All terms in DOID

Label Id Description
interstitial lung disease 1 DOID_0060941 [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.]
incomplete_transcript_intronic_variant SO_0002078
Ullrich congenital muscular dystrophy 1B DOID_0060942 [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.]
Ullrich congenital muscular dystrophy 1C DOID_0060943 [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.]
episodic kinesigenic dyskinesia 3 DOID_0060944 [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.]
amelogenesis imperfecta type 1K DOID_0060945 [An amelogenesis imperfecta characterized by hypoplastic enamel of all teeth that has_material_basis_in heterozygous mutation in the SP6 gene on chromosome 17q21.]
amelogenesis imperfecta DOID_2187 [A dental enamel hypoplasia characterized by abnormal enamel formation.]
dyspepsia SYMP_0000422 [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.]
pyrosis SYMP_0000423 [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.]
bloating SYMP_0000420 [Bloating is a digestive system symptom involving the accumulation of gas in the digestive tract and resulting in abdominal distension.]
hematochezia SYMP_0000421 [hematochezia is a feces and droppings symptom characterized by the passage of fresh blood per anus, usually in or with stools.]
Abnormal penis morphology HP_0000036
Abnormal male external genitalia morphology HP_0000032
Abnormal joint morphology HP_0001367
Abnormal skeletal morphology HP_0011842
Fanconi anemia complementation group S DOID_0060979 [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.]
Fanconi anemia DOID_13636 [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.]
Epispadias HP_0000039
Displacement of the urethral meatus HP_0100627
earache SYMP_0000437