{ "id": 18806, "label": "acute myeloid leukemia", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0018874", "properties": { "xrefs": [ "DOID:9119", "EFO:0000222", "GARD:0012757", "ICD10CM:C92.0", "ICD9:205.0", "ICD9:205.00", "ICDO:9861/3", "MEDGEN:9730", "MESH:D015470", "MedDRA:10000880", "NCIT:C3171", "NORD:1905", "OMIM:601626", "ONCOTREE:AML", "Orphanet:519", "SCTID:91861009", "UMLS:C0023467" ], "synonyms": [ "AML", "AML - acute myeloid leukaemia", "AML - acute myeloid leukemia", "ANLL", "acute Nonlymphocytic leukaemia", "acute Nonlymphocytic leukemia", "acute granulocytic leukaemia", "acute granulocytic leukemia", "acute myeloblastic leukemia", "acute myelocytic leukaemia", "acute myelocytic leukemia", "acute myelogenous leukemia", "acute myelogenous leukemias", "acute myeloid leukaemia (AML)", "acute myeloid leukemia", "acute myeloid leukemia (AML)", "acute myeloid leukemia, somatic", "acute nonlymphocytic leukaemia", "acute nonlymphocytic leukemia", "hematopoeitic - acute Myleogenous leukaemia (AML)", "hematopoeitic - acute Myleogenous leukemia (AML)", "leukemia, acute myeloid, autosomal dominant, somatic mutation", "leukemia, acute myeloid, reduced survival in, somatic", "leukemia, acute myeloid, somatic", "leukemia, acute myeloid, susceptibility to, autosomal dominant, somatic mutation", "leukemia, myelocytic, acute", "myeloid leukemia, acute", "myeloid leukemia, acute, M4/M4Eo subtype, somatic", "acute non lymphoblastic leukaemia", "acute non lymphoblastic leukemia", "leukemia, acute myelogenous", "leukemia, acute myeloid", "leukemia, acute myeloid, susceptibility to" ], "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": "Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections." }, "isLeaf": false, "isRoot": false, "child_count": 78, "parents": [ { "id": 6429, "label": "myeloid leukemia", "isLeaf": false, "isRoot": false, "parents": [ 6789, 19727 ], "type_id": 0, "properties": { "xrefs": [ "DOID:8692", "GARD:0008226", "ICD10CM:C92", "ICD9:205", "ICD9:205.80", "ICD9:205.9", "ICD9:205.90", "ICDO:9860/3", "MEDGEN:7320", "MESH:D007951", "NCIT:C3172", "SCTID:188732008", "UMLS:C0023470" ], "synonyms": [ "leukaemia granulocytic", "leukaemia myeloid", "leukemia granulocytic", "leukemia myelogenous", "leukemia myeloid", "leukemia, granulocytic, malignant", "myelocytic leukaemia", "myelocytic leukemia", "myelogenous leukaemia", "myelogenous leukemia", "myeloid leukemia", "non-lymphoblastic leukaemia", "non-lymphoblastic leukemia", "non-lymphocytic leukaemia", "non-lymphocytic 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": "A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia." }, "child_count": 8, "reference_id": "MONDO:0004643" }, { "id": 11789, "label": "acute leukemia", "isLeaf": false, "isRoot": false, "parents": [ 6789, 20092 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12603", "EFO:1000068", "GARD:0024743", "HP:0002488", "ICD9:208.0", "ICD9:208.00", "ICDO:9801/3", "MEDGEN:43225", "MESH:C564112", "NCIT:C9300", "SCTID:91855006", "UMLS:C0085669" ], "synonyms": [ "acute leukaemia (disease)", "acute leukemia", "acute leukemia (disease)", "leukemia, acute, X-linked", "stem cell leukaemia", "stem cell leukaemia (disease)", "stem cell leukemia", "stem cell leukemia (disease)" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." }, "child_count": 8, "reference_id": "MONDO:0010643" } ], "children": [ { "id": 6737, "label": "childhood acute myeloid leukemia", "isLeaf": true, "isRoot": false, "parents": [ 6169, 18806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070323", "EFO:0000330", "GARD:0008199", "ICDO:M9861/3", "MEDGEN:65075", "NCIT:C9160", "UMLS:C0220621" ], "synonyms": [ "acute myeloid leukaemia (AML)", "acute myeloid leukemia (AML)", "acute myeloid leukaemia of childhood", "acute myeloid leukemia of childhood", "childhood AML", "childhood acute granulocytic leukaemia", "childhood acute granulocytic leukemia", "childhood acute myeloblastic leukaemia", "childhood acute myeloblastic leukemia", "childhood acute myelocytic leukaemia", "childhood acute myelocytic leukemia", "childhood acute myelogenous leukaemia", "childhood acute myelogenous leukemia", "childhood acute myeloid leukemia", "paediatric AML", "paediatric acute myeloblastic leukaemia", "paediatric acute myelocytic leukaemia", "paediatric acute myelogenous leukaemia", "pediatric AML", "pediatric acute myeloblastic leukemia", "pediatric acute myelocytic leukemia", "pediatric acute myelogenous leukemia", "pediatric acute myeloid 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": "Acute myeloid leukemia occurring in childhood." }, "child_count": 0, "reference_id": "MONDO:0004996" }, { "id": 9231, "label": "acute monocytic leukemia", "isLeaf": false, "isRoot": false, "parents": [ 6392, 18806 ], "type_id": 0, "properties": { "xrefs": [ "CSP:2004-2820", "DOID:8864", "EFO:0000221", "GARD:0000525", "ICD10CM:C93.0", "ICD9:206.0", "ICDO:9891/3", "MEDGEN:7319", "MESH:D007948", "MedDRA:10000871", "MedDRA:10059439", "NANDO:2200008", "NANDO:2200009", "NCIT:C4861", "OMIM:151380", "ONCOTREE:AMOL", "Orphanet:514", "SCTID:413441006", "UMLS:C0023465", "icd11.foundation:517546180" ], "synonyms": [ "monocytic leukaemia", "monocytic leukemia", "AML M5", "acute monoblastic leukaemia and acute monocytic leukaemia", "acute monocytic leukaemia (FAB M5B)", "acute monocytic leukaemia (FAB M5b)", "acute monocytic leukemia", "acute monocytic leukemia (FAB M5B)", "acute monocytic leukemia (FAB M5b)", "acute monocytic leukemia, morphology (morphologic abnormality)", "leukemia, monocytic, malignant", "monocytic leukemia, acute", "AML-M5", "acute monoblastic leukaemia", "acute monoblastic leukemia", "acute monoblastic/monocytic leukaemia", "acute monoblastic/monocytic leukemia", "acute myeloblastic leukaemia type 5", "acute myeloblastic leukemia type 5", "leukemia, acute monocytic" ], "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": "Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11)." }, "child_count": 6, "reference_id": "MONDO:0007896" }, { "id": 16092, "label": "acute myeloid leukemia with