http://purl.obolibrary.org/obo/SYMP_0000386	mouth symptom		
http://purl.obolibrary.org/obo/SYMP_0000330	mouth sore	http://purl.obolibrary.org/obo/SYMP_0000386	mouth symptom		
http://purl.obolibrary.org/obo/SYMP_0000342	slurred speech	http://purl.obolibrary.org/obo/SYMP_0000386	mouth symptom		
http://purl.obolibrary.org/obo/SYMP_0000559	voice disturbance	http://purl.obolibrary.org/obo/SYMP_0000386	mouth symptom		
http://purl.obolibrary.org/obo/SYMP_0000650	thick white exudate on tongue	http://purl.obolibrary.org/obo/SYMP_0000386	mouth symptom		
http://purl.obolibrary.org/obo/SYMP_0000655	mouth bleeding	http://purl.obolibrary.org/obo/SYMP_0000386	mouth symptom		
http://purl.obolibrary.org/obo/SYMP_0000727	palate weakness	http://purl.obolibrary.org/obo/SYMP_0000386	mouth symptom		
http://purl.obolibrary.org/obo/SYMP_0000752	herpetic lesion on upper lip	http://purl.obolibrary.org/obo/SYMP_0000386	mouth symptom		
http://purl.obolibrary.org/obo/SYMP_0000865	lesions in mouth	http://purl.obolibrary.org/obo/SYMP_0000386	mouth symptom		
http://purl.obolibrary.org/obo/SYMP_0000877	decreased tongue tone	http://purl.obolibrary.org/obo/SYMP_0000386	mouth symptom		
http://purl.obolibrary.org/obo/SYMP_0000507	head swelling	http://purl.obolibrary.org/obo/SYMP_0000387	head symptom		
http://purl.obolibrary.org/obo/SYMP_0000386	mouth symptom	http://purl.obolibrary.org/obo/SYMP_0000387	head symptom		
http://purl.obolibrary.org/obo/SYMP_0000388	nose symptom	http://purl.obolibrary.org/obo/SYMP_0000387	head symptom		
http://purl.obolibrary.org/obo/SYMP_0000392	ear symptom	http://purl.obolibrary.org/obo/SYMP_0000387	head symptom		
http://purl.obolibrary.org/obo/SYMP_0019163	eye symptom	http://purl.obolibrary.org/obo/SYMP_0000387	head symptom		
http://purl.obolibrary.org/obo/SYMP_0000134	sinusitis	http://purl.obolibrary.org/obo/SYMP_0000388	nose symptom		
http://purl.obolibrary.org/obo/SYMP_0000664	yellow exudate from nose	http://purl.obolibrary.org/obo/SYMP_0000388	nose symptom		
http://purl.obolibrary.org/obo/SYMP_0000701	nasal discharge	http://purl.obolibrary.org/obo/SYMP_0000388	nose symptom		
http://purl.obolibrary.org/obo/SYMP_0000741	nasal bleeding	http://purl.obolibrary.org/obo/SYMP_0000388	nose symptom		
http://purl.obolibrary.org/obo/SYMP_0000019	deafness	http://purl.obolibrary.org/obo/SYMP_0000392	ear symptom		
http://purl.obolibrary.org/obo/SYMP_0000393	tinnitus	http://purl.obolibrary.org/obo/SYMP_0000392	ear symptom		
http://purl.obolibrary.org/obo/SYMP_0000703	droopy ears	http://purl.obolibrary.org/obo/SYMP_0000392	ear symptom		
http://purl.obolibrary.org/obo/SYMP_0000397	unreactive mydriasis	http://purl.obolibrary.org/obo/SYMP_0000396	mydriasis		
http://purl.obolibrary.org/obo/SYMP_0000753	intense anxiety	http://purl.obolibrary.org/obo/SYMP_0000412	anxiety		
http://purl.obolibrary.org/obo/SYMP_0000415	amaurosis fugax	http://purl.obolibrary.org/obo/SYMP_0000416	amaurosis		
http://purl.obolibrary.org/obo/SYMP_0000254	dilated pupil	http://purl.obolibrary.org/obo/SYMP_0000417	pupil symptom		
http://purl.obolibrary.org/obo/SYMP_0000418	contracted pupil	http://purl.obolibrary.org/obo/SYMP_0000417	pupil symptom		
http://purl.obolibrary.org/obo/SYMP_0000419	miosis	http://purl.obolibrary.org/obo/SYMP_0000418	contracted pupil		
http://purl.obolibrary.org/obo/SYMP_0000611	periumbilic abdominal pain	http://purl.obolibrary.org/obo/SYMP_0000457	abdominal pain		
http://purl.obolibrary.org/obo/SYMP_0000648	tenesmus	http://purl.obolibrary.org/obo/SYMP_0000459	digestive system symptom		
http://purl.obolibrary.org/obo/SYMP_0000311	intestinal hypermotility	http://purl.obolibrary.org/obo/SYMP_0000459	digestive system symptom		
http://purl.obolibrary.org/obo/SYMP_0000725	necrosis of jejunum	http://purl.obolibrary.org/obo/SYMP_0000459	digestive system symptom		
http://purl.obolibrary.org/obo/SYMP_0000702	distended loops of intestines on rectal	http://purl.obolibrary.org/obo/SYMP_0000459	digestive system symptom		
http://purl.obolibrary.org/obo/SYMP_0000255	diminished gastro-intestinal motility	http://purl.obolibrary.org/obo/SYMP_0000459	digestive system symptom		
http://purl.obolibrary.org/obo/SYMP_0000639	rectorrhagia	http://purl.obolibrary.org/obo/SYMP_0000459	digestive system symptom		
http://purl.obolibrary.org/obo/SYMP_0000509	flatulence	http://purl.obolibrary.org/obo/SYMP_0000459	digestive system symptom		
http://purl.obolibrary.org/obo/SYMP_0000001	abdominal cramp	http://purl.obolibrary.org/obo/SYMP_0000461	abdominal symptom		
http://purl.obolibrary.org/obo/SYMP_0020012	weight symptom	http://purl.obolibrary.org/obo/SYMP_0000473	nutrition, metabolism, and development symptom		
http://purl.obolibrary.org/obo/SYMP_0000553	neurologic neglect syndrome	http://purl.obolibrary.org/obo/SYMP_0000480	nervous system symptom		
http://purl.obolibrary.org/obo/SYMP_0000124	seizure	http://purl.obolibrary.org/obo/SYMP_0000480	nervous system symptom		
http://purl.obolibrary.org/obo/SYMP_0000743	blotchy red rash	http://purl.obolibrary.org/obo/SYMP_0000487	rash		
http://purl.obolibrary.org/obo/SYMP_0000693	decreased facial sensation	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		
http://purl.obolibrary.org/obo/SYMP_0000556	localized superficial lump	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		
http://purl.obolibrary.org/obo/SYMP_0020020	abnormal scar formation	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		
http://purl.obolibrary.org/obo/SYMP_0000017	crinkle	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		
http://purl.obolibrary.org/obo/SYMP_0000536	disturbance of skin sensation	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		
http://purl.obolibrary.org/obo/SYMP_0000818	localized superficial mass	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		
http://purl.obolibrary.org/obo/SYMP_0000184	change in skin color	http://purl.obolibrary.org/obo/SYMP_0000488	skin and integumentary tissue symptom		
http://purl.obolibrary.org/obo/SYMP_0000130	severe headache	http://purl.obolibrary.org/obo/SYMP_0000504	headache		
http://purl.obolibrary.org/obo/SYMP_0000630	frontal headache	http://purl.obolibrary.org/obo/SYMP_0000504	headache		
http://purl.obolibrary.org/obo/SYMP_0000684	bifrontal headache	http://purl.obolibrary.org/obo/SYMP_0000504	headache		
http://purl.obolibrary.org/obo/SYMP_0000082	lesions in lung	http://purl.obolibrary.org/obo/SYMP_0000514	respiratory system and chest symptom		
http://purl.obolibrary.org/obo/SYMP_0000292	heart failure	http://purl.obolibrary.org/obo/SYMP_0000528	cardiovascular system symptom		
http://purl.obolibrary.org/obo/SYMP_0000357	postphlebitic ulcer	http://purl.obolibrary.org/obo/SYMP_0000528	cardiovascular system symptom		
http://purl.obolibrary.org/obo/SYMP_0000298	hoarse voice	http://purl.obolibrary.org/obo/SYMP_0000559	voice disturbance		
http://purl.obolibrary.org/obo/SYMP_0000574	aphonia	http://purl.obolibrary.org/obo/SYMP_0000559	voice disturbance		
http://purl.obolibrary.org/obo/SYMP_0000704	dysphonia	http://purl.obolibrary.org/obo/SYMP_0000559	voice disturbance		
http://purl.obolibrary.org/obo/SYMP_0020063	blood pressure	http://purl.obolibrary.org/obo/SYMP_0000567	general symptom		
http://purl.obolibrary.org/obo/SYMP_0000015	giddiness	http://purl.obolibrary.org/obo/SYMP_0000567	general symptom		
http://purl.obolibrary.org/obo/SYMP_0000566	sleep disturbance	http://purl.obolibrary.org/obo/SYMP_0000567	general symptom		
http://purl.obolibrary.org/obo/SYMP_0000411	infant symptom	http://purl.obolibrary.org/obo/SYMP_0000567	general symptom		
http://purl.obolibrary.org/obo/SYMP_0000672	abscess	http://purl.obolibrary.org/obo/SYMP_0000567	general symptom		
http://purl.obolibrary.org/obo/SYMP_0000177	weakness	http://purl.obolibrary.org/obo/SYMP_0000567	general symptom		
http://purl.obolibrary.org/obo/SYMP_0000651	discharge	http://purl.obolibrary.org/obo/SYMP_0000567	general symptom		
http://purl.obolibrary.org/obo/SYMP_0000689	cramp	http://purl.obolibrary.org/obo/SYMP_0000567	general symptom		
http://purl.obolibrary.org/obo/SYMP_0020011	bloody diarrhea	http://purl.obolibrary.org/obo/SYMP_0000570	diarrhea		
http://purl.obolibrary.org/obo/SYMP_0000228	hemorrhagic diarrhea	http://purl.obolibrary.org/obo/SYMP_0000570	diarrhea		
http://purl.obolibrary.org/obo/SYMP_0000376	severe diarrhea	http://purl.obolibrary.org/obo/SYMP_0000570	diarrhea		
http://purl.obolibrary.org/obo/SYMP_0000754	severe chest pain	http://purl.obolibrary.org/obo/SYMP_0000576	chest pain		
http://purl.obolibrary.org/obo/SYMP_0000387	head symptom	http://purl.obolibrary.org/obo/SYMP_0000597	head and neck symptom		
http://purl.obolibrary.org/obo/SYMP_0000671	sudden onset of fever	http://purl.obolibrary.org/obo/SYMP_0000613	fever		
http://purl.obolibrary.org/obo/SYMP_0000627	disturbed vision	http://purl.obolibrary.org/obo/SYMP_0000628	vision distortion		
http://purl.obolibrary.org/obo/SYMP_0000189	postural reaction	http://purl.obolibrary.org/obo/SYMP_0000891	musculoskeletal system symptom		
http://purl.obolibrary.org/obo/SYMP_0000618	abnormal posture	http://purl.obolibrary.org/obo/SYMP_0000891	musculoskeletal system symptom		
http://purl.obolibrary.org/obo/SYMP_0000694	decreased jaw tone	http://purl.obolibrary.org/obo/SYMP_0000891	musculoskeletal system symptom		
http://purl.obolibrary.org/obo/SYMP_0000713	inability to lie flat	http://purl.obolibrary.org/obo/SYMP_0000891	musculoskeletal system symptom		
http://purl.obolibrary.org/obo/SYMP_0000617	torticollis	http://purl.obolibrary.org/obo/SYMP_0000891	musculoskeletal system symptom		
http://purl.obolibrary.org/obo/SYMP_0000183	muscle symptom	http://purl.obolibrary.org/obo/SYMP_0000891	musculoskeletal system symptom		
http://purl.obolibrary.org/obo/SYMP_0000744	cervical lymphadenopathy	http://purl.obolibrary.org/obo/SYMP_0019142	lymphadenopathy		
http://purl.obolibrary.org/obo/SYMP_0020007	anterior scleral inflammation	http://purl.obolibrary.org/obo/SYMP_0019163	eye symptom		
http://purl.obolibrary.org/obo/SYMP_0000211	asthenopia	http://purl.obolibrary.org/obo/SYMP_0019163	eye symptom		
http://purl.obolibrary.org/obo/SYMP_0000212	eye strain	http://purl.obolibrary.org/obo/SYMP_0019163	eye symptom		
http://purl.obolibrary.org/obo/SYMP_0000239	cornea symptom	http://purl.obolibrary.org/obo/SYMP_0019163	eye symptom		
http://purl.obolibrary.org/obo/SYMP_0000253	anisocoria	http://purl.obolibrary.org/obo/SYMP_0019163	eye symptom		
http://purl.obolibrary.org/obo/SYMP_0000281	eye discharge	http://purl.obolibrary.org/obo/SYMP_0019163	eye symptom		
http://purl.obolibrary.org/obo/SYMP_0000284	fixed pupil	http://purl.obolibrary.org/obo/SYMP_0019163	eye symptom		
http://purl.obolibrary.org/obo/SYMP_0000301	hypopyon	http://purl.obolibrary.org/obo/SYMP_0019163	eye symptom		
http://purl.obolibrary.org/obo/SYMP_0000310	inflamed eyes	http://purl.obolibrary.org/obo/SYMP_0019163	eye symptom		
http://purl.obolibrary.org/obo/SYMP_0000320	vision symptom	http://purl.obolibrary.org/obo/SYMP_0019163	eye symptom		
http://purl.obolibrary.org/obo/SYMP_0000338	nystagmus	http://purl.obolibrary.org/obo/SYMP_0019163	eye symptom		
http://purl.obolibrary.org/obo/SYMP_0000417	pupil symptom	http://purl.obolibrary.org/obo/SYMP_0019163	eye symptom		
http://purl.obolibrary.org/obo/SYMP_0000446	bloodshot eye	http://purl.obolibrary.org/obo/SYMP_0019163	eye symptom		
http://purl.obolibrary.org/obo/SYMP_0000665	yellow exudate from eyes	http://purl.obolibrary.org/obo/SYMP_0019163	eye symptom		
http://purl.obolibrary.org/obo/SYMP_0000690	cranial nerve palsies	http://purl.obolibrary.org/obo/SYMP_0019163	eye symptom		
http://purl.obolibrary.org/obo/SYMP_0000714	intraretinal hemorrhage	http://purl.obolibrary.org/obo/SYMP_0019163	eye symptom		
http://purl.obolibrary.org/obo/SYMP_0000722	moderate conjuctival injection	http://purl.obolibrary.org/obo/SYMP_0019163	eye symptom		
http://purl.obolibrary.org/obo/SYMP_0000767	subconjunctival bleeding	http://purl.obolibrary.org/obo/SYMP_0019163	eye symptom		
http://purl.obolibrary.org/obo/SYMP_0019164	excessive tearing	http://purl.obolibrary.org/obo/SYMP_0019163	eye symptom		
http://purl.obolibrary.org/obo/SYMP_0019165	light sensitivity	http://purl.obolibrary.org/obo/SYMP_0019163	eye symptom		
http://purl.obolibrary.org/obo/SYMP_0019172	ocular lesion	http://purl.obolibrary.org/obo/SYMP_0019163	eye symptom		
http://purl.obolibrary.org/obo/SYMP_0000210	photophobia	http://purl.obolibrary.org/obo/SYMP_0019165	light sensitivity		
http://purl.obolibrary.org/obo/NCBITaxon_694002	Betacoronavirus	http://purl.obolibrary.org/obo/NCBITaxon_2501931	Orthocoronavirinae		
http://purl.obolibrary.org/obo/NCBITaxon_1980442	Orthohantavirus	http://purl.obolibrary.org/obo/NCBITaxon_2560074	Mammantavirinae		
http://purl.obolibrary.org/obo/NCBITaxon_2560194	Orthoavulavirus	http://purl.obolibrary.org/obo/NCBITaxon_2560069	Avulavirinae		
http://purl.obolibrary.org/obo/NCBITaxon_2560195	Orthorubulavirus	http://purl.obolibrary.org/obo/NCBITaxon_2560080	Rubulavirinae		
http://purl.obolibrary.org/obo/NCBITaxon_3051375	Orthoavulavirus javaense	http://purl.obolibrary.org/obo/NCBITaxon_2560194	Orthoavulavirus		
http://purl.obolibrary.org/obo/NCBITaxon_234	Brucella	http://purl.obolibrary.org/obo/NCBITaxon_2826938	Brucella/Ochrobactrum group		
http://purl.obolibrary.org/obo/FOODON_00001046	animal seafood product	http://purl.obolibrary.org/obo/FOODON_00004242	animal food product		
http://purl.obolibrary.org/obo/FOODON_00001092	vertebrate food product	http://purl.obolibrary.org/obo/FOODON_00004242	animal food product		
http://purl.obolibrary.org/obo/SYMP_0020058	severe bronchiole inflammation	http://purl.obolibrary.org/obo/SYMP_0020057	bronchiole inflammation		
http://purl.obolibrary.org/obo/SYMP_0020059	suppurative bronchiole inflammation	http://purl.obolibrary.org/obo/SYMP_0020057	bronchiole inflammation		
http://purl.obolibrary.org/obo/NCBITaxon_3046277	Orthoflavivirus flavi	http://purl.obolibrary.org/obo/NCBITaxon_3044782	Orthoflavivirus		
http://purl.obolibrary.org/obo/NCBITaxon_3048158	Orthoflavivirus japonicum	http://purl.obolibrary.org/obo/NCBITaxon_3044782	Orthoflavivirus		
http://purl.obolibrary.org/obo/NCBITaxon_3048184	Orthoflavivirus loupingi	http://purl.obolibrary.org/obo/NCBITaxon_3044782	Orthoflavivirus		
http://purl.obolibrary.org/obo/NCBITaxon_3048215	Orthoflavivirus murrayense	http://purl.obolibrary.org/obo/NCBITaxon_3044782	Orthoflavivirus		
http://purl.obolibrary.org/obo/NCBITaxon_3048287	Orthoflavivirus powassanense	http://purl.obolibrary.org/obo/NCBITaxon_3044782	Orthoflavivirus		
