Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
primary interstitial lung disease specific to adulthood	MONDO_0017027
obsolete_D-2-hydroxyglutaric aciduria	Orphanet_79315	[D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.]
hamartoma	EFO_1000634	[A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern.]
obsolete_L-2-hydroxyglutaric aciduria	Orphanet_79314	[L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.]
hemangioma	EFO_1000635	[A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels.]
vascular anomaly	MONDO_0019063
benign blood vessel neoplasm	MONDO_0024286	[A benign neoplasm arising from arteries or veins.]
Vitamin B12-responsive methylmalonic acidemia type cblB	Orphanet_79311
Rare genetic renal disease	Orphanet_98056
Methylmalonic acidemia without homocystinuria	Orphanet_293355	[Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase.]
Vitamin B12-responsive methylmalonic acidemia type cblA	Orphanet_79310
obsolete_disorder of fucoglycosan synthesis	Orphanet_309505
infantile epileptic encephalopathy	EFO_1000643	[an epileptic condition characterized by epileptiform abnormalities associated with progressive cerebral dysfunction. In the classification of the International League Against Epilepsy eight age-related epileptic encephalopathy syndromes are recognized.]
Autosomal dominant limb-girdle muscular dystrophy	Orphanet_102014
newborn respiratory distress syndrome	EFO_1000644	[A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts., A condition beginning in the first day of life that results from inadequate surfactant production, causing increased work of breathing and impaired gas exchange., A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts]
pediatric acute respiratory distress syndrome	MONDO_0100131	[Acute respiratory distress syndromet that occurs in pediatric patients and includes findings of new infiltrates (unilateral or bilateral) consistent with acute parenchymal disease, edema not fully explained by fluid overload or cardiac failure, and may present as new acute lung disease in setting of chronic lung disease and/or heart disease, and perinatal lung disease is excluded.]
primary interstitial lung disease specific to childhood	MONDO_0017015
obsolete_autosomal recessive limb-girdle muscular dystrophy	Orphanet_102015
congenital nonspherocytic hemolytic anemia	EFO_1000641	[Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase., Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. In some cases, pyruvate kinase deficiency has been demonstrated; in other cases, glucose-6-phosphate dehydrogenase deficiency has been demonstrated.]
familial hemolytic anemia	MONDO_0003689	[A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies.]