Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
maternally-inherited Leigh syndrome	MONDO_0016814	[Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.]
Elevated diastolic blood pressure	HP_0005117	[Abnormal increase in diastolic blood pressure.]
autosomal recessive progressive external ophthalmoplegia	MONDO_0016810	[Autosomal recessive form of progressive external ophthalmoplegia.]
Chorioretinal scar	HP_0007777	[Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye.]
Chorioretinal degeneration	HP_0200065
renal tubulopathy-encephalopathy-liver failure syndrome	MONDO_0016811	[Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in Gracile syndrome and that can be associated with encephalopathy and psychiatric disorders.]
mitochondrial complex III deficiency nuclear type 1	MONDO_0007415	[Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene.]
obsolete_isolated dystonia	Orphanet_156159
HMT3522S1	EFO_0001191
HS578T	EFO_0001192
HT-29	EFO_0001193
IB3-1	EFO_0001194
IMR-32	EFO_0001195	[A cell line derived from vertebrate neuroblastoma.]
IMR-90	EFO_0001196	[Human Fetal Lung Fibroblast cell line]
Kin-S49	EFO_0001197
L3055	EFO_0001198
spinocerebellar ataxia with epilepsy	MONDO_0016809
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	MONDO_0011835	[A syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.]
LY2	EFO_0001199	[A cell line derived from epithelial cells of a breast carcinoma.]
maternally-inherited mitochondrial dystonia	MONDO_0016806	[Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.]