Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_thoracomelic dysplasia	Orphanet_1803
Dyssegmental dysplasia - glaucoma	Orphanet_1804
Genetic developmental defect of the eye	Orphanet_183557
Epstein Barr viral capsid antigen seropositivity	EFO_0009272	[The result of a measurement of circulating Epstein Barr viral capsid antigen antibodies used in the diagnosis of Epstein-Barr virus infection]
bilirubin encephalopathy	MONDO_0018477
inborn disorder of bilirubin metabolism	MONDO_0017755	[An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome.]
anti-Epstein Barr virus antibody measurement	EFO_0009273	[Quantification of one or more antibodies to the Epstein-Barr virus, typically in serum]
antibody measurement	EFO_0004556	[Is the quantification of some antibody]
Global brain atrophy	HP_0002283	[Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.]
Brain atrophy	HP_0012444	[Partial or complete wasting (loss) of brain tissue that was once present.]
Epstein Barr viral capsid antigen IgG measurement	EFO_0009274	[Quantification of antibodies to the Epstein-Barr virus viral capsid antigen, typically in serum.]
congenital adrenal hyperplasia	MONDO_0018479	[Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease.]
adrenogenital syndrome	MONDO_0015898	[Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children.]
genetic endocrine growth disease	MONDO_0015514
chronic primary adrenal insufficiency	MONDO_0015129	[A chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.]
premature cardiac contractions	EFO_0009275	[A type of cardiac arrythmia with ventricular or atrial contractions that are initiated early by an ectopic site (outside of the sinoatrial node).]
cardiac arrhythmia	EFO_0004269	[Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction.]
Enlarged cisterna magna	HP_0002280	[Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata.]
Abnormal posterior cranial fossa morphology	HP_0000932	[An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum.]
hyperlipoproteinemia type 3	MONDO_0018473	[Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease.]