t(8;21)(q22;q22) translocation", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019837", "MEDGEN:224862", "Orphanet:102724", "UMLS:C1292774", "icd11.foundation:1075154059" ], "synonyms": [ "AML with t(8;21)(q22;q22) translocation" ], "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" } ] }, "child_count": 0, "reference_id": "MONDO:0015166" }, { "id": 16444, "label": "acute myeloid leukemia by FAB classification", "isLeaf": false, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012760", "MEDGEN:1842303", "NCIT:C27753", "Orphanet:167714", "UMLS:C5679583" ], "synonyms": [ "acute myeloid leukaemia", "acute myeloid leukemia", "AML, NOS", "acute myeloid leukaemia NOS", "acute myeloid leukaemia not otherwise categorised", "acute myeloid leukaemia not otherwise specified", "acute myeloid leukemia NOS", "acute myeloid leukemia not otherwise categorized", "acute myeloid leukemia not otherwise specified", "acute myeloid leukemia, NOS", "unclassified AML", "unclassified acute myeloid leukaemia", "unclassified acute myeloid 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": "Acute myeloid leukemias that do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme." }, "child_count": 9, "reference_id": "MONDO:0015667" }, { "id": 18103, "label": "inherited acute myeloid leukemia", "isLeaf": false, "isRoot": false, "parents": [ 18806, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017450", "MEDGEN:1634915", "NCIT:C7175", "Orphanet:319465", "SCTID:764940002", "UMLS:C4707228" ], "synonyms": [ "Pure familial AML", "Pure familial acute myeloid leukaemia", "Pure familial acute myeloid leukemia", "familial AML", "hereditary acute myeloid leukaemia", "hereditary acute myeloid leukemia", "inherited AML" ], "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 instance of acute myeloid leukemia that is caused by an inherited modification of the individual's genome." }, "child_count": 6, "reference_id": "MONDO:0017893" }, { "id": 18104, "label": "acute myeloid leukemia with CEBPA somatic mutations", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081095", "GARD:0017451", "MEDGEN:1640289", "NCIT:C82433", "Orphanet:319480", "SCTID:764855007", "UMLS:C4707178" ], "synonyms": [ "AML with CEBPA somatic mutations", "AML with mutated CEBPA", "acute myeloid Leukaemia with mutated CEBPA", "acute myeloid Leukaemia with non-germline mutated CEBPA", "acute myeloid Leukemia with mutated CEBPA", "acute myeloid Leukemia with non-germline mutated CEBPA", "non-familial acute myeloid leukaemia with mutated CEBPA", "non-familial acute myeloid leukemia with mutated CEBPA" ], "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": "Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly)." }, "child_count": 0, "reference_id": "MONDO:0017894" }, { "id": 18377, "label": "acute myeloid leukemia with t(8;16)(p11;p13) translocation", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070630", "GARD:0021588", "MEDGEN:1376688", "NCIT:C200421", "Orphanet:370026", "SCTID:725390002", "UMLS:C4511003" ], "synonyms": [ "AML with t(8;16)(p11;p13) translocation" ], "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": "A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed." }, "child_count": 0, "reference_id": "MONDO:0018256" }, { "id": 18481, "label": "acute myeloid leukemia with t(6;9)(p23;q34)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021710", "MEDGEN:1376401", "Orphanet:402014", "UMLS:C4518837" ], "synonyms": [ "AML with t(6;9)(p23;q34)" ], "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": "Acute myeloid leukemia with t(6;9)(p23;q34) is a rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported." }, "child_count": 0, "reference_id": "MONDO:0018433" }, { "id": 18482, "label": "acute myeloid leukemia with t(9;11)(p22;q23)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021711", "MEDGEN:753997", "Orphanet:402017", "UMLS:C2919692" ], "synonyms": [ "AML with t(9;11)(p22;q23)" ], "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" } ] }, "child_count": 0, "reference_id": "MONDO:0018434" }, { "id": 18483, "label": "acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012759", "MEDGEN:415269", "NCIT:C82426", "Orphanet:402020", "UMLS:C2826172" ], "synonyms": [ "AML with inv3(p21;q26.2) or t(3;3)(p21;q26.2)", "AML with inv3(q21;q26.2) or t(3;3)(q21;q26.2)", "acute myeloid leukaemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2)", "acute myeloid leukemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2)" ], "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": "Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2) is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported." }, "child_count": 0, "reference_id": "MONDO:0018435" }, { "id": 18484, "label": "megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021712", "MEDGEN:1638466", "Orphanet:402023", "SCTID:763796007", "UMLS:C4706584" ], "synonyms": [ "megakaryoblastic AML with t(1;22)(p13;q13)" ], "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": "Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease." }, "child_count": 0, "reference_id": "MONDO:0018436" }, { "id": 18485, "label": "acute myeloid leukemia with NPM1 somatic mutations", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021713", "MEDGEN:1633725", "Orphanet:402026", "SCTID:763309005", "UMLS:C4706386" ], "synonyms": [ "AML with NPM1 somatic mutations" ], "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": "Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy." }, "child_count": 0, "reference_id": "MONDO:0018437" }, { "id": 19282, "label": "acute myeloid leukemia with multilineage dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012761", "ICD10CM:C92.A", "ICDO:9895/3", "MEDGEN:224861", "NCIT:C9289", "Orphanet:86845", "SCTID:445448008", "UMLS:C1292773", "icd11.foundation:1235412948" ], "synonyms": [ "AML with multilineage dysplasia", "AML with myelodysplasia-related features", "De novo acute myeloid leukaemia with multilineage dysplasia", "De novo acute myeloid leukemia with multilineage dysplasia", "acute myeloid leukaemia with myelodysplasia-related features", "acute myeloid leukemia with myelodysplasia-related features" ], "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 