Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
fibroblast growth factor 8 isoform b measurement	EFO_0020386	[The determination of the amount of fibroblast growth factor 8 isoform b in a sample]
obsolete_partial deletion of the short arm of chromosome 3	Orphanet_261875
chromosome 7 disorder	MONDO_0700014	[Chromosomal disorder in which chromosome 7 is affected.]
fibroblast growth factor 18 measurement	EFO_0020380	[The determination of the amount of fibroblast growth factor 18 in a sample]
chromosome 10 disorder	MONDO_0700017	[Chromosomal disorder in which chromosome 10 is affected.]
fibroblast growth factor 20 measurement	EFO_0020381	[The determination of the amount of fibroblast growth factor 20 in a sample]
chromosome 9 disorder	MONDO_0700016	[Chromosomal disorder in which chromosome 9 is affected.]
fibroblast growth factor 4 measurement	EFO_0020382	[The determination of the amount of fibroblast growth factor 4 in a sample]
chromosome 4 disorder	MONDO_0700011	[Chromosomal disorder in which chromosome 4 is affected.]
chromosome 3 disorder	MONDO_0700010	[Chromosomal disorder in which chromosome 3 is affected.]
chromosome 6 disorder	MONDO_0700013	[Chromosomal disorder in which chromosome 6 is affected.]
chromosome 5 disorder	MONDO_0700012	[Chromosomal disorder in which chromosome 5 is affected.]
syndactyly-polydactyly-ear lobe syndrome	MONDO_0008517
syndactyly type 5	MONDO_0008516	[Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.]
non-syndromic syndactyly	MONDO_0019530	[A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly.]
syndactyly type 4	MONDO_0008515	[A very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5).]
syndactyly type 3	MONDO_0008514	[Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.]
synpolydactyly type 1	MONDO_0008513	[Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene.]
non-syndromic synpolydactyly	MONDO_0000722	[A synpolydactyly that is not part of a larger syndrome.]
obsolete_mosaic trisomy 20	Orphanet_1724