Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Machado-Joseph disease type 3	MONDO_0017176	[Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.]
hemihyperplasia-multiple lipomatosis syndrome	MONDO_0017177	[Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.]
mucopolysaccharidosis type 6, rapidly progressing	MONDO_0017171
mucopolysaccharidosis type 6, slowly progressing	MONDO_0017172
5-fluorouridine	CHEBI_185922	[The 5-fluoro derivative of uridine.]
adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia	MONDO_0017189	[Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide]
neurodevelopmental disorder with midbrain and hindbrain malformations	MONDO_0056797
autosomal dominant hyperinsulinism due to Kir6.2 deficiency	MONDO_0017185	[Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism).]
hyperinsulinemic hypoglycemia, familial, 2	MONDO_0011153	[Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene.]
diazoxide-resistant hyperinsulinism	MONDO_0017186	[Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulism caused by an abnormal insulin production by B-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide.]
diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency	MONDO_0017187
hyperinsulinemic hypoglycemia, familial, 1	MONDO_0009734	[Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene.]
diazoxide-resistant focal hyperinsulinism	MONDO_0019265	[Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion.]
diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency	MONDO_0017188
hyperinsulinism due to UCP2 deficiency	MONDO_0017183	[HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.]
autosomal dominant hyperinsulinism due to SUR1 deficiency	MONDO_0017184	[Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism).]
10q22.3q23.3 microduplication syndrome	MONDO_0017180
Tilarginine	NCIT_C1178
osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome	MONDO_0017196	[Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents.]
osteopathia striata-pigmentary dermopathy-white forelock syndrome	MONDO_0017197	[Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterised by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock.]