Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
non-HDL cholesterol:HDL cholesterol ratio	EFO_0007931	[quantification of the ratio of non-HDL cholesterol to HDL cholesterol in a sample]
isobutyryl-CoA dehydrogenase deficiency	MONDO_0012648	[An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).]
coronary atherosclerosis measurement	EFO_0007938	[Quantification of coronary atherosclerosis as the number of diseased coronary vessels at the time of a catheterization procedure. The variable describes the number (0–3) of vessels with significant (> 75%) blockage while taking into account the location of the vessels as well as the left or right dominance of the patient]
disease prognosis measurement	EFO_0007936	[quantification of some aspect of disease prognosis]
obsolete_X-linked intellectual disability, Kroes type	Orphanet_163961
urinary uric acid to creatinine ratio	EFO_0007935	[quantification of the ratio of uric acid to creatinine in a urine sample]
macular coloboma-cleft palate-hallux valgus syndrome	MONDO_0009001	[Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.]
constriction rings syndrome	MONDO_0009011	[Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.]
amniotic band syndrome	MONDO_0015167	[Amniotic band syndrome (ABS) describes a group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies.]
caerulein	CHEBI_59219	[A decapeptide comprising 5-oxoprolyl, glutamyl, aspartyl, O-sulfotyrosyl, threonyl, glycyl, tryptopyl, methionyl, aspartyl and phenylalaninamide residues in sequence. Found in the skins of certain Australian amphibians, it is an analogue of the gastrointestinal peptide hormone cholecystokinin and stimulates gastric, biliary, and pancreatic secretion. It is used in cases of paralysis of the intestine (paralytic ileus) and as a diagnostic aid in pancreatic malfunction.]
spastic ataxia 3	MONDO_0012664	[Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene.]
Usher syndrome type 2D	MONDO_0012662	[Any Usher syndrome in which the cause of the disease is a mutation in the WHRN gene.]
ectodermal dysplasia-blindness syndrome	MONDO_0010001	[Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait.]
EEC syndrome	MONDO_0010004	[EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).]
secondary entropion	MONDO_0020160
EEC syndrome and related syndrome	MONDO_0020197
Sandhoff disease	MONDO_0010006	[Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration.]
cataract 33	MONDO_0012665	[Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene.]
saccharopinuria	MONDO_0010005	[Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.]
optic tract astrocytoma	MONDO_0024649	[An astrocytoma that affects the optic tract. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group.]