Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Craniosynostosis - fibular aplasia	Orphanet_1533
activin receptor type-1B measurement	EFO_0020127	[The determination of the amount of activin receptor type-1B in a sample]
adapter molecule CRK measurement	EFO_0020128	[The determination of the amount of adapter molecule CRK in a sample]
obsolete_craniosynostosis	Orphanet_1531
adenylate kinase isoenzyme 1 measurement	EFO_0020129	[The determination of the amount of adenylate kinase isoenzyme 1 in a sample]
Gómez-López-Hernández syndrome	Orphanet_1532
obsolete_qualitative or quantitative defects of protein ZASP	Orphanet_209050
a disintegrin and metalloproteinase with thrombospondin motifs 15 measurement	EFO_0020123	[The determination of the amount of a disintegrin and metalloproteinase with thrombospondin motifs 15 in a sample]
a disintegrin and metalloproteinase with thrombospondin motifs 4 measurement	EFO_0020124	[The determination of the amount of a disintegrin and metalloproteinase with thrombospondin motifs 4 in a sample]
acidic leucine-rich nuclear phosphoprotein 32 family member b measurement	EFO_0020125	[The determination of the amount of acidic leucine-rich nuclear phosphoprotein 32 family member b in a sample]
activated protein C measurement	EFO_0020126	[The determination of the amount of activated protein C in a sample]
Abnormality of the dentition	HP_0000164	[Any abnormality of the teeth.]
6-phosphogluconate dehydrogenase, decarboxylating measurement	EFO_0020120	[The determination of the amount of 6-phosphogluconate dehydrogenase, decarboxylating in a sample]
60 kda heat shock protein, mitochondrial measurement	EFO_0020121	[The determination of the amount of 60 kda heat shock protein, mitochondrial in a sample]
72 kda type IV collagenase measurement	EFO_0020122	[The determination of the amount of 72 kda type IV collagenase in a sample]
Narrow mouth	HP_0000160	[Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).]
Median cleft lip	HP_0000161	[A type of cleft lip presenting as a midline (median) gap in the upper lip.]
obsolete_qualitative or quantitative defects of alpha-actin	Orphanet_209059
obsolete_qualitative or quantitative defects of telethonin	Orphanet_209056
Arterivirus infectious disease	EFO_0007152	[Infections caused by viruses of the family arteriviridae., A Arteriviridae infectious disease that results_in infection in animals, has_material_basis_in Arterivirus.]