Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
gallbladder cancer	MONDO_0005411	[A malignant neoplasm involving the gall bladder]
erythroleukemia	EFO_1001955	[Acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow.]
Epstein-Barr virus-related Burkitts lymphoma	EFO_1001954	[Burkitt lymphoma can be classified into three forms which differ in geographic distribution and Epstein–Barr virus (EBV) association: endemic, sporadic and HIV‐associated. Endemic Burkitt lymphoma is associated with EBV in over 95% of cases and is predominant in the equatorial belt of Africa and other parts of the world where malaria is hyperendemic.]
obsolete_hemoglobin H disease	Orphanet_93616
biceps brachii	UBERON_0001507	[A muscle in the forelimb stylopod which in humans has several functions, the most important being to rotate the forearm and to flex the elbow. [WP,unvetted].]
obsolete_fucosidosis	Orphanet_349
obsolete_fructose-1,6-bisphosphatase deficiency	Orphanet_348
Hematological disorder with renal involvement	Orphanet_93614
obsolete_Frasier syndrome	Orphanet_347
obsolete_cystinuria type B	Orphanet_93613
obsolete_cystinuria type A	Orphanet_93612
Distal renal tubular acidosis with anemia	Orphanet_93610	[Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA; see this term) characterized by a defect in renal acidification and hereditary hemolytic anemia.]
obsolete_hyperimmunoglobulinemia D with periodic fever	Orphanet_343
obsolete_familial Mediterranean fever	Orphanet_342
pancreatic somatostatinoma	EFO_1001964	[A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss.]
ovarian mucinous cystadenocarcinoma	EFO_1001963	[An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis.]
ovarian mucinous adenocarcinoma	EFO_0006462	[An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations.]
intrahepatic bile duct cancer	MONDO_0001487	[A cancer that involves the intrahepatic bile duct.]
hypopharyngeal squamous cell carcinoma	EFO_1001960	[A squamous cell carcinoma that involves the hypopharynx.]
squamous cell breast carcinoma, acantholytic variant	EFO_1001969	[A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern.]