Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
dopamine beta-hydroxylase measurement	EFO_0020952	[Quantification of the amount of dopamine beta-hydroxylase in a sample.]
obsolete_sarcosinemia	Orphanet_3129
omentin measurement	EFO_0020953	[Quantification of the amount of omentin in a sample.]
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	MONDO_0009069	[Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.]
obsolete_Sakati-Nyhan syndrome	Orphanet_3128
pigement epithleium-derived factor (PEDF) measurement	EFO_0020954	[Quantification of the amount of pigement epithleium-derived factor in a sample.]
GM12866	EFO_0005339
beta-microseminoprotein measurement	EFO_0020955	[Quantification of the amount of beta-microseminoprotein in a sample.]
cystinuria	MONDO_0009067	[Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones.]
alpha-amino-N-butyric acid measurement	EFO_0020992	[Quantification of alpha-amino-N-butyric acid in a sample.]
familial isolated congenital asplenia	MONDO_0010066	[Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.]
response to acamprosate	EFO_0020993	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of acamprosate.]
cancer antigen 50 measurement	EFO_0020994	[Quantification of the amount of cancer antigen 50 in a sample, typically serum.]
Dandy-Walker malformation-postaxial polydactyly syndrome	MONDO_0009075	[Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.]
spondyloepimetaphyseal dysplasia, sponastrime type	MONDO_0010068	[A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation.]
squamous cell carcinoma antigen measurement	EFO_0020995	[Quantification of the amount of squamous cell carcinoma antigen in a sample.]
facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome	MONDO_0009074	[Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterised by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive.]
presumptive cephalic mesoderm	UBERON_2000414
spondylocostal dysostosis-anal and genitourinary malformations syndrome	MONDO_0010069	[Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterised by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested.]
Streptomyces avermitilis	NCBITaxon_33903