Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
disease arising from reactivation of latent virus	MONDO_0100330	[An infectious disease that arises from reactivation of a virus from a latent phase to a lytic phase.]
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 measurement	EFO_0020108	[The determination of the amount of 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 in a sample]
parenchymal hematoma	EFO_0020101	[A severe presentation of intracerebral bleeding.]
intracerebral hemorrhage	EFO_0005669	[Bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma., stroke subtype classified by the rupture of blood vessels in the lobar or nonlobar regions of the brain]
circulating alpha-Klotho measurement	EFO_0020102	[Quantification of circulating alpha-Klotho in a sample.]
childhood gender nonconformity	EFO_0020103	[Childhood gender nonconformity (CGN) is a phenomenon in which prepubescent children do not conform to expected gender-related sociological or psychological patterns, or identify with the opposite sex/gender]
gender identity disorder	EFO_0008587	[A disorder characterized by a strong and persistent cross-gender identification (such as stating a desire to be the other sex or frequently passing as the other sex) coupled with persistent discomfort with his or her sex (manifested in adults, for example, as a preoccupation with altering primary and secondary sex characteristics through hormonal manipulation or surgery)., A disorder characterized by a strong and persistent cross-gender identification (such as stating a desire to be the other sex or frequently passing as the other sex) coupled with persistent discomfort with his or her sex (manifested in adults, for example, as a preoccupation with altering primary and secondary sex characteristics through hormonal manipulation or surgery). [ NCI ]]
pelvis bone mineral density	EFO_0020104	[Mineral density of the pelvis bone.]
Pulmonary capillary hemangiomatosis	Orphanet_199241	[Pulmonary capillary hemangiomatosis (PCH) is a rare form of pulmonary arterial hypertension (PAH, see this term) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal.]
Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis	EFO_0009199	[Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (PVOD and/or PCH) constitutes a rare subgroup of pulmonary arterial hypertension (PAH) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction., Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (PVOD and/or PCH) constitutes a rare subgroup of pulmonary arterial hypertension (PAH; see this term) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction.]
obsolete_craniotelencephalic dysplasia	Orphanet_1528
obsolete_craniofacial-deafness-hand syndrome	Orphanet_1529
asparaginase activity measurement	EFO_0009790	[Quantification of the activity of the enzyme asparaginase in a sample, following its administration as a medication. Asparaginase is typically used in the treatment of acute lymphoblastic leukemia, acute myeloid leukemia, and non-Hodgkin's lymphoma.]
asparaginase hypersensitivity	EFO_0004881	[Is an allergy to asaparaginase. Asparaginase is an enzyme isolated from the bacterium Escherichia coli or the bacterium Erwinia carotovora with antileukemic activity]
Saccharomyces paradoxus NRRL Y-17217	NCBITaxon_226125
obsolete_corticosteroid-binding globulin deficiency	Orphanet_199247
fatty acid desaturase enzyme activity measurement	EFO_0009791	[Quantification of the amount of fatty acid desaturase enzyme activity.]
valine measurement	EFO_0009792	[Quantification of the amount of the amino acid valine in a sample.]
CXCL11 measurement	EFO_0010779	[Quantification of the amount of CXCL11 protein in a sample]
acute disseminated encephalomyelitis	EFO_0007130	[An encephalomyelitis characterized by inflammation located_in brain and located_in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection., Acute disseminated encephalomyelitis (ADEM) is a demyelinating disorder of the central nervous system.]