Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_diazoxide-sensitive diffuse hyperinsulinism	Orphanet_165985
Desmoplastic Ameloblastoma	EFO_1000215	[An ameloblastoma with prominent desmoplastic stroma that causes compression of the neoplastic epithelial islands.]
Cutaneous Undifferentiated Pleomorphic Sarcoma	EFO_1000212	[An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm.]
Smith-Magenis syndrome	MONDO_0008434	[Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.]
chromosome 17p deletion	MONDO_0022754	[A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17.]
obsolete_combined oxidative phosphorylation defect type 13	Orphanet_319514
Cystic Nephroma	EFO_1000213	[A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid.]
obsolete_diazoxide-resistant diffuse hyperinsulinism	Orphanet_165988
Cribriform Carcinoma	EFO_1000210	[A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma.]
Cutaneous Follicular Lymphoma	EFO_1000211	[A follicular lymphoma involving the skin. A cutaneous follicular lymphoma may be metastatic to the skin from the lymph nodes or other anatomic sites or primary (cutaneous follicle center lymphoma). --2003]
Digestive System Mixed Adenoneuroendocrine Carcinoma	EFO_1000219	[A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made.]
Diffuse Melanocytosis	EFO_1000216	[A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)]
rate	PATO_0000161	[A quality of a single process inhering in a bearer by virtue of the bearer's occurrence per unit time.]
Cocksfoot streak virus	NCBITaxon_192452
polyp of gallbladder	MONDO_0021416	[A polyp that involves the gall bladder.]
spheroid body myopathy	MONDO_0008448	[Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations.]
myofibrillar myopathy 3	MONDO_0012215	[A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.]
Duodenal Villous Adenoma	EFO_1000225	[A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features.]
Dysplasia in Ulcerative Colitis	EFO_1000226	[A morphologic finding indicating the presence of dysplastic epithelial changes in a large intestinal tissue sample that is affected by ulcerative colitis.]
stomach neoplasm	EFO_0003897	[Tumors or cancer of the STOMACH., A benign or malignant neoplasm involving the stomach.]