Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete bundle branch block	MONDO_0020803	[OBSOLETE. A defect of the bundle branches or fascicles in the electrical conduction system of the heart.]
congenital mitral valve insufficiency and/or stenosis	MONDO_0019817
succinate(2-)	CHEBI_30031	[A dicarboxylic acid dianion resulting from the removal of a proton from both of the carboxy groups of succinic acid.]
4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone	CHEBI_32692	[A nitrosamine that has formula C10H13N3O2.]
2,4-dinitrophenol	CHEBI_42017	[Any of the six isomers consisting of phenol where two hydrogen atoms are substituted by nitro groups., A dinitrophenol having the nitro groups at the 2- and 4-positions., The sixth of the seven cervical vertebrae.]
optic disc	UBERON_0001783	[The optic disc or optic nerve head is the location where ganglion cell axons exit the eye to form the optic nerve. There are no light sensitive rods or cones to respond to a light stimulus at this point. This causes a break in the visual field called 'the blind spot' or the 'physiological blind spot'. The optic nerve head in a normal human eye carries from 1 to 1.2 million neurons from the eye towards the brain. [WP,unvetted].]
Jacobsen syndrome	MONDO_0007838	[A multiple congenital anomaly/intellectual disability contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.]
Aase-Smith syndrome	MONDO_0007839	[Aase-Smith syndrome type I is a very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.]
obsolete_syndactyly type 5	Orphanet_93406
IVIC syndrome	MONDO_0007836	[IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.]
obsolete_syndactyly type 4	Orphanet_93405
(-)-cotinine	CHEBI_68641	[An N-alkylpyrrolidine that consists of N-methylpyrrolidinone bearing a pyridin-3-yl substituent at position C-5 (the 5S-enantiomer). It is an alkaloid commonly found in Nicotiana tabacum.]
Johnson neuroectodermal syndrome	MONDO_0007837	[Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.]
obsolete_syndactyly type 3	Orphanet_93404
substantia propria of cornea	UBERON_0001777	[The lamellated connective tissue of the cornea between the Bowman and Descemet membranes.]
Syndactyly type 2	Orphanet_93403
obsolete_generalized galactose epimerase deficiency	Orphanet_308487
obsolete_syndactyly type 1	Orphanet_93402
congenital sialidosis type II	Orphanet_93400
obsolete_Brachydactyly-syndactyly, Zhao type	Orphanet_93409	[Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.]