Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
CAPN5-related vitreoretinopathy	MONDO_0100450	[An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients.]
inherited vitreoretinopathy	MONDO_0020246
monocytic leukemia	MONDO_0004600
neonatal-onset developmental and epileptic encephalopathy	MONDO_0100455	[A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur.]
neonatal epilepsy syndrome	MONDO_0020070
halothane	CHEBI_5615	[A haloalkane comprising ethane having three flouro substituents at the 1-position as well as bromo- and chloro substituents at the 2-position., A haloalkane that has formula C2HBrClF3.]
haloperidol	CHEBI_5613	[A hydroxypiperidine that has formula C21H23ClFNO2., A compound composed of a central piperidine structure with hydroxy and p-chlorophenyl substituents at position 4; and an N-linked p-fluorobutyrophenone moiety.]
obsolete_Muenke syndrome	Orphanet_53271
methylmalonic aciduria and/or homocystinuria, cblD type	MONDO_0100463	[An autosomal recessive inborn disorder of cobalamin metabolism caused by biallelic variants in MMADHC. Depending on the type and location of variants in MMADHC, patients may present with methylmalonic aciduria, homocystinuria, or both. MMADHC has been reported to result in the cblD complementation group of cobalamin disorders.]
acid sphingomyelinase deficiency	MONDO_0100464	[An autosomal recessive lysosomal disease caused by biallelic loss of function variants in the SMPD1 gene. Clinical symptoms in affected individuals occur along a continuum. At the severe end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type A (the neurovisceral form), which is characterized by hepatosplenomegaly with rapid neurological deterioration leading to death in the first few years of life. At the milder end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type B, a later-onset, chronic visceral form, characterized by progressive visceral organ symptoms including hepatosplenomegaly and pulmonary insufficiency, and survival into adulthood. In addition, some affected individuals present with an intermediate phenotype, Niemann-Pick disease type A/B.]
Niemann-Pick disease	EFO_1001380	[A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell.]
citrullinemia type II	MONDO_0016603	[Citrullinemia type II is a severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.]
citrin deficiency	MONDO_0016602	[Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).]
dysraphism-cleft lip/palate-limb reduction defects syndrome	MONDO_0016604
regulation of platelet activation	GO_0010543	[Any process that modulates the rate or frequency of platelet activation. Platelet activation is a series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue.]
regulation of cell activation	GO_0050865	[Any process that modulates the frequency, rate or extent of cell activation, the change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand.]
regulation of wound healing	GO_0061041	[Any process that modulates the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury.]
perinatal lethal hypophosphatasia	MONDO_0016605	[A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.]
obsolete prenatal benign hypophosphatasia	MONDO_0016606	[OBSOLETE. Prenatal benign hypophosphatasia (PB-HPP) is a very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later develop into the milder infantile, childhood or adult forms of the disease.]
Microphthalmia - brain atrophy	Orphanet_77299