Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
deoxycholate measurement	EFO_0010475	[Quantification of chenodeoxycholate levels in a sample.]
diabetic eye disease	EFO_0009486	[A group of disorders affecting the eye in patients with diabetes mellitus. It includes cataract, glaucoma, retinopathy, and blindness. [ NCI ]]
creatine measurement	EFO_0010472	[Quantification of creatine levels in a sample.]
nerve compression syndrome	EFO_0009487	[Any nerve disorder caused by the entrapment and compression of a nerve., Any nerve disorder caused by the entrapment and compression of a nerve. [ NCIT ]]
biliary atresia	MONDO_0008867	[A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool.]
non-syndromic visceral malformation	MONDO_0015213
spinal cord disease	EFO_0009488	[A disease involving the spinal cord.]
cyclic adenosine monophosphate measurement	EFO_0010473	[Quantification of cyclic adenosine monophosphate levels in a sample.]
carnosine measurement	EFO_0010470	[Quantification of carnosine levels in a sample.]
Bietti crystalline corneoretinal dystrophy	MONDO_0008865	[Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.]
familial flecked retinopathy	MONDO_0016420
chenodeoxycholate measurement	EFO_0010471	[Quantification of chenodeoxycholate levels in a sample.]
Biemond syndrome type 2	MONDO_0008864	[Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997.]
sitosterolemia	MONDO_0008863	[A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.]
soft tissue disease	EFO_0009470	[A disease affecting tissues that connect, support, or surround other structures and organs of the body, not being hard tissue such as bone. Soft tissue includes tendons, ligaments, fascia, skin, fibrous tissues, fat, and synovial membranes (which are connective tissue), and muscles, nerves and blood vessels (which are not connective tissue).]
mouth	UBERON_0000165	[The proximal portion of the digestive tract, containing the oral cavity and bounded by the oral opening. In vertebrates, this extends to the pharynx and includes gums, lips, tongue and parts of the palate. Typically also includes the teeth, except where these occur elsewhere (e.g. pharyngeal jaws) or protrude from the mouth (tusks).]
small kidney	EFO_0009471	[Reduced physical bulk of one or both of the organs responsible for urine secretion.]
Abnormality of the kidney	HP_0000077	[An abnormality of the kidney.]
tympanic membrane perforation	EFO_0009472	[Presence of a hole or tear in the tympanic membrane (eardrum).]
hemolysis	EFO_0009473	[Disruption of the integrity of the erythrocyte membrane causing release of hemoglobin. [ NCI ]]