Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
C-X-C motif chemokine 13 measurement	EFO_0020205	[The determination of the amount of C-X-C motif chemokine 13 in a sample]
Joubert syndrome with hepatic defect	Orphanet_1454	[Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).]
Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability	Orphanet_330197
Genetic syndrome with a cerebellar malformation as major feature	Orphanet_269567
C3a anaphylatoxin des arginine measurement	EFO_0020206	[The determination of the amount of C3a anaphylatoxin des arginine in a sample]
Abnormality of the lower limb	HP_0002814	[An abnormality of the leg.]
C3a anaphylatoxin measurement	EFO_0020207	[The determination of the amount of C3a anaphylatoxin in a sample]
C-type lectin domain family 1 member B measurement	EFO_0020200	[The determination of the amount of C-type lectin domain family 1 member B in a sample]
C-type lectin domain family 4 member K measurement	EFO_0020201	[The determination of the amount of C-type lectin domain family 4 member K in a sample]
C-type lectin domain family 4 member M measurement	EFO_0020202	[The determination of the amount of C-type lectin domain family 4 member M in a sample]
C-type lectin domain family 7 memberAmeasurement	EFO_0020203	[The determination of the amount of C-type lectin domain family 7 memberA in a sample]
information entity	IAO_0000030	[An information entity is an entity that represents information about some other entity. For example, a measurement, a clustered data set.]
lean mass-adjusted fat body mass	EFO_0009890	[Quantification of an individual's body fat mass that has been corrected for lean mass.]
fat body mass	EFO_0005409	[The weight of the individual's body fat.]
carbamazepine metabolite measurement	EFO_0009891	[Quantification of some metabolite of the anti-epileptic drug carbamazepine.]
HG03378	EFO_0010878	[Lymphoblastoid cell line from a Mende female from Sierra Leone]
HG03432	EFO_0010879	[Lymphoblastoid cell line from a Mende male from Sierra Leone]
HG03342	EFO_0010876	[Lymphoblastoid cell line from an Esan female from Nigeria]
HG03354	EFO_0010877	[Lymphoblastoid cell line from an Esan female from Nigeria]
anti-thyroglobulin antibody measurement	EFO_0009896	[A quantification of antibodies against thyroglobulin, usually as an indicator of autoimmune thyroid disease.]