{"Name":"Acute myeloblastic leukemia with maturation","DiseaseID__c":"GARD:0000527","id":527,"encodedName":"acute-myeloblastic-leukemia-with-maturation","IsDeleted":false,"Disease_Name_Full__c":"Acute myeloblastic leukemia with maturation","Xref_IDs__c":"C1879321; C3250; DOID:0081087; MEDGEN:361829; MONDO:0020320; ORPHA:98834","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0020320","Disease_Description__c":"An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. (WHO, 2001)","GARD_Name__c":"Acute myeloblastic leukemia with maturation","GARD_Synonym__c":"acute granulocytic leukemia with maturation; acute m2 myeloid leukaemia; acute m2 myeloid leukemia; acute myeloblastic leukaemia m2; acute myeloblastic leukemia m2; acute myelocytic leukaemia with maturation; acute myelocytic leukemia with maturation; acute myelogenous leukaemia with maturation; acute myelogenous leukemia with maturation; acute myeloid leukaemia (aml-m2); acute myeloid leukaemia with maturation; acute myeloid leukemia (aml-m2); acute myeloid leukemia with maturation; acute myeloid leukemia with maturation, fab m2; aml m2; aml with maturation; fab m2; m2 - acute myeloblastic leukemia with maturation; m2 acute granulocytic leukaemia; m2 acute granulocytic leukemia; m2 acute myeloblastic leukaemia; m2 acute myeloblastic leukaemia with maturation; m2 acute myeloblastic leukemia; m2 acute myeloblastic leukemia with maturation; m2 acute myelocytic leukaemia with maturation; m2 acute myelocytic leukemia with maturation; m2 acute myelogenous leukaemia; m2 acute myelogenous leukaemia with maturation; m2 acute myelogenous leukemia; m2 acute myelogenous leukemia with maturation; m2 acute myeloid leukaemia; m2 acute myeloid leukaemia with maturation; m2 acute myeloid leukemia; m2 acute myeloid leukemia with maturation","Curated_Disease_Description_Source__c":"MONDO:0020320","Curated_Disease_Description__c":"An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. (WHO, 2001)","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:98834","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020320","ORPHANET_ID__c":"ORPHA:98834","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Leucemia mieloblástica aguda con maduración","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"leucemia mieloblástica aguda con maduración","Spanish_GARD_Synonym__c":"aml m2; lam m2; leucemia mieloblástica aguda m2; leucemia mielobástica aguda m2; lma m2","Category_Linearization__c":"ORPHA:250908","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":"An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. (WHO, 2001)","Curated_Disease_Description_Source__c":"MONDO:0020320","GARD_Synonym__c":"acute granulocytic leukemia with maturation; acute m2 myeloid leukaemia; acute m2 myeloid leukemia; acute myeloblastic leukaemia m2; acute myeloblastic leukemia m2; acute myelocytic leukaemia with maturation; acute myelocytic leukemia with maturation; acute myelogenous leukaemia with maturation; acute myelogenous leukemia with maturation; acute myeloid leukaemia (aml-m2); acute myeloid leukaemia with maturation; acute myeloid leukemia (aml-m2); acute myeloid leukemia with maturation; acute myeloid leukemia with maturation, fab m2; aml m2; aml with maturation; fab m2; m2 - acute myeloblastic leukemia with maturation; m2 acute granulocytic leukaemia; m2 acute granulocytic leukemia; m2 acute myeloblastic leukaemia; m2 acute myeloblastic leukaemia with maturation; m2 acute myeloblastic leukemia; m2 acute myeloblastic leukemia with maturation; m2 acute myelocytic leukaemia with maturation; m2 acute myelocytic leukemia with maturation; m2 acute myelogenous leukaemia; m2 acute myelogenous leukaemia with maturation; m2 acute myelogenous leukemia; m2 acute myelogenous leukemia with maturation; m2 acute myeloid leukaemia; m2 acute myeloid leukaemia with maturation; m2 acute myeloid leukemia; m2 acute myeloid leukemia with maturation","Name":"Acute myeloblastic leukemia with maturation","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Cancer.net","Website__c":"https://www.cancer.net/"},{"Account_Name__c":"Blood Cancer United","Website__c":"https://bloodcancerunited.org/"},{"Account_Name__c":"Aplastic Anemia and MDS International Foundation","Website__c":"https://www.aamds.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"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"},{"Tag_Name__c":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"},{"Tag_Name__c":"Myeloid hemopathy","Tag_Category__c":"Account","curated_tag_name":"Blood or bone marrow disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:98834"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000527","Source__c":"RareSource"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3250","Source__c":"C1879321; MONDO:0020320","Xref__c":"C3250"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081087","Source__c":"MONDO:0020320","Xref__c":"DOID:0081087"},{"URL__c":"https://www.orpha.net/en/disease/detail/98834","Source__c":"C1879321; MONDO:0020320; ORPHA:98834","Xref__c":"ORPHA:98834"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1879321","Source__c":"C1879321","Xref__c":"C1879321"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=361829","Source__c":"C1879321","Xref__c":"MEDGEN:361829"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020320","Source__c":"GARD:0000527","Xref__c":"MONDO:0020320"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=359648001","Source__c":"C1879321","Xref__c":"359648001"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=103691009","Source__c":"C1879321","Xref__c":"103691009"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NPM1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/npm1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KIT","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kit","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"FLT3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/flt3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{"Specialist":["Cancer - Oncologist","Hematology","Pediatrics"],"Disease Category":["Cancer","Hematology"],"Account":["Myeloid hemopathy"]},"synonyms":["acute granulocytic leukemia with maturation"," acute m2 myeloid leukaemia"," acute m2 myeloid leukemia"," acute myeloblastic leukaemia m2"," acute myeloblastic leukemia m2"," acute myelocytic leukaemia with maturation"," acute myelocytic leukemia with maturation"," acute myelogenous leukaemia with maturation"," acute myelogenous leukemia with maturation"," acute myeloid leukaemia (aml-m2)"," acute myeloid leukaemia with maturation"," acute myeloid leukemia (aml-m2)"," acute myeloid leukemia with maturation"," acute myeloid leukemia with maturation, fab m2"," aml m2"," aml with maturation"," fab m2"," m2 - acute myeloblastic leukemia with maturation"," m2 acute granulocytic leukaemia"," m2 acute granulocytic leukemia"," m2 acute myeloblastic leukaemia"," m2 acute myeloblastic leukaemia with maturation"," m2 acute myeloblastic leukemia"," m2 acute myeloblastic leukemia with maturation"," m2 acute myelocytic leukaemia with maturation"," m2 acute myelocytic leukemia with maturation"," m2 acute myelogenous leukaemia"," m2 acute myelogenous leukaemia with maturation"," m2 acute myelogenous leukemia"," m2 acute myelogenous leukemia with maturation"," m2 acute myeloid leukaemia"," m2 acute myeloid leukaemia with maturation"," m2 acute myeloid leukemia"," m2 acute myeloid leukemia with maturation"]}