Experimental Factor Ontology
107 terms(s) returned
| Term Type: | Record: 1 to 50 of 107 Records | Page: 1 of 3, First Previous Next Last | Show Records Per Page |
- DNA repair defect other than combined T-cell and B-cell immunodeficiencies
- DPM1-CDG
- Dacryocystitis - osteopoikilosis
- Dandy-Walker malformation - postaxial polydactyly
- Deafness - small bowel diverticulosis - neuropathy
- Deafness - ear malformation - facial palsy
- Deafness - encephaloneuropathy - obesity - valvulopathy
- Deafness - epiphyseal dysplasia - short stature
- Deafness - genital anomalies - metacarpal and metatarsal synostosis
- Deafness - hypogonadism
- Deafness - intellectual disability, Martin-Probst type
- Deafness - lymphedema - leukemia
- Deafness - oligodontia
- Deafness - vitiligo - achalasia
- Deficiency in anterior pituitary function-variable immunodeficiency syndrome
- Dehydratase deficiency
- Dejerine-Sottas syndrome
- Delayed speech - facial asymmetry - strabismus - ear lobe creases
- Dental ankylosis
- Dentatorubral pallidoluysian atrophy
- Dentin dysplasia - sclerotic bones
- Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability
- Dentocutaneous disease with cataract
- Dermato-cardio-skeletal syndrome, Borrone type
- Desbuquois syndrome
- Desminopathy
- Developmental delay - deafness, Hildebrand type
- Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
- Developmental malformations - deafness - dystonia
- Diaphragmatic defect - limb deficiency - skull defect
- Diaphyseal medullary stenosis - bone malignancy
- Diastrophic dwarfism
- Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
- Diffuse palmoplantar keratoderma-acrocyanosis syndrome
- Digital anomalies - intellectual disability - short stature
- Dilated cardiomyopathy - hypergonadotropic hypogonadism
- Dilated cardiomyopathy with ataxia
- Disease associated with non-acquired combined pituitary hormone deficiency
- Disease with diffuse palmoplantar keratoderma as a major feature
- Disease with focal palmoplantar keratoderma as a major feature
- Disease with potential neoplastic degeneration associated with ocular features
- Disease with punctate palmoplantar keratoderma as a major feature
- Dislocation of the hip - dysmorphism
- Disorder of amino acid absorption and transport
- Disorder of amino acid and other organic acid metabolism
- Disorder of bile acid synthesis
- Disorder of bilirubin metabolism and excretion
- Disorder of biogenic amine metabolism and transport
- Disorder of branched-chain amino acid metabolism
- Disorder of carbohydrate metabolism