http://purl.obolibrary.org/obo/NCBITaxon_3048448	Orthoflavivirus nilense	http://purl.obolibrary.org/obo/NCBITaxon_3044782	Orthoflavivirus		
http://purl.obolibrary.org/obo/NCBITaxon_3048233	Orthoflavivirus omskense	http://purl.obolibrary.org/obo/NCBITaxon_3044782	Orthoflavivirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052465	Orthoflavivirus encephalitidis	http://purl.obolibrary.org/obo/NCBITaxon_3044782	Orthoflavivirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052468	Orthoflavivirus louisense	http://purl.obolibrary.org/obo/NCBITaxon_3044782	Orthoflavivirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052464	Orthoflavivirus denguei	http://purl.obolibrary.org/obo/NCBITaxon_3044782	Orthoflavivirus		
http://purl.obolibrary.org/obo/NCBITaxon_3048170	Orthoflavivirus kyasanurense	http://purl.obolibrary.org/obo/NCBITaxon_3044782	Orthoflavivirus		
http://purl.obolibrary.org/obo/NCBITaxon_3048459	Orthoflavivirus zikaense	http://purl.obolibrary.org/obo/NCBITaxon_3044782	Orthoflavivirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052505	Orthomarburgvirus marburgense	http://purl.obolibrary.org/obo/NCBITaxon_3044783	Orthomarburgvirus		
http://purl.obolibrary.org/obo/NCBITaxon_33743	Kyasanur Forest disease virus	http://purl.obolibrary.org/obo/NCBITaxon_3048170	Orthoflavivirus kyasanurense		
http://purl.obolibrary.org/obo/NCBITaxon_32604	Human betaherpesvirus 6B	http://purl.obolibrary.org/obo/NCBITaxon_3050297	Roseolovirus humanbeta6b		
http://purl.obolibrary.org/obo/SO_0002386	5_prime_UTR_uORF_stop_codon_variant	http://purl.obolibrary.org/obo/SO_0002385	5_prime_UTR_uORF_variant		
http://purl.obolibrary.org/obo/SO_0002387	5_prime_UTR_uORF_frameshift_variant	http://purl.obolibrary.org/obo/SO_0002385	5_prime_UTR_uORF_variant		
http://purl.obolibrary.org/obo/SO_0002388	5_prime_UTR_uORF_stop_codon_gain_variant	http://purl.obolibrary.org/obo/SO_0002386	5_prime_UTR_uORF_stop_codon_variant		
http://purl.obolibrary.org/obo/SO_0002389	5_prime_UTR_uORF_stop_codon_loss_variant	http://purl.obolibrary.org/obo/SO_0002386	5_prime_UTR_uORF_stop_codon_variant		
http://purl.obolibrary.org/obo/DOID_10472	obsolete candidal pneumonia				A candidiasis that involves inflammation of the lung caused by Candida species either by hematogenous dissemination or by bronchial extension in patients with oropharyngeal candidiasis. The symptoms include fever, tachypnea, dyspnea, and chest pain.
http://purl.obolibrary.org/obo/DOID_10508	obsolete Bacillus anthracis pneumonia				A primary Bacillaceae infectious disease involving Bacillus anthracis infection resulting in pulmonary infiltrates and necrosis.
http://purl.obolibrary.org/obo/DOID_10510	obsolete influenza virus pneumonia				A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Influenza A virus, has_material_basis_in Influenza B virus, or has_material_basis_in Influenza C virus, which can directly damage the respiratory epithelium, allowing free access to invading bacteria. The mucous membranes are covered with foamy, bloody fluid from the pulmonary edema in the more acute cases. Interstitial fibrosis has been observed. The infection has_symptom cough, has_symptom pain in the chest and throughout body, has_symptom headache, has_symptom weakness, and has_symptom chills.
http://purl.obolibrary.org/obo/DOID_10527	obsolete Haemophilus influenzae pneumonia				A Haemophilus influenzae infectious disease that is caused by the strains of Haemophilus influenzae resulting in pleural effusions. This disease occurs in individuals with disorders that impaired the normal defense mechanisms and with pre-existing lung disease. H. influenzae causes bronchopneumonia making the patients wheezy and progressively more breathless.
http://purl.obolibrary.org/obo/DOID_10531	obsolete pneumococcal pneumonia				A pneumococcal infectious disease that involves infection by the bacterium Streptococcus pneumoniae, also known as pneumococcus. In adults, pneumococcal pneumonia is often characterized by sudden onset of illness with symptoms including shaking chills, fever, shortness of breath or rapid breathing, pain in the chest that is worsened by breathing deeply, and a productive cough. In infants and young children, signs and symptoms may not be specific, and may include fever, cough, rapid breathing or grunting.
http://purl.obolibrary.org/obo/DOID_10532	obsolete streptococcal pneumonia				A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias.
http://purl.obolibrary.org/obo/DOID_10535	obsolete coxsackie myocarditis				A coxsackie carditis that results_in inflammation located_in myocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom lethargy, has_symptom heart failure, has_symptom pallor, has_symptom cyanosis, has_symptom dyspnea, has_symptom tachycardia, and has_symptom enlargement of heart.
http://purl.obolibrary.org/obo/DOID_10545	obsolete coxsackievirus infectious disease				An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue.
http://purl.obolibrary.org/obo/DOID_10551	obsolete cerebral toxoplasmosis				A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures.
http://purl.obolibrary.org/obo/DOID_10564	obsolete gangosa of yaws				A late yaws that involves destruction of the bone and cartilage of the nose. This is caused by the spirochete bacterium, Treponema pallidum pertenue.
http://purl.obolibrary.org/obo/DOID_10731	obsolete nodular lung tuberculosis				A pulmonary tuberculosis presenting as multiple bilateral large nodules in the lungs.
http://purl.obolibrary.org/obo/DOID_1077	obsolete Spirurida infectious disease				A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Spirurida.
http://purl.obolibrary.org/obo/DOID_1078	obsolete Chromadorea infectious disease				A Nematoda infectious disease that involves infection by parasitic worms of the class Chromadorea, characterized by body annules, elaborated and spiral amphids, and three esophageal glands.
http://purl.obolibrary.org/obo/DOID_10902	obsolete pulmonary actinomycosis				An actinomycosis that results_in infection, has_material_basis_in Actinomyces israelii or has_material_basis_in Actinomyces gerencseriae. It results in lung cavities, lung nodules, and pleural effusion. The infection has_symptom chest pain, has_symptom cough with sputum, has_symptom fever, has_symptom lethargy, has_symptom night sweats, has_symptom shortness of breath, has_symptom weight loss, and has_symptom draining of sinuses.
http://purl.obolibrary.org/obo/DOID_10910	obsolete echovirus meningitis				A coxsackie meningitis that results_in inflammation located_in meningeal cluster, has_material_basis_in Human echovirus 30, or has_material_basis_in Human echovirus 9, which is transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, has_symptom photophobia and has_symptom neck stiffness.
http://purl.obolibrary.org/obo/DOID_10911	obsolete echovirus infectious disease				An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites.
http://purl.obolibrary.org/obo/DOID_10919	obsolete transsexualism				A gender identity disorder that is characterized by an individual's identification with a gender inconsistent or not culturally associated with their biological sex.
http://purl.obolibrary.org/obo/DOID_10957	obsolete Enterobacter aerogenes intestinal infectious disease				An intestinal infectious disease that involves infection of the intestine by nosocomial bacterium Enterobacter aerogenes, which results in formation of ulcers.
http://purl.obolibrary.org/obo/DOID_10958	obsolete Salmonella arizonae intestinal infectious disease				A Salmonella infectious disease that involves infection of the intestine caused by Salmonella enterica subsp arizonae, which is a gut inhabitant of reptiles. The symptoms include fever, headache, abdominal pain, vomiting, and diarrhea.
http://purl.obolibrary.org/obo/DOID_10959	obsolete Escherichia coli intestinal infectious disease				A primary bacterial infectious disease that involves infection of the intestine by the bacterium Escherichia coli, caused by consumption of contaminated food and water. Some strains of Escherichia coli produce Shiga toxin, which cause severe illness. The symptoms include severe stomach cramps, fever, diarrhea (sometimes bloody), and vomiting.
http://purl.obolibrary.org/obo/DOID_10978	obsolete poliovirus type III nonparalytic poliomyelitis				A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 3, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms.
http://purl.obolibrary.org/obo/DOID_10979	obsolete poliovirus type I nonparalytic poliomyelitis				A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms.
http://purl.obolibrary.org/obo/DOID_10980	obsolete poliovirus type II nonparalytic poliomyelitis				A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 2, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms.
http://purl.obolibrary.org/obo/DOID_11092	obsolete Salmonella gastroenteritis				A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness.
http://purl.obolibrary.org/obo/DOID_11093	obsolete bacterial gastroenteritis				A gastroenteritis that involves inflammation of the stomach and intestines caused by bacteria. The symptoms include abdominal cramps and pain, diarrhea, loss of appetite, nausea, and vomiting.
http://purl.obolibrary.org/obo/DOID_11097	obsolete pulmonary syphilis				A tertiary syphilis that is caused by the spirochetal bacterium Treponema pallidum subspecies pallidum. It is a sexually transmitted disease although congenital syphilis can also occur. Treponema infection of the lung leads to a fibrous induration spreading from the roots of the lungs. Ulcerations occur in the superficial tissues, while in the deep tissues gummata are formed. Symptoms include dry cough, hemoptysis, hemorrhage, dyspnea, pain in the chest, loss of weight and slight fever.
http://purl.obolibrary.org/obo/DOID_11167	obsolete uterine cervix condylomata acuminata				An anogenital venereal wart that results_in infection located_in cervix, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom cervical warts.
http://purl.obolibrary.org/obo/DOID_11169	obsolete vaginal condylomata acuminata				An anogenital venereal wart that results_in infection located_in mucosa of vagina, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vaginal warts.
http://purl.obolibrary.org/obo/DOID_11170	obsolete vulvar condylomata acuminata				An anogenital venereal wart that results_in infection located_in skin of vulva, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vulvar warts.
http://purl.obolibrary.org/obo/DOID_11171	obsolete urethral condylomata acuminata				An anogenital venereal wart that results_in infection located_in skin of urethra, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom urethral warts.
http://purl.obolibrary.org/obo/DOID_11172	obsolete anal condylomata acuminata				An anogenital venereal wart that results_in infection located_in skin of anus, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during anal sex with an infected partner. The infection has_symptom anal warts.
http://purl.obolibrary.org/obo/DOID_11179	obsolete otitis media with effusion				A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media.
http://purl.obolibrary.org/obo/DOID_11182	obsolete chronic otitis media with effusion				A non-suppurative otitis media and eustachian tube disorder which is persistent and long-lasting.
http://purl.obolibrary.org/obo/DOID_11259	obsolete Cytomegalovirus infectious disease				A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions.
http://purl.obolibrary.org/obo/DOID_11261	obsolete foot and mouth disease				A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness.
http://purl.obolibrary.org/obo/DOID_11314	obsolete Histoplasma duboisii retinitis				An African histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of lesions.
http://purl.obolibrary.org/obo/DOID_11340	obsolete Pneumocystis infectious disease				An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions.
http://purl.obolibrary.org/obo/DOID_11341	obsolete fungal lung infectious disease				A lung disease that is a mycosis caused by fungal growth in the lungs.
http://purl.obolibrary.org/obo/DOID_11404	obsolete diphtheritic laryngotracheitis				A diphtheria that involves a bluish white membrane formation on the larynx. It can be an extension of the nasopharyngeal diphtheria. This membrane can lead to airway obstruction, coma, and death. Symptoms include fever, hoarseness, and a barking cough.
http://purl.obolibrary.org/obo/DOID_11418	obsolete Trichomonas urethritis				A Trichomonas vaginalis trichomoniasis that involves inflammation of the urethra caused by Trichomonas vaginalis, which results in pain during urination.
http://purl.obolibrary.org/obo/DOID_11523	obsolete Clostridium perfringens gastroenteritis				A commensal Clostridium infectious disease that is caused by ingestion of food contaminated with Clostridium perfringens, which produces an enterotoxin that acts on the small intestine. The symptoms include watery diarrhea, abdominal cramps, a severe decrease in blood pressure and abdominal expansion from gas.
http://purl.obolibrary.org/obo/DOID_11607	obsolete candidal meningitis				A candidiasis that involves fungal infection of the meninges caused by Candida species, predominantly in low birth weight neonates with septicemia, resulting in formation of abscesses.
http://purl.obolibrary.org/obo/DOID_11680	obsolete ocular onchocerciasis				A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness.
http://purl.obolibrary.org/obo/DOID_11699	obsolete intrathoracic lymph node tuberculosis				A lymph node tuberculosis that is characterized by a peri-hilar or paratracheal lymph adenopathy after the primary infection. The diseased lymph nodes and associated inflammatory edema compress the airways resulting in partial or total airway obstruction. When a caseating lymph node erupts into an airway, aspiration of caseous material results in dense alveolar consolidation of the affected segment/lobe.
http://purl.obolibrary.org/obo/DOID_11741	obsolete Chlamydophila pneumoniae pneumonia				A Chlamydophila infectious disease that involves Chlamydophila pneumoniae infection, characterized by interstitial infiltrates and respiratory distress.
http://purl.obolibrary.org/obo/DOID_11892	obsolete Amoebozoa infectious disease				A parasitic protozoa infectious disease that involves infection caused by amoeboid protozoa.
