Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Hearing loss - familial salivary gland insensitivity to aldosterone	Orphanet_3225
pontocerebellar hypoplasia type 4	MONDO_0009166	[Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.]
epidermodysplasia verruciformis	MONDO_0009176	[Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.]
ulna hypoplasia-intellectual disability syndrome	MONDO_0010165	[Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.]
phocomelia, Schinzel type	MONDO_0010164	[Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.]
Bartonella koehlerae	NCBITaxon_92181
urocanic aciduria	MONDO_0010167	[Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.]
congenital enteropathy due to enteropeptidase deficiency	MONDO_0009173	[A rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.]
Usher syndrome type 2A	MONDO_0010169	[Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene.]
tyrosinemia type I	MONDO_0010161	[Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.]
tyrosinemia type II	MONDO_0010160	[Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.]
ammonium sulfate	CHEBI_62946	["An inorganic sulfate salt obtained by reaction of sulfuric acid with two equivalents of ammonia. A high-melting (decomposes above 280degreeC) white solid which is very soluble in water (70.6 g/100 g water at 0degreeC; 103.8 g/100 g water at 100degreeC), it is widely used as a fertilizer for alkaline soils." []]
tyrosinemia type III	MONDO_0010162	[Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.]
SUDHL1	EFO_0005461
obsolete_progressive deafness with stapes fixation	Orphanet_3235
Hypoinsulinemia	HP_0040216	[A decreased concentration of insulin in the blood.]
SW527	EFO_0005462
Cochleosaccular degeneration - cataract	Orphanet_3233
SKI-DCLC	EFO_0005460
Deafness - ear malformation - facial palsy	Orphanet_3232