Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Renal insufficiency	HP_0000083	[A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.]
Disease with diffuse palmoplantar keratoderma as a major feature	Orphanet_307711
Horseshoe kidney	HP_0000085	[A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.]
familial atrial fibrillation	MONDO_0018054	[An autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular.]
atrial fibrillation	EFO_0000275	[Abnormal cardiac rhythm that is characterized by rapid, uncoordinated firing of electrical impulses in the upper chambers of the heart (HEART ATRIA). In such case, blood cannot be effectively pumped into the lower chambers of the heart (HEART VENTRICLES). It is caused by abnormal impulse generation., A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC)]
tibial aplasia-ectrodactyly syndrome	MONDO_0018050	[Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.]
trichothiodystrophy	MONDO_0018053	[Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins).]
syndromic hair shaft abnormality	MONDO_0019282
hypoplastic tibiae-postaxial polydactyly syndrome	MONDO_0018052	[Hypoplastic tibia-polydactyly syndrome is a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands.]
tibia, hypoplasia or aplasia of, with polydactyly	MONDO_0008572
Tomato spotted wilt virus	NCBITaxon_11613
Junin virus	NCBITaxon_11619
obsolete_pure or complex autosomal dominant spastic paraplegia	Orphanet_320342
2-hydroxybutyric acid	CHEBI_1148	[A hydroxybutyric acid having a single hydroxyl group located at position 2; urinary secretion of 2-hydroxybutyric acid is increased with alcohol ingestion or vigorous physical exercise and is associated with lactic acidosis and ketoacidosis in humans and diabetes in animals.]
obsolete_pure or complex autosomal recessive spastic paraplegia	Orphanet_320346
ND00259	CLO_0026349	[POPULATION/CONVENIENCE CONTROL]
GM17226	CLO_0014356	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
GM17227	CLO_0014358	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
GM17228	CLO_0014359	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50]
benign neoplasm of choroid	MONDO_0021487	[A benign neoplasm that involves the optic choroid.]