Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Behr syndrome	DOID_0111580	[A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in OPA1 on chromosome 3q29.]
adenoiditis	DOID_0050145	[An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has symptom pain, has symptom redness, has symptom swelling, and has symptom difficulty swallowing.]
COACH syndrome	DOID_0111589	[A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L).]
cataract 10 multiple types	DOID_0110258	[A cataract that has_material_basis_in heterozygous mutation in the CRYBA1 gene on chromosome 17q11.]
cataract 43	DOID_0110259	[A cataract that has_material_basis_in heterozygous mutation in the UNC45B gene on chromosome 17q12.]
Gordon Holmes syndrome	DOID_0111587	[An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has_material_basis_in homozygous or compound heterozygous mutation in RNF216 on chromosome 7p22.1.]
cataract 21 multiple types	DOID_0110256	[A cataract that has_material_basis_in heterozygous mutation in the MAF gene on chromosome 16q23.]
Greenberg dysplasia	DOID_0111588	[An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers that has_material_basis_in homozygous or compound heterozygous mutation in LBR on chromosome 1q42.12.]
cataract 24	DOID_0110257	[A cataract that has_material_basis_in variation in the region 17p13.]
carnitine-acylcarnitine translocase deficiency	DOID_0111585	[A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A20 on chromosome 3p21.31.]
cataract 25	DOID_0110254	[A cataract that has_material_basis_in variation in the region 15q21-q22.]
cataract 5 multiple types	DOID_0110255	[A cataract that has_material_basis_in heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (HSF4) on chromosome 16q22.]
Martsolf syndrome	DOID_0111586	[A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in RAB3GAP2 on chromosome 1q41.]
laryngotracheitis	DOID_0050148	[An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe.]
obsolete inkoo encephalitis	DOID_0050173	[A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Inkoo virus, which is transmitted_by Ochlerotatus communis mosquito. The infection has_symptom stiff neck, has_symptom lethargy, has_symptom headache, has_symptom fever, and has_symptom seizures.]
autosomal recessive limb-girdle muscular dystrophy type 2Q	DOID_0110285	[An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene.]
obsolete trivittatus encephalitis	DOID_0050172	[A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Trivittatus virus, which is transmitted_by Ochlerotatus trivittatus mosquito. The infection has_symptom headache, has_symptom fever, has_symptom disorientation, has_symptom tremors, has_symptom convulsions, has_symptom paralysis, and has_symptom coma.]
obsolete autosomal recessive limb-girdle muscular dystrophy type 2R	DOID_0110286
tick-borne encephalitis	DOID_0050175	[A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis.]
autosomal recessive limb-girdle muscular dystrophy type 2J	DOID_0110283	[An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN).]