Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Caffeic acid measurement	EFO_0021578	[Quantification of the amount of Caffeic acid in a sample.]
Azelaic acid measurement	EFO_0021577	[Quantification of the amount of Azelaic acid in a sample.]
9,10-dihome measurement	EFO_0021572	[Quantification of the amount of 9,10-dihome in a sample.]
5'-Deoxy-5'-(methylthio) adenosine measurement	EFO_0021571	[Quantification of the amount of 5'-Deoxy-5'-(methylthio) adenosine in a sample.]
Adenosine 5'-monophosphate measurement	EFO_0021574	[Quantification of the amount of Adenosine 5'-monophosphate in a sample.]
Adenine measurement	EFO_0021573	[Quantification of the amount of Adenine in a sample.]
Partial prune belly syndrome	Orphanet_93178
5-Methyluridine measurement	EFO_0021570	[Quantification of the amount of 5-Methyluridine in a sample.]
Bilateral renal dysplasia	Orphanet_93173	[Bilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.]
Unilateral renal dysplasia	Orphanet_93172	[Unilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.]
myopathy, centronuclear, 2	MONDO_0009709	[Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene.]
hereditary myopathy with lactic acidosis due to ISCU deficiency	MONDO_0009706	[Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.]
obsolete_autosomal recessive multiple pterygium syndrome	Orphanet_2990
carnitine palmitoyl transferase 1A deficiency	MONDO_0009705	[Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.]
carnitine palmitoyl transferase II deficiency, myopathic form	MONDO_0009704	[The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency.]
myopathy with abnormal lipid metabolism	MONDO_0009703
Carey-Fineman-Ziter syndrome	MONDO_0009700	[Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.]
Ptosis - strabismus - ectopic pupils	Orphanet_2999
Ptosis - vocal cord paralysis	Orphanet_2997
4-Pyridoxic acid measurement	EFO_0021569	[Quantification of the amount of 4-Pyridoxic acid in a sample.]