Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Clonorchis	NCBITaxon_79922
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	DOID_0110001	[A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25.]
Pitt-Hopkins-like syndrome 2	DOID_0111332	[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 NRXN1 on chromosome 2p16.3.]
Opisthorchiidae	NCBITaxon_6196
3-methylglutaconic aciduria type 1	DOID_0110002	[A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22.]
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome	DOID_0111333	[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.]
Actinomyces viscosus	NCBITaxon_1656
Actinomyces naeslundii	NCBITaxon_1655
achromatopsia 7	DOID_0110009	[An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23.]
parathyroid gland	UBERON_0001132
Actinomyces israelii	NCBITaxon_1659
Bartholin's gland cancer	DOID_60003	[A vulva cancer that is located in Bartholin's gland.]
benign vascular tumor	DOID_60006
cod food product	FOODON_00001750
idiopathic generalized epilepsy 5	DOID_0111320	[An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10p11.22.]
juvenile myoclonic epilepsy 4	DOID_0111327	[A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 5q12-q14.]
juvenile myoclonic epilepsy 9	DOID_0111328	[A juvenile myoclonic epilepsy that has_material_basis_in heterozygous variation in a region on chromosome 2q33-q36.]
juvenile myoclonic epilepsy 10	DOID_0111325	[A juvenile myoclonic epilepsy that has_material_basis_in heterozygous mutation in ICK on chromosome 6p12.1.]
juvenile myoclonic epilepsy 3	DOID_0111326	[A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 6p21.]
idiopathic generalized epilepsy 9	DOID_0111323	[An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CACNB4 on chromosome 2q23.3.]