Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
patella aplasia/hypoplasia, unilateral	MONDO_0017472
patella aplasia/hypoplasia	MONDO_0008205	[Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.]
patella aplasia/hypoplasia, bilateral	MONDO_0017473
femtomolar	UO_0000073	[A unit of molarity which is equal to 10^[-15] M.]
radial hemimelia, unilateral	MONDO_0017486
radial hemimelia, bilateral	MONDO_0017487
ulnar hemimelia, bilateral	MONDO_0017488
obsolete_Brain calcification, Rajab type	Orphanet_178506
ulnar hemimelia, unilateral	MONDO_0017489
tartrate(2-)	CHEBI_15193
humeral agenesis/hypoplasia, unilateral	MONDO_0017482
2-linoleoyl-sn-glycero-3-phosphocholine	CHEBI_76084	[A lysophosphatidylcholine 18:2 in which the acyl group is specified as linoleoyl and is located at position 2.]
humeral agenesis/hypoplasia, bilateral	MONDO_0017483
femoral agenesis/hypoplasia, unilateral	MONDO_0017484
femoral agenesis/hypoplasia, bilateral	MONDO_0017485
square meter	UO_0000080	[A square meter is an area unit which is equal to an area enclosed by a square with sides each 1 meter long., An area unit which is equal to an area enclosed by a square with sides each 1 meter long.]
amelia of lower limb, unilateral	MONDO_0017480
amelia of lower limb, bilateral	MONDO_0017481
obsolete_autosomal recessive optic atrophy, OPA7 type	Orphanet_227976
obsolete_Perry syndrome	Orphanet_178509	[Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.]