myeloid leukemia arising de novo and not as a result of treatment. It is characterized by the presence of myelodysplastic features in at least 50% of the cells of at least two hematopoietic cell lines. Patients often present with severe cytopenia." }, "child_count": 0, "reference_id": "MONDO:0019456" }, { "id": 19283, "label": "therapy related acute myeloid leukemia and myelodysplastic syndrome", "isLeaf": false, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012762", "MEDGEN:220954", "NCIT:C25765", "Orphanet:86846", "SCTID:721306009", "UMLS:C1292776", "icd11.foundation:1581599493" ], "synonyms": [ "Secondary AGL", "Secondary Acute granulocytic Leukaemia", "Secondary Acute granulocytic Leukemia", "Secondary Acute myeloblastic Leukaemia", "Secondary Acute myeloblastic Leukemia", "Secondary Acute myelocytic Leukaemia", "Secondary Acute myelocytic Leukemia", "Secondary Acute myelogenous Leukaemia", "Secondary Acute myelogenous Leukemia", "Secondary Acute myeloid Leukaemia (AML)", "Secondary Acute myeloid Leukemia (AML)", "secondary AML", "secondary acute myeloid leukaemia", "secondary acute myeloid leukemia", "therapy-related AML and myelodysplastic syndrome" ], "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 myeloid leukemia secondary to a myelodysplastic syndrome or therapy-related. (WHO, 2001)" }, "child_count": 3, "reference_id": "MONDO:0019457" }, { "id": 19285, "label": "acute leukemia of ambiguous lineage", "isLeaf": false, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008638", "MEDGEN:226983", "MedDRA:10067399", "NANDO:2200017", "NANDO:2200018", "NCIT:C7464", "Orphanet:86851", "SCTID:721308005", "UMLS:C1301357", "icd11.foundation:1062906118" ], "synonyms": [ "acute leukaemia of indeterminate lineage", "acute leukemia of ambiguous lineage", "acute leukemia of indeterminate lineage", "hybrid acute leukaemia", "hybrid acute leukemia", "mixed lineage acute leukaemia", "mixed lineage acute leukemia", "ALL with myeloid markers", "AML with lymphoid markers", "BAL", "acute leukaemia of undetermined lineage", "acute leukemia of undetermined lineage", "biphenotypic acute leukaemia", "biphenotypic acute leukemia", "mixed phenotype acute leukaemia", "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 in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001)" }, "child_count": 3, "reference_id": "MONDO:0019460" }, { "id": 19791, "label": "acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000536", "MEDGEN:1716406", "NCIT:C9287", "Orphanet:98829", "UMLS:C5395080", "icd11.foundation:808954959" ], "synonyms": [ "AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)", "AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)", "CBFB-MYH11", "acute myelomonocytic leukaemia", "acute myelomonocytic 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": "Acute myelomonocytic leukemia (AMML) is a cancer that typically develops in the bone marrow and blood of older individuals.AMML is one type of acute myeloid leukemia, a group of blood cancers that occur when the amount of white blood cells increases rapidly. Symptoms of AMML often include fatigue (due to anemia) or easy bruising or bleeding (due to thrombocytopenia). The cause of AMML is currently unknown. Treatment typically consists of chemotherapy." }, "child_count": 0, "reference_id": "MONDO:0020316" }, { "id": 19792, "label": "acute myeloid leukemia with 11q23 abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019587", "ICDO:9897/3", "MEDGEN:266234", "NCIT:C82403", "Orphanet:98831", "SCTID:444911000", "UMLS:C1292775" ], "synonyms": [ "AML with 11q23 abnormalities", "AML with t(9;11)(p22;q23); MLLT3-MLL", "acute myeloid Leukaemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A", "acute myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A", "acute myeloid leukaemia with 11q23 (MLL) abnormalities", "acute myeloid leukaemia with MLL abnormalities", "acute myeloid leukaemia with t(9;11)(p22.3;q23.3); MLLT3-KMT2A", "acute myeloid leukaemia with t(9;11)(p22;q23); MLLT3-MLL", "acute myeloid leukemia with 11q23 (MLL) abnormalities", "acute myeloid leukemia with MLL abnormalities", "acute myeloid leukemia with t(9;11)(p22.3;q23.3); MLLT3-KMT2A", "acute myeloid leukemia with t(9;11)(p22;q23); MLLT3-MLL" ], "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 myeloid leukemia associated with t(9;11)(p22.3;q23.3) and MLLT3-KMT2A fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation." }, "child_count": 0, "reference_id": "MONDO:0020317" }, { "id": 22800, "label": "acute myeloid leukemia with BCR-ABL1", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080976", "GARD:0022340", "MEDGEN:1377153", "NCIT:C129785", "Orphanet:585867", "UMLS:C4329268" ], "synonyms": [ "AML with BCR-ABL1", "AML with t(9;22)(q34.1;q11.2)", "acute myeloid leukaemia with t(9;22)(q34.1;q11.2)", "acute myeloid leukemia with t(9;22)(q34.1;q11.2)" ], "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" } ] }, "child_count": 0, "reference_id": "MONDO:0035112" }, { "id": 23482, "label": "acute myeloid leukemia with mutated NPM1", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081089", "GARD:0025924", "MEDGEN:414842", "NCIT:C82431", "ONCOTREE:AMLNPM1", "UMLS:C2826177" ], "synonyms": [ "AML with mutated NPM1", "AML, Mutation of the Nucleophosmin Gene", "AML, NPM1 Mutation", "AML, NPM1 gene mutation", "AML, Nucleophosmin Gene Mutation", "NPMc+ AML", "acute myeloid leukaemia with cytoplasmic nucleophosmin", "acute myeloid leukemia with cytoplasmic nucleophosmin", "acute myeloid leukemia with mutated NPM1", "acute myeloid leukemia, NPM1 gene mutation" ], "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 myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy." }, "child_count": 0, "reference_id": "MONDO:0044923" }, { "id": 24101, "label": "acute myeloid leukemia, inv(16)(p13.1;q22)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026157", "NCIT:C9018" ], "synonyms": [ "AML, inv(16)(p13.1;q22)", "AML, inv(16)(p13.1;q22.1)", "AML, inv(16)(p13.1q22)", "AML, inv(16)(p13.1q22.1)", "AML, inv(16)(p13;q22)", "AML, inv(16)(p13q22)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.1;q22). (A