Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
obsolete cutaneous listeriosis	DOID_0050065
obsolete Listeria septicaemia	DOID_0050067
pomaceous fruit food product	FOODON_00001158
obsolete Listeria meningoencephalitis	DOID_0050066
obsolete Yersinia pestis infectious disease	DOID_0050069
obsolete pestis minor	DOID_0050068	[A bubonic plague that results_in a benign form of bubonic plague, has_symptom fever, has_symptom lymphadenitis, has_symptom headache and has_symptom prostration.]
restrictive cardiomyopathy 2	DOID_0111426	[A restrictive cardiomyopathy that has_material_basis_in variation in a region on chromosome 10q23.3.]
restrictive cardiomyopathy 3	DOID_0111427	[A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in TNNT2 on chromosome 1q32.1.]
branchiootorenal syndrome 2	DOID_0111424	[A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in SIX5 on chromosome 19q13.32.]
restrictive cardiomyopathy 1	DOID_0111425	[A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in TNNI3 on chromosome 19q13.42.]
familial lipase maturation factor 1 deficiency	DOID_0111422	[A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in LMF1 on chromosome 16p13.3.]
branchiootorenal syndrome 1	DOID_0111423	[A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in EYA1 on chromosome 8q13.3.]
familial GPIHBP1 deficiency	DOID_0111420	[A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in GPIHBP1 on chromosome 8q24.3.]
erysipeloid	DOID_0050061	[A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin.]
familial apolipoprotein A5 deficiency	DOID_0111421	[A familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased LDL and HDL levels after fasting that has_material_basis_in heterozygous mutation in APOA5 on chromosome 11q23.3.]
essential tremor 1	DOID_0111428	[An essential tremor that has_material_basis_in heterozygous mutation in DRD3 on chromosome 3q13.31.]
essential tremor 2	DOID_0111429	[An essential tremor that has_material_basis_in heterozygous mutation in a region on chromosome 2p25-p22.]
Neopterygii	NCBITaxon_41665
progressive myoclonus epilepsy 8	DOID_0111451	[A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11.]
Axenfeld-Rieger syndrome type 1	DOID_0110120	[An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25.]