http://purl.obolibrary.org/obo/DOID_11893	obsolete cutaneous amebiasis				An amebiasis that involves infection of the skin caused by the parasite Entamoeba histolytica, resulting in lesions on the body.
http://purl.obolibrary.org/obo/DOID_11896	obsolete Acanthamoeba keratitis				A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye.
http://purl.obolibrary.org/obo/DOID_11897	obsolete Blastocystis hominis infectious disease				A parasitic stramenopiles infectious disease that involves infection of the intestine with a pathogenic heterokont Blastocystis hominis. The symptoms include watery diarrhea, abdominal pain, perianal pruritus, and excessive flatulence.
http://purl.obolibrary.org/obo/DOID_11902	obsolete cerebral amebiasis				An amebiasis that involves infection of the brain caused by the parasite Entamoeba histolytica resulting in brain abscesses.
http://purl.obolibrary.org/obo/DOID_11943	obsolete Trichomonas vaginitis				A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area.
http://purl.obolibrary.org/obo/DOID_11944	obsolete Trichomonas prostatitis				A Trichomonas vaginalis trichomoniasis that involves inflammation of the prostate gland caused by Trichomonas vaginalis.
http://purl.obolibrary.org/obo/DOID_11945	obsolete Trichomonas cystitis				A Trichomonas vaginalis trichomoniasis that involves inflammation of the urinary bladder caused by Trichomonas vaginalis. The symptoms include pain during urination, foul urine odor and abnormal urine color.
http://purl.obolibrary.org/obo/DOID_11964	obsolete Histoplasma capsulatum retinitis				An American histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of lesions.
http://purl.obolibrary.org/obo/DOID_12017	obsolete group B streptococcal pneumonia				A commensal streptococcal infectious disease that is caused by group B streptococci (Streptococcus agalactiae) usually infecting neonates and the elderly.
http://purl.obolibrary.org/obo/DOID_12019	obsolete group A streptococcal pneumonia				A commensal streptococcal infectious disease that is caused due to the infection by group A streptococci, of which Streptococcus pyogenes is the most important pathogen. The infection results in the development of empyema, pneumothorax, and cyst.
http://purl.obolibrary.org/obo/DOID_12052	obsolete cryptococcal meningitis				A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion.
http://purl.obolibrary.org/obo/DOID_12054	obsolete Trypanosoma meningitis				A trypanosomiasis that involves inflammation of the meninges caused due to Trypanosoma species.
http://purl.obolibrary.org/obo/DOID_12115	obsolete streptococcal pharyngitis				A commensal streptococcal infectious disease that involves infection of the pharynx and sometimes the larynx and tonsils. It is caused by Group A Streptococcus bacteria. The common symptoms include fever, sore throat, headache, stomach ache, nausea, or chills.
http://purl.obolibrary.org/obo/DOID_12133	obsolete Yersinia enterocolitica intestinal infectious disease				A Yersinia infectious disease that involves infection of the intestine caused by Yersinia enterocolitica. The symptoms include fever, abdominal pain, and diarrhea (often bloody in children).
http://purl.obolibrary.org/obo/DOID_12141	obsolete adenovirus meningitis				An adenovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7 and has_symptom fever, has_symptom headache, has_symptom stiff neck, and has_symptom confusion.
http://purl.obolibrary.org/obo/DOID_122	obsolete abdominal cancer				A cancer by anatomical entitiy that affects the organs in the abdominal cavity.
http://purl.obolibrary.org/obo/DOID_1221	obsolete infiltrative lung tuberculosis				A pulmonary tuberculosis that is characterized by filling of airspaces with fluid, inflammatory exudates (pus, proteins and immunological substances) or cells (malignant cells and red blood cells) in a region of the lung.
http://purl.obolibrary.org/obo/DOID_12210	obsolete Wuchereria bancrofti filariasis				A filarial elephantiasis that involves parasitic infection of the lymphatic system by a filarial worm Wuchereria bancrofti, which is transmitted by mosquitoes. The symptoms include lymphedema, fever, chills, skin infections, painful lymph nodes, orchitis and epididymitis.
http://purl.obolibrary.org/obo/DOID_12245	obsolete histoplasmosis endocarditis				A histoplasmosis endocarditis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii or has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions.
http://purl.obolibrary.org/obo/DOID_12252	obsolete Cushing's syndrome				An adrenal gland hyperfunction that is caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland.
http://purl.obolibrary.org/obo/DOID_12302	obsolete diphtheritic membranous angina				A diphtheria that involves a bluish white membrane formation on the faucial pillars, uvula, soft palate and tonsils.
http://purl.obolibrary.org/obo/DOID_12404	obsolete tinea				A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair, and located_in nail, has_material_basis_in Epidermophyton, has_material_basis_in Microsporum, or has_material_basis_in Trichophyton, which invade the dead keratin and has_symptom itchy patches, and has_symptom red rash on the skin.
http://purl.obolibrary.org/obo/DOID_1253	obsolete Enoplea infectious disease				A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands.
http://purl.obolibrary.org/obo/DOID_12569	obsolete Chagas cardiomyopathy				A Chagas disease that involves deterioration of the function of the myocardium caused due to Trypanosoma cruzi infection, which leads to heart rhythm abnormalities and may result in sudden death.
http://purl.obolibrary.org/obo/DOID_12608	obsolete staphylococcal pneumonia				A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst.
http://purl.obolibrary.org/obo/DOID_12633	obsolete cervicofacial actinomycosis				An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene.
http://purl.obolibrary.org/obo/DOID_12634	obsolete cerebral actinomycosis				An actinomycosis that involves invasion and infiltration located_in brain, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of brain abscess.
http://purl.obolibrary.org/obo/DOID_1265	obsolete genitourinary cancer				An organ system cancer located_in the genitourinary system that is characterized by uncontrolled cellular proliferation in reproductive and urinary organs.
http://purl.obolibrary.org/obo/DOID_12710	obsolete Histoplasma duboisii pneumonia				An African histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain.
http://purl.obolibrary.org/obo/DOID_12739	obsolete bronchial tuberculosis				A pulmonary tuberculosis which involves inflammation of bronchi resulting in irregular circumferential bronchial wall thickening that leads to narrowed or even obstructed airways.
http://purl.obolibrary.org/obo/DOID_1275	obsolete Pneumovirus infectious disease				A Paramyxoviridae infectious disease that results_in infection in cattle and humans, has_material_basis_in Pneumovirus, which is transmitted_by contact with the respiratory secretions.
http://purl.obolibrary.org/obo/DOID_12763	obsolete classic Kaposi's sarcoma				A Kaposi's sarcoma that located_in older men of Italian or Eastern European Jewish origin. Kaposi's sarcoma results_in slow-growing lesions on the legs and feet.
http://purl.obolibrary.org/obo/DOID_12765	obsolete peritonsillar abscess				A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as 'hot potato voice' may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common.
http://purl.obolibrary.org/obo/DOID_12773	obsolete endemic African Kaposi's sarcoma				A Kaposi's sarcoma that is located_in black Africans.
http://purl.obolibrary.org/obo/DOID_12779	obsolete recurrent Kaposi's sarcoma				A Kaposi's sarcoma that derives_from the tissue that lines the lymph vessels under the skin or in mucous membranes.
http://purl.obolibrary.org/obo/DOID_12819	obsolete Clostridium difficile intestinal infectious disease				A commensal bacterial infectious disease that involves infection of the intestine by the bacterium Clostridium difficile, which causes diarrhea, pseudomembranous colitis, toxic megacolon, intestinal perforation and sepsis. The symptoms include fever, loss of appetite, nausea and abdominal pain.
http://purl.obolibrary.org/obo/DOID_12840	obsolete Ancylostoma ceylanicum ancylostomiasis				An ancylostomiasis that involves parasitic infection of animals and humans by Ancylostoma ceylanicum larvae, which invade percutaneously and migrate to the intestine.
http://purl.obolibrary.org/obo/DOID_12888	obsolete Chlamydophila psittaci pneumonia				An ornithosis involving Chlamydophila psittaci infection, contracted by inhaling dust from the feathers or the waste of infected birds. The symptoms include fever, chills, fatigue, and loss of appetite. A cough develops, which is initially dry but later brings up greenish sputum.
http://purl.obolibrary.org/obo/DOID_1301	obsolete RNA virus infectious disease				A viral infectious disease that results_in infection, has_material_basis_in RNA viruses, which have RNA as their genetic material.
http://purl.obolibrary.org/obo/DOID_13019	obsolete cryptococcal gastroenteritis				A cryptococcosis that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Filobasidiella neoformans and has_symptom gastointestinal bleeding, has_symptom diarrhea and has_symptom abdominal pain.
http://purl.obolibrary.org/obo/DOID_13020	obsolete pulmonary cryptococcosis				A cryptococcosis that results_in inflammation located_in lungs, has_material_basis_in Cryptococcus neoformans which results_in_formation_of nodular lesions and results_in_formation_of lobar consolidation in the lungs of the immunocompetent patient and has_symptom cough, has_symptom chest pain and has_symptom difficulty breathing.
http://purl.obolibrary.org/obo/DOID_13021	obsolete AIDS-related cryptococcosis				A cryptococcosis that is_a disease associated with AIDS has_material_basis_in Cryptococcus neoformans which results_in a systemic infection in individuals with HIV.
http://purl.obolibrary.org/obo/DOID_13032	obsolete Trichomonas balanoposthitis				A Trichomonas vaginalis trichomoniasis that involves inflammation of the foreskin and glans in uncircumcised males caused by Trichomonas vaginalis resulting in redness of foreskin or penis, rash on the head of penis, foul-smelling discharge, and painful penis and foreskin.
http://purl.obolibrary.org/obo/DOID_13047	obsolete Ancylostoma braziliense ancylostomiasis				An ancylostomiasis that is characterized by skin manifestations (cutaneous larva migrans) occuring due to migrating larvae of Ancylostoma braziliense in the upper epidermis. It is marked by the presence of erythematous, serpiginous and pruritic cutaneous eruptions.
http://purl.obolibrary.org/obo/DOID_13049	obsolete Ancylostoma duodenale ancylostomiasis				An ancylostomiasis that involves parasitic infection of the small intestine in humans, cats and dogs by the nematode Ancylostoma duodenale. The symptoms include abdominal pain, loss of appetite, geophagy and anemia.
http://purl.obolibrary.org/obo/DOID_1305	obsolete AIDS dementia complex				A HIV encephalopathy that results_in infection in adults located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems.
http://purl.obolibrary.org/obo/DOID_1306	obsolete HIV encephalopathy				An acquired immunodeficiency syndrome that results_in infection located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, and has_symptom behavioral change.
http://purl.obolibrary.org/obo/DOID_13076	obsolete abdominal actinomycosis				An actinomycosis that involves invasion and infiltration located_in large intestine, located_in greater omentum, or located_in abdominal wall, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus or has_material_basis_in Actinomyces meyeri, which produce a characteristic granulomatous inflammatory response, with pus production and has_symptom abscess formation.
http://purl.obolibrary.org/obo/DOID_13077	obsolete cutaneous actinomycosis				An actinomycosis that results_in infection located_in skin, has_material_basis_in Actinomyces israelii, which invades the soft tissue resulting in the formation of abnormal channels leading to the skin surface (external sinus tracts) that discharge pale yellow sulfur granules.
http://purl.obolibrary.org/obo/DOID_1308	obsolete AIDS related complex				A Human immunodeficiency virus infectious disease that results_in infection with mild symptoms, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom swollen lymph glands, has_symptom fever, has_symptom diarrhea, and has_symptom weight loss.
http://purl.obolibrary.org/obo/DOID_1311	obsolete HIV-associated nephropathy				A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (greater than 3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia.
http://purl.obolibrary.org/obo/DOID_1313	obsolete HIV wasting syndrome				An acquired immunodeficiency syndrome that results_in involuntary loss of more than 10% of body weight, plus more than 30 days of either diarrhea, or weakness and fever, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2.
http://purl.obolibrary.org/obo/DOID_13149	obsolete tuberculous lung fibrosis				A pulmonary tuberculosis in which tissue deep in the lungs becomes thick and stiff (scarred).
http://purl.obolibrary.org/obo/DOID_13164	obsolete Bordetella pertussis pneumonia				A commensal Alcaligenaceae infectious disease that is caused by the bacterium Bordetella pertussis resulting in difficulty breathing.
http://purl.obolibrary.org/obo/DOID_13165	obsolete Aspergillus pneumonia				An aspergillosis that involves infection of the lung with Aspergillus, which causes pneumonia in people with an impaired immune system. The symptoms include wheezing, coughing and fever.
http://purl.obolibrary.org/obo/DOID_13251	obsolete HIV enteropathy				A Human immunodeficiency virus infectious disease that results_in infection characterized by chronic diarrhea lasting longer than 1 month, without an identified infectious cause after thorough evaluation, in an HIV-positive individual, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. It is observed that HIV-infected individuals have histologic abnormalities of the gastrointestinal mucosa, malabsorption, and lymphocyte depletion causing diarrhea, increased gastrointestinal inflammation, increased intestinal permeability, and malabsorption of bile acid and vitamin B12.
http://purl.obolibrary.org/obo/DOID_13257	obsolete Histoplasma duboisii endocarditis				An African histoplasmosis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions.
http://purl.obolibrary.org/obo/DOID_13273	obsolete Escherichia coli pneumonia				A commensal Escherichia coli infectious disease that is caused by Escherichia coli. The disease results from proliferation of aspirated organisms in terminal airways, usually at multiple sites in the lung. Multifocal area of consolidation result and terminal airways and alveoli are filled with proteinaceous fluid, fibrin, neutrophils, and macrophages.
http://purl.obolibrary.org/obo/DOID_13274	obsolete enzootic pneumonia of calves				A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms.
http://purl.obolibrary.org/obo/DOID_13275	obsolete rickettsial pneumonia				A rickettsiosis that is caused by the genus Rickettsia. This infection results in pleural effusions and pulmonary edema.
http://purl.obolibrary.org/obo/DOID_13277	obsolete Mycoplasma hyopneumoniae pneumonia				A mycoplasmal pneumonia that is a contagious infection of pigs caused my Mycoplasma hyopneumoniae resulting in lung lesions and chronic cough.
http://purl.obolibrary.org/obo/DOID_13278	obsolete Salmonella pneumonia				A Salmonella infectious disease that is caused by Gram-negative bacteria of genus Salmonella which is rare in adults, although more common in children in the tropics. This infection is complicated by suppuration with lung abscess or empyema formation.
http://purl.obolibrary.org/obo/DOID_13285	obsolete enteroinvasive Escherichia coli infectious disease				An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteroinvasive Escherichia coli (EIEC), which penetrate and multiply within epithelial cells of the colon causing cell destruction. They do not produce toxins but they possess a specific adhesin, which is an outer membrane protein. The symptoms include dysentery-like diarrhea with fever.
http://purl.obolibrary.org/obo/DOID_13305	obsolete anterior nasal diphtheria				A diphtheria that is characterized by a mucopurulent nasal discharge (containing both mucus and pus) which may become blood-tinged. A white membrane usually forms on the nasal septum. The disease is usually fairly mild because of apparent poor systemic absorption of toxin in this location, and it can be terminated rapidly by antitoxin and antibiotic therapy.
http://purl.obolibrary.org/obo/DOID_13307	obsolete pseudomembranous diphtheritic conjunctivitis				A pseudomembranous conjunctivitis characterized by swollen and reddened, hot and painful lids. The Corynebacterium diphtheriae bacilli produce profuse exudation which has a tendency to coagulate on the surface of the conjunctiva to form a grayish-white membrane.
http://purl.obolibrary.org/obo/DOID_13308	obsolete diphtheritic myocarditis				A myocarditis characterized by dilated cardiomyopathy and a variety of types of dysrhythmia and conduction disturbances. It is caused by Corynebacterium diphtheriae.
http://purl.obolibrary.org/obo/DOID_13309	obsolete nasopharyngeal diphtheria				A diphtheria that involves membrane formation from the faucial tonsil areas over the pharyngeal wall and into the nasopharynx. Severe disease may cause marked edema of the submandibular areas and the anterior neck along with lymphadenopathy, giving a characteristic bullneck apprearance.
