Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Paramyxoviridae infectious disease	EFO_0007419	[A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Paramyxoviridae viruses., Infections with viruses of the family paramyxoviridae. This includes morbillivirus infections; respirovirus infections; pneumovirus infections; henipavirus infections; avulavirus infections; and rubulavirus infections.]
autoimmune thrombocytopenic purpura	EFO_0007160	[An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin., A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies.]
autoimmune thrombocytopenia	MONDO_0019098	[An autoimmune form of thrombocytopenia.]
inherited blood coagulation disorder	MONDO_0021181	[Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation.]
inherited thrombocytopenia	MONDO_0100241	[An instance of thrombocytopenia that is inherited.]
thrombocytopenic purpura	MONDO_0043768	[Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors.]
primary thrombocytopenia	MONDO_0004680
platelet	CL_0000233	[A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation.]
Bell's palsy	EFO_0007167	[Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur., A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve).]
Craniosynostosis - cataract	Orphanet_1530
Genetic cranial malformation	Orphanet_183542
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	MONDO_0008729	[Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.]
46,XX disorder of sex development induced by fetal androgens excess	MONDO_0019593
bartonellosis	EFO_0007166	[An infectious disease produced by bacteria of the genus Bartonella., A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella.]
primary Bartonellaceae infectious disease	EFO_1001125	[Infections with bacteria of the family bartonellaceae., Infections with bacteria of the family BARTONELLACEAE.]
classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	MONDO_0008728	[The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia.]
female infertility	EFO_0008560	[Diminished or absent ability of a female to achieve conception., Diminished or absent ability of a female to achieve conception. [ MeSH:D007247 ]]
genetic infertility	MONDO_0017143	[Genetic infertility.]
Barre-Lieou syndrome	EFO_0007165	[A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers., A neurologic syndrome following injury of the spinal sympathetic nerves of the neck. The injury usually results from arthritis or pinching by the adjacent vertebrae. Symptoms include facial pain, chronic allergies, dizziness, neck pain, ear pain and vertigo.]
spinal injury	MONDO_0037747	[A injury that involves the vertebral column.]