Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
galactokinase deficiency	DOID_14695	[A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.]
galactosemia	DOID_9870	[A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.]
congenital bile acid synthesis defect 4	DOID_0111068	[A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.]
Stiff-Person syndrome	DOID_13366	[A movement disease that is of unknown etiology characterized by progressive rigidity.]
Rigidity	HP_0002063	[Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.]
congenital bile acid synthesis defect 2	DOID_0111069	[A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33.]
congenital bile acid synthesis defect 3	DOID_0111070	[A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12.]
susceptibility to leprosy 4	OMIM_610988
obsolete congenital aortic insufficiency	DOID_13376
maturity-onset diabetes of the young type 1	DOID_0111099	[A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF4A gene on chromosome 20.]
temporal arteritis	DOID_13375
central nervous system vasculitis	DOID_525	[A vasculitis that is characterized by inflammation of blood vessel walls in the brain or spine.]
fibrodysplasia ossificans progressiva	DOID_13374	[A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene.]
kernicterus due to isoimmunization	DOID_12043
Fanconi anemia complementation group J	DOID_0111097	[A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22.]
Fanconi anemia complementation group B	DOID_0111098	[A Fanconi anemia that has_material_basis_in mutation in the FANCB gene on chromosome Xp22.]
alpha 1-antitrypsin deficiency	DOID_13372	[A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.]
Fanconi anemia complementation group A	DOID_0111095	[A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24.]
scrub typhus	DOID_13371	[A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted by trombiculid mites (Leptotrombidium deliense). The infection has symptom fever, has symptom headache, has symptom muscle pain, has symptom cough, has symptom maculopapular rash, has symptom eschar, has symptom splenomegaly and has symptom lymphadenopathy.]
typhus	DOID_11256	[A primary bacterial infectious disease that refers to a group of diseases, located in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted by lice, transmitted by fleas, and transmitted by mites.]