chromosomal inversion that involves chromosome 16. It is associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)" }, "child_count": 0, "reference_id": "MONDO:0100373" }, { "id": 24102, "label": "acute myeloid leukemia, t(16;16)(p13.1;q22)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026158", "NCIT:C9019" ], "synonyms": [ "AML, t(16;16)(p13.1;q22)", "AML, t(16;16)(p13.1;q22.1)", "AML, t(16;16)(p13.1q22)", "AML, t(16;16)(p13.1q22.1)", "AML, t(16;16)(p13;q22)", "AML, t(16;16)(p13q22)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly t(16;16)(p13.1;q22). (A chromosomal translocation that involves chromosome 16. It is often associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)" }, "child_count": 0, "reference_id": "MONDO:0100374" }, { "id": 24103, "label": "acute myeloid leukemia, t(15;17)(q24;q21)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026159", "NCIT:C36055" ], "synonyms": [ "AML, t(15;17)(q22;q12)", "AML, t(15;17)(q22;q21)", "AML, t(15;17)(q24;q21)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly t(15;17)(q24;q21). (A chromosomal translocation associated with creation of a fusion between the PML and RARA genes. It is seen in variants of acute promyelocytic leukemia.)" }, "child_count": 0, "reference_id": "MONDO:0100375" }, { "id": 24104, "label": "acute myeloid leukemia, t(9;11)(p21.3;q23.3)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026160" ], "synonyms": [ "AML, t(9;11)(p21.3;q23.3)", "AML, t(9;11)(p22;q23)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly t(9;11)(p21.3;q23.3). (A cytogenetic abnormality that refers to the translocation of the short arm (p21.3) of chromosome 9 and the long arm (q23.3) of chromosome 11. It is associated with the development of acute myeloid leukemia with the MLLT3-MLL fusion gene transcript.)" }, "child_count": 0, "reference_id": "MONDO:0100376" }, { "id": 24105, "label": "acute myeloid leukemia, t(10;11)(p12;q23)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026161", "NCIT:C132101" ], "synonyms": [ "AML, t(10;11)(p12;q23)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p12;q23). (A cytogenetic abnormality that refers to the translocation of chromosome 10p12 with chromosome 11q23. It is associated with acute myeloid leukemia in childhood.)" }, "child_count": 0, "reference_id": "MONDO:0100377" }, { "id": 24106, "label": "acute myeloid leukemia, t(10;11)(p11.2;q23)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026162" ], "synonyms": [ "AML, t(10;11)(p11.2;q23)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p11.2;q23). (A cytogenetic abnormality that refers to the translocation of the short arm (p11.2) of chromosome 10 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/ABI1 fusions and acute myeloid leukemia.)" }, "child_count": 0, "reference_id": "MONDO:0100378" }, { "id": 24107, "label": "acute myeloid leukemia, t(1;11)(q21;q23)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026163" ], "synonyms": [ "AML, t(1;11)(q21;q23)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly t(1;11)(q21;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q21) of chromosome 1 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/MLLT11 (AF1Q) fusions, acute myeloid leukemia and some cases of acute lymphoblastic leukemia.)" }, "child_count": 0, "reference_id": "MONDO:0100379" }, { "id": 24108, "label": "acute myeloid leukemia, t(4;11)(q21;q23)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026164" ], "synonyms": [ "AML, t(4;11)(q21;q23)", "AML, t(4;11)(q21;q23.3)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly t(4;11)(q21;q23). (A chromosomal abnormality consisting of the translocation of 4q21 with 11q23.)" }, "child_count": 0, "reference_id": "MONDO:0100380" }, { "id": 24109, "label": "acute myeloid leukemia, t(6;11)(q27;q23)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026165", "NCIT:C132105" ], "synonyms": [ "AML, t(6;11)(q27;q23)", "AML, t(6;11)(q27;q23.3)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly t(6;11)(q27;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q27) of chromosome 6 and the long arm (q23) of chromosome 11. It is associated with the development of de novo acute myeloid leukemia.)" }, "child_count": 0, "reference_id": "MONDO:0100381" }, { "id": 24110, "label": "acute myeloid leukemia, t(6;9)(p23;q34.1)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081080", "GARD:0026166", "NCIT:C82423" ], "synonyms": [ "AML, t(6;9)(p22.3;q34.1)", "AML, t(6;9)(p22;q34)", "AML, t(6;9)(p23;q34)", "AML, t(6;9)(p23;q34.1)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly t(6;9)(p23;q34.1). (A cytogenetic abnormality that refers to the translocation of the short arm (p23) of chromosome 6 and the long arm (q34.1) of chromosome 9. It is associated with DEK/NUP214 fusions, acute myeloid leukemia and myelodysplastic syndromes.)" }, "child_count": 0, "reference_id": "MONDO:0100382" }, { "id": 24111, "label": "acute myeloid leukemia, t(11;19)(q23;p13)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026167" ], "synonyms": [ "AML, t(11;19)(q23;p13)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13) of chromosome 19. It is associated with KMT2A (MLL) fusions, including those with MLLT1 (ENL) and ELL, and acute myeloid leukemia.)" }, "child_count": 0, "reference_id": "MONDO:0100383" }, { "id": 24112, "label": "acute myeloid leukemia, t(11;19)(q23;p13.1)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026168" ], "synonyms": [ "AML, t(11;19)(q23;p13.1)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13.1). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13.1) of chromosome 19. It is associated with the development of acute myeloid leukemia with variant MLL translocations and topoisomerase II inhibitor-related acute myeloid leukemia.)" }, "child_count": 0, "reference_id": "MONDO:0100384" }, { "id": 24113, "label": "acute myeloid leukemia, t(11;19)(q23.3;p13.3)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026169" ], "synonyms": [ "AML, t(11;19)(q23.3;p13.3)", "AML, t(11;19)(q23;p13.3)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23.3;p13.