Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_Camurati-Engelmann disease	Orphanet_1328	[An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone., Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.]
obsolete_camptodactyly syndrome, Guadalajara type 2	Orphanet_1326
obsolete_camptodactyly syndrome, Guadalajara type 1	Orphanet_1327
idiopathic type 1 diabetes	EFO_0009757	[An unusual form of phenotypic type 1 diabetes with almost complete insulin deficiency, a strong hereditary component, and no evidence of autoimmunity.]
Camptodactyly - taurinuria	Orphanet_1325	[Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers (see this term) with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in I7 affected people from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.]
fulminant type 1 diabetes	EFO_0009758	[Subtype of idiopathic type 1 diabetes in which the process of β-cell destruction and the progression of hyperglycemia and ketoacidosis are extremely rapid.]
Chronic Obstructive Asthma	EFO_0009759	[Chronic airway obstruction caused by asthma.]
UV-C light regimen	EO_0007129	[The treatment using UV-C light either exclusively or as part of a supplemental electromagnetic radiation in the wavelength range of 280-10nm]
immortal cell line cell	CLO_0000019	[A cell line cell that is expected to be capable of an unlimited number of divisions, and is thus able to support indefinite propagation in vitro as part of an immortal cell line.]
cell type	EFO_0000324	[A cell type is a distinct morphological or functional form of cell. Examples are epithelial, glial etc.]
HER2 negative breast carcinoma	EFO_0009780	[A biologic subset of breast carcinoma defined by absence of HER2.]
Podospora anserina	NCBITaxon_5145
progesterone-receptor negative breast cancer	EFO_0009781
CCL25 measurement	EFO_0010768	[Quantification of the amount of CCL25 protein in a sample]
CCL28 measurement	EFO_0010769	[Quantification of the amount of CCL28 protein in a sample]
obsolete_familial adenomatous polyposis due to 5q22.2 microdeletion	Orphanet_261584
CCL20 measurement	EFO_0010766	[Quantification of the amount of CCL20 protein in a sample]
Neurospora crassa	NCBITaxon_5141
Familial prostate cancer	Orphanet_1331	[Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma.]
familial prostate carcinoma	MONDO_0023122	[Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma.]