Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
ileum	UBERON_0002116	[The portion of the small intestine that extends from the jejunum to the colon.]
obsolete_partial deletion of the short arm of chromosome 19	Orphanet_261983
gallbladder	UBERON_0002110	[An organ that aids digestion and stores bile produced by the liver[WP].]
Caldicellulosiruptor hydrothermalis	NCBITaxon_413888
smooth muscle of esophagus	UBERON_0002112	[A portion of smooth muscle tissue that is part of a esophagus [Automatically generated definition].]
endocrine gland	UBERON_0002368	[Endocrine glands are glands of the endocrine system that secrete their products directly into the circulatory system rather than through a duct.[WP, modified].]
pronephros	UBERON_0002120	[In mammals, the pronephros is the first of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the pronephros is the fully functional embryonic kidney and is indispensible for larval life[GO].]
medulla of thymus	UBERON_0002124	[Medullary portion of thymus. The reticulum is coarser than in the cortex, the lymphoid cells are relatively fewer in number, and there are found peculiar nest-like bodies, the concentric corpuscles of Hassall. These concentric corpuscles are composed of a central mass, consisting of one or more granular cells, and of a capsule formed of epithelioid cells. They are the remains of the epithelial tubes, which grow out from the third branchial pouches of the embryo to form the thymus. Each follicle is surrounded by a vascular plexus, from which vessels pass into the interior, and radiate from the periphery toward the center, forming a second zone just within the margin of the medullary portion. In the center of the medullary portion there are very few vessels, and they are of minute size.]
Lambert syndrome	MONDO_0009507	[Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.]
GM11840	CLO_0020019	[CEPH/UTAH PEDIGREE 1349 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19]
specific granule deficiency	MONDO_0009506
lactic aciduria due to D-lactic acid	MONDO_0009505
mitochondrial DNA depletion syndrome 9	MONDO_0009504	[Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.]
pyruvate dehydrogenase E3-binding protein deficiency	MONDO_0009503	[Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction.]
pyruvate dehydrogenase E2 deficiency	MONDO_0009502	[Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.]
metabolic myopathy due to lactate transporter defect	MONDO_0009501	[Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.]
obsolete_chronic hepatic porphyria	Orphanet_95161
Remnants of the hyaloid vascular system	HP_0007968	[Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract.]
Glucose-6-phosphate	BAO_0000925
Donohue syndrome	MONDO_0009517	[Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation.]