Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
free lanosterol measurement	EFO_0020961	[Quantification of the amount of free lanosterol in a sample.]
ocular cystinosis	MONDO_0009064	[Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations.]
total campesterol measurement	EFO_0020962	[Quantification of the amount of total campesterol in a sample. Campesterol is a phytosterol (molecular formula C28H48O) whose chemical structure is similar to that of cholesterol.]
ventriculomegaly-cystic kidney disease	MONDO_0009063
spinal muscular atrophy, type IV	MONDO_0010056	[Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.]
cystic fibrosis-gastritis-megaloblastic anemia syndrome	MONDO_0009062	[A rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.]
cystic fibrosis	MONDO_0009061	[Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.]
obsolete_familial papillary thyroid carcinoma with renal papillary neoplasia	Orphanet_97290
Short nose	HP_0003196	[Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.]
Decreased muscle mass	HP_0003199
Congenital isolated thyroxine-binding globulin deficiency	Orphanet_209893
spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome	MONDO_0010051	[Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome is characterized by nonprogressive spastic paraplegia, retinitis pigmentosa, and intellectual deficit. It has been described in two brothers born to consanguineous parents.]
basophil percentage of leukocytes	EFO_0007992	[A calculated measurement in which the number of basophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. A basophil is a granular leukocyte with an irregularly shaped, relatively pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm containing coarse granules of variable size that stain bluish-black when exposed to basic dyes.]
eosinophil percentage of leukocytes	EFO_0007991	[A calculated measurement in which the number of eosinophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. An eosinophil is a granular leukocyte having a nucleus with two lobes connected by a thread of chromatin, and cytoplasm containing coarse, round granules of uniform size that stain readily with eosin and other acid dyes.]
eosinophil count	EFO_0004842	[Is a quantification of eosinphils in blood., The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter.]
obsolete_saccharopinuria	Orphanet_3124
neutrophil percentage of leukocytes	EFO_0007990	[A calculated measurement in which the number of neutrophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. A neutrophil is, or is in the process of becoming, a granular leucocyte having a nucleus with three to five lobes connected by threads of chromatin, cytoplasm containing very fine granules, and which is readily stainable with neutral dyes.]
neutrophil count	EFO_0004833	[Is a quantification of neutrophils in blood., The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter.]
GM08714	EFO_0005333
eosinophil percentage of granulocytes	EFO_0007996	[A calculated measurement in which the number of eosinophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage.]