Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Leber congenital amaurosis 4	DOID_0110332	[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.]
ectodermal dysplasia 10A	DOID_0111663	[A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in EDAR on chromosome 2q13.]
osteogenesis imperfecta type 3	DOID_0110339	[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.]
familial adult myoclonic epilepsy 4	DOID_0111693	[A familial adult myoclonic epilepsy that has_material_basis_in heterozygous mutation in YEATS2 on chromosome 3q27.1.]
familial adult myoclonic epilepsy	DOID_0111689	[An adolescence-adult electroclinical syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities.]
retinitis pigmentosa 58	DOID_0110362	[A retinitis pigmentosa that has_material_basis_in mutation in the ZNF513 gene on chromosome 2p23.]
familial adult myoclonic epilepsy 7	DOID_0111694	[A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in RAPGEF2 on chromosome 4q32.1.]
retinitis pigmentosa 71	DOID_0110363	[A retinitis pigmentosa that has_material_basis_in mutation in the IFT172 gene on chromosome 2p23.]
familial adult myoclonic epilepsy 5	DOID_0111691	[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 CNTN2 on chromosome 1q32.1.]
retinitis pigmentosa 39	DOID_0110360	[A retinitis pigmentosa that has_material_basis_in mutation in the USH2A gene on chromosome 1q41.]
familial adult myoclonic epilepsy 2	DOID_0111692	[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.]
retinitis pigmentosa 75	DOID_0110361	[A retinitis pigmentosa that has_material_basis_in mutation in the AGBL5 gene on chromosome 2p23.]
obsolete secondary syphilitic uveitis	DOID_1487
familial adult myoclonic epilepsy 1	DOID_0111690	[A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in SAMD12 on chromosome 8q24.11-q24.12.]
obsolete secondary syphilitic chorioretinitis	DOID_1486
cystic fibrosis	DOID_1485	[A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.]
Van den Ende-Gupta syndrome	DOID_0111699	[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 SCARF2 on chromosome 22q11.21.]
retinitis pigmentosa 26	DOID_0110368	[A retinitis pigmentosa that has_material_basis_in mutation in the CERKL gene on chromosome 2q31.]
retinitis pigmentosa 47	DOID_0110369	[A retinitis pigmentosa that has_material_basis_in mutation in the SAG gene on chromosome 2q37.]
ceft palate, cardiac defects, and intellectual disabillity	DOID_0111697	[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 MEIS2 on chromosome 15q14.]