http://purl.obolibrary.org/obo/DOID_1332	obsolete Bunyaviridae infectious disease				A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Bunyaviridae viruses, which are transmitted_by arthropod vectors.
http://purl.obolibrary.org/obo/DOID_1333	obsolete african horse sickness				A viral infectious disease that results_in infection in horses, mules, donkeys and zebras located_in lung, has_material_basis_in African horsesickness virus, which is transmitted_by biting midge, Culicoides imicola, transmitted_by Culex mosquito, transmitted_by Anopheles mosquito, transmitted_by Aedes mosquito, transmitted_by Hyalomma tick, and transmitted_by Rhipicephalus tick. The infection has_symptom tachypnea, has_symptom forced expiration, has_symptom profuse sweating, has_symptom spasmodic coughing, and has_symptom ecchymoses on the tongue.
http://purl.obolibrary.org/obo/DOID_13335	obsolete Toxoplasma hepatitis				A toxoplasmosis that involves inflammation of the liver caused by the protozoan Toxoplasma gondii, which results in jaundice.
http://purl.obolibrary.org/obo/DOID_13338	obsolete Toxoplasma myocarditis				A toxoplasmosis that involves infection of the heart with Toxoplasma gondii resulting in shortness of breath and constricting chest pain.
http://purl.obolibrary.org/obo/DOID_1334	obsolete Reoviridae infectious disease				A dsRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Reoviridae viruses.
http://purl.obolibrary.org/obo/DOID_13342	obsolete Toxoplasma pneumonia				A toxoplasmosis that is caused by the protozoan Toxoplasma gondii which is recognized as pathogen in immunocompromised patients. Microscopy of the lung shows fibrinous exudate, and necrotic areas with intra and extracellular tachizoites along the interstitium and alveolar spaces. The symptoms are cough, shortness of breath, high fever and rales.
http://purl.obolibrary.org/obo/DOID_13343	obsolete ocular toxoplasmosis				A toxoplasmosis that results from reactivation of congenital toxoplasmosis, but rarely with acquired infection. Focal necrotizing retinitis and a secondary granulomatous inflammation of the choroid occur. The symptoms include conjunctivitis, ocular pain, blurred vision, and blindness.
http://purl.obolibrary.org/obo/DOID_1335	obsolete bluetongue				A viral infectious disease that results_in infection in ruminants, has_material_basis_in Bluetongue virus, which is transmitted_by Culicoides imicola midge. The infection has_symptom fever, has_symptom excessive salivation, has_symptom swelling of the face and tongue, and has_symptom cyanosis of the tongue.
http://purl.obolibrary.org/obo/DOID_1336	obsolete Nairobi sheep disease				A viral infectious disease that results_in inflammation located_in stomach and located_in intestine of sheep and goats, has_material_basis_in Nairobi sheep disease virus, which is transmitted_by Rhipicephalus appendiculatus ticks. The infection has_symptom fever, has_symptom leukopenia, has_symptom rapid respiration, has_symptom anorexia, has_symptom profound depression, has_symptom diarrhea, and has_symptom dehydration.
http://purl.obolibrary.org/obo/DOID_13459	obsolete secondary syphilitic hepatitis				A secondary syphilis that involves infection of the liver by the spirochete Treponema pallidum, which results in the formation of hepatic lesions.
http://purl.obolibrary.org/obo/DOID_13470	obsolete primary anal syphilis				A primary syphilis that is characterized by occurence of painless sores on the anus, which is caused by the spirochete Treponema pallidum.
http://purl.obolibrary.org/obo/DOID_13526	obsolete candidal endocarditis				A candidiasis that results_in inflammation located_in endocardium, has_material_basis_in Candida, which favors previously damaged or prosthetic heart valves. The source is often an intravascular catheter or contaminated equipment used for illicit intravenous drug injection. The illness has_symptom fever, has_symptom murmur, has_symptom congestive heart failure, has_symptom anemia, and has_symptom splenomegaly.
http://purl.obolibrary.org/obo/DOID_13527	obsolete candidal otitis externa				A candidiasis that involves fungal infection of the outer ear canal caused by Candida species. The symptoms include discharge, tinnitus, pruritus, and a feeling of fullness in the ear resulting in scratching and further damage to the epidermis.
http://purl.obolibrary.org/obo/DOID_13528	obsolete candidal enteritis				A candidiasis that involves infection of the small intestine caused by Candida species, resulting in ulceration.
http://purl.obolibrary.org/obo/DOID_13601	obsolete enteropathogenic Escherichia coli infectious disease				An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteropathogenic Escherichia coli (EPEC), which has a plasmid-encoded protein referred to as EPEC adherence factor that enables localized adherence of bacteria to intestinal cells and a non fimbrial adhesin designated intimin, which is an outer membrane protein that mediates the final stages of adherence. EPEC induce a profuse watery (sometimes bloody) diarrhea.
http://purl.obolibrary.org/obo/DOID_13623	obsolete staphylococcal enterocolitis				A staphylococcal infectious disease that involves infection of the intestine caused by staphylococci, which produce toxins. The symptoms include diarrhea, abdominal pain, vomiting and nausea.
http://purl.obolibrary.org/obo/DOID_13663	obsolete acute suppurative otitis media with tympanic membrane intact				A purulent acute otitis media with no perforation of the tympanic membrane.
http://purl.obolibrary.org/obo/DOID_13720	obsolete Schistosoma mattheei infectious disease				A schistosomiasis that involves parasitic infection of domestic animals by Schistosoma mattheei.
http://purl.obolibrary.org/obo/DOID_13723	obsolete Schistosoma bovis infectious disease				A schistosomiasis that involves parasitic infection of domestic animals caused by a trematode fluke Schistosoma bovis.
http://purl.obolibrary.org/obo/DOID_13734	obsolete AIDS-related Pneumocystis jirovecii pneumonia				A Pneumocystis jirovecii pneumonia that is_a disease associated with AIDS has_material_basis_in Pneumocystis jirovecii located_in lungs affecting individuals with HIV.
http://purl.obolibrary.org/obo/DOID_13753	obsolete Histoplasma duboisii meningitis				An African histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures.
http://purl.obolibrary.org/obo/DOID_13754	obsolete Histoplasma capsulatum meningitis				An American histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures.
http://purl.obolibrary.org/obo/DOID_13755	obsolete Histoplasma duboisii pericarditis				An African histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough.
http://purl.obolibrary.org/obo/DOID_13762	obsolete bovine trypanosomiasis				A trypanosomiasis that involves infection of cattle caused by Trypanosoma vivax, which is transmitted by tsetse flies. The symptoms include fever, anemia, abortion, loss of appetite, lethargy, and progressive weight loss.
http://purl.obolibrary.org/obo/DOID_13763	obsolete dourine				A trypanosomiasis that is a chronic, sexually transmitted disease of horses and other equids, caused by the protozoan parasite Trypanosoma equiperdum, which is characterized by swelling of the genitalia, cutaneous plaques and neurological signs.
http://purl.obolibrary.org/obo/DOID_13979	obsolete primary pulmonary coccidioidomycosis				A coccidioidomycosis that results_in pneumonia located_in lungs, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom pleuritic chest pain, has_symptom respiratory failure, has_symptom pleural effusion, and results_in_formation_of pulmonary nodules.
http://purl.obolibrary.org/obo/DOID_13980	obsolete coccidioidal meningitis				A coccidioidomycosis that results_in inflammation located_in meninges, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom headache, has_symptom alterations in sensorium, and has_symptom obstructing hydrocephalus.
http://purl.obolibrary.org/obo/DOID_14311	obsolete Norovirus gastroenteritis				A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Norovirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom vomiting, has_symptom watery diarrhea, has_symptom abdominal cramps, has_symptom nausea, and has_symptom fever.
http://purl.obolibrary.org/obo/DOID_14326	obsolete avian malaria				A malaria characterized as a vector-borne infectious disease of birds caused by protozoan parasites Plasmodium relictum, Plasmodium anasum or Plasmodium gallinaceum, which are transmitted by Culex quinquefasciatus mosquitoes, causing anemia.
http://purl.obolibrary.org/obo/DOID_14338	obsolete Pseudomonal pneumonia				A Pseudomonas infectious disease that is caused by a Gram-negative bacterium Pseudomonas aeruginosa resulting in pulmonary edema. This bacterium releases immunogenic bacterial components that can gain access to airway epithelium and immune cells in the lung thus causing airway inflammation. P. aeruginosa is the common cause of hospital acquired and ventilator-associated pneumonias.
http://purl.obolibrary.org/obo/DOID_14360	obsolete Opisthorchis viverrini infectious disease				A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis viverrini. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma.
http://purl.obolibrary.org/obo/DOID_14419	obsolete Mansonella ozzardi infectious disease				A mansonelliasis that involves parasitic infection by the nematode Mansonella ozzardi, which resides in the subcutaneous tissues causing arthralgias, headaches, fever, pulmonary symptoms, adenopathy, hepatomegaly, and pruritus. Both midges and blackflies transmit the disease.
http://purl.obolibrary.org/obo/DOID_14421	obsolete Brugia malayi filariasis				A filarial elephantiasis that involves parasitic infection by the nematode Brugia malayi, which inhabits the lymphatics. The symptoms include fever, lymphadenitis, lymphangitis, lymphedema, and secondary bacterial infection.
http://purl.obolibrary.org/obo/DOID_14433	obsolete enterohemorrhagic Escherichia coli infectious disease				An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterohemorrhagic Escherichia coli (EHEC), which cause hemorrhagic colitis or bloody diarrhea that can progress to hemolytic uremic syndrome. EHEC are considered to be moderately invasive and are characterized by the production of verotoxin or Shiga toxins. The infection results in copious bloody discharge.
http://purl.obolibrary.org/obo/DOID_14434	obsolete enterotoxigenic Escherichia coli infectious disease				An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterotoxigenic Escherichia coli (ETEC), which are non-invasive and produce heat-labile enterotoxin (LT) or heat stable toxin (ST). The bacteria colonize the GI tract by means of a fimbrial adhesin. The symptoms include diarrhea without fever.
http://purl.obolibrary.org/obo/DOID_14473	obsolete adenovirus pneumonia				An adenovirus infectious disease described as the infection of the lungs by adenoviruses (1,2, 3 and 7) especially in infants and children. In mild form of infection, findings of interstitial inflammatory cell infiltration may predominate, and nuclear inclusion bodies, most prominent in alveolar lining cells, may be identified in infected cells.
http://purl.obolibrary.org/obo/DOID_14474	obsolete respiratory syncytial virus pneumonia				A respiratory syncytial virus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The disease is characterized by occasional multinucleated syncytial giant cells, hyperplasia of alveolar epithelial cells, epithelial necrosis of bronchioles and bronchi, papillary epithelial hyperplasia, and an inflammatory infiltrate composed of lymphocytes and macrophages in the peribronchial space and interstitium.
http://purl.obolibrary.org/obo/DOID_14475	obsolete parainfluenzal pneumonia				A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Human parainfluenza virus 3, which is transmitted_by contact with the respiratory secretions of an infected person. The infection leads to the formation of multinucleated giant cells derived from the respiratory epithelium. The infection has_symptom shortness of breath, has_symptom cough, and has_symptom fever.
http://purl.obolibrary.org/obo/DOID_14476	obsolete SARS coronavirus pneumonia				A severe acute respiratory syndrome that results_in infection located_in lungs, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom myalgia, has_symptom lethargy, has_symptom cough, has_symptom sore throat, has_symptom shortness of breath, and other breathing difficulties which may lead to death as a result of respiratory failure.
http://purl.obolibrary.org/obo/DOID_14477	obsolete Cytomegalovirus pneumonia				A Cytomegalovirus infectious disease that results_in inflammation, located_in lung, has_material_basis_in Human herpesvirus 5, a member of a group of herpes-type viruses especially in people who have a suppressed immune system and has_symptom cough, has_symptom fatigue, has_symptom shortness of breath, and has_symptom hypoxemia. Cytomegalovirus infection can be demonstrated microscopically by the detection of intranuclear inclusion bodies.
http://purl.obolibrary.org/obo/DOID_14520	obsolete adenovirus gastroenteritis				An adenovirus infectious disease that involves damage of the cells in the lining of the stomach and intestines caused by adenoviruses (types 40 and 41). The symptoms include watery diarrhea, vomiting and fever.
http://purl.obolibrary.org/obo/DOID_1492	obsolete eye and adnexa disease				A sensory system disease that is located_in the eye or the adnexa of the eye.
http://purl.obolibrary.org/obo/DOID_153	obsolete fibroepithelial neoplasm				A mixed neoplasm that consist of epithelial tissue, and stromal or mesenchymal tissue.
http://purl.obolibrary.org/obo/DOID_157	obsolete epithelial carcinoma				A carcinoma that derives_from the cells that line an organ.
http://purl.obolibrary.org/obo/DOID_1665	obsolete central nervous system embryonal cancer				An embryonal cancer that are masses of rapidly growing cells that originates in embryonic (fetal) tissue in the brain and spinal cord.
http://purl.obolibrary.org/obo/DOID_1730	obsolete histoplasmosis pneumonia				A pneumonia that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum or Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain.
http://purl.obolibrary.org/obo/DOID_1734	obsolete viral gastroenteritis				A gastroenteritis that involves inflammation of the stomach and intestines caused by viruses. The symptoms include abdominal cramps and pain, fever, watery diarrhea, loss of appetite, nausea, and vomiting.
http://purl.obolibrary.org/obo/DOID_338	obsolete cranial nerve neoplasm				A central nervous system cancer develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells.
http://purl.obolibrary.org/obo/DOID_4	disease				A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
http://purl.obolibrary.org/obo/HP_0003674	onset				The age group in which disease manifestations appear.
http://purl.obolibrary.org/obo/DOID_0111372	obsolete autosomal dominant endosteal hyperostosis				An osteosclerosis characterized by benign and usually asymptomatic osteosclerosis that is not associated with an increased fracture risk and craniofacial anomalies that has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13.2.
http://purl.obolibrary.org/obo/SYMP_0000462	symptom				A symptom is a perceived change in function, sensation, loss, disturbance or appearance reported by a patient indicative of a disease.
http://purl.obolibrary.org/obo/TRANS_0000000	transmission process				A process that is the means during which the pathogen is transmitted directly or indirectly from its natural reservoir, a susceptible host or source to a new host.
http://purl.obolibrary.org/obo/DOID_0111201	obsolete distal hereditary motor neuronopathy type 7A				A distal hereditary motor neuropathy type 7 characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis that has_material_basis_in heterozygous mutation in SLC5A7 on 2q12.3.
http://purl.obolibrary.org/obo/DOID_0111204	obsolete distal hereditary motor neuronopathy type 5A				A distal hereditary motor neuronopathy type 5 that has_material_basis_in heterozygous mutation in GARS on 7p14.3 or BSCL2 on 11q12.3.
http://purl.obolibrary.org/obo/DOID_0111208	obsolete distal hereditary motor neuronopathy type 2A				A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB8 on 12q24.23.
http://purl.obolibrary.org/obo/DOID_0090121	obsolete apparent mineralocorticoid excess				An adrenal gland hyperfunction characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16.
http://purl.obolibrary.org/obo/DOID_0070075	obsolete Kleefstra Syndrome				An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of the EHMT1 gene on chromosome 9q34.3.
http://purl.obolibrary.org/obo/DOID_0070076	obsolete Koolen-De Vries syndrome				An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of the KANSL1 gene on chromosome 17q21.31.
http://purl.obolibrary.org/obo/DOID_0070101	obsolete Noonan syndrome 1				A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the PTPN11 gene on chromosome 12q24.13.
http://purl.obolibrary.org/obo/DOID_0070102	obsolete Noonan syndrome 2				A Noonan syndrome that has_material_basis_in an autosomal recessive mutation.