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23.3) of chromosome 11 and the short arm (p13.3) of chromosome 19. It is associated with KMT2A (MLL)/MLLT1 (ENL) fusions and acute myeloid leukemia.)" }, "child_count": 0, "reference_id": "MONDO:0100385" }, { "id": 24114, "label": "acute myeloid leukemia, t(v;11q23.3)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026170" ], "synonyms": [ "AML, 11q23.3 Translocation", "AML, t(11;v)(q23.3;v)", "AML, t(11;v)(q23;v)", "AML, t(V;11)(v;q23)", "AML, t(V;11)(v;q23.3)", "AML, t(v;11q23.3)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly t(v;11q23.3). (A chromosomal abnormality consisting of the translocation of genetic material from any one of several chromosomes to the 11q23.3 region, resulting in an MLL gene rearrangement.)" }, "child_count": 0, "reference_id": "MONDO:0100386" }, { "id": 24115, "label": "acute myeloid leukemia, Monosomy 7", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026171" ], "synonyms": [ "AML, Monosomy 7" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 7. (A chromosomal abnormality consisting of the absence of one of the copies of chromosome 7 in somatic cells.)" }, "child_count": 0, "reference_id": "MONDO:0100387" }, { "id": 24116, "label": "acute myeloid leukemia, Monosomy 5", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026172" ], "synonyms": [ "AML, Monosomy 5" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 5. (A cytogenetic aneuploidy abnormality that refers to the presence of one chromosome 5 only. It is associated with the development of refractory anemia with excess blasts, refractory anemia with multilineage dysplasia, and refractory anemia with multilineage dysplasia and ringed sideroblasts.)" }, "child_count": 0, "reference_id": "MONDO:0100388" }, { "id": 24117, "label": "acute myeloid leukemia, Trisomy 8", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026173", "NCIT:C162775" ], "synonyms": [ "AML, Trisomy 8", "AML, tri8" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly Trisomy 8. (A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.)" }, "child_count": 0, "reference_id": "MONDO:0100389" }, { "id": 24118, "label": "acute myeloid leukemia, der12p", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026174" ], "synonyms": [ "AML, der(12p)", "AML, der12p" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly der12p. (A cytogenetic abnormality involving the rearrangement of two or more other chromosomes with the short arm of chromosome 12 (12p).)" }, "child_count": 0, "reference_id": "MONDO:0100390" }, { "id": 24119, "label": "acute myeloid leukemia, t(2;12)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026175" ], "synonyms": [ "AML, t(2;12)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly t(2;12). (A cytogenetic abnormality that involves a translocation between chromosomes 2 and 12.)" }, "child_count": 0, "reference_id": "MONDO:0100391" }, { "id": 24120, "label": "acute myeloid leukemia, t(11;17)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026176" ], "synonyms": [ "AML, t(11;17)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly t(11;17). (A cytogenetic abnormality that involves a translocation between chromosomes 11 and 17.)" }, "child_count": 0, "reference_id": "MONDO:0100392" }, { "id": 24121, "label": "acute myeloid leukemia, t(8;16)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026177" ], "synonyms": [ "AML, t(8;16)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly t(8;16). (A cytogenetic abnormality that involves a translocation between chromosomes 8 and 16.)" }, "child_count": 0, "reference_id": "MONDO:0100393" }, { "id": 24122, "label": "acute myeloid leukemia, t(1;22)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026178" ], "synonyms": [ "AML, t(1;22)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly t(1;22). (A cytogenetic abnormality that involves a translocation between chromosomes 1 and 22.)" }, "child_count": 0, "reference_id": "MONDO:0100394" }, { "id": 24123, "label": "acute myeloid leukemia, t(5;11)(q35;p15)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026179", "NCIT:C131502" ], "synonyms": [ "AML, t(5;11)(q35;p15)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly t(5;11)(q35;p15). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 5q35. It results in the formation of NUP98/NSD1 fusion gene. It is associated with the development of acute myeloid leukemia with t(5;11)(q35;p15); NUP98-NSD1.)" }, "child_count": 0, "reference_id": "MONDO:0100395" }, { "id": 24124, "label": "acute myeloid leukemia, t(7;12)(q36;p13)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026180", "NCIT:C122690" ], "synonyms": [ "AML, t(7;12)(q36;p13)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly t(7;12)(q36;p13). (A chromosomal translocation involving the ETV6 gene on chromosome 12p13 and HLXB9 gene on chromosome 7q36.)" }, "child_count": 0, "reference_id": "MONDO:0100396" }, { "id": 24125, "label": "acute myeloid leukemia, t(9;22)(q34.1;q11.2)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026181" ], "synonyms": [ "AML, t(9;22)(q34.1;q11.2)", "AML, t(9;22)(q34;q11)", "AML, t(9;22)(q34;q11.2)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly t(9;22)(q34.1;q11.2). (A translocation between chromosomes 9 and 22 that is associated with the Philadelphia chromosome.)" }, "child_count": 0, "reference_id": "MONDO:0100397" }, { "id": 24126, "label": "acute myeloid leukemia, inv(3)(q21.3;q26.2)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026182", "NCIT:C122716" ], "synonyms": [ "AML, inv(3)(q21.3;q26.2)", "AML, inv(3)(q21.3q26.2)", "AML, inv(3)(q21q26.2)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly inv(3)(q21.3;q26.2). (A cytogenetic abnormality that refers to a paracentric inversion involving breakpoints on the long (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)" }, "child_count": 0, "reference_id": "MONDO:0100398" }, { "id": 24127, "label": "acute myeloid leukemia, t(3;3)(q21.3;q26.2)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026183", "NCIT:C122717" ], "synonyms": [ "AML, t(3;3)(q21.3;q26.2)", "AML, t(3;3)(q21.3q26.2)", "AML, t(3;3)(q21;q26.2)", "AML, t(3;3)(q26;q21)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly t(3;3)(q21.3;q26.2). (A cytogenetic abnormality that refers to the translocation where both breakpoints are on the long arm (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)" }, "child_count": 0, "reference_id": "MONDO:0100399" }, { "id": 24128, "label": "acute myeloid leukemia, t(3;12)(q23;p12.3)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026184" ], "synonyms": [ "AML, t(3;12)(q23;p12.3)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly t(3;12)(q23;p12.