Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
adrenocortical insufficiency	EFO_0009491	[An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency)., An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency). [ NCIT ]]
Alexander disease type II	MONDO_0018210	[Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.]
glycerophosphocholine measurement	EFO_0010489	[Quantification of glycerophosphocholine levels in a sample.]
glutamate measurement	EFO_0010487	[Quantification of glutamate levels in a sample.]
glycerol-3-phosphate measurement	EFO_0010488	[Quantification of glycerol-3-phosphate levels in a sample.]
glycerol measurement	EFO_0010115	[A quantification of glycerol in a sample.]
C1 100080013	EFO_0009496	[Cell line from olfactory neurosphere cells from a 64-year-old human male.]
glucose-6-phosphate measurement	EFO_0010485	[Quantification of glucose-6-phosphate levels in a sample.]
glucuronate measurement	EFO_0010486	[Quantification of glucuronate levels in a sample.]
MSLCL	EFO_0009497	[Lymphoblastoid cell line from a Caucasian male with type 2 diabetes, same donor as of MSiPS cell line.]
MSiPS	EFO_0009498	[Induced pluripotent stem cell line from a Caucasian male with type 2 diabetes, same donor as of MSLCL cell line.]
disease cell type	EFO_0005934
gentisic acid measurement	EFO_0010483	[Quantification of gentisic acid levels in a sample.]
HCEC 2CT	EFO_0009499	[Cells isolated from colonic biopsy of 'patient 2' (Roig et al 2010), and immortalized by expression of Cdk4 and hTERT.]
glucose-1-phosphate measurement	EFO_0010484	[Quantification of kglucose-1-phosphate levels in a sample.]
camptodactyly syndrome, Guadalajara type 2	MONDO_0008899	[Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.]
camptodactyly syndrome, Guadalajara	MONDO_0000111
galactose measurement	EFO_0010481	[Quantification of galactose levels in a sample.]
camptodactyly syndrome, Guadalajara type 1	MONDO_0008898	[Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.]
gamma-aminoisobutyric acid measurement	EFO_0010482	[Quantification of gamma-aminoisobutyric levels in a sample.]