Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
(+)-abscisic acid	CHEBI_2365	[An abscisic acid that has formula C15H20O4., The naturally occurring (1'S)-(+) enantiomer of abscisic acid. It is an important sesquiterpenoid plant hormone which acts as a regulator of plant responses to environmental stresses such as drought and cold.]
congenital absence/hypoplasia of fingers excluding thumb, unilateral	MONDO_0007062	[Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia).]
congenital absence/hypoplasia of fingers excluding thumb	MONDO_0017448
abacavir	CHEBI_2360
Cerebral arteriovenous malformation	Orphanet_46724
cochlea	UBERON_0001844	[The spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound. Its core component is the Organ of Corti, the sensory organ of hearing, which is distributed along the partition separating fluid chambers in the coiled tapered tube of the cochlea. [WP,modified].]
obsolete_hereditary spastic paraplegia	Orphanet_685
obsolete_paramyotonia congenita of Von Eulenburg	Orphanet_684
Romano-Ward syndrome	Orphanet_101016
obsolete_progressive supranuclear palsy	Orphanet_683
obsolete_hyperkalemic periodic paralysis	Orphanet_682
obsolete_hypokalemic periodic paralysis	Orphanet_681
Autosomal dominant spastic paraplegia type 31	Orphanet_101011
adenylosuccinate lyase deficiency	MONDO_0007068	[Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.]
Autosomal recessive spastic paraplegia type 30	Orphanet_101010
diaphragmatic or abdominal wall malformation	MONDO_0020021
adenosine triphosphatase deficiency, anemia due to	MONDO_0007066
visceral malformation of the liver, biliary tract, pancreas or spleen	MONDO_0020020
ADULT syndrome	MONDO_0007072	[ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.]
acarbose	CHEBI_2376