Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
combined oxidative phosphorylation deficiency 40	MONDO_0030006
combined oxidative phosphorylation deficiency 42	MONDO_0030008
combined oxidative phosphorylation deficiency 41	MONDO_0030007
inborn error of biotin metabolism	MONDO_0020698
glycogen storage disease due to liver phosphorylase kinase deficiency	MONDO_0020693	[A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.]
X-12231 measurement	EFO_0021297	[Quantification of the amount of X-12231 in a sample.]
X-12230 measurement	EFO_0021296	[Quantification of the amount of X-12230 in a sample.]
X-12244--N-acetylcarnosine measurement	EFO_0021299	[Quantification of the amount of X-12244--N-acetylcarnosine in a sample.]
female infertility due to oocyte meiotic arrest	MONDO_0044626
sudden hearing loss disorder	MONDO_0020677
X-12236 measurement	EFO_0021298	[Quantification of the amount of X-12236 in a sample.]
X-12212 measurement	EFO_0021293	[Quantification of the amount of X-12212 in a sample.]
infantile axonal neuropathy	MONDO_0017047
X-12206 measurement	EFO_0021292	[Quantification of the amount of X-12206 in a sample.]
autism, susceptibility to, 20	MONDO_0030004
X-12217 measurement	EFO_0021295	[Quantification of the amount of X-12217 in a sample.]
hypomyelination neuropathy-arthrogryposis syndrome	MONDO_0017049	[Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.]
X-12216 measurement	EFO_0021294	[Quantification of the amount of X-12216 in a sample.]
congenital mesoblastic nephroma	MONDO_0017043	[A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis.]
adult familial nephronophthisis-spastic quadriparesia syndrome	MONDO_0017044	[This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients.]