Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_Asian Indian	EFO_0003153	[In North America the term is used to distinguish a person having origins in the original peoples of the Indian sub-continent from Native Americans.]
obsolete_Caucasian	EFO_0003156	[Denotes person with European, Middle Eastern, or North African ancestral origin who identifies, or is identified, as White.]
obsolete_British	EFO_0003155
acute diarrhea	MONDO_0000257	[Acute form of diarrhea.]
diarrheal disease	MONDO_0001673	[The condition of having at least three loose or liquid bowel movements each day.]
obsolete_Eastern Indian	EFO_0003158
obsolete_Chinese	EFO_0003157	[Denotes the inhabitants of China, a person from there, or their descendants elsewhere.]
Tibial pseudarthrosis	HP_0009736	[Pseudarthrosis, or "false joint" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life.]
Lisch nodules	HP_0009737	[The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris..]
obsolete_European-American	EFO_0003159
obsolete_atypical hemolytic-uremic syndrome with thrombomodulin anomaly	Orphanet_217023
inflammatory diarrhea	MONDO_0000252	[An diarrhea (disease) involving a pathogenic inflammatory response in the intestinal mucosa.]
Rorippa amphibia	NCBITaxon_65951
Rorippa sylvestris	NCBITaxon_65952
spinocerebellar ataxia type 26	MONDO_0012246	[Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.]
spinocerebellar ataxia type 27	MONDO_0012247	[Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.]
autosomal recessive limb-girdle muscular dystrophy type 2K	MONDO_0012248	[Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.]
Periventricular heterotopia	HP_0007165	[A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass.]
thrombin	EFO_0003183	[Thrombin is a "trypsin-like" serine protease protein that in humans is encoded by the F2 gene.[2][3] Prothrombin (coagulation factor II) is proteolytically cleaved to form thrombin in the coagulation cascade, which ultimately results in the stemming of blood loss. Thrombin in turn acts as a serine protease that converts soluble fibrinogen into insoluble strands of fibrin, as well as catalyzing many other coagulation-related reactions.]
congenital anomaly of cardiovascular system	MONDO_0024239	[A disease that has its basis in the disruption of cardiovascular system development.]