Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_cervical spina bifida cystica	Orphanet_268762
obsolete_partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome	Orphanet_401959
Episodic ataxia with slurred speech	Orphanet_401953
1-4-dioxane	CHEBI_47032	[Complement component-4 (1744 aa, ~193 kDa) is part of the complement cascade, which mediates the innate immune response to infection. The full length protein is a precursor that can is secreted as a trimeric molecule containing an alpha, beta and gamma chain. When the complement cascade is initiated, the protein is cleaved. This proteolysis releases both the alpha chain, C4 anaphylatoxin, which stimulates inflammation, and a dimer of the beta and gamma chains, which mediates the interaction between the antigen-antibody complex and other complement components., A dioxane that has formula C4H8O2., The determination of the amount of complement C4 present in a sample.]
basic fibroblast growth factor	EFO_0003316
apoplast	GO_0048046	[ The cell membranes and intracellular regions in a plant are connected through plasmodesmata, and plants may be described as having two major compartments: the living symplast and the non-living apoplast. The apoplast is external to the plasma membrane and includes cell walls, intercellular spaces and the lumen of dead structures such as xylem vessels. Water and solutes pass freely through it. ]
anti-CD3	EFO_0003317
obsolete_chronic respiratory distress with surfactant metabolism deficiency	Orphanet_217566
Neonatal acute respiratory distress with surfactant metabolism deficiency	Orphanet_217563
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies	Orphanet_100049	[Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation.]
obsolete_ethylmalonic encephalopathy	Orphanet_51188
obsolete_congenital lipoid adrenal hyperplasia due to STAR deficency	Orphanet_90790
Unilateral ptosis	HP_0007687	[A unilateral form of ptosis.]
obsolete_congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	Orphanet_90791
magnesium	CHEBI_25107
obsolete_partial androgen insensitivity syndrome	Orphanet_90797
obsolete_stem	EFO_0001040	[The main trunk of a plant; specifically: a primary plant axis that develops buds and shoots instead of roots.]
obsolete_classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Orphanet_90794
obsolete_bark	EFO_0001041
obsolete_congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	Orphanet_90793