Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
rhabdomyoma	MONDO_0036688	[A benign mesenchymal tumor arising from skeletal or cardiac muscle.]
optic atrophy 12	MONDO_0033549
myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies	MONDO_0033548
Li-Ghorbani-Weisz-Hubshman syndrome	MONDO_0033547
Cerebellar Liponeurocytoma	EFO_1000159	[A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)]
neuronal tumor	MONDO_0016726
Central Nervous System Lymphoma	EFO_1000157	[A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis.]
primary organ-specific lymphoma	MONDO_0017207
Central Nervous System Neoplasm	EFO_1000158	[A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia.]
Cecum Villous Adenoma	EFO_1000155	[A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features.]
villous adenoma of colon	MONDO_0021271	[A villous adenoma that involves the colon.]
Central Nervous System Anaplastic Large Cell Lymphoma	EFO_1000156	[An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord.]
anaplastic large cell lymphoma	EFO_0003032	[Anaplastic large cell lymphoma (ALCL) is a rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL.]
central nervous system non-hodgkin lymphoma	MONDO_0044887	[A non-Hodgkin lymphoma that arises from the central nervous system.]
obsolete_cecum adenocarcinoma	EFO_1000153
Cecum Neuroendocrine Tumor G1	EFO_1000154	[A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.]
retinal cell cancer	MONDO_0004338
obsolete_Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	Orphanet_177901
obsolete_central polydactyly of fingers, unilateral	Orphanet_295171
obsolete_Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	Orphanet_177904