Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
brachydactyly type A5	MONDO_0019678	[Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb.]
X-12092 measurement	EFO_0021284	[Quantification of the amount of X-12092 in a sample.]
brachydactyly type E	MONDO_0019677	[Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.]
X-12063 measurement	EFO_0021283	[Quantification of the amount of X-12063 in a sample.]
fibular hemimelia	MONDO_0019672	[Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone.]
radial hemimelia	MONDO_0019671	[Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius.]
postaxial polydactyly type B	MONDO_0019674
postaxial polydactyly	MONDO_0020927
obsolete uniparental disomy of chromosome X	MONDO_0017011
X-12039 measurement	EFO_0021280	[Quantification of the amount of X-12039 in a sample.]
ulnar hemimelia	MONDO_0019670	[Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone.]
obsolete_Huntington disease	Orphanet_399	[Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.]
obsolete_primary non-essential cutis verticis gyrata	Orphanet_357225
hand-foot-genital syndrome	MONDO_0007698	[Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.]
obsolete chemically-induced disorder	MONDO_0029001	[OBSOLETE. Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as pharmaceutical preparations; noxae; and pesticides.]
Morvan syndrome	EFO_1001897	[Morvan syndrome is a rare autoimmune/paraneoplastic disorder involving antibodies to the voltage-gated potassium channel complex. It is defined by subacute encephalopathy, neuromuscular hyperexcitability, dysautonomia, and sleep disturbance. [PMID:27224435], Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.]
obsolete_homocystinuria due to methylene tetrahydrofolate reductase deficiency	Orphanet_395
Emery-Nelson syndrome	MONDO_0007696
lateral epicondylitis	EFO_1001896	[inflammation of the lateral epicondyle.]
epicondylitis	EFO_1001887	[Inflammation of the epicondyles., Inflammation of the lateral epicondyle.]