Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
hypermethioninemia due to adenosine kinase deficiency	DOID_0111038	[A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has material_basis_in homozygous mutation in the ADK gene on chromosome 10q22.]
CADASIL 1	DOID_0111035	[A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.]
CADASIL	DOID_13945	[A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment.]
CADASIL 2	DOID_0111036	[A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26.]
dermal bone	UBERON_0008907
dermal skeletal element	UBERON_0004756
obsolete lower limb lymph node mast cell malignancy	DOID_13319
cone-rod dystrophy 16	DOID_0111022	[A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22.]
cone-rod dystrophy 17	DOID_0111023	[A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 10q26.]
prostatitis	DOID_14654
cone-rod dystrophy 9	DOID_0111020	[A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM9 gene on chromosome 8p11.]
cone-rod dystrophy 15	DOID_0111021	[A cone-rod dystrophy that has_material_basis_in homozygous mutation in the CDHR1 gene on chromosome 10q23.]
toxic optic neuropathy	DOID_13329
diabetic cataract	DOID_13328	[A cataract that is characterized by loss of lens transparency secondary to hyperglycemia related to diabetes mellitus.]
hemochromatosis type 4	DOID_0111028	[A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32.]
anatomical narrow angle borderline glaucoma	DOID_13327
hemochromatosis type 1	DOID_0111029	[A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22.]
chronic follicular conjunctivitis	DOID_13326
cone-rod dystrophy 20	DOID_0111026	[A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21.]
hemochromatosis type 2A	DOID_0111027	[A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21.]