Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	MONDO_0008727	[Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.]
46,XY disorder of sex development of endocrine origin	MONDO_0017969
Balkan nephropathy	EFO_0007164	[A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease., An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria.]
hereditary nephritis	EFO_0004128	[A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane., A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE.]
interstitial nephritis	MONDO_0001085	[Inflammation of the renal tubules and supporting tissues of the kidney.]
congenital lipoid adrenal hyperplasia due to STAR deficency	MONDO_0008725	[Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.]
adducted thumbs-arthrogryposis syndrome, Christian type	MONDO_0008724	[A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism ("myopathic" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983.]
obsolete_qualitative or quantitative defects of myofibrillar proteins	Orphanet_209038
biliary dyskinesia	EFO_0007169	[A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree., A motility disorder characterized by biliary colic, absence of gallstones, and an abnormal gallbladder ejection fraction. It is caused by gallbladder dyskinesia and/or sphincter of oddi dysfunction.]
very long chain acyl-CoA dehydrogenase deficiency	MONDO_0008723	[An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.]
long chain acyl-CoA dehydrogenase deficiency	MONDO_0020531	[A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.]
berylliosis	EFO_0007168	[A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds., Chronic beryllium disease (CBD) is a granulomatous, interstitial lung disease that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea.]
short chain acyl-CoA dehydrogenase deficiency	MONDO_0008722	[Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.]
acyl-CoA dehydrogenase deficiency	MONDO_0017714
age of onset of Machado-Joseph disease	OBA_2040160	[The age at which Machado-Joseph disease manifestations first appear.]
Craniosynostosis - Dandy-Walker malformation - hydrocephalus	Orphanet_1538
medium chain acyl-CoA dehydrogenase deficiency	MONDO_0008721	[Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.]
age of onset of major depressive disorder	OBA_2040161	[The age at which major depressive disorder manifestations first appear.]
age of onset of depressive disorder	OBA_2040166	[The age at which depressive disorder manifestations first appear.]
obsolete_Craniosynostosis - dysmorphism - brachydactyly	Orphanet_1535