Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
arginine measurement	EFO_0020990	[Quanitification of argininine levels in a sample.]
hereditary renal hypouricemia	MONDO_0009071	[Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF).]
ethanolamine measurement	EFO_0020991
D-glyceric aciduria	MONDO_0009070	[A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21.]
pterosphenoid	UBERON_2000419	[Endochondral bone that sutures with the orbitosphenoid anteriorly, the frontal bone dorsally and the sphenotic and prootic posteriorly. The pterosphenoid forms part of the orbitosphenoid region. The pterosphenoid bears foramina that accommodate branches of the trigeminal and facial nerves. The pterosphenoid is a paired bone.]
infantile onset spinocerebellar ataxia	MONDO_0010060	[Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.]
spinocerebellar ataxia-dysmorphism syndrome	MONDO_0010062	[Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive.]
autosomal recessive cerebellar ataxia-blindness-deafness syndrome	MONDO_0010061
autosomal recessive syndromic cerebellar ataxia	MONDO_0020047
spastic ataxia-corneal dystrophy syndrome	MONDO_0010064	[Mousa-AlDin-AlNassar syndrome is characterised by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia.]
paired fin bud	UBERON_0002531	[An outgrowth on the lateral trunk of the embryo that develops into a paired fin. The fin bud is divided into ectoderm and mesenchyme[cjm, modified from MP].]
corneal-cerebellar syndrome	MONDO_0010063	[A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.]
CCD-16Lu	EFO_0005362
CCD-19Lu	EFO_0005363
CCD-11Lu	EFO_0005360
calcifying epithelial odontogenic tumor	MONDO_0022057	[A slow growing, locally invasive neoplasm arising from tooth-forming tissues. It most often grows intraosseously in the mandible and less frequently in the maxilla. In a minority of cases it grows extraosseously in the gingiva. It is characterized by the presence of a fibrous stroma, epithelial cells with abundant eosinophilic cytoplasm, and amyloid material which is often calcified. Small tumors may be successfully treated with enucleation. Local resection is usually required for larger tumors. Recurrences have been reported in a minority of cases.]
CCD-13Lu	EFO_0005361
obsolete_familial clubfoot due to PITX1 point mutation	Orphanet_293150
CCD-33Lu	EFO_0005366
CCD-8Lu	EFO_0005367