Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Lymphoepithelioma-Like Lung Carcinoma	EFO_1000340	[A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration.]
Lymphomatoid Papulosis	EFO_1000341	[A chronic, recurrent cutaneous disorder characterized by the presence of spontaneously regressing papules. The papules are composed of an atypical lymphocytic infiltrate that contains anaplastic CD30-positive T-cells, which are found in type A and diffuse large cell type (type C) lymphomatoid papulosis. In a small number of cases, of type B, the lymphocytic infiltrate is composed of small, cerebriform-like lymphocytes that are often negative for CD30. The majority of cases follow a benign clinical course, but some cases are clonal and may progress to lymphoma. Treatment options include low dose methotrexate and psoralen/UVA (PUVA).]
obsolete_X-linked mendelian susceptibility to mycobacterial diseases	Orphanet_319605	[) genes. They are characterized by mycobacterial infections, occuring in males.]
Malignant Adrenal Gland Pheochromocytoma	EFO_1000348	[A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity.]
adrenal gland pheochromocytoma	EFO_0000239	[A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present.]
adrenal medulla carcinoma	MONDO_0004202	[A carcinoma that arises from epithelial cells of the adrenal medulla]
neuroendocrine carcinoma	MONDO_0002120	[A malignant neuroendocrine neoplasm composed of cells containing secretory granules that stain positive for NSE and chromogranin. The neoplastic cells are often round and form clusters or trabecular sheets. Representative examples are small cell carcinoma, large cell neuroendocrine carcinoma, and Merkel cell carcinoma.]
central nervous system cancer	EFO_0000326	[A malignant neoplasm involving the central nervous system]
Malignant Bladder Paraganglioma	EFO_1000349	[An extra-adrenal sympathetic paraganglioma of the bladder that metastasizes to other anatomic sites.]
extra-adrenal sympathetic paraganglioma	EFO_0000489	[A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas., A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas.]
minimal pigment oculocutaneous albinism type 1	MONDO_0018136	[Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi.]
obsolete ocular albinism with congenital sensorineural hearing loss	MONDO_0018138
temperature-sensitive oculocutaneous albinism type 1	MONDO_0018137	[Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas).]
Enterococcus faecalis V583	NCBITaxon_226185
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion	MONDO_0018131
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome	MONDO_0018681
disorder of melanin metabolism	MONDO_0018134
Bacteroides thetaiotaomicron VPI-5482	NCBITaxon_226186
attenuated Chédiak-Higashi syndrome	MONDO_0018133	[Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.]
pharyngeal muscle	UBERON_0000933	[A muscle that acts on the pharynx[WP, vetted].]