Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
congested sclera	SYMP_0000850	[Congested sclera is a hyperemia characterized as the congestion of the vessels of the outer layer of the eye containing collagen and elastic fibers.]
obsolete adult brain meningioma	DOID_7568
mitochondrial pyruvate carrier deficiency	DOID_0080363	[A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27.]
nephrotic syndrome type 2	DOID_0080379	[A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31.]
obsolete pulmonary valve syphilitic endocarditis	DOID_10494
breathing problems	SYMP_0000868	[Breathing problems is a respiratory abnormality characterized by a shortness of breath, a hard or uncomfortable intake of air, or the feeling that you're not getting enough air.]
nasal congestion	SYMP_0000869	[Nasal congestion is a congestion characterized by a blockage of the nasal passages usually due to membranes lining the nose becoming swollen from inflamed blood vessels.]
cervical edema	SYMP_0000866	[Cervical edema is a neck symptom characterized by an abnormal excess accumulation of serous fluid in the soft tissue of the cervical area.]
gastroesophageal cancer	DOID_0080374	[A gastrointestinal system cancer that is located_in the proximal esophagus and the distal stomach.]
trichorhinophalangeal syndrome type III	DOID_0080376	[A syndrome that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23.]
lesions in oropharynx	SYMP_0000864
peroxisomal biogenesis disorder	DOID_0080377	[A peroxisomal biogenesis disorder that has_material_basis_in defects in PEX genes.]
lesions in mouth	SYMP_0000865
obsolete Zellweger spectrum disorder	DOID_0080378
orbital granuloma	DOID_10499
chronic orbital inflammation	DOID_1397
Francisellaceae	NCBITaxon_34064
Thiotrichales	NCBITaxon_72273
malignant cystic nephroma	DOID_7571
kidney cortex disease	DOID_0080616	[A kidney disease that is located_in the kidney cortex.]