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 3 and the short arm (p12.3) of chromosome 12. It is associated with ETV6/MECOM (EVI1) fusions, myeloproliferative disorders, myelodysplastic syndromes and acute myelogenous leukemia.)" }, "child_count": 0, "reference_id": "MONDO:0100400" }, { "id": 24129, "label": "acute myeloid leukemia, del(5q31-q32)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026185" ], "synonyms": [ "AML, 5q31-32 Deletion", "AML, del(5)(q31-q32)", "AML, del(5)(q31q32)", "AML, del(5q31-q32)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly del(5q31-q32). (A cytogenetic abnormality that refers to deletion of chromosome bands 31-32 on the long arm of chromosome 5.)" }, "child_count": 0, "reference_id": "MONDO:0100401" }, { "id": 24130, "label": "acute myeloid leukemia, del(13q14-q21)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026186" ], "synonyms": [ "AML, 13q14-q21 Deletion", "AML, del(13)(q14-q21)", "AML, del(13)(q14q21)", "AML, del(13q)(13q14-21)", "AML, del(13q14-q21)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly del(13q14-q21). (A cytogenetic abnormality that refers to deletion of chromosome bands 14-21 on the long arm of chromosome 13.)" }, "child_count": 0, "reference_id": "MONDO:0100402" }, { "id": 24131, "label": "acute myeloid leukemia, loss of chromosome 17p", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026187" ], "synonyms": [ "AML, del(17p)", "AML, loss of chromosome 17p" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly loss of chromosome 17p. (A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 17 (17p).)" }, "child_count": 0, "reference_id": "MONDO:0100403" }, { "id": 24132, "label": "acute myeloid leukemia, MLL gene rearrangement", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081094", "GARD:0026188", "NCIT:C174129" ], "synonyms": [ "AML, KMT2A Gene Rearrangement", "AML, KMT2A Rearrangement", "AML, Lysine (K)-Specific Methyltransferase 2A Gene Rearrangement", "AML, Lysine Methyltransferase 2A Gene Rearrangement", "AML, MLL Rearrangement", "AML, MLL gene rearrangement", "AML, Mixed Lineage Leukaemia Gene Rearrangement", "AML, Mixed Lineage Leukemia Gene Rearrangement", "AML, Myeloid/Lymphoid Leukaemia Gene Rearrangement", "AML, Myeloid/Lymphoid Leukemia Gene Rearrangement", "AML, Myeloid/Lymphoid or Mixed Lineage Leukaemia Gene Rearrangement", "AML, Myeloid/Lymphoid or Mixed Lineage Leukemia Gene Rearrangement", "AML, Myeloid/Lymphoid or Mixed-Lineage Leukaemia (Trithorax Homolog, Drosophila) Gene Rearrangement", "AML, Myeloid/Lymphoid or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila) Gene Rearrangement" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly MLL gene rearrangement. (A molecular abnormality indicating rearrangement of the MLL (KMT2A) gene.)" }, "child_count": 0, "reference_id": "MONDO:0100404" }, { "id": 24133, "label": "acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026189" ], "synonyms": [ "AML, Non-KMT2A MLLT10 Rearrangement", "AML, Non-KMT2A MLLT10 rearrangement positive", "AML, Non-MLL MLLT10 Rearrangement", "AML, Non-MLL MLLT10 Rearrangement Positive" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly Non-KMT2A MLLT10 rearrangement positive. (An indication that a cytogenetic rearrangement involving MLLT10 but not involving KMT2A was detected in a sample.)" }, "child_count": 0, "reference_id": "MONDO:0100405" }, { "id": 24134, "label": "acute myeloid leukemia, inv(16)(p13.3;q24.3)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026190" ], "synonyms": [ "AML, inv(16)(p13.3;q24.3)", "AML, inv(16)(p13.3q24.3)", "AML, inv(16)(p13;q24)", "AML, inv(16)(p13q24)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.3;q24.3). (A pericentric chromosomal inversion that involves chromosome 16. It is associated with CBFA2T3/GLIS2 fusions and pediatric acute megakaryoblastic leukemia.)" }, "child_count": 0, "reference_id": "MONDO:0100406" }, { "id": 24135, "label": "acute myeloid leukemia, t(11;15)(p15;q35)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026191", "NCIT:C131504" ], "synonyms": [ "AML, t(11;15)(p15;q35)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly t(11;15)(p15;q35). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 15q35. It results in the formation of NUP98/JARID1A fusion gene. It is associated with the development of acute myeloid leukemia with t(11;15)(p15;q35); NUP98-JARID1A.)" }, "child_count": 0, "reference_id": "MONDO:0100407" }, { "id": 24136, "label": "acute myeloid leukemia, t(16;21)(q24;q22)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026192" ], "synonyms": [ "AML, t(16;21)(q24;q22)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(q24;q22). (A cytogenetic abnormality that refers to the translocation of the long arm (q24) of chromosome 16 and the long arm (q22) of chromosome 22. It is associated with RUNX1/CBFA2T3 fusions, myelodysplastic syndromes and acute myeloid leukemia.)" }, "child_count": 0, "reference_id": "MONDO:0100408" }, { "id": 24137, "label": "acute myeloid leukemia, t(3;5)(q25;q34)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081092", "GARD:0026193", "NCIT:C7600" ], "synonyms": [ "AML, t(3;5)(q25;q34)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly t(3;5)(q25;q34). (A cytogenetic abnormality that refers to the translocation of the long arm (q25) of chromosome 3 and the long arm (q34) of chromosome 5. It is associated with the development of acute myeloid leukemia arising from myelodysplastic syndrome, acute myeloid leukemia with multilineage dysplasia, and acute myeloid leukemia