Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Rolandic epilepsy - speech dyspraxia	Orphanet_163721
Fryns syndrome	MONDO_0009253	[Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.]
essential fructosuria	MONDO_0009252	[Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.]
fructose-1,6-bisphosphatase deficiency	MONDO_0009251	[Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.]
carotid artery external diameter measurement	EFO_0007719	[Quantification of the external diameter of the carotid artery]
X-linked immunoneurologic disorder	MONDO_0010243	[X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.]
developmental and epileptic encephalopathy, 9	MONDO_0010246	[Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.]
3-(3-hydroxyphenyl)propanoate	CHEBI_57277	[A monocarboxylic acid anion that is the conjugate base of 3-(3-hydroxyphenyl)propanoic acid.]
Autosomal dominant Charcot-Marie-Tooth disease type 2Q	Orphanet_329258
X-linked spondyloepimetaphyseal dysplasia	MONDO_0010248	[X-linked form of spondyloepimetaphyseal dysplasia.]
X-linked cerebral adrenoleukodystrophy	MONDO_0010247	[A peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency.]
resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta	MONDO_0034217
thyroid hormone resistance syndrome	MONDO_0001328	[An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine.]
Brugia malayi	NCBITaxon_6279
carotid artery central pulse pressure measurement	EFO_0007721	[Quantification of the central pulse pressure in the carotid artery]
carotid artery measurement	EFO_0007716	[Quantification of some aspect of the carotid artery, eg its size, diameter or stiffness]
carotid artery internal diameter measurement	EFO_0007720	[Quantification of the internal diameter of the carotid artery]
lissencephaly type 1 due to doublecortin gene mutation	MONDO_0010239	[Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients.]
subcortical band heterotopia	MONDO_0020491	[A developmental brain abnormality characterized by atypical migration of neurons during cortical development.]
carotid artery circumferential wall stress measurement	EFO_0007724	[Quantification of the circumferential wall stress of the carotid artery, an indicator for carotid artery stiffness]