Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Glycerol kinase deficiency	Orphanet_308993
pallium	UBERON_0000203	[Dorsal part (roof region) of the telencephalon[GO].]
follistatin measurement	EFO_0010614	[quantification of the amount of follistatin in a sample]
galanin peptides measurement	EFO_0010615	[quantification of the amount of galanin peptides in a sample]
MGAT2-CDG	MONDO_0008908	[MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).]
congenital disorder of glycosylation type II	EFO_0005546	[A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain.]
disorder of protein N-glycosylation	MONDO_0017740	[A disease that has its basis in the disruption of protein N-linked glycosylation.]
kit ligand measurement	EFO_0010612	[quantification of the amount of kit ligand in a sample]
obsolete_lymphedema	Orphanet_79383
PMM2-CDG	MONDO_0008907	[PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.]
congenital disorder of glycosylation type I	EFO_0005545	[A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.]
tumor necrosis factor ligand superfamily member 14 measurement	EFO_0010613	[quantification of the amount of tumor necrosis factor receptor superfamily member 14 in a sample]
heart defects-limb shortening syndrome	MONDO_0008917	[Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome.]
genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	MONDO_0043008	[An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome.]
congenital heart disease	EFO_0005207	[any form of heart disease that is present at birth, including defects to the structure and function of the heart and great vessels, A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale.]
amputation	EFO_0009632	[The surgical removal of all or part of a limb or other appendage. [ NCI ]]
stromelysin‐2 measurement	EFO_0010621	[quantification of stromelysin 2 in a sample]
tissue donor	EFO_0009633	[Someone who gives tissue to be used in another person. [ NCI ]]
role	BFO_0000023	[A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role). For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease.]
kallikrein‐6 measurement	EFO_0010622	[quantification of kallikrein 6 in a sample]