{"Name":"Blast phase chronic myelogenous leukemia, BCR-ABL1 positive","DiseaseID__c":"GARD:0024298","id":24298,"encodedName":"blast-phase-chronic-myelogenous-leukemia-bcr-abl1-positive","IsDeleted":false,"Disease_Name_Full__c":"Blast phase chronic myelogenous leukemia, BCR-ABL1 positive","Xref_IDs__c":"413656006; 423022140; C0005699; C9110; D001752; MEDGEN:2281; MONDO:0006115","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0006115","Disease_Description__c":"An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001).","GARD_Name__c":"Blast phase chronic myelogenous leukemia, BCR-ABL1 positive","GARD_Synonym__c":"blast crisis; blast crisis stage of chronic myeloid leukemia; blast phase chronic granulocytic leukaemia; blast phase chronic granulocytic leukemia; blast phase chronic myelocytic leukaemia; blast phase chronic myelocytic leukemia; blast phase chronic myelogenous leukaemia; blast phase chronic myelogenous leukemia; blast phase chronic myeloid leukaemia; blast phase chronic myeloid leukemia; blast phase cml; blastic phase chronic granulocytic leukaemia; blastic phase chronic granulocytic leukemia; blastic phase chronic myelocytic leukaemia; blastic phase chronic myelocytic leukemia; blastic phase chronic myelogenous leukaemia; blastic phase chronic myelogenous leukemia; blastic phase chronic myeloid leukaemia; blastic phase chronic myeloid leukemia; blastic phase cml","Curated_Disease_Description_Source__c":"MONDO:0006115","Curated_Disease_Description__c":"Chronic Myelogenous Leukemia (CML) is a clonal disorder involving the abnormal fusion of chromosomes 9 and 22, forming the Philadelphia chromosome. This in turn produces and abnormal enzyme, tyrosine kinase, which causes abnormal production of white blood cells.\r\n\r\nThe disease is classified by phase: chronic, accelerated, and blast phases. The accelerated and blast phases of CML refer to those phases of the disease when increased immature white blood cells (blasts) are made and do not mature. When this happens, the disease behaves similarly to acute leukemia. Technically, the chronic phase with occurs <10% blasts in the bone marrow or blood; the accelerated phase occurs with 11-19% blasts in the bone marrow or blood; and the blast phase occurs with 20% or more blasts in the bone marrow or blood.\r\n\r\nSymptoms include: fever, night sweats, bone pain, and weight loss. When tiredness, fever, and an enlarged spleen occur during the blast phase, it is called a blast crisis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0006115","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Chronic Myelogenous Leukemia (CML) is a clonal disorder involving the abnormal fusion of chromosomes 9 and 22, forming the Philadelphia chromosome. This in turn produces and abnormal enzyme, tyrosine kinase, which causes abnormal production of white blood cells.\r\n\r\nThe disease is classified by phase: chronic, accelerated, and blast phases. The accelerated and blast phases of CML refer to those phases of the disease when increased immature white blood cells (blasts) are made and do not mature. When this happens, the disease behaves similarly to acute leukemia. Technically, the chronic phase with occurs <10% blasts in the bone marrow or blood; the accelerated phase occurs with 11-19% blasts in the bone marrow or blood; and the blast phase occurs with 20% or more blasts in the bone marrow or blood.\r\n\r\nSymptoms include: fever, night sweats, bone pain, and weight loss. When tiredness, fever, and an enlarged spleen occur during the blast phase, it is called a blast crisis.","Curated_Disease_Description_Source__c":"MONDO:0006115","GARD_Synonym__c":"blast crisis; blast crisis stage of chronic myeloid leukemia; blast phase chronic granulocytic leukaemia; blast phase chronic granulocytic leukemia; blast phase chronic myelocytic leukaemia; blast phase chronic myelocytic leukemia; blast phase chronic myelogenous leukaemia; blast phase chronic myelogenous leukemia; blast phase chronic myeloid leukaemia; blast phase chronic myeloid leukemia; blast phase cml; blastic phase chronic granulocytic leukaemia; blastic phase chronic granulocytic leukemia; blastic phase chronic myelocytic leukaemia; blastic phase chronic myelocytic leukemia; blastic phase chronic myelogenous leukaemia; blastic phase chronic myelogenous leukemia; blastic phase chronic myeloid leukaemia; blastic phase chronic myeloid leukemia; blastic phase cml","Name":"Blast phase chronic myelogenous leukemia, BCR-ABL1 positive","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C001752","Source__c":"C0005699; MONDO:0006115","Xref__c":"D001752"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=2281","Source__c":"C0005699","Xref__c":"MEDGEN:2281"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0005699","Source__c":"C0005699","Xref__c":"C0005699"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=413656006","Source__c":"C0005699; MONDO:0006115","Xref__c":"413656006"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C9110","Source__c":"C0005699; MONDO:0006115","Xref__c":"C9110"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0006115","Source__c":"GARD:0024298","Xref__c":"MONDO:0006115"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=278180008","Source__c":"C0005699","Xref__c":"278180008"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022140","Xref__c":"423022140"}],"tags":{"Disease Category":["Cancer"]},"synonyms":["blast crisis"," blast crisis stage of chronic myeloid leukemia"," blast phase chronic granulocytic leukaemia"," blast phase chronic granulocytic leukemia"," blast phase chronic myelocytic leukaemia"," blast phase chronic myelocytic leukemia"," blast phase chronic myelogenous leukaemia"," blast phase chronic myelogenous leukemia"," blast phase chronic myeloid leukaemia"," blast phase chronic myeloid leukemia"," blast phase cml"," blastic phase chronic granulocytic leukaemia"," blastic phase chronic granulocytic leukemia"," blastic phase chronic myelocytic leukaemia"," blastic phase chronic myelocytic leukemia"," blastic phase chronic myelogenous leukaemia"," blastic phase chronic myelogenous leukemia"," blastic phase chronic myeloid leukaemia"," blastic phase chronic myeloid leukemia"," blastic phase cml"]}