Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Constitutional neutropenia with extra-haematopoietic manifestations	Orphanet_331184
Classical phenylketonuria	Orphanet_79254	[Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.]
soil metagenome	NCBITaxon_410658
obsolete_mild phenylketonuria	Orphanet_79253
obsolete_GM1 gangliosidosis type 2	Orphanet_79256	[GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.]
quinolinic acid measurement	EFO_0010528	[Quantification of quinolinic acid levels in a sample.]
obsolete_GM1 gangliosidosis type 1	Orphanet_79255	[GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations.]
ribose-5-phosphate measurement	EFO_0010529	[Quantification of ribose-5-phosphate levels in a sample.]
obsolete_trisomy 1q	Orphanet_261344
pyridoxate measurement	EFO_0010527	[Quantification of pyridoxate levels in a sample.]
pimelic acid measurement	EFO_0010524	[Quantification of pimelic acid levels in a sample.]
propionic acid measurement	EFO_0010525	[Quantification of propionic acid levels in a sample.]
sorbitol measurement	EFO_0010533	[Quantification of sorbitol levels in a sample.]
upper digestive tract disorder	MONDO_0044991	[A disease or disorder that involves the upper digestive tract.]
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome	MONDO_0008806	[Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.]
esophageal varices	EFO_0009545	[Abnormally dilated veins of the esophagus.]
varicose disease	MONDO_0008638	[A vascular disease characterized by the presence of enlarged and tortuous veins.]
suberic acid measurement	EFO_0010534	[Quantification of suberic acid levels in a sample.]
GM17102	CLO_0014896	[HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24]
S-adenosylhomocysteine measurement	EFO_0010531	[Quantification of S-adenosylhomocysteine levels in a sample.]