Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
nail discoloration	SYMP_0000444
faint	SYMP_0000445	[Faint is a alteration of consciousness characterized by a loss of consciousness because of a temporary decrease in the blood supply to the brain.]
knee pain	SYMP_0000442
shoulder pain	SYMP_0000443
hair loss	SYMP_0000440
elbow pain	SYMP_0000441
juvenile glaucoma	DOID_1068	[A primary open angle glaucoma early age of onset, rapidly progressive with more severely elevated and fluctuating intraocular pressures.]
primary open angle glaucoma	DOID_1070	[An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.]
open-angle glaucoma	DOID_1067	[A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.]
glaucoma	DOID_1686	[An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.]
residual stage of open angle glaucoma	DOID_1066
Craniata <chordates>	NCBITaxon_89593
cystinosis	DOID_1064	[A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17.]
Fanconi syndrome	DOID_1062	[A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.]
obsolete renal aminoaciduria	DOID_1061
Hartnup disease	DOID_1060	[An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum.]
Aminoaciduria	HP_0003355	[An increased concentration of an amino acid in the urine.]
karyomegalic interstitial nephritis	DOID_0060911	[An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3.]
glandular cystitis	DOID_2392
chronic cystitis	DOID_1680