Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
cardiovascular organ benign neoplasm	MONDO_0000629	[A benign neoplasm that involves the cardiovascular system.]
sweat gland neoplasm	EFO_1001204	[A benign or malignant neoplasm arising from the sweat glands.]
obsolete_X-linked pure spastic paraplegia	Orphanet_320332
benign neoplasm of anus	MONDO_0021469	[A benign neoplasm that involves the anus.]
benign neoplasm of rectum	MONDO_0021462	[A benign neoplasm that involves the rectum.]
obsolete_pure or complex hereditary spastic paraplegia	Orphanet_320335
GM17223	CLO_0014367	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
GM17224	CLO_0014369	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50]
benign neoplasm of ear	MONDO_0021474	[A benign neoplasm that involves the ear.]
ear neoplasm	MONDO_0021233	[A neoplasm (disease) that involves the ear.]
benign neoplasm of tongue	MONDO_0021476	[A benign neoplasm that involves the tongue.]
tongue neoplasm	EFO_0003871	[A neoplasm (disease) that involves the tongue., Tumors or cancer of the MOUTH., Tumors or cancer of the TONGUE.]
Nectria rigidiuscula	NCBITaxon_57161
GM17229	CLO_0014362	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50]
benign neoplasm of pancreas	MONDO_0021470	[A benign neoplasm that involves the pancreas.]
benign digestive system neoplasm	MONDO_0000385	[A non-metastasizing neoplasm arising from any part of the digestive system.]
GM17222	CLO_0014366	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
spinocerebellar ataxia 47	MONDO_0033482
autosomal dominant cerebellar ataxia	MONDO_0020380	[A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.]
obsolete_autosomal recessive myogenic arthrogryposis multiplex congenita	Orphanet_319332