http://purl.obolibrary.org/obo/DOID_0070103	obsolete Noonan syndrome 3				A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the KRAS gene on chromosome 12p12.1.
http://purl.obolibrary.org/obo/DOID_0070104	obsolete Noonan syndrome 4				A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the SOS1 gene on chromosome 2p22.1.
http://purl.obolibrary.org/obo/DOID_0070105	obsolete Noonan syndrome 5				A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the RAF1 gene on chromosome 3p25.2.
http://purl.obolibrary.org/obo/DOID_0070106	obsolete Noonan syndrome 6				A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the NRAS gene on chromosome 1p13.2.
http://purl.obolibrary.org/obo/DOID_0070107	obsolete Noonan syndrome 7				A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the BRAF gene on chromosome 7q34.
http://purl.obolibrary.org/obo/DOID_0070108	obsolete Noonan syndrome 8				A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the RIT1 gene on chromosome 1q22.
http://purl.obolibrary.org/obo/DOID_0070109	obsolete Noonan syndrome 9				A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the SOS2 gene on chromosome 14q21.3.
http://purl.obolibrary.org/obo/DOID_0070110	obsolete Noonan syndrome 10				A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the LZTR1 gene on chromosome 22q11.21.
http://purl.obolibrary.org/obo/DOID_0081119	obsolete benign familial infantile seizures 6				A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the CHRNA2 gene on chromosome 8p21.
http://purl.obolibrary.org/obo/DOID_0081376	obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy				A neuromuscular disease that is characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21.
http://purl.obolibrary.org/obo/ECO_0000000	evidence				A type of information that is used to support an assertion.
http://purl.obolibrary.org/obo/DOID_0070190	obsolete autosomal dominant chronic granulomatous disease				A chronic granulomatous disease characterized by autosomal dominant inheritance.
http://purl.obolibrary.org/obo/DOID_0070312	obsolete Peters-Plus Syndrome				A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip or palate, and variable developmental delay or intellectual disability.
http://purl.obolibrary.org/obo/DOID_0111292	obsolete idiopathic generalized epilepsy 10				An idiopathic generalized epilepsy that has_material_basis_in variation in the GABRD on chromosome 1p36.33.
http://purl.obolibrary.org/obo/DOID_0111312	obsolete idiopathic generalized epilepsy 11				An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CLCN2 on chromosome 3q27.1.
http://purl.obolibrary.org/obo/DOID_0111313	obsolete idiopathic generalized epilepsy 12				An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC2A1 on chromosome 1p34.2.
http://purl.obolibrary.org/obo/DOID_0111314	obsolete idiopathic generalized epilepsy 13				An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the GABRA1 on chromosome 5q34.
http://purl.obolibrary.org/obo/DOID_0111315	obsolete idiopathic generalized epilepsy 14				An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC12A5 on chromosome 20q13.12.
http://purl.obolibrary.org/obo/DOID_0111316	obsolete idiopathic generalized epilepsy 15				An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the RORB on chromosome 9q21.13.
http://purl.obolibrary.org/obo/DOID_0111317	obsolete idiopathic generalized epilepsy 2				An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 14q23.
http://purl.obolibrary.org/obo/DOID_0111318	obsolete idiopathic generalized epilepsy 3				An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 9q32-q33.
http://purl.obolibrary.org/obo/DOID_0111319	obsolete idiopathic generalized epilepsy 4				An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10q25-q26.
http://purl.obolibrary.org/obo/DOID_0111320	obsolete idiopathic generalized epilepsy 5				An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10p11.22.
http://purl.obolibrary.org/obo/DOID_0111321	obsolete idiopathic generalized epilepsy 7				An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 15q14.
http://purl.obolibrary.org/obo/DOID_0111322	obsolete idiopathic generalized epilepsy 8				An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CASR on chromosome 3q13.3-q21.1.
http://purl.obolibrary.org/obo/DOID_0111323	obsolete idiopathic generalized epilepsy 9				An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CACNB4 on chromosome 2q23.3.
http://purl.obolibrary.org/obo/DOID_0080701	obsolete prothrombin thrombophilia				A thrombophilia that is characterized by increases the risk of blood clots including deep vein thrombosis and pulmonary embolism and that has_material_basis_in heterozygous mutation in the thrombin gene (F2 gene) on chromosome 11p11.
http://purl.obolibrary.org/obo/DOID_0060963	obsolete dystonia, DOPA-responsive				A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13.
http://purl.obolibrary.org/obo/DOID_0080191	obsolete PTEN hamartoma tumor syndrome				A syndrome comprised of a spectrum of related disorders characterized by the formation of hamartomas, overgrowth, and predisposition to cancer that has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23.
http://purl.obolibrary.org/obo/DOID_0110952	obsolete Waardenburg syndrome type 2D				A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in homozygous deletion of the SNAI2 gene on chromosome 8q11.
http://purl.obolibrary.org/obo/DOID_0111794	obsolete congenital nystagmus 4				A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 13q31-q33.
http://purl.obolibrary.org/obo/DOID_0111810	obsolete syndromic microphthalmia 4				A syndromic microphthalmia characterized by clinical anophthalmia, ankyloblepharon, and intellectual deficit that has_material_basis_in hemizygous or homozygous mutation in a region of chromosome Xq27-q28.
http://purl.obolibrary.org/obo/DISDRIV_0000000	disease driver				Environmental or genetic mechanisms driving the occurrance of complex diseases.
http://purl.obolibrary.org/obo/DOID_0081164	obsolete dilated cardiomyopathy 3B				A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21.
http://purl.obolibrary.org/obo/DOID_0061095	obsolete immunodeficiency 130				A T cell deficiency that is characterized mainly by the onset of warts and verrucous or plaque-like skin lesions associated with HPV infection, usually in the first 3 decades of life and that has_material_basis_in homozygous mutation in the IL7 gene on chromosome 8q21.
http://purl.obolibrary.org/obo/DOID_0111612	obsolete autosomal recessive spinocerebellar ataxia 3				An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21.
http://purl.obolibrary.org/obo/DOID_0080713	obsolete MECP2 duplication syndrome				A syndrome that has_material_basis_in an extra copy of the MECP2 gene in each cell, occurs almost exclusively in males and that is characterized by delayed development of motor skills such as sitting and walking.
http://purl.obolibrary.org/obo/DOID_10447	obsolete thyroid dysfunction complicating pregnancy, childbirth, or the puerperium				
http://purl.obolibrary.org/obo/DOID_1045	obsolete fascia disease				
http://purl.obolibrary.org/obo/DOID_10469	obsolete diabetes mellitus juvenile type, uncontrolled, with neurological manifestations				
http://purl.obolibrary.org/obo/DOID_1047	obsolete Mental disorder complicating pregnancy, childbirth, or the puerperium				
http://purl.obolibrary.org/obo/DOID_10473	obsolete wrist or carpus enthesopathy				
http://purl.obolibrary.org/obo/DOID_10483	obsolete hypertonic, incoordinate, or prolonged uterine contractions				
http://purl.obolibrary.org/obo/DOID_10489	obsolete transient disorder of initiating or maintaining wakefulness				
http://purl.obolibrary.org/obo/DOID_10494	obsolete pulmonary valve syphilitic endocarditis				
http://purl.obolibrary.org/obo/DOID_10501	obsolete menopausal and postmenopausal disorder				
http://purl.obolibrary.org/obo/DOID_10505	obsolete generalized nonconvulsive epilepsy disease				
http://purl.obolibrary.org/obo/DOID_10521	obsolete pinna disease				
http://purl.obolibrary.org/obo/DOID_10528	obsolete Haemophilus influenzae infectious disease				
http://purl.obolibrary.org/obo/DOID_10529	obsolete primary Haemophilus infectious disease				
http://purl.obolibrary.org/obo/DOID_1053	obsolete developmental dislocation of joint				
http://purl.obolibrary.org/obo/DOID_10537	obsolete recurrent malignant gastric neoplasm				
http://purl.obolibrary.org/obo/DOID_1054	obsolete glaucoma associated with chamber angle anomalies				
http://purl.obolibrary.org/obo/DOID_10549	obsolete diabetes mellitus insulin dependent type, not stated as uncontrolled, with ophthalmic manifestations				
http://purl.obolibrary.org/obo/DOID_1055	obsolete glaucoma associated with congenital anomalies, dystrophies and systemic syndromes				
http://purl.obolibrary.org/obo/DOID_10557	obsolete maternal distress				
http://purl.obolibrary.org/obo/DOID_10561	obsolete yaws hyperkeratosis				
http://purl.obolibrary.org/obo/DOID_10569	obsolete myopathy of critical illness				
http://purl.obolibrary.org/obo/DOID_1057	obsolete inborn amino acid transport disorder				
http://purl.obolibrary.org/obo/DOID_10574	obsolete vitamin D deficiency				
http://purl.obolibrary.org/obo/DOID_1058	obsolete amino acid transport disease				
http://purl.obolibrary.org/obo/DOID_10585	obsolete hereditary and idiopathic peripheral neuropathy				
http://purl.obolibrary.org/obo/DOID_10594	obsolete idiopathic neuropathy				
http://purl.obolibrary.org/obo/DOID_10597	obsolete gonococcal meningitis				
http://purl.obolibrary.org/obo/DOID_10602	obsolete steatorrhea				
http://purl.obolibrary.org/obo/DOID_1061	obsolete renal aminoaciduria				
http://purl.obolibrary.org/obo/DOID_10621	obsolete Fissure of nipple associated with childbirth				
http://purl.obolibrary.org/obo/DOID_10626	obsolete insulin dependent type diabetes mellitus uncontrolled with ketoacidosis				
http://purl.obolibrary.org/obo/DOID_10630	obsolete optic atrophy associated with retinal dystrophy				
http://purl.obolibrary.org/obo/DOID_10645	obsolete chronic state latent schizophrenia with acute exacerbation				
http://purl.obolibrary.org/obo/DOID_10659	obsolete colonic ganglioneuroma				
http://purl.obolibrary.org/obo/DOID_10689	obsolete galactorrhea not associated with childbirth				
http://purl.obolibrary.org/obo/DOID_10708	obsolete passive-aggressive personality disorder				
http://purl.obolibrary.org/obo/DOID_10717	obsolete meningococcal septicemia				
http://purl.obolibrary.org/obo/DOID_10747	obsolete lymphoid leukemia				
http://purl.obolibrary.org/obo/DOID_1075	obsolete chronic pyelonephritis with lesion of renal medullary necrosis				
http://purl.obolibrary.org/obo/DOID_10760	obsolete choroidal rupture				
http://purl.obolibrary.org/obo/DOID_10764	obsolete liver abscess and sequelae of chronic liver disease				
http://purl.obolibrary.org/obo/DOID_10774	obsolete cutaneous plague				
http://purl.obolibrary.org/obo/DOID_10788	obsolete osteitis condensans				
http://purl.obolibrary.org/obo/DOID_10795	obsolete congenital syphilitic encephalitis				
http://purl.obolibrary.org/obo/DOID_10803	obsolete Haemophilus influenzae meningitis				
http://purl.obolibrary.org/obo/DOID_10815	obsolete recurrent duodenal cancer				
http://purl.obolibrary.org/obo/DOID_10818	obsolete leptospiral meningitis				
http://purl.obolibrary.org/obo/DOID_10827	obsolete gender identity disorder in adolescent or adult				
http://purl.obolibrary.org/obo/DOID_10836	obsolete diabetes mellitus with hyperosmolarity				
http://purl.obolibrary.org/obo/DOID_10837	obsolete diabetes mellitus,insulin dependent type with hyperosmolarity, not stated as uncontrolled				
http://purl.obolibrary.org/obo/DOID_10838	obsolete diabetes mellitus, insulin dependent type with hyperosmolarity, uncontrolled				
http://purl.obolibrary.org/obo/DOID_10848	obsolete intrauterine hypoxia and birth asphyxia				
http://purl.obolibrary.org/obo/DOID_1086	obsolete congenital chromosomal disease				
http://purl.obolibrary.org/obo/DOID_10875	obsolete premature labor				
http://purl.obolibrary.org/obo/DOID_10877	obsolete disorganized type schizophrenia chronic state with acute exacerbation				
http://purl.obolibrary.org/obo/DOID_10901	obsolete leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb				
http://purl.obolibrary.org/obo/DOID_10918	obsolete transsexuality with asexual history				
http://purl.obolibrary.org/obo/DOID_10922	obsolete sickle-cell crisis				
http://purl.obolibrary.org/obo/DOID_10924	obsolete catatonic type schizophrenia chronic state				
http://purl.obolibrary.org/obo/DOID_10925	obsolete catatonic schizophrenia				
http://purl.obolibrary.org/obo/DOID_1097	obsolete hydrops fetalis				
http://purl.obolibrary.org/obo/DOID_10998	obsolete chronic glomerulonephritis with lesion of membranoproliferative glomerulonephritis				
http://purl.obolibrary.org/obo/DOID_11000	obsolete progressive iris atrophy				
http://purl.obolibrary.org/obo/DOID_11001	obsolete Iris and ciliary body degeneration				
http://purl.obolibrary.org/obo/DOID_11002	obsolete Iridoschisis				
http://purl.obolibrary.org/obo/DOID_11003	obsolete pupillary margin miotic cyst				
http://purl.obolibrary.org/obo/DOID_11005	obsolete Atrophy of sphincter of iris				
http://purl.obolibrary.org/obo/DOID_11018	obsolete postsurgical testicular hypofunction				
http://purl.obolibrary.org/obo/DOID_11019	obsolete testicular dysfunction				
http://purl.obolibrary.org/obo/DOID_11020	obsolete chronic glomerulonephritis with lesion of proliferative glomerulonephritis				
http://purl.obolibrary.org/obo/DOID_11027	obsolete chronic glomerulonephritis with lesion of membranous glomerulonephritis				
http://purl.obolibrary.org/obo/DOID_1103	obsolete malignant esophageal neoplasm by topographic region				
http://purl.obolibrary.org/obo/DOID_1105	obsolete esophageal metastasis				
http://purl.obolibrary.org/obo/DOID_11056	obsolete Pasteurella hemorrhagic septicemia				
http://purl.obolibrary.org/obo/DOID_11074	obsolete cyst of thyroid				
http://purl.obolibrary.org/obo/DOID_1109	obsolete extracutaneous melanoma				
http://purl.obolibrary.org/obo/DOID_11091	obsolete perinatal respiratory disorder				
http://purl.obolibrary.org/obo/DOID_11096	obsolete renal syphilis				
http://purl.obolibrary.org/obo/DOID_11099	obsolete primary Rickettsiaceae infectious disease				
http://purl.obolibrary.org/obo/DOID_1110	obsolete gastrointestinal melanoma				
