Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
HCC38	EFO_0001180
chronic dacryoadenitis	MONDO_0004800	[Chronic form of dacryoadenitis.]
dacryoadenitis	MONDO_0004804	[Inflammation and enlargement of the lacrimal gland.]
HCC70	EFO_0001181
HEK293	EFO_0001182
HEK-293H	EFO_0001183
HEK293T	EFO_0001184
HeLa	EFO_0001185	[A cell line derived from epithelial cells of human cervical carcinoma.]
cervical carcinoma cell line	EFO_0005218	[A cell line which is used as a model for cervical carcinoma.]
HepaRG	EFO_0001186
HepG2	EFO_0001187
HMEC	EFO_0001188
obsolete_craniorachischisis	Orphanet_63260
HMEC S1	EFO_0001189
HERNS syndrome	Orphanet_63261	[Hereditary endotheliopathy with retinopathy and stroke (HERNS) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by strokes, vision loss, pseudotumours, seizures, motor and sensory deficits, headaches and occasionally renal disease.]
Retinal vasculopathy and cerebral leukodystrophy	Orphanet_247691	[Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.]
obsolete_familial isolated restrictive cardiomyopathy	Orphanet_75249
Absent muscle fiber dysferlin	HP_0030114	[Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy.]
acute dacryoadenitis	MONDO_0004812	[Acute form of dacryoadenitis.]
Premature coronary artery atherosclerosis	HP_0005181	[Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45.]