Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Streptococcus pyogenes MGAS5005	NCBITaxon_293653
Enchytraeus albidus	NCBITaxon_6390
hydroxyprolinemia	MONDO_0009374
seizures-intellectual disability due to hydroxylysinuria syndrome	MONDO_0009373	[Seizures-intellectual disability due to hydroxylysinuria syndrome is characterised by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient.]
glycogen storage disease IXd	MONDO_0010362	[A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness.]
encephalopathy due to hydroxykynureninuria	MONDO_0009372	[Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway.]
inborn disorder of tryptophan metabolism	MONDO_0017350	[An acquired metabolic disease that is has its basis in the disruption of tryptophan metabolic process.]
3-hydroxyisobutyric aciduria	MONDO_0009371	[3 hydroxyisobutyric aciduria is characterised by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive.]
X-linked intellectual disability-retinitis pigmentosa syndrome	MONDO_0010364	[X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.]
L-2-hydroxyglutaric aciduria	MONDO_0009370	[L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.]
SHOX-related short stature	MONDO_0010367	[SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never.]
Eisenia fetida	NCBITaxon_6396
Finger clinodactyly	HP_0040019
chin morphology measurement	EFO_0007842	[quantification of some aspect of chin morphology such as chin shape or chin protrusion]
tumor necrosis factor receptor superfamily member 17 measurement	EFO_0020806	[The determination of the amount of tumor necrosis factor receptor superfamily member 17 in a sample]
tumor necrosis factor receptor superfamily member 18 measurement	EFO_0020807	[The determination of the amount of tumor necrosis factor receptor superfamily member 18 in a sample]
pesticide exposure measurement	EFO_0007840	[quantification of some aspect of pesticide exposure such as frequency, duration or severity]
tumor necrosis factor receptor superfamily member 19 measurement	EFO_0020808	[The determination of the amount of tumor necrosis factor receptor superfamily member 19 in a sample]
tumor necrosis factor receptor superfamily member 1Ameasurement	EFO_0020809	[The determination of the amount of tumor necrosis factor receptor superfamily member 1A in a sample]
tumor necrosis factor receptor superfamily member 12A measurement	EFO_0020802	[The determination of the amount of tumor necrosis factor receptor superfamily member 12A in a sample]