http://purl.obolibrary.org/obo/DOID_11106	obsolete glaucoma associated with anterior segment anomaly				
http://purl.obolibrary.org/obo/DOID_11107	obsolete glaucoma associated with ocular disorder				
http://purl.obolibrary.org/obo/DOID_1111	obsolete malignant neoplasm of cervical part of esophagus				
http://purl.obolibrary.org/obo/DOID_11110	obsolete psychosexual dysfunction with female orgasmic disease				
http://purl.obolibrary.org/obo/DOID_11118	obsolete syphilitic retrobulbar neuritis				
http://purl.obolibrary.org/obo/DOID_1112	obsolete neck cancer				
http://purl.obolibrary.org/obo/DOID_1113	obsolete malignant esophageal neoplasm by anatomic region				
http://purl.obolibrary.org/obo/DOID_11144	obsolete anthrax septicemia				
http://purl.obolibrary.org/obo/DOID_11145	obsolete Pars plana primary cyst				
http://purl.obolibrary.org/obo/DOID_11147	obsolete vascular lesions of cord complicating labor and delivery				
http://purl.obolibrary.org/obo/DOID_11150	obsolete glaucoma due to raised episcleral venous pressure				
http://purl.obolibrary.org/obo/DOID_11158	obsolete disorder of optic chiasm associated with non-pituitary neoplasm				
http://purl.obolibrary.org/obo/DOID_11163	obsolete apnea of prematurity				
http://purl.obolibrary.org/obo/DOID_11183	obsolete Haemophilus influenzae septicemia				
http://purl.obolibrary.org/obo/DOID_1119	obsolete large for dates affecting management of mother				
http://purl.obolibrary.org/obo/DOID_11215	obsolete premature rupture of the fetal membranes				
http://purl.obolibrary.org/obo/DOID_1122	obsolete spinal enthesopathy				
http://purl.obolibrary.org/obo/DOID_11248	obsolete hemorrhagic disease of newborn				
http://purl.obolibrary.org/obo/DOID_11264	obsolete Chlamydophila infectious disease				
http://purl.obolibrary.org/obo/DOID_11268	obsolete vitamin A deficiency with keratomalacia				
http://purl.obolibrary.org/obo/DOID_11271	obsolete hypertension secondary to renal disease, complicating pregnancy, childbirth and the puerperium				
http://purl.obolibrary.org/obo/DOID_11275	obsolete muscle syphilis				
http://purl.obolibrary.org/obo/DOID_11284	obsolete disseminated scars of retina				
http://purl.obolibrary.org/obo/DOID_11286	obsolete neuromuscular junction toxic disorder				
http://purl.obolibrary.org/obo/DOID_11287	obsolete conditions involving the integument and temperature regulation of fetus and newborn				
http://purl.obolibrary.org/obo/DOID_113	obsolete pneumopericardium				
http://purl.obolibrary.org/obo/DOID_11307	obsolete subchronic state latent schizophrenia with acute exacerbation				
http://purl.obolibrary.org/obo/DOID_11308	obsolete latent schizophrenia in remission				
http://purl.obolibrary.org/obo/DOID_11309	obsolete chronic latent schizophrenia				
http://purl.obolibrary.org/obo/DOID_11327	obsolete acute schizophrenic episode subchronic state with acute exacerbation				
http://purl.obolibrary.org/obo/DOID_11346	obsolete congenital osteodystrophy				
http://purl.obolibrary.org/obo/DOID_11347	obsolete Meniere's disease in remission				
http://purl.obolibrary.org/obo/DOID_11349	obsolete epilepsia partialis continua				
http://purl.obolibrary.org/obo/DOID_11350	obsolete grand mal status epilepticus				
http://purl.obolibrary.org/obo/DOID_11352	obsolete epilepsia partialis continua with intractable epilepsy				
http://purl.obolibrary.org/obo/DOID_11361	obsolete tickborne fever				
http://purl.obolibrary.org/obo/DOID_11377	obsolete calculus of gallbladder and bile duct with acute cholecystitis				
http://purl.obolibrary.org/obo/DOID_11403	obsolete depressive state induced by drug				
http://purl.obolibrary.org/obo/DOID_11409	obsolete syphilitic disseminated chorioretinitis				
http://purl.obolibrary.org/obo/DOID_1141	obsolete alternating exotropia with V pattern				
http://purl.obolibrary.org/obo/DOID_11421	obsolete acquired cavovarus foot deformity				
http://purl.obolibrary.org/obo/DOID_11436	obsolete recurrent cholesteatoma post-mastoidectomy				
http://purl.obolibrary.org/obo/DOID_11441	obsolete macrodactylia of toes				
http://purl.obolibrary.org/obo/DOID_11442	obsolete malignant mast cell tumors involving lymph node of head				
http://purl.obolibrary.org/obo/DOID_11451	obsolete secondary syphilitic meningitis				
http://purl.obolibrary.org/obo/DOID_11489	obsolete vitamin A deficiency with conjunctival xerosis and Bitot's spot				
http://purl.obolibrary.org/obo/DOID_11490	obsolete vitamin A deficiency with night blindness				
http://purl.obolibrary.org/obo/DOID_1150	obsolete bone and joint disorder of back, pelvis and lower limbs of mother, complicating pregnancy, childbirth, or the puerperium				
http://purl.obolibrary.org/obo/DOID_11524	obsolete Hyphema of iris and ciliary body				
http://purl.obolibrary.org/obo/DOID_11525	obsolete Iris and ciliary body vascular disorder				
http://purl.obolibrary.org/obo/DOID_11535	obsolete dysplasia of prostate				
http://purl.obolibrary.org/obo/DOID_11575	obsolete pneumococcal meningitis				
http://purl.obolibrary.org/obo/DOID_11578	obsolete Escherichia coli meningitis				
http://purl.obolibrary.org/obo/DOID_11582	obsolete syphilitic aortitis				
http://purl.obolibrary.org/obo/DOID_11584	obsolete acute schizophrenic episode in remission				
http://purl.obolibrary.org/obo/DOID_11597	obsolete cold injury syndrome of newborn				
http://purl.obolibrary.org/obo/DOID_11600	obsolete secondary malignant neoplasm of lymph nodes of multiple site				
http://purl.obolibrary.org/obo/DOID_11604	obsolete idiopathic hydrops fetalis				
http://purl.obolibrary.org/obo/DOID_11606	obsolete ileal disease				
http://purl.obolibrary.org/obo/DOID_11649	obsolete transitory tachypnea of newborn				
http://purl.obolibrary.org/obo/DOID_11654	obsolete nevus of ota				
http://purl.obolibrary.org/obo/DOID_11662	obsolete color vision defect				
http://purl.obolibrary.org/obo/DOID_11683	obsolete glaucoma associated with systemic syndromes				
http://purl.obolibrary.org/obo/DOID_11696	obsolete chronic hypomanic disorder				
http://purl.obolibrary.org/obo/DOID_11705	obsolete impaired renal function disease				
http://purl.obolibrary.org/obo/DOID_11711	obsolete Pregnancy in Diabetics				
http://purl.obolibrary.org/obo/DOID_11730	obsolete Borrelia infectious disease				
http://purl.obolibrary.org/obo/DOID_11732	obsolete syphilitic myocarditis				
http://purl.obolibrary.org/obo/DOID_11733	obsolete syphilitic aortic aneurysm				
http://purl.obolibrary.org/obo/DOID_11734	obsolete syphilitic pericarditis				
http://purl.obolibrary.org/obo/DOID_11735	obsolete single manic episode in full remission				
http://purl.obolibrary.org/obo/DOID_11753	obsolete biliary calculus with acute cholecystitis				
http://purl.obolibrary.org/obo/DOID_11756	obsolete calculus of bile duct with acute cholecystitis				
http://purl.obolibrary.org/obo/DOID_11770	obsolete hypersecretion of testicular hormones				
http://purl.obolibrary.org/obo/DOID_11775	obsolete hereditary trophedema				
http://purl.obolibrary.org/obo/DOID_11802	obsolete protein deficiency				
http://purl.obolibrary.org/obo/DOID_11806	obsolete macrodactylia of fingers				
http://purl.obolibrary.org/obo/DOID_11810	obsolete metastatic neoplasm to the bladder				
http://purl.obolibrary.org/obo/DOID_11815	obsolete recurrent malignant bladder neoplasm				
http://purl.obolibrary.org/obo/DOID_11828	obsolete visual cortex disorder due to vascular disorder				
http://purl.obolibrary.org/obo/DOID_1183	obsolete nephrotic syndrome with lesion of membranoproliferative glomerulonephritis				
http://purl.obolibrary.org/obo/DOID_11837	obsolete malignant neoplasm of scapula and long bones of upper limb				
http://purl.obolibrary.org/obo/DOID_11849	obsolete degenerative changes of ciliary body				
http://purl.obolibrary.org/obo/DOID_11852	obsolete aortic valve syphilitic endocarditis				
http://purl.obolibrary.org/obo/DOID_11854	obsolete monocular exotropia with A pattern				
http://purl.obolibrary.org/obo/DOID_11855	obsolete intermittent monocular exotropia				
http://purl.obolibrary.org/obo/DOID_11856	obsolete monocular exotropia with V pattern				
http://purl.obolibrary.org/obo/DOID_11861	obsolete prolonged pregnancy				
http://purl.obolibrary.org/obo/DOID_11862	obsolete late pregnancy				
http://purl.obolibrary.org/obo/DOID_11868	obsolete chronic erythremia				
http://purl.obolibrary.org/obo/DOID_11872	obsolete Staphylococcus aureus septicemia				
http://purl.obolibrary.org/obo/DOID_11873	obsolete staphylococcal septicemia				
http://purl.obolibrary.org/obo/DOID_11939	obsolete schizo-affective type schizophrenia subchronic state				
http://purl.obolibrary.org/obo/DOID_11946	obsolete habitual abortion				
http://purl.obolibrary.org/obo/DOID_11947	obsolete recurrent major depression in complete remission				
http://purl.obolibrary.org/obo/DOID_11950	obsolete Congenital cardiovascular disorder complicating pregnancy, childbirth, or the puerperium				
http://purl.obolibrary.org/obo/DOID_11952	obsolete Congenital cardiovascular disorder of mother, with delivery				
http://purl.obolibrary.org/obo/DOID_11954	obsolete psychosexual dysfunction with inhibited sexual excitement				
http://purl.obolibrary.org/obo/DOID_11955	obsolete malnutrition of moderate degree				
http://purl.obolibrary.org/obo/DOID_11970	obsolete symptomatic menopausal or female climacteric state				
http://purl.obolibrary.org/obo/DOID_11977	obsolete disorder of magnesium metabolism				
http://purl.obolibrary.org/obo/DOID_11978	obsolete chronic pyelonephritis without lesion of renal medullary necrosis				
http://purl.obolibrary.org/obo/DOID_11987	obsolete anorectal gonorrhea				
http://purl.obolibrary.org/obo/DOID_12000	obsolete secondary malignant neoplasm of trachea				
http://purl.obolibrary.org/obo/DOID_12020	obsolete malignant neoplasm of corpus uteri, except isthmus				
http://purl.obolibrary.org/obo/DOID_12021	obsolete leukemic reticuloendotheliosis of intrathoracic lymph nodes				
http://purl.obolibrary.org/obo/DOID_12022	obsolete spontaneous abortion complicated by genital tract and pelvic infectious disease				
http://purl.obolibrary.org/obo/DOID_1204	obsolete arthropathy due to hypersensitivity reaction				
http://purl.obolibrary.org/obo/DOID_12040	obsolete immune hydrops fetalis				
http://purl.obolibrary.org/obo/DOID_12056	obsolete meningitis with clear cerebrospinal fluid				
http://purl.obolibrary.org/obo/DOID_12058	obsolete Fetal-maternal hemorrhage affecting management of mother				
http://purl.obolibrary.org/obo/DOID_12061	obsolete fetal blood loss				
http://purl.obolibrary.org/obo/DOID_12065	obsolete ganglioneuroma of the mediastinum				
http://purl.obolibrary.org/obo/DOID_12076	obsolete interstitial emphysema and related conditions of newborn				
http://purl.obolibrary.org/obo/DOID_12091	obsolete vitamin A deficiency with corneal xerosis				
http://purl.obolibrary.org/obo/DOID_12092	obsolete Galactorrhea associated with childbirth				
http://purl.obolibrary.org/obo/DOID_12097	obsolete rat-bite fever				
http://purl.obolibrary.org/obo/DOID_12104	obsolete vitamin A deficiency with corneal xerosis and ulcer				
http://purl.obolibrary.org/obo/DOID_12106	obsolete tricuspid valve syphilitic endocarditis				
http://purl.obolibrary.org/obo/DOID_12107	obsolete primary retinal cyst				
http://purl.obolibrary.org/obo/DOID_12111	obsolete vitamin A deficiency with xerophthalmic corneal scar				
http://purl.obolibrary.org/obo/DOID_12113	obsolete nerve deafness				
http://purl.obolibrary.org/obo/DOID_12121	obsolete secondary syphilitic periostitis				
http://purl.obolibrary.org/obo/DOID_1213	obsolete Tympanosclerosis of tympanic membrane and ossicles				
http://purl.obolibrary.org/obo/DOID_12135	obsolete acquired factor VIII deficiency				
http://purl.obolibrary.org/obo/DOID_12136	obsolete acquired coagulation factor deficiency				
http://purl.obolibrary.org/obo/DOID_1215	obsolete Tympanosclerosis of tympanic membrane only				
http://purl.obolibrary.org/obo/DOID_12150	obsolete calculus of gallbladder with acute cholecystitis, with obstruction				
http://purl.obolibrary.org/obo/DOID_12151	obsolete currently pregnant habitual aborter				
http://purl.obolibrary.org/obo/DOID_12180	obsolete Fetal Macrosomia				
http://purl.obolibrary.org/obo/DOID_12189	obsolete metastatic tumor to the colon				
http://purl.obolibrary.org/obo/DOID_12204	obsolete catatonic schizophrenia in remission				
http://purl.obolibrary.org/obo/DOID_12221	obsolete Synovial, tendon or bursa disorder				
http://purl.obolibrary.org/obo/DOID_12223	obsolete specific bursitis often of occupational origin				
http://purl.obolibrary.org/obo/DOID_12224	obsolete calcium deposits in tendon and bursa				
http://purl.obolibrary.org/obo/DOID_12226	obsolete hearing disease				
http://purl.obolibrary.org/obo/DOID_12228	obsolete secondary malignant neoplasm of large intestine and rectum				
http://purl.obolibrary.org/obo/DOID_12251	obsolete hypoaldosteronism				
http://purl.obolibrary.org/obo/DOID_12254	obsolete metastatic tumor to the testis				
http://purl.obolibrary.org/obo/DOID_12255	obsolete congenital adrenal hyperplasia				
http://purl.obolibrary.org/obo/DOID_12256	obsolete adrenogenital disease				
http://purl.obolibrary.org/obo/DOID_12258	obsolete acquired factor IX deficiency				
http://purl.obolibrary.org/obo/DOID_12268	obsolete eclampsia with delivery				
http://purl.obolibrary.org/obo/DOID_12269	obsolete Toxemia with convulsions complicating pregnancy, childbirth or the puerperium				
http://purl.obolibrary.org/obo/DOID_12274	obsolete anisometropia and aniseikonia				
http://purl.obolibrary.org/obo/DOID_1228	obsolete paranoid type schizophrenia in remission				
http://purl.obolibrary.org/obo/DOID_12284	obsolete maternal pyrexia in labor				
http://purl.obolibrary.org/obo/DOID_12292	obsolete recurrent malignant endocervical neoplasm				
http://purl.obolibrary.org/obo/DOID_12301	obsolete speckled lentiginous nevus				
http://purl.obolibrary.org/obo/DOID_1231	obsolete chronic schizophrenia				
http://purl.obolibrary.org/obo/DOID_1232	obsolete paranoid type schizophrenia subchronic state with acute exacerbation				
http://purl.obolibrary.org/obo/DOID_12324	obsolete transsexuality with homosexual history				
http://purl.obolibrary.org/obo/DOID_12338	obsolete redundant prepuce and phimosis				
http://purl.obolibrary.org/obo/DOID_12346	obsolete hyperkinetic heart syndrome				
http://purl.obolibrary.org/obo/DOID_12356	obsolete bacterial prostatitis				
