Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Renal cyst	HP_0000107	[A fluid filled sac in the kidney.]
microcephaly-albinism-digital anomalies syndrome	MONDO_0008750	[Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.]
alpha-L-iduronidase measurement	EFO_0020139	[The determination of the amount of alpha-L-iduronidase in a sample]
BCL-2-related protein A1 measurement	EFO_0020178	[The determination of the amount of BCL-2-related protein A1 in a sample]
bdnf/nt-3 growth factors receptor measurement	EFO_0020179	[The determination of the amount of bdnf/nt-3 growth factors receptor in a sample]
baculoviral IAP repeat-containing protein 5 measurement	EFO_0020174	[The determination of the amount of baculoviral IAP repeat-containing protein 5 in a sample]
baculoviral IAP repeat-containing protein 7 isoform beta measurement	EFO_0020175	[The determination of the amount of baculoviral IAP repeat-containing protein 7 isoform beta in a sample]
Renal juxtaglomerular cell hypertrophy/hyperplasia	HP_0000111	[Increased number and size of the juxtaglomerular cells.]
Abnormal renal cortex morphology	HP_0011035	[An abnormality of the cortex of the kidney.]
basigin measurement	EFO_0020176	[The determination of the amount of basigin in a sample]
Nephropathy	HP_0000112	[A nonspecific term referring to disease or damage of the kidneys.]
Abnormal renal physiology	HP_0012211	[An abnormal functionality of the kidney.]
BCL-2-like protein 1 measurement	EFO_0020177	[The determination of the amount of BCL-2-like protein 1 in a sample]
azurocidin measurement	EFO_0020170	[The determination of the amount of azurocidin in a sample]
B-cell receptor CD22 measurement	EFO_0020171	[The determination of the amount of B-cell receptor CD22 in a sample]
bactericidal permeability-increasing protein measurement	EFO_0020172	[The determination of the amount of bactericidal permeability-increasing protein in a sample]
baculoviral IAP repeat-containing protein 3 measurement	EFO_0020173	[The determination of the amount of baculoviral IAP repeat-containing protein 3 in a sample]
prurigo	MONDO_0021739	[A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed)]
obsolete_Alagille syndrome due to a NOTCH2 point mutation	Orphanet_261629
neuronal ceroid lipofuscinosis 2	MONDO_0008769	[A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.]