Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
fibroblast growth factor receptor 3 measurement	EFO_0020390	[The determination of the amount of fibroblast growth factor receptor 3 in a sample]
chromosome 20 disorder	MONDO_0700025	[Chromosomal disorder in which chromosome 20 is affected.]
fibroblast growth factor receptor 4 measurement	EFO_0020391	[The determination of the amount of fibroblast growth factor receptor 4 in a sample]
Sacroiliac arthritis	HP_0012317	[Inflammation of the sacroiliac joint, generally accompanied by lower back pain.]
chromosome Y disorder	MONDO_0700028	[Chromosomal disorder in which chromosome Y is affected.]
gonosome anomaly	MONDO_0020058	[Chromosomal disorder in which the chromosomal anomaly involves an gonosome. A gonosome is a chromosome responsible for sex determination. In humans and most animals, the sex chromosomes are designated X and Y.]
Partial deletion of the short arm of chromosome 4	Orphanet_261884
ficolin-3 measurement	EFO_0020392	[The determination of the amount of ficolin-3 in a sample]
focal adhesion kinase 1 measurement	EFO_0020393	[The determination of the amount of focal adhesion kinase 1 in a sample]
chromosome 15 disorder	MONDO_0700022	[Chromosomal disorder in which chromosome 15 is affected.]
N-acetyl-L-threonine	CHEBI_45826	[A N-acetyl-L-amino acid that is the N-acetyl derivative of L-threonine.]
chromosome 14 disorder	MONDO_0700021	[Chromosomal disorder in which chromosome 14 is affected.]
chromosome 19 disorder	MONDO_0700024	[Chromosomal disorder in which chromosome 19 is affected.]
chromosome 16 disorder	MONDO_0700023	[Chromosomal disorder in which chromosome 16 is affected.]
distal symphalangism	MONDO_0008509	[Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet.]
symphalangism	MONDO_0000151
aortic stenosis	EFO_0000266	[A pathological constriction that can occur above (supravalvular stenosis), below (subvalvular stenosis), or at the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA., Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated AS., Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated as AS.]
aortic malformation	MONDO_0020286
obsolete_17p11.2 microduplication syndrome	Orphanet_1713
Sturge-Weber syndrome	MONDO_0008501	[Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.]