Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_Wolcott-Rallison syndrome	Orphanet_1667	[Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.]
casein kinase II 2-alpha':2-beta heterotetramer measurement	EFO_0020237	[The determination of the amount of casein kinase II 2-alpha':2-beta heterotetramer in a sample]
Abnormal ciliary motility	HP_0012262	[Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions.]
casein kinase II subunit alpha measurement	EFO_0020238	[The determination of the amount of casein kinase II subunit alpha in a sample]
caspase-10 measurement	EFO_0020239	[The determination of the amount of caspase-10 in a sample]
complement C3D fragment measurement	EFO_0020277	[The determination of the amount of complement C3D fragment in a sample]
obsolete_qualitative or quantitative defects of nebulin	Orphanet_209182
complement C5 measurement	EFO_0020278	[The determination of the amount of complement C5 in a sample]
complement C5B-C6 complex measurement	EFO_0020279	[The determination of the amount of complement C5B-C6 complex in a sample]
COMM domain-containing protein 7 measurement	EFO_0020273	[The determination of the amount of COMM domain-containing protein 7 in a sample]
complement C2 measurement	EFO_0020274	[The determination of the amount of complement C2 in a sample]
complement C3B measurement	EFO_0020275	[The determination of the amount of complement C3B in a sample]
complement C3B, inactivated measurement	EFO_0020276	[The determination of the amount of complement C3B, inactivated in a sample]
obsolete_endocrine-cerebro-osteodysplasia syndrome	Orphanet_199332
collagen alpha-1(XXIII) chain measurement	EFO_0020270	[The determination of the amount of collagen alpha-1(XXIII) chain in a sample]
collagenase 3 measurement	EFO_0020271	[The determination of the amount of collagenase 3 in a sample]
obsolete_qualitative or quantitative defects of emerin	Orphanet_209188
collectin-12 measurement	EFO_0020272	[The determination of the amount of collectin-12 in a sample]
Pancreatic insufficiency - anemia - hyperostosis	Orphanet_199337
Cleidocranial dysplasia and isolated cranial ossification defect	Orphanet_93451