http://purl.obolibrary.org/obo/DOID_12378	obsolete predominant psychomotor disturbance				
http://purl.obolibrary.org/obo/DOID_12379	obsolete mixed disorder as reaction to stress				
http://purl.obolibrary.org/obo/DOID_1238	obsolete acute erythremia and erythroleukemia in remission				
http://purl.obolibrary.org/obo/DOID_12380	obsolete predominant disturbance of consciousness				
http://purl.obolibrary.org/obo/DOID_1239	obsolete acute erythremia and erythroleukemia				
http://purl.obolibrary.org/obo/DOID_12392	obsolete leukemic reticuloendotheliosis involving lymph nodes of head, face and neck				
http://purl.obolibrary.org/obo/DOID_12396	obsolete entropion and trichiasis of eyelid				
http://purl.obolibrary.org/obo/DOID_12417	obsolete psychogenic dysmenorrhea				
http://purl.obolibrary.org/obo/DOID_12448	obsolete hematologic pregnancy complication				
http://purl.obolibrary.org/obo/DOID_1249	obsolete Conjunctival vascular disorder and cysts				
http://purl.obolibrary.org/obo/DOID_12508	obsolete simple type schizophrenia chronic state with acute exacerbation				
http://purl.obolibrary.org/obo/DOID_12525	obsolete Lateral cutaneous femoral nerve of thigh compression or syndrome				
http://purl.obolibrary.org/obo/DOID_12538	obsolete Chlamydia trachomatis pharyngitis				
http://purl.obolibrary.org/obo/DOID_12539	obsolete Chlamydia trachomatis proctitis				
http://purl.obolibrary.org/obo/DOID_12541	obsolete catatonic type schizophrenia subchronic state				
http://purl.obolibrary.org/obo/DOID_12542	obsolete catatonic type schizophrenia subchronic state with acute exacerbation				
http://purl.obolibrary.org/obo/DOID_12543	obsolete catatonic type schizophrenia chronic state with acute exacerbation				
http://purl.obolibrary.org/obo/DOID_12551	obsolete Escherichia coli septicemia				
http://purl.obolibrary.org/obo/DOID_12555	obsolete acute renal failure with lesion of renal cortical necrosis				
http://purl.obolibrary.org/obo/DOID_1257	obsolete Transient hypertension of pregnancy				
http://purl.obolibrary.org/obo/DOID_12582	obsolete enthesopathy of elbow				
http://purl.obolibrary.org/obo/DOID_12584	obsolete Diabetes mellitus of mother, with delivery				
http://purl.obolibrary.org/obo/DOID_12604	obsolete secondary malignant neoplasm of suprarenal gland				
http://purl.obolibrary.org/obo/DOID_12605	obsolete metastasis to adrenals				
http://purl.obolibrary.org/obo/DOID_1261	obsolete AIDS-related pelvic inflammatory disease				
http://purl.obolibrary.org/obo/DOID_12610	obsolete adrenal hemorrhage of fetus or newborn				
http://purl.obolibrary.org/obo/DOID_12612	obsolete gastrointestinal hemorrhage of fetus or newborn				
http://purl.obolibrary.org/obo/DOID_12647	obsolete Congenital or acquired abnormality of vulva, with delivery				
http://purl.obolibrary.org/obo/DOID_12651	obsolete disorder of optic chiasm associated with inflammatory disorder				
http://purl.obolibrary.org/obo/DOID_12670	obsolete fusion with defective stereopsis				
http://purl.obolibrary.org/obo/DOID_1269	obsolete thyroid gland tuberculosis				
http://purl.obolibrary.org/obo/DOID_12694	obsolete hyperemesis gravidarum with metabolic disturbance				
http://purl.obolibrary.org/obo/DOID_12702	obsolete Rotator cuff shoulder syndrome and allied disorder				
http://purl.obolibrary.org/obo/DOID_12713	obsolete medullary sponge kidney				
http://purl.obolibrary.org/obo/DOID_12715	obsolete infectious myositis				
http://purl.obolibrary.org/obo/DOID_12722	obsolete liver metastasis				
http://purl.obolibrary.org/obo/DOID_12723	obsolete lung carcinoma metastatic to the liver				
http://purl.obolibrary.org/obo/DOID_12724	obsolete breast arcinoma metastatic to the liver				
http://purl.obolibrary.org/obo/DOID_12727	obsolete retroverted incarcerated gravid uterus				
http://purl.obolibrary.org/obo/DOID_12758	obsolete malignant neoplasm of eyeball, except conjunctiva, cornea, retina and choroid				
http://purl.obolibrary.org/obo/DOID_12784	obsolete diabetes mellitus insulin dependent type, not stated as uncontrolled, with neurological manifestations				
http://purl.obolibrary.org/obo/DOID_12796	obsolete Posterior synechiae				
http://purl.obolibrary.org/obo/DOID_128	obsolete vaginal soft tissue tumor				
http://purl.obolibrary.org/obo/DOID_12838	obsolete secondary thyroid hyperplasia				
http://purl.obolibrary.org/obo/DOID_12839	obsolete thyrotoxicosis from ectopic thyroid nodule				
http://purl.obolibrary.org/obo/DOID_12843	obsolete polyneuritis				
http://purl.obolibrary.org/obo/DOID_12852	obsolete adhesions of drum head to incus				
http://purl.obolibrary.org/obo/DOID_12853	obsolete adhesions of drum head to promontorium				
http://purl.obolibrary.org/obo/DOID_12854	obsolete adhesions of drum head to stapes				
http://purl.obolibrary.org/obo/DOID_12860	obsolete non-neoplastic nevus of skin				
http://purl.obolibrary.org/obo/DOID_12863	obsolete senile nevus				
http://purl.obolibrary.org/obo/DOID_12864	obsolete acrosyringeal nevus				
http://purl.obolibrary.org/obo/DOID_12879	obsolete Pars plana exudative cyst				
http://purl.obolibrary.org/obo/DOID_12881	obsolete idiopathic urticaria				
http://purl.obolibrary.org/obo/DOID_12910	obsolete sickle-cell/Hb-C disease with crisis				
http://purl.obolibrary.org/obo/DOID_12921	obsolete childhood schizophrenia				
http://purl.obolibrary.org/obo/DOID_12922	obsolete acute undifferentiated schizophrenia				
http://purl.obolibrary.org/obo/DOID_12923	obsolete chronic undifferentiated schizophrenia				
http://purl.obolibrary.org/obo/DOID_12928	obsolete nutritional cardiomyopathy				
http://purl.obolibrary.org/obo/DOID_12936	obsolete secondary cardiomyopathy				
http://purl.obolibrary.org/obo/DOID_12973	obsolete secondary malignant neoplasm of intrapelvic lymph node				
http://purl.obolibrary.org/obo/DOID_12983	obsolete transient disorder of initiating or maintaining sleep				
http://purl.obolibrary.org/obo/DOID_12985	obsolete functional disorder of polymorphonuclear neutrophils				
http://purl.obolibrary.org/obo/DOID_130	obsolete female genitalia nevus				
http://purl.obolibrary.org/obo/DOID_13023	obsolete sickle cell trait				
http://purl.obolibrary.org/obo/DOID_13040	obsolete syphilitic optic atrophy				
http://purl.obolibrary.org/obo/DOID_13063	obsolete moderate recurrent major depression				
http://purl.obolibrary.org/obo/DOID_13121	obsolete deficiency anemia				
http://purl.obolibrary.org/obo/DOID_1314	obsolete wasting syndrome				
http://purl.obolibrary.org/obo/DOID_13157	obsolete sensory disorder of eyelid				
http://purl.obolibrary.org/obo/DOID_13175	obsolete female genital tuberculosis				
http://purl.obolibrary.org/obo/DOID_13177	obsolete chronic erythremia in remission				
http://purl.obolibrary.org/obo/DOID_13192	obsolete pulmonary congestion and hypostasis				
http://purl.obolibrary.org/obo/DOID_13194	obsolete non-toxic nodular goiter				
http://purl.obolibrary.org/obo/DOID_13202	obsolete secondary syphilitic iridocyclitis				
http://purl.obolibrary.org/obo/DOID_13211	obsolete secondary malignant neoplasm of brain and spinal cord				
http://purl.obolibrary.org/obo/DOID_13212	obsolete metastasis to skin				
http://purl.obolibrary.org/obo/DOID_13213	obsolete metastatic cancer to the breast				
http://purl.obolibrary.org/obo/DOID_13219	obsolete transsexuality with heterosexual history				
http://purl.obolibrary.org/obo/DOID_13224	obsolete introverted personality				
http://purl.obolibrary.org/obo/DOID_1323	obsolete malignant neoplasm of trachea, bronchus and lung				
http://purl.obolibrary.org/obo/DOID_13232	obsolete Diffuse cholesteatosis of middle ear and mastoid				
http://purl.obolibrary.org/obo/DOID_13253	obsolete jejunal disease				
http://purl.obolibrary.org/obo/DOID_13262	obsolete hallucinatory state induced by drug				
http://purl.obolibrary.org/obo/DOID_13315	obsolete relapsing pancreatitis				
http://purl.obolibrary.org/obo/DOID_13319	obsolete lower limb lymph node mast cell malignancy				
http://purl.obolibrary.org/obo/DOID_13350	obsolete gender identity disorder in children				
http://purl.obolibrary.org/obo/DOID_13361	obsolete nephrotic syndrome with lesion of proliferative glomerulonephritis				
http://purl.obolibrary.org/obo/DOID_13364	obsolete chronobiology disease				
http://purl.obolibrary.org/obo/DOID_13376	obsolete congenital aortic insufficiency				
http://purl.obolibrary.org/obo/DOID_13380	obsolete acute pyelonephritis with lesion of renal medullary necrosis				
http://purl.obolibrary.org/obo/DOID_13387	obsolete upper limb cancer				
http://purl.obolibrary.org/obo/DOID_13397	obsolete atypical manic disorder				
http://purl.obolibrary.org/obo/DOID_13398	obsolete open angle with borderline glaucoma findings				
http://purl.obolibrary.org/obo/DOID_13408	obsolete metastasis to pleura				
http://purl.obolibrary.org/obo/DOID_1341	obsolete congenital anemia				
http://purl.obolibrary.org/obo/DOID_13416	obsolete diabetes mellitus insulin dependent type, not stated as uncontrolled, with peripheral circulatory disorder				
http://purl.obolibrary.org/obo/DOID_13468	obsolete primary genital syphilis				
http://purl.obolibrary.org/obo/DOID_13469	obsolete secondary cutaneous syphilis				
http://purl.obolibrary.org/obo/DOID_13471	obsolete secondary syphilitic lymphadenitis				
http://purl.obolibrary.org/obo/DOID_13480	obsolete paranoid type schizophrenia chronic state with acute exacerbation				
http://purl.obolibrary.org/obo/DOID_13484	obsolete disorganized type schizophrenia chronic state				
http://purl.obolibrary.org/obo/DOID_13518	obsolete stiffness of joint				
http://purl.obolibrary.org/obo/DOID_13535	obsolete intrapelvic lymph node mast cell malignancy				
http://purl.obolibrary.org/obo/DOID_13554	obsolete gonococcal peritonitis				
http://purl.obolibrary.org/obo/DOID_13555	obsolete pharyngeal gonorrhea				
http://purl.obolibrary.org/obo/DOID_13556	obsolete gonococcal keratosis				
http://purl.obolibrary.org/obo/DOID_13558	obsolete gonococcal urethritis				
http://purl.obolibrary.org/obo/DOID_1356	obsolete lymphoma by site				
http://purl.obolibrary.org/obo/DOID_13562	obsolete glaucoma associated with pupillary block				
http://purl.obolibrary.org/obo/DOID_13573	obsolete schizo-affective type schizophrenia chronic state with acute exacerbation				
http://purl.obolibrary.org/obo/DOID_13577	obsolete ascorbic acid deficiency				
http://purl.obolibrary.org/obo/DOID_13581	obsolete magnesium deficiency				
http://purl.obolibrary.org/obo/DOID_13582	obsolete potassium deficiency				
http://purl.obolibrary.org/obo/DOID_13583	obsolete fetal nutrition disorder				
http://purl.obolibrary.org/obo/DOID_13602	obsolete acute schizophrenic episode subchronic state				
http://purl.obolibrary.org/obo/DOID_13604	obsolete acute schizophrenic episode chronic state with acute exacerbation				
http://purl.obolibrary.org/obo/DOID_13605	obsolete acute schizophrenic episode chronic state				
http://purl.obolibrary.org/obo/DOID_13643	obsolete pneumococcal septicemia				
http://purl.obolibrary.org/obo/DOID_13644	obsolete streptococcal septicemia				
http://purl.obolibrary.org/obo/DOID_13648	obsolete paranoid state				
http://purl.obolibrary.org/obo/DOID_13650	obsolete joint disorder				
http://purl.obolibrary.org/obo/DOID_13668	obsolete meningococcal encephalitis				
http://purl.obolibrary.org/obo/DOID_13670	obsolete hypocalcemia and hypomagnesemia of newborn				
http://purl.obolibrary.org/obo/DOID_13679	obsolete simple type schizophrenia subchronic state				
http://purl.obolibrary.org/obo/DOID_13680	obsolete simple type schizophrenia subchronic state with acute exacerbation				
http://purl.obolibrary.org/obo/DOID_13681	obsolete simple type schizophrenia in remission				
http://purl.obolibrary.org/obo/DOID_13682	obsolete simple type schizophrenia chronic state				
http://purl.obolibrary.org/obo/DOID_13693	obsolete disorder of ureter				
http://purl.obolibrary.org/obo/DOID_13694	obsolete unilateral vesicoureteral reflux with reflux nephropathy				
http://purl.obolibrary.org/obo/DOID_13695	obsolete bilateral vesicoureteral reflux with reflux nephropathy				
http://purl.obolibrary.org/obo/DOID_13696	obsolete vesicoureteral reflux with reflux nephropathy				
http://purl.obolibrary.org/obo/DOID_13702	obsolete postpartum benign essential hypertension				
http://purl.obolibrary.org/obo/DOID_1376	obsolete perinatal infectious disease				
http://purl.obolibrary.org/obo/DOID_1378	obsolete uterine corpus mixed epithelial and mesenchymal tumor				
http://purl.obolibrary.org/obo/DOID_13817	obsolete single episode manic disease moderate degree				
http://purl.obolibrary.org/obo/DOID_13818	obsolete single episode manic disorder mild degree				
http://purl.obolibrary.org/obo/DOID_13820	obsolete congenital pneumonia				
http://purl.obolibrary.org/obo/DOID_13837	obsolete convergence excess or spasm				
http://purl.obolibrary.org/obo/DOID_1384	obsolete Chlamydia trachomatis urethritis				
http://purl.obolibrary.org/obo/DOID_13844	obsolete suppressed lactation - delivered				
http://purl.obolibrary.org/obo/DOID_13845	obsolete suppressed lactation				
http://purl.obolibrary.org/obo/DOID_13850	obsolete acquired hallux varus				
http://purl.obolibrary.org/obo/DOID_13869	obsolete psychosexual dysfunction with male orgasmic disease				
http://purl.obolibrary.org/obo/DOID_13887	obsolete residual chronic schizophrenia				
http://purl.obolibrary.org/obo/DOID_13906	obsolete malignant pleural effusion				
http://purl.obolibrary.org/obo/DOID_13923	obsolete acute psychogenic paranoid psychosis				
http://purl.obolibrary.org/obo/DOID_13954	obsolete mitotically active variant uterine corpus leiomyoma				
http://purl.obolibrary.org/obo/DOID_13962	obsolete peripheral focal retinitis and retinochoroiditis				
http://purl.obolibrary.org/obo/DOID_13969	obsolete schizo-affective type schizophrenia subchronic state with acute exacerbation				
http://purl.obolibrary.org/obo/DOID_13970	obsolete schizo-affective type schizophrenia chronic state				
http://purl.obolibrary.org/obo/DOID_13975	obsolete metastatic tumor to the brain stem				
http://purl.obolibrary.org/obo/DOID_13995	obsolete secondary malignant neoplasm to the small Intestine				
http://purl.obolibrary.org/obo/DOID_14001	obsolete diabetes mellitus insulin dependent type, uncontrolled, with peripheral circulatory disorder				
http://purl.obolibrary.org/obo/DOID_1402	obsolete agalactia				
http://purl.obolibrary.org/obo/DOID_14038	obsolete precocious puberty				
