Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
lymphoid tissue	UBERON_0001744	[Portion of connective tissue with various types of white blood cells enmeshed in it, most numerous being the lymphocytes[WP].]
obsolete_distal monosomy 9p	Orphanet_1642
calcium/calmodulin-dependent protein kinase type II subunit alpha measurement	EFO_0020218	[The determination of the amount of calcium/calmodulin-dependent protein kinase type II subunit alpha in a sample]
obsolete_fumaric aciduria	Orphanet_24
cGMP-inhibited 3',5'-cyclic phosphodiesterase A measurement	EFO_0020255	[The determination of the amount of cGMP-inhibited 3',5'-cyclic phosphodiesterase A in a sample]
obsolete_glutaryl-CoA dehydrogenase deficiency	Orphanet_25
chloride intracellular channel protein 1 measurement	EFO_0020256	[The determination of the amount of chloride intracellular channel protein 1 in a sample]
Organic aciduria	Orphanet_289899
chordin-like protein 1 measurement	EFO_0020257	[The determination of the amount of chordin-like protein 1 in a sample]
obsolete_Vitamin B12-unresponsive methylmalonic acidemia	Orphanet_27	[ (see these terms).]
chromobox protein homolog 5 measurement	EFO_0020258	[The determination of the amount of chromobox protein homolog 5 in a sample]
obsolete_vitamin B12-responsive methylmalonic acidemia	Orphanet_28
cell adhesion molecule 1 measurement	EFO_0020251	[The determination of the amount of cell adhesion molecule 1 in a sample]
Adult-onset dystonia-parkinsonism	Orphanet_199351	[Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.]
PLA2G6-associated neurodegeneration	MONDO_0017998	[Any neurodegeneration with brain iron accumulation in which the cause of the disease is a mutation in the PLA2G6 gene.]
obsolete_mevalonic aciduria	Orphanet_29
cell adhesion molecule 3 measurement	EFO_0020252	[The determination of the amount of cell adhesion molecule 3 in a sample]
Falco chicquera	NCBITaxon_495941
Long face	HP_0000276	[Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).]
cell surface glycoprotein CD200 receptor 1 measurement	EFO_0020253	[The determination of the amount of cell surface glycoprotein CD200 receptor 1 in a sample]