All terms in DOID

Label Id Description
intergenic_1kb_variant SO_0002074
intergenic_variant SO_0001628
transcript_variant SO_0001576
incomplete_transcript_3UTR_variant SO_0002076
dystonia 33 DOID_0060940 [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.]
incomplete_transcript_5UTR_variant SO_0002077
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