Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
withdrawal disorder	DOID_0060001	[A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol.]
radioulnar synostosis	DOID_9827
Ruijs-Aalfs syndrome	DOID_0111264	[A syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that has_material_basis_in homozygous or compound heterozygous mutation in SPRTN on 1q42.2.]
obsolete glaucoma associated with pupillary block	DOID_13562
Boucher-Neuhauser syndrome	DOID_0111265	[A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2.]
optic disk drusen	DOID_13561
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	DOID_0111262	[A brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in MED17 on 11q21.]
subserous uterine fibroid	DOID_13560	[An uterine fibroid that is located adjacent to the outside of the uterus.]
combined malonic and methylmalonic acidemia	DOID_0111263	[An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3.]
phosphoribosylpyrophosphate synthetase superactivity	DOID_0111260	[An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset.]
fumarase deficiency	DOID_0111261	[An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43.]
anal margin squamous cell carcinoma	DOID_12239
bile reflux	DOID_12237
primary biliary cirrhosis	DOID_12236	[A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.]
autosomal recessive hyaline body myopathy	DOID_0111268	[A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2.]
hyaline body myopathy	DOID_0111267	[A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2.]
tibial collateral ligament bursitis	DOID_13566
autosomal dominant hyaline body myopathy	DOID_0111269	[A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2.]
neuroaspergillosis	DOID_13565	[An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion.]
cascade stomach	DOID_12234