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All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections." }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "AML", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "AML - acute myeloid leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "AML - acute myeloid leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "ANLL", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute Nonlymphocytic leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute Nonlymphocytic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute granulocytic leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute granulocytic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloblastic leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloblastic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myelocytic leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myelocytic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myelogenous leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myelogenous leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myelogenous leukemias", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloid leukaemia (AML)", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloid leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloid leukemia (AML)", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloid leukemia, somatic", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute nonlymphocytic leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute nonlymphocytic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "hematopoeitic - acute Myleogenous leukaemia (AML)", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "hematopoeitic - acute Myleogenous leukemia (AML)", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myeloid, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myeloid, reduced survival in, somatic", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myeloid, somatic", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myeloid, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, myelocytic, acute", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "myeloid leukemia, acute", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "myeloid leukemia, acute, M4/M4Eo subtype, somatic", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute non lymphoblastic leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute non lymphoblastic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myelogenous", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myeloid", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myeloid, susceptibility to", "description": "" }, { "id": "MIM:601626", "resource": "MIM", "url": "https://www.omim.org/entry/601626", "name": "Leukemia, acute myelogenous", "description": "Leukemia, acute myelogenous" } ] }, { "disease_id": "DOID:684", "recommended_name": { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver." }, "synonyms": [ { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "Hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "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." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "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." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MIM:114550", "resource": "MIM", "url": "https://www.omim.org/entry/114550", "name": "Hepatocellular carcinoma", "description": "Hepatocellular carcinoma" } ] }, { "disease_id": "DOID:3012", "recommended_name": { "id": "DOID:3012", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3012", "name": "Li-Fraumeni syndrome", "description": "A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata." }, "synonyms": [ { "id": "DOID:3012", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3012", "name": "SBLA syndrome", "description": "" }, { "id": "DOID:3012", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3012", "name": "sarcoma, breast, leukaemia and adrenal gland syndrome", "description": "" }, { "id": "DOID:3012", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3012", "name": "Li-Fraumeni Familiar cancer Susceptibility syndrome", "description": "" }, { "id": "DOID:3012", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3012", "name": "LFS", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "A rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC)." }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familial cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familiar cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome caused by mutation in TP53", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "TP53 Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukaemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS1", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS3", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni-like syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of 51 and Fraumeni", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of Li and Fraumeni", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "A rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC)." }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familial cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familiar cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome caused by mutation in TP53", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "TP53 Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukaemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS1", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS3", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni-like syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of 51 and Fraumeni", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of Li and Fraumeni", "description": "" }, { "id": "MIM:151623", "resource": "MIM", "url": "https://www.omim.org/entry/151623", "name": "Li-Fraumeni syndrome", "description": "Li-Fraumeni syndrome" } ] }, { "disease_id": "DOID:0111503", "recommended_name": { "id": "DOID:0111503", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111503", "name": "Li-Fraumeni syndrome 1", "description": "A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1." }, "synonyms": [ { "id": "DOID:0111503", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111503", "name": "LFS1", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "A rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC)." }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familial cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familiar cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome caused by mutation in TP53", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "TP53 Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukaemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS1", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS3", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni-like syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of 51 and Fraumeni", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of Li and Fraumeni", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "A rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC)." }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familial cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familiar cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome caused by mutation in TP53", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "TP53 Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukaemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS1", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS3", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni-like syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of 51 and Fraumeni", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of Li and Fraumeni", "description": "" }, { "id": "MIM:151623", "resource": "MIM", "url": "https://www.omim.org/entry/151623", "name": "Li-Fraumeni syndrome", "description": "Li-Fraumeni syndrome" } ] }, { "disease_id": "DOID:0050902", "recommended_name": { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "medulloblastoma", "description": "An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor." }, "synonyms": [ { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "CNS PNET", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "CPNET", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "brain medulloblastoma", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "infratentorial primitive neuroectodermal tumor", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "localized primitive neuroectodermal tumor", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "Medulloblastoma, histologically defined", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma", "description": "A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity." }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "brain medulloblastoma", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "cerebellar medulloblastoma", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "cerebellum embryonal neoplasm", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, malignant", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, somatic", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastomas", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "CNS PNET", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "CPNET", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "MDB", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "infratentorial primitive neuroectodermal tumor", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "infratentorial primitive neuroectodermal tumour", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "localised primitive neuroectodermal tumour", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "localized primitive neuroectodermal tumor", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma with extensive nodularity", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, desmoplastic", "description": "" }, { "id": "MIM:155255", "resource": "MIM", "url": "https://www.omim.org/entry/155255", "name": "Medulloblastoma", "description": "Medulloblastoma" } ] }, { "disease_id": "DOID:5409", "recommended_name": { "id": "DOID:5409", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell lung carcinoma", "description": "Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure." }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "SCLC", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "oat cell carcinoma", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "oat cell carcinoma (morphologic abnormality)", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "poorly differentiated endocrine neoplasm", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "Small cell lung cancer", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "lung oat cell carcinoma", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "lung small cell carcinoma", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "lung small cell neuroendocrine carcinoma", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "oat cell carcinoma of lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "oat cell carcinoma of the lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "oat cell lung carcinoma", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell cancer of the lung, somatic", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell carcinoma of lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell carcinoma of the lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell lung cancer", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell neuroendocrine carcinoma of lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell neuroendocrine carcinoma of the lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small-cell cancer of lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "SCLC1", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell cancer of the lung", "description": "" } ] }, { "disease_id": "DOID:5520", "recommended_name": { "id": "DOID:5520", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck." }, "synonyms": [ { "id": "DOID:5520", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5520", "name": 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