Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
familial hyperinsulinism	MONDO_0017182	[An instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome.]
hyperinsulinemic hypoglycemia, familial, 4	MONDO_0012382	[Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the HADH gene.]
3-hydroxyacyl-CoA dehydrogenase deficiency	MONDO_0017715
diazoxide-sensitive diffuse hyperinsulinism	MONDO_0015624
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	MONDO_0012383	[The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21.]
obsolete_intellectual disability-brachydactyly-Pierre Robin syndrome	Orphanet_364577
obsolete_acrofacial dysostosis	Orphanet_364574
Increased blood pressure	HP_0032263	[Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension.]
Abnormal systemic blood pressure	HP_0030972	[A chronic deviation from normal pressure in the systemic arterial system.]
complex cortical dysplasia with other brain malformations 7	MONDO_0012399	[Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene.]
complex cortical dysplasia with other brain malformations	MONDO_0000904
neuronal ceroid lipofuscinosis 8 northern epilepsy variant	MONDO_0012391	[Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.]
neuronal ceroid lipofuscinosis 8	MONDO_0010830	[Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene.]
2-methylbutyryl-CoA dehydrogenase deficiency	MONDO_0012392	[A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.]
exercise-induced hyperinsulinism	MONDO_0012396	[Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells.]
disorder of carbohydrate absorption and transport	MONDO_0017706
Parasteatoda tepidariorum	NCBITaxon_114398
congenital brain dysgenesis due to glutamine synthetase deficiency	MONDO_0012393
disorder of glutamine metabolism	MONDO_0017352
circadian rhythm sleep disorder	MONDO_0024361	[A persistent or recurrent pattern of sleep disruption that is primarily due to an alteration of the circadian system or to a misalignment between the endogenous circadian rhythm and the sleep-wake schedule required by an individual's physical environment or social or professional schedule.(DSM IV)]