http://purl.obolibrary.org/obo/DOID_14041	obsolete endocrine tuberculosis				
http://purl.obolibrary.org/obo/DOID_14044	obsolete rheumatic pericarditis				
http://purl.obolibrary.org/obo/DOID_14045	obsolete syndrome of infant of a diabetic mother				
http://purl.obolibrary.org/obo/DOID_14056	obsolete rheumatic endocarditis				
http://purl.obolibrary.org/obo/DOID_14063	obsolete acute glomerulonephritis with lesion of rapidly progressive glomerulonephritis				
http://purl.obolibrary.org/obo/DOID_14072	obsolete neoplastic pregnancy complications				
http://purl.obolibrary.org/obo/DOID_14090	obsolete heartwater disease				
http://purl.obolibrary.org/obo/DOID_14108	obsolete syphilitic peritonitis				
http://purl.obolibrary.org/obo/DOID_14114	obsolete congenital adhesion of tongue				
http://purl.obolibrary.org/obo/DOID_14117	obsolete group A hyperlipidemia				
http://purl.obolibrary.org/obo/DOID_14157	obsolete malnutrition of mild degree				
http://purl.obolibrary.org/obo/DOID_14163	obsolete metastatic malignant tumor to the anus				
http://purl.obolibrary.org/obo/DOID_14178	obsolete immunodeficiency with increased IgM				
http://purl.obolibrary.org/obo/DOID_14182	obsolete metastatic tumor to the choroid				
http://purl.obolibrary.org/obo/DOID_1419	obsolete residual schizophrenia subchronic state with acute exacerbation				
http://purl.obolibrary.org/obo/DOID_14190	obsolete shared paranoid disease				
http://purl.obolibrary.org/obo/DOID_14191	obsolete simple paranoid state				
http://purl.obolibrary.org/obo/DOID_14200	obsolete diplopia				
http://purl.obolibrary.org/obo/DOID_14215	obsolete hyperamylasemia				
http://purl.obolibrary.org/obo/DOID_14258	obsolete leukemic reticuloendotheliosis of lymph nodes of inguinal region and lower limb				
http://purl.obolibrary.org/obo/DOID_14263	obsolete fits in newborn				
http://purl.obolibrary.org/obo/DOID_1427	obsolete disorder of pancreatic internal secretion				
http://purl.obolibrary.org/obo/DOID_14278	obsolete arthropathy of the hand				
http://purl.obolibrary.org/obo/DOID_14312	obsolete nontoxic uninodular goiter				
http://purl.obolibrary.org/obo/DOID_14313	obsolete thyroid nodule				
http://purl.obolibrary.org/obo/DOID_14327	obsolete gonococcal pericarditis				
http://purl.obolibrary.org/obo/DOID_14339	obsolete paraphrenia				
http://purl.obolibrary.org/obo/DOID_14363	obsolete congenital syphilitic meningitis				
http://purl.obolibrary.org/obo/DOID_14401	obsolete cutis marmorata				
http://purl.obolibrary.org/obo/DOID_1442	obsolete Alpers syndrome				
http://purl.obolibrary.org/obo/DOID_14425	obsolete secondary malignant neoplasm of intra-abdominal lymph node				
http://purl.obolibrary.org/obo/DOID_14426	obsolete secondary malignant neoplasm of intrathoracic lymph node				
http://purl.obolibrary.org/obo/DOID_14467	obsolete drug-induced persisting amnestic disease				
http://purl.obolibrary.org/obo/DOID_14490	obsolete metastasis to the ureter				
http://purl.obolibrary.org/obo/DOID_14492	obsolete metastatic neoplasm of ureter				
http://purl.obolibrary.org/obo/DOID_145	obsolete papilledema associated with retinal disorder				
http://purl.obolibrary.org/obo/DOID_14518	obsolete Idiopathic cysts of iris and ciliary body				
http://purl.obolibrary.org/obo/DOID_14521	obsolete cutaneous breast cancer				
http://purl.obolibrary.org/obo/DOID_14530	obsolete syringomyelia and syringobulbia				
http://purl.obolibrary.org/obo/DOID_14539	obsolete metastasis to heart				
http://purl.obolibrary.org/obo/DOID_14542	obsolete macular or paramacular focal retinitis and retinochoroiditis				
http://purl.obolibrary.org/obo/DOID_14549	obsolete Tympanosclerosis involving tympanic membrane, ear ossicles and middle ear				
http://purl.obolibrary.org/obo/DOID_14558	obsolete nontoxic multinodular goiter				
http://purl.obolibrary.org/obo/DOID_1465	obsolete Salmonella septicemia				
http://purl.obolibrary.org/obo/DOID_1466	obsolete Salmonella infectious disease				
http://purl.obolibrary.org/obo/DOID_14676	obsolete congenital contricting bands				
http://purl.obolibrary.org/obo/DOID_14680	obsolete hereditary inflammatory vasculitis				
http://purl.obolibrary.org/obo/DOID_1469	obsolete single major depressive episode in full remission				
http://purl.obolibrary.org/obo/DOID_14727	obsolete dominant cogenital severe sensorineural deafness				
http://purl.obolibrary.org/obo/DOID_14739	obsolete progressive high-tone neural deafness				
http://purl.obolibrary.org/obo/DOID_14787	obsolete Fryns syndrome				
http://purl.obolibrary.org/obo/DOID_1486	obsolete secondary syphilitic chorioretinitis				
http://purl.obolibrary.org/obo/DOID_1487	obsolete secondary syphilitic uveitis				
http://purl.obolibrary.org/obo/DOID_1491	obsolete corneal anesthesia and hypoesthesia				
http://purl.obolibrary.org/obo/DOID_1499	obsolete Vibrio infectious disease				
http://purl.obolibrary.org/obo/DOID_1511	obsolete residual schizophrenia chronic state with acute exacerbation				
http://purl.obolibrary.org/obo/DOID_1515	obsolete mitral valve syphilitic endocarditis				
http://purl.obolibrary.org/obo/DOID_1516	obsolete syphilitic endocarditis				
http://purl.obolibrary.org/obo/DOID_1528	obsolete penile non-neoplastic disease				
http://purl.obolibrary.org/obo/DOID_1530	obsolete male non-neoplastic reproductive system disease				
http://purl.obolibrary.org/obo/DOID_1543	obsolete metastatic neoplasm of parathyroid				
http://purl.obolibrary.org/obo/DOID_155	obsolete glandular and epithelial neoplasm				
http://purl.obolibrary.org/obo/DOID_1550	obsolete gestational diabetes complicating pregnancy, childbirth, or the puerperium				
http://purl.obolibrary.org/obo/DOID_1568	obsolete calculus of gallbladder and bile duct with acute and chronic cholecystitis				
http://purl.obolibrary.org/obo/DOID_1585	obsolete rheumatic pneumonia				
http://purl.obolibrary.org/obo/DOID_159	obsolete mesothelial neoplasm				
http://purl.obolibrary.org/obo/DOID_1592	obsolete secondary malignant neoplasm of retroperitoneum and peritoneum				
http://purl.obolibrary.org/obo/DOID_1593	obsolete metastasis to the peritoneum				
http://purl.obolibrary.org/obo/DOID_1597	obsolete single episode mild major depression				
http://purl.obolibrary.org/obo/DOID_1599	obsolete single episode moderate major depression				
http://purl.obolibrary.org/obo/DOID_1620	obsolete breast fibroepithelial tumor				
http://purl.obolibrary.org/obo/DOID_1624	obsolete breast soft tissue tumor				
http://purl.obolibrary.org/obo/DOID_163	obsolete mucoepidermoid tumor				
http://purl.obolibrary.org/obo/DOID_1634	obsolete breast papillomatosis				
http://purl.obolibrary.org/obo/DOID_164	obsolete cystic, mucinous, and serous neoplasm				
http://purl.obolibrary.org/obo/DOID_1661	obsolete malignant intracranial germ cell neoplasm				
http://purl.obolibrary.org/obo/DOID_1666	obsolete hip enthesopathy				
http://purl.obolibrary.org/obo/DOID_1667	obsolete peripheral enthesopathy				
http://purl.obolibrary.org/obo/DOID_1685	obsolete glaucoma associated with vascular disorder				
http://purl.obolibrary.org/obo/DOID_1695	obsolete congenital ichthyosis				
http://purl.obolibrary.org/obo/DOID_1699	obsolete congenital ichthyosiform erythroderma				
http://purl.obolibrary.org/obo/DOID_1709	obsolete rickettsiosis				
http://purl.obolibrary.org/obo/DOID_1741	obsolete drug-induced psychotic disease with delusion				
http://purl.obolibrary.org/obo/DOID_1744	obsolete malignant lymphatic vessel tumor				
http://purl.obolibrary.org/obo/DOID_2214	obsolete inherited blood coagulation disease				
http://purl.obolibrary.org/obo/DOID_2481	obsolete infantile epileptic encephalopathy				
http://purl.obolibrary.org/obo/DOID_715	obsolete T-cell lymphoblastic leukemia/lymphoma				
http://purl.obolibrary.org/obo/NCBITaxon_1	ncbitaxon				
http://purl.obolibrary.org/obo/UBERON_0001062	anatomy				
http://purl.obolibrary.org/obo/GENO_0000141	inheritance pattern				
http://purl.obolibrary.org/obo/UPHENO_0001001	phenotype				
http://purl.obolibrary.org/obo/DOID_0080220	obsolete major affective disorder 1				
http://purl.obolibrary.org/obo/DOID_0080221	obsolete major affective disorder 2				
http://purl.obolibrary.org/obo/DOID_0080229	obsolete autosomal dominant mental retardation 61				
http://purl.obolibrary.org/obo/DOID_0080340	obsolete X-linked dominant disease				
http://purl.obolibrary.org/obo/DOID_0080341	obsolete X-linked recessive disease				
http://purl.obolibrary.org/obo/doid#chebi	chebi				
http://purl.obolibrary.org/obo/DOID_0080783	obsolete X-linked sensorineural deafness				
http://purl.obolibrary.org/obo/doid#sequence	sequence				
http://purl.obolibrary.org/obo/FOODON_00002403	food material				
http://purl.obolibrary.org/obo/DOID_0070175	obsolete spermatogenic failure 9				
http://purl.obolibrary.org/obo/MIM_000000	omim_susceptibility				
http://purl.obolibrary.org/obo/MIM_607681	obsolete susceptibility to childhood absence epilepsy 2				
http://purl.obolibrary.org/obo/MIM_615032	obsolete susceptibility to autism 18				
http://purl.obolibrary.org/obo/MIM_616568	obsolete glioma susceptibility 9				
http://purl.obolibrary.org/obo/RO_0002202	develops from	http://purl.obolibrary.org/obo/RO_0002254	has developmental contribution from		
http://purl.obolibrary.org/obo/RO_0002254	has developmental contribution from	http://purl.obolibrary.org/obo/RO_0002258	developmentally preceded by		
http://purl.obolibrary.org/obo/RO_0002258	developmentally preceded by	http://purl.obolibrary.org/obo/RO_0002324	developmentally related to		
http://purl.obolibrary.org/obo/RO_0000087	has role	http://purl.obolibrary.org/obo/RO_0000053	has characteristic		
http://purl.obolibrary.org/obo/RO_0007001	has disease driver	http://purl.obolibrary.org/obo/RO_0007000	has driver		
http://purl.obolibrary.org/obo/RO_0002452	has symptom	http://purl.obolibrary.org/obo/RO_0002200	has phenotype		
http://purl.obolibrary.org/obo/RO_0002241	has exposure stressor	http://purl.obolibrary.org/obo/RO_0002309	has exposure stimulus		
http://purl.obolibrary.org/obo/RO_0002200	has phenotype	http://purl.obolibrary.org/obo/RO_0016001	has phenotype or disease		
http://purl.obolibrary.org/obo/RO_0001020	is allergic trigger for	http://purl.obolibrary.org/obo/RO_0003302	causes or contributes to condition		
http://purl.obolibrary.org/obo/RO_0001021	is autoimmune trigger for	http://purl.obolibrary.org/obo/RO_0003302	causes or contributes to condition		
http://purl.obolibrary.org/obo/RO_0003304	contributes to condition	http://purl.obolibrary.org/obo/RO_0003302	causes or contributes to condition		
http://purl.obolibrary.org/obo/RO_0003303	causes condition	http://purl.obolibrary.org/obo/RO_0003302	causes or contributes to condition		
http://purl.obolibrary.org/obo/RO_0001022	has allergic trigger	http://purl.obolibrary.org/obo/RO_0003302	causes or contributes to condition		
http://purl.obolibrary.org/obo/RO_0002490	existence overlaps	http://purl.obolibrary.org/obo/RO_0002487	relation between physical entity and a process or stage		
http://purl.obolibrary.org/obo/RO_0002496	existence starts during or after	http://purl.obolibrary.org/obo/RO_0002487	relation between physical entity and a process or stage		
http://purl.obolibrary.org/obo/RO_0002488	existence starts during	http://purl.obolibrary.org/obo/RO_0002496	existence starts during or after		
http://purl.obolibrary.org/obo/RO_0002309	has exposure stimulus	http://purl.obolibrary.org/obo/RO_0002244	related via exposure to		
http://purl.obolibrary.org/obo/RO_0002220	adjacent to	http://purl.obolibrary.org/obo/RO_0002163	spatially disjoint from		
http://purl.obolibrary.org/obo/RO_0002163	spatially disjoint from	http://purl.obolibrary.org/obo/RO_0002323	mereotopologically related to		
http://purl.obolibrary.org/obo/RO_0002451	transmitted by	http://purl.obolibrary.org/obo/RO_0002321	ecologically related to		
http://purl.obolibrary.org/obo/RO_0004005	has major susceptibility factor	http://purl.obolibrary.org/obo/RO_0004000	condition has genetic basis in		
http://purl.obolibrary.org/obo/RO_0004000	condition has genetic basis in	http://purl.obolibrary.org/obo/RO_0002410	causally related to		
http://purl.obolibrary.org/obo/RO_0004019	disease has basis in	http://purl.obolibrary.org/obo/RO_0004023	causal relationship with disease as subject		
http://purl.obolibrary.org/obo/RO_0003302	causes or contributes to condition	http://purl.obolibrary.org/obo/RO_0002410	causally related to		
http://purl.obolibrary.org/obo/RO_0002244	related via exposure to	http://purl.obolibrary.org/obo/RO_0002410	causally related to		
http://purl.obolibrary.org/obo/RO_0004017	realizable has basis in	http://purl.obolibrary.org/obo/RO_0002410	causally related to		
http://purl.obolibrary.org/obo/RO_0004023	causal relationship with disease as subject	http://purl.obolibrary.org/obo/RO_0040035	disease relationship		
http://purl.obolibrary.org/obo/RO_0004029	disease has feature	http://purl.obolibrary.org/obo/RO_0040035	disease relationship		
http://purl.obolibrary.org/obo/RO_0004026	disease has location	http://purl.obolibrary.org/obo/RO_0040035	disease relationship		
http://purl.obolibrary.org/obo/RO_0007000	has driver				A relation between two entities, in which one of the entities is any natural or human-influenced factor that directly or indirectly causes a change in the other entity.
http://purl.obolibrary.org/obo/IDO_0000664	has material basis in				Relating the disease to it’s causation (disease and disorder).
http://purl.obolibrary.org/obo/RO#_is_a	is_a				Relation defining child to partent inheritance type.
http://purl.obolibrary.org/obo/RO_0002324	developmentally related to				
http://purl.obolibrary.org/obo/RO_0000053	has characteristic				
http://purl.obolibrary.org/obo/RO_0001000	derives from				
http://purl.obolibrary.org/obo/RO_0003000	produces				
http://purl.obolibrary.org/obo/RO_0003001	produced by				
http://purl.obolibrary.org/obo/RO_0016001	has phenotype or disease				
http://purl.obolibrary.org/obo/BFO_0000051	has part				
http://purl.obolibrary.org/obo/RO_0002487	relation between physical entity and a process or stage				
http://purl.obolibrary.org/obo/so#has_origin	has_origin				
http://purl.obolibrary.org/obo/BFO_0000050	part of				
http://purl.obolibrary.org/obo/RO_0002323	mereotopologically related to				
http://purl.obolibrary.org/obo/RO_0002321	ecologically related to				
http://purl.obolibrary.org/obo/RO_0002410	causally related to				
http://purl.obolibrary.org/obo/RO_0040035	disease relationship