Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Arenavirus hemorrhagic fever	EFO_0007151	[A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus.]
Arenaviridae infectious disease	EFO_0007150	[Virus diseases caused by the arenaviridae., A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses.]
transforming growth factor-beta measurement	EFO_0010799	[Quantification of the amount of transforming growth factor-beta in a sample]
obsolete_qualitative or quantitative defects of titin	Orphanet_209053
obsolete_Jackson-Weiss syndrome	Orphanet_1540
age of onset of glioblastoma	OBA_2040157	[The age at which glioblastoma manifestations first appear.]
Craniosynostosis, Boston type	Orphanet_1541	[Craniosynostosis, Boston type (CSB) is a rare syndromic craniosynostosis chiefly characterized by forehead retrusion, frontal bossing, turribrachycephaly, and cloverleaf skull with no apparent hand or foot abnormalities.]
ascaridiasis	EFO_0007155	[A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia., Infection with nematodes of the genus ascaridia. This condition usually occurs in fowl, often manifesting diarrhea.]
age of onset of systemic lupus erythematosus	OBA_2040158	[The age at which systemic lupus erythematosus manifestations first appear.]
ascariasis	EFO_0007154	[An infection that is caused by the roundworm Ascaris lumbricoides, many cases of which remain asymptomatic. During the transient larval migratory phase, shortness of breath, fever, and eosinophilia can occur. Depending on the intestinal worm burden, a spectrum of gastrointestinal tract symptoms can occur., A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation.]
asbestosis	EFO_0007153	[A pneumoconiosis caused by inhalation and retention of asbestos fibers., A lung disorder caused by inhalation of asbestos fibers. It results in fibrosis of the lung parenchyma. Signs and symptoms include coughing, shortness of breath and chest pain.]
congenital afibrinogenemia	MONDO_0008737	[Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.]
familial dysfibrinogenemia	MONDO_0014452	[Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.]
atrophic rhinitis	EFO_0007159	[A rhinitis which involves inflammation of the nose characterised by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues., A chronic inflammation in which the nasal mucosa gradually changes from a functional to a non-functional lining without mucociliary clearance. It is often accompanied by degradation of the bony turbinates, and the foul-smelling mucus which forms a greenish crust (ozena).]
Astroviridae infectious disease	EFO_0007158	[Infections with astrovirus, causing gastroenteritis in human infants, calves, lambs, and piglets., A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Astroviridae viruses.]
adrenocortical carcinoma, hereditary	MONDO_0008734	[An instance of adrenal cortex carcinoma that is caused by an inherited modification of the individual's genome.]
Cryptorchidism - arachnodactyly - intellectual disability	Orphanet_1548
familial glucocorticoid deficiency	MONDO_0008733	[Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency.]
familial adrenal hypoplasia with absent pituitary luteinizing hormone	MONDO_0008731
46,XY disorder of sex development	MONDO_0020040	[Differences of sex development in individuals with 46,XY karyotype.]