with myelodysplasia-related changes.)" }, "child_count": 0, "reference_id": "MONDO:0100409" }, { "id": 24138, "label": "acute myeloid leukemia, t(16;21)(p11;q22)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026194" ], "synonyms": [ "AML, t(16;21)(p11.2;q22.2)", "AML, t(16;21)(p11;q22)" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(p11;q22). (A chromosomal translocation involving the FUS gene on chromosome 16p11 and the ERG gene on chromosome 21q22.)" }, "child_count": 0, "reference_id": "MONDO:0100410" }, { "id": 24139, "label": "acute myeloid leukemia, monoallelic CEBPA gene mutation", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026195" ], "synonyms": [ "AML, C/EBP-Alpha Monoallelic Gene Mutation", "AML, C/EBPalpha Monoallelic Gene Mutation", "AML, CCAAT Enhancer Binding Protein Alpha Monoallelic Gene Mutation", "AML, CCAAT/Enhancer Binding Protein Alpha Monoallelic Gene Mutation", "AML, CCAAT/Enhancer Binding Protein, Alpha Monoallelic Gene Mutation", "AML, CEBP Monoallelic Gene Mutation", "AML, CEBPA Monoallelic Gene Mutation", "AML, CEBPA Monoallelic Mutation", "AML, moCEBPA", "AML, monoallelic CEBPA gene mutation" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly monoallelic CEBPA gene mutation. (The presence of mutations in only one allele of the CEBPA gene.)" }, "child_count": 0, "reference_id": "MONDO:0100412" }, { "id": 24140, "label": "acute myeloid leukemia, biallelic CEBPA gene mutation", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081090", "GARD:0026196", "NCIT:C129782" ], "synonyms": [ "AML, C/EBP-Alpha Biallelic Gene Mutation", "AML, C/EBPalpha Biallelic Gene Mutation", "AML, CCAAT Enhancer Binding Protein Alpha Biallelic Gene Mutation", "AML, CCAAT/Enhancer Binding Protein Alpha Biallelic Gene Mutation", "AML, CCAAT/Enhancer Binding Protein, Alpha Biallelic Gene Mutation", "AML, CEBP Biallelic Gene Mutation", "AML, CEBPA Biallelic Gene Mutation", "AML, CEBPA Biallelic Mutation", "AML, biCEBPA", "AML, biallelic CEBPA gene mutation" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly biallelic CEBPA gene mutation. (The presence of mutations in both alleles of the CEBPA gene.)" }, "child_count": 0, "reference_id": "MONDO:0100413" }, { "id": 24141, "label": "acute myeloid leukemia, CEBPA gene mutation", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026197", "NCIT:C151898" ], "synonyms": [ "AML, C/EBP-Alpha Gene Mutation", "AML, C/EBPalpha Mutation", "AML, CCAAT Enhancer Binding Protein Alpha Gene Mutation", "AML, CCAAT/Enhancer Binding Protein, Alpha Gene Mutation", "AML, CEBP Gene Mutation", "AML, CEBPA Mutation", "AML, CEBPA gene mutation" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly CEBPA gene mutation. (Mutation of the CEBPA gene encoding CCAAT/enhancer binding protein alpha. It is seen in acute myeloid leukemias usually associated with a normal karyotype.)" }, "child_count": 0, "reference_id": "MONDO:0100414" }, { "id": 24142, "label": "acute myeloid leukemia, FLT3 internal tandem duplication", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026198", "NCIT:C126748" ], "synonyms": [ "AML, Activating FLT3-ITD Gene Mutation", "AML, Activating FLT3-ITD Mutation", "AML, FLT3 ITD", "AML, FLT3 internal tandem duplication", "AML, FLT3-ITD", "AML, FLT3-ITD Activating Mutation", "AML, FLT3-ITD Mutation", "AML, FLT3/ITD Mutation" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly FLT3 internal tandem duplication. (A genetic abnormality that arises from duplications of the juxtamembrane portion of the gene and results in constitutive activation of the FLT3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myelogenous leukemia where it appears to correlate with a poor prognosis.)" }, "child_count": 0, "reference_id": "MONDO:0100415" }, { "id": 24143, "label": "acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026199" ], "synonyms": [ "AML, FLT3 tyrosine kinase domain point mutation", "AML, FLT3-TKD Point Mutation", "AML, FLT3/TKD Point Mutation" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly FLT3 tyrosine kinase domain point mutation. (Single nucleotide mutations in the tyrosine kinase domain encoded by the human FLT3 gene that are associated with acute myeloid leukemia and poor prognosis.)" }, "child_count": 0, "reference_id": "MONDO:0100416" }, { "id": 24144, "label": "acute myeloid leukemia, WT1 gene mutation", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026200" ], "synonyms": [ "AML, GUD Gene Mutation", "AML, WAGR Gene Mutation", "AML, WIT-2 Gene Mutation", "AML, WT1 gene mutation", "AML, WT1 mutation", "AML, WT33 Gene Mutation", "AML, Wilms Tumor 1 Gene Mutation", "AML, Wilms Tumour 1 Gene Mutation" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly WT1 gene mutation. (A change in the nucleotide sequence of the WT1 gene.)" }, "child_count": 0, "reference_id": "MONDO:0100417" }, { "id": 24145, "label": "acute myeloid leukemia, KIT exon 17 mutation", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026201" ], "synonyms": [ "AML, CD117 Exon 17 Mutation", "AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Exon 17 Mutation", "AML, KIT exon 17 mutation", "AML, c-KIT Exon 17 Mutation", "AML, v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Exon 17 Mutation" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 17 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 17 of the KIT gene located within 4q11-q12.)" }, "child_count": 0, "reference_id": "MONDO:0100418" }, { "id": 24146, "label": "acute myeloid leukemia, KIT exon 8 mutation", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026202" ], "synonyms": [ "AML, CD117 Exon 8 Mutation", "AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Exon 8 Mutation", "AML, KIT exon 8 mutation", "AML, c-KIT Exon 8 Mutation", "AML, v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Exon 8 Mutation" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 8 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 8 of the KIT gene located within 4q11-q12.)" }, "child_count": 0, "reference_id": "MONDO:0100419" }, { "id": 24147, "label": "acute myeloid leukemia, KIT gene