{ "id": 19795, "label": "acute biphenotypic leukemia", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0020322", "properties": { "xrefs": [ "DOID:9953", "EFO:1000828", "GARD:0025156", "ICD9:207.80", "ICDO:9805/3", "MEDGEN:7318", "MESH:D015456", "MedDRA:10067399", "NCIT:C4673", "Orphanet:98837", "SCTID:278453007", "UMLS:C0023464" ], "synonyms": [ "B- and T-cell mixed leukaemia", "B- and T-cell mixed leukemia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001)" }, "isLeaf": false, "isRoot": false, "child_count": 4, "parents": [ { "id": 6710, "label": "acute lymphoblastic leukemia", "isLeaf": false, "isRoot": false, "parents": [ 5444, 6890, 7079, 11789, 18836 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9952", "EFO:0000220", "GARD:0000522", "HP:0006721", "ICD10CM:C91.0", "ICD9:204", "ICD9:204.0", "ICD9:204.00", "ICD9:204.9", "ICDO:9835/3", "MEDGEN:7317", "NCIT:C3167", "Orphanet:513", "SCTID:91857003", "UMLS:C0023449" ], "synonyms": [ "lymphoblastic leukaemia", "lymphoblastic leukemia", "ALL", "ALL - acute lymphocytic leukaemia", "ALL - acute lymphocytic leukemia", "acute lymphoblastic leukaemia (ALL)", "acute lymphoblastic leukaemia (disease)", "acute lymphoblastic leukemia", "acute lymphoblastic leukemia (ALL)", "acute lymphoblastic leukemia (disease)", "acute lymphoblastic leukemia/lymphoma", "acute lymphocytic leukaemia", "acute lymphocytic leukemia", "acute lymphocytic leukemias", "acute lymphogenous leukaemia", "acute lymphogenous leukemia", "acute lymphoid leukaemia", "acute lymphoid leukemia", "leukemia, lymphoblastic, malignant", "lymphoblastic leukemia, acute", "precursor Lymphoblasic leukaemia", "precursor Lymphoblasic leukemia", "precursor cell lymphoblastic leukaemia", "precursor cell lymphoblastic leukemia", "precursor lymphoblastic leukaemia", "precursor lymphoblastic leukemia" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia." }, "child_count": 60, "reference_id": "MONDO:0004967" }, { "id": 18035, "label": "primary bone lymphoma", "isLeaf": false, "isRoot": false, "parents": [ 4262, 17548 ], "type_id": 0, "properties": { "xrefs": [ "DOID:6759", "GARD:0021385", "MEDGEN:231451", "NCIT:C6620", "Orphanet:314684", "SCTID:766935007", "UMLS:C1332582" ], "synonyms": [ "bone tissue lymphoma", "lymphoma of bone tissue", "primary lymphoma of bone", "primary lymphoma of the bone", "bone lymphoma" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most commonly affected sites. The majority of patients present with bone pain in the affected area. A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease." }, "child_count": 6, "reference_id": "MONDO:0017814" }, { "id": 20146, "label": "mixed phenotype acute leukemia", "isLeaf": false, "isRoot": false, "parents": [ 19285 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017972", "MEDGEN:417342", "MedDRA:10067399", "NANDO:2200018", "NCIT:C82179", "Orphanet:530995", "UMLS:C2826025" ], "synonyms": [ "MPAL", "mixed phenotype acute leukemia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage." }, "child_count": 3, "reference_id": "MONDO:0020743" } ], "children": [ { "id": 25225, "label": "mixed phenotype acute leukemia with BCR-ABL1", "isLeaf": true, "isRoot": false, "parents": [ 19795 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081036", "GARD:0026617" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR." }, "child_count": 0, "reference_id": "MONDO:0850449" }, { "id": 25226, "label": "mixed phenotype acute leukemia with MLL rearranged", "isLeaf": true, "isRoot": false, "parents": [ 19795 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081037", "GARD:0026618" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "An acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner." }, "child_count": 0, "reference_id": "MONDO:0850450" }, { "id": 25227, "label": "mixed phenotype acute leukemia, B/myeloid", "isLeaf": true, "isRoot": false, "parents": [ 19795 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081038", "GARD:0026619", "MEDGEN:501146", "NCIT:C82212", "UMLS:C3472616" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "An acute biphenotypic leukemia that is characterized by blasts which express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation." }, "child_count": 0, "reference_id": "MONDO:0850451" }, { "id": 25228, "label": "mixed phenotype acute leukemia,T/myeloid", "isLeaf": true, "isRoot": false, "parents": [ 19795 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081039", "GARD:0026620", "NCIT:C82213" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "An acute biphenotypic leukemia that is characterized by blasts that express antigens of both T and myeloid antigens." }, "child_count": 0, "reference_id": "MONDO:0850452" } ], "roots": [ { "id": 6710, "label": "acute lymphoblastic leukemia" }, { "id": 18035, "label": "primary bone lymphoma" }, { "id": 20146, "label": "mixed phenotype acute leukemia" } ] }