Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
isovalerylcarnitine measurement	EFO_0020019	[Quantification of isovalerylcarnitine levels in a sample.]
Spondyloepiphyseal dysplasia	HP_0002655	[A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).]
Skeletal dysplasia	HP_0002652	[A general term describing features characterized by abnormal development of bones and connective tissues.]
diacylglycerol 33:3 measurement	EFO_0020057	[The quantification of diacylglycerol 33:3 levels in a sample, typically blood ]
diacylglycerol 34:0 measurement	EFO_0020058	[The quantification of diacylglycerol 34:0 levels in a sample, typically blood ]
diacylglycerol 34:3 measurement	EFO_0020059	[The quantification of diacylglycerol 34:3 levels in a sample, typically blood ]
diacylglycerol 28:0 measurement	EFO_0020053	[The quantification of diacylglycerol 28:0 levels in a sample, typically blood ]
diacylglycerol 32:0 measurement	EFO_0020054	[The quantification of diacylglycerol 32:0 levels in a sample, typically blood ]
Bone pain	HP_0002653	[An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.]
diacylglycerol 32.2 measurement	EFO_0020055	[The quantification of diacylglycerol 32:2 levels in a sample, typically blood ]
Abnormal skeletal morphology	HP_0011842	[An abnormality of the form, structure, or size of the skeletal system.]
diacylglycerol 33:1 measurement	EFO_0020056	[The quantification of diacylglycerol 33:1 levels in a sample, typically blood ]
HUES45	EFO_0007082	[Human embryonic stem cell line derived from human blastocysts. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium.]
obsolete_atypical Norrie disease due to monosomy Xp11.3	Orphanet_261501
bile acid measurement	EFO_0020050	[The quantification of diacylglycerol 30:1 levels in a sample, typically blood ]
HUES44	EFO_0007081	[Human embryonic stem cell line derived from human blastocysts. [PMCID:PMC3335201]. Cells were provided by Harvard University and maintained on 10% KOSR (Invitrogen) medium.]
diacylglycerol 30:1 measurement	EFO_0020051	[The quantification of diacylglycerol 30:0 levels in a sample, typically blood ]
HUES3	EFO_0007080	[Human embryonic stem cell line with a normal 46XY karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium.]
diacylglycerol 30:0 measurement	EFO_0020052	[The quantification of diacylglycerol 30:1 levels in a sample, typically blood ]
HUES6	EFO_0007086	[Human embryonic stem cell line with a normal 46XX karyotype, pluripotency tested in vitro and in vivo. The stem cells were derived from human blastocysts and are strongly positive for a number of molecular markers of undifferentiated pluripotent human stem cells, including SSEA-3, SSEA-4, TRA-1-60, TRA-1-81, and alkaline phosphatase. [DOI: 10.1056/NEJMsr040330]. Cells were provided by Harvard University and maintained on KSR medium.]