mutation", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026203" ], "synonyms": [ "AML, C-KIT Mutation", "AML, CD117 Gene Mutation", "AML, CD117 Mutation", "AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Mutation", "AML, KIT gene mutation", "AML, V-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Mutation", "AML, c-KIT Gene Mutation" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly KIT gene mutation. (A molecular genetic abnormality that refers to mutation of the c-kit (CD117) proto-oncogene. It is associated with the development of gastrointestinal stromal tumor and gastrointestinal autonomic nerve tumor. It has also been described in acute myeloid leukemias, dysgerminomas, and seminomas.)" }, "child_count": 0, "reference_id": "MONDO:0100420" }, { "id": 24148, "label": "acute myeloid leukemia, GATA1 gene mutation", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026204" ], "synonyms": [ "AML, ERYF1 Gene Mutation", "AML, GATA Binding Protein 1 Gene Mutation", "AML, GATA-1 Gene Mutation", "AML, GATA1 Mutation", "AML, GATA1 gene mutation", "AML, GF-1 Gene Mutation", "AML, GF1 Gene Mutation", "AML, NF-E1 Gene Mutation", "AML, NFE1 Gene Mutation" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly GATA1 gene mutation. (A change in the nucleotide sequence of the GATA1 gene.)" }, "child_count": 0, "reference_id": "MONDO:0100421" }, { "id": 24149, "label": "acute myeloid leukemia, RUNX1 gene mutation", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081091", "GARD:0026205", "NCIT:C129786" ], "synonyms": [ "AML, AML1 Gene Mutation", "AML, AML1 Mutation", "AML, AMLCR1 Gene Mutation", "AML, Acute Myeloid Leukaemia 1 Gene Mutation", "AML, Acute Myeloid Leukemia 1 Gene Mutation", "AML, CBFA2 Gene Mutation", "AML, CBFalpha2 Mutation", "AML, RUNX1 gene mutation", "AML, Runt-Related Transcription Factor 1 Gene Mutation" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly RUNX1 gene mutation. (A change in the nucleotide sequence of the RUNX1 gene.)" }, "child_count": 0, "reference_id": "MONDO:0100422" }, { "id": 24150, "label": "acute myeloid leukemia, PTPN11 gene mutation", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026206" ], "synonyms": [ "AML, BPTP3 Gene Mutation", "AML, PTP-1D Gene Mutation", "AML, PTP2C Gene Mutation", "AML, PTPN11 gene mutation", "AML, Protein Tyrosine Phosphatase Non-Receptor Type 11 Gene Mutation", "AML, Protein Tyrosine Phosphatase, Non-Receptor Type 11 Gene Mutation", "AML, SH-PTP2 Gene Mutation", "AML, SHP-2 Gene Mutation", "AML, SHP2 Gene Mutation" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly PTPN11 gene mutation. (Mutation of the protein tyrosine phosphatase, non-receptor type 11 gene. It is seen in cases of juvenile myelomonocytic leukemia.)" }, "child_count": 0, "reference_id": "MONDO:0100423" }, { "id": 24151, "label": "acute myeloid leukemia, NRAS gene mutation", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026207" ], "synonyms": [ "AML, N-RAS Gene Mutation", "AML, NRAS gene mutation", "AML, Neuroblastoma RAS Viral Oncogene Homolog Gene Mutation" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly NRAS gene mutation. (A change in the structure of the NRAS gene.)" }, "child_count": 0, "reference_id": "MONDO:0100424" }, { "id": 24152, "label": "acute myeloid leukemia, KRAS gene mutation", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026208" ], "synonyms": [ "AML, KRAS Gene Mutation", "AML, KRAS gene mutation", "AML, KRAS-2 Gene Mutation", "AML, KRAS2 Gene Mutation", "AML, c-K-ras Gene Mutation", "AML, v-Ki-ras2 Kirsten Rat Sarcoma Viral Oncogene Homolog Gene Mutation" ], "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": "Any acute myeloid leukemia that has the chromosomal anomaly KRAS gene mutation. (A change in the nucleotide sequence of the KRAS gene.)" }, "child_count": 0, "reference_id": "MONDO:0100425" }, { "id": 25183, "label": "core binding factor acute myeloid leukemia", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080796", "GARD:0026596", "MEDGEN:825586", "NCIT:C122688", "UMLS:C3839741" ], "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 myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis." }, "child_count": 0, "reference_id": "MONDO:0850269" }, { "id": 25237, "label": "acute myeloid leukemia, t(8;21)(q22; q22.1)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081093", "GARD:0026629" ], "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 myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules." }, "child_count": 0, "reference_id": "MONDO:0850492" }, { "id": 25238, "label": "acute myeloid leukemia, t(1;22)(p13;q13)", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081096", "GARD:0026630" ], "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 myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein." }, "child_count": 0, "reference_id": "MONDO:0850495" }, { "id": 26143, "label": "acute myeloid leukemia with CBFA2T3-GLIS2 fusion", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070629", "GARD:0028093" ], "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" } ] }, "child_count": 0, "reference_id": "MONDO:0975868" }, { "id": 26144, "label": "acute myeloid leukemia with FUS-ERG fusion", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070631", "GARD:0028094", "MEDGEN:1851267", "UMLS:C5856227" ], "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" } ] }, "child_count": 0, "reference_id": "MONDO:0975870" }, { "id": 26145, "label": "acute myeloid leukemia with MNX1-ETV6 fusion", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070632", "GARD:0028095" ], "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" } ] }, "child_count": 0, "reference_id": "MONDO:0975871" }, { "id": 26146, "label": "acute myeloid leukemia with NPM1-MLF1 fusion", "isLeaf": true, "isRoot": false, "parents": [ 18806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070633", "GARD:0028096", "MEDGEN:1850295", "UMLS:C5856228" ], "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" } ] }, "child_count": 0, "reference_id": "MONDO:0975872" } ], "roots": [ { "id": 6429, "label": "myeloid leukemia" }, { "id": 11789, "label": "acute leukemia" } ] }