Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
superior cervical ganglion	UBERON_0001989	[Trunk ganglion which is bilaterally paired and located at the anterior end of the sympathetic ganglion chain.]
obsolete_spinocerebellar ataxia type 26	Orphanet_101112
obsolete_spinocerebellar ataxia type 20	Orphanet_101110
obsolete_spinocerebellar ataxia type 25	Orphanet_101111
epicanthal fold	MONDO_0020164
dead	PATO_0001422	[Irreversible cessation of all bodily functions, manifested by absence of spontaneous breathing and total loss of cardiovascular and cerebral functions.]
Digenome-seq	EFO_0008709	[In vitro Cas9-digested whole-genome sequencing to profile genome-wide Cas9 off-target effects (Digenome-seq)]
obsolete_glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form	Orphanet_308655
hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome	MONDO_0019195	[Hereditary inclusion body myopathy type 3 is characterised by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive.]
secretory apparatus of the lacrimal system anomaly	MONDO_0020193
folinic acid-responsive seizures	MONDO_0019197	[Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid.]
metabolic disease involving other neurotransmitter deficiency	MONDO_0019253
Digital RNA	EFO_0008710	[Digital RNA: unique molecular barcodes are added after cDNA synthesis]
DIP-seq	EFO_0008711	[DNA immunoprecipitation followed by high throughput sequencing (DIP-seq))]
juvenile polyposis of infancy	MONDO_0019190	[Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life.]
juvenile polyposis syndrome	MONDO_0017380	[Juvenile gastrointestinal polyposis (JIP) is a rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract.]
acquired generalized lipodystrophy	MONDO_0019193	[Acquired generalized lipodystrophy belongs to a group of lipodystrophic syndromes characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles).]
AKT2-related familial partial lipodystrophy	MONDO_0019192
obsolete_DNase-Seq	EFO_0008716
obsolete_DNaseI-Seq	EFO_0008717