Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
juvenile rheumatoid arthritis	DOID_676	[A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.]
amphetamine abuse	DOID_670	[A substance abuse that involves the recurring use of amphetamines despite negative consequences.]
iritis	DOID_1406
Rothmund-Thomson syndrome	DOID_2732
skin atrophy	DOID_2733
residual stage angle-closure glaucoma	DOID_1404
keratosis follicularis	DOID_2734
glycogen storage disease V	DOID_2746
glycogen metabolism disorder	DOID_0050728	[A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen.]
bacteriuria	DOID_1412	[A urinary system disease which consists of the presence of bacteria in urine.]
glycogen storage disease III	DOID_2748
glycogen storage disease I	DOID_2749	[A glycogen storage disease that has_material_basis_in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly.]
type 1 diabetes mellitus 18	DOID_0110755	[A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 5q31.1-q33.1.]
type 1 diabetes mellitus 19	DOID_0110756	[A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q24.3.]
type 1 diabetes mellitus 15	DOID_0110753	[A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q21.]
validated	SO_0000789	[An attribute to describe a feature that has been proven.]
type 1 diabetes mellitus 17	DOID_0110754	[A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q25.]
type 1 diabetes mellitus 12	DOID_0110751	[A type 1 diabetes mellitus that has_material_basis_in mutation of the CTLA4 gene on chromosome 2q33.2.]
type 1 diabetes mellitus 13	DOID_0110752	[A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 2q34.]
cloned_region	SO_0000785