Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Cluster headache	HP_0012199	[A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs.]
radiculitis	MONDO_0021765	[An inflammatory process affecting a nerve root. Patients experience pain radiating along a nerve path because of spinal pressure on the nerve root that connects to the nerve path.]
Liver Inflammatory Myofibroblastic Tumor	EFO_1000324	[A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.]
liver neoplasm	EFO_1001513	[A benign or malignant epithelial neoplasm that affects the liver parenchyma and intrahepatic bile ducts. Representative examples of benign epithelial neoplasms include hepatocellular adenoma and intrahepatic bile duct adenoma. Representative examples of malignant epithelial neoplasms include hepatocellular carcinoma and intrahepatic cholangiocarcinoma., Tumors or cancers of the LIVER.]
IRIDA syndrome	MONDO_0008788	[IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.]
Liver Neuroendocrine Tumor	EFO_1000325	[An extremely rare, usually solitary, well-differentiated neuroendocrine tumor (carcinoid tumor) arising from the liver. There is mild nuclear atypia and low mitotic activity present. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation. The vast majority of carcinoid tumors found in the liver represent metastases from other anatomic sites.]
microcytic anemia with liver iron overload	MONDO_0008787	[Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients.]
anemia, hypochromic microcytic with iron overload	MONDO_0000104
Liver Cavernous Hemangioma	EFO_1000322	[A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females.]
Liver Diffuse Large B-Cell Lymphoma	EFO_1000323	[A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver.]
hepatocellular carcinoma	EFO_0000182	[A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation.]
liver lymphoma	MONDO_0004695	[A rare lymphoma that arises from the liver and the bulk of the tumor is located in the liver. The most frequent types of lymphoma that arise from the liver are diffuse large B-cell lymphoma and mucosa-associated lymphoid tissue lymphoma.]
lymphocyte of B lineage	CL_0000945	[A lymphocyte of B lineage with the commitment to express an immunoglobulin complex.]
obsolete_X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency	Orphanet_319623
Laryngeal Small Cell Carcinoma	EFO_1000320	[A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course.]
laryngeal neuroendocrine neoplasm	MONDO_0015070	[A benign or malignant neoplasm with neuroendocrine differentiation that arises from the larynx. This category includes paraganglioma, carcinoid tumor, small cell carcinoma, and large cell neuroendocrine carcinoma.]
head and neck carcinoma	MONDO_0002038	[A carcinoma that arises from the head and neck region. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.]
Leydig Cell Tumor	EFO_1000321	[A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course.]
sex cord-stromal tumor	EFO_1000052	[A neoplasm involving a sex cord., A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis.]
Tangier disease	MONDO_0008783	[Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.]