{"Name":"Acute myeloid leukemia, M6 type","DiseaseID__c":"GARD:0009620","id":9620,"encodedName":"acute-myeloid-leukemia-m6-type","IsDeleted":false,"Disease_Name_Full__c":"Acute myeloid leukemia, M6 type","Xref_IDs__c":"93451002; C0023440; C8923; C94.0; D004915; DOID:0080780; MEDGEN:7316; MONDO:0017858; ORPHA:318","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0017858","Disease_Description__c":"An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)","GARD_Name__c":"Acute myeloid leukemia, M6 type","GARD_Synonym__c":"acute erythroblastic leukaemia; acute erythroblastic leukemia; acute erythroid leukemia; acute erythroleukemia; acute erythroleukemia - m6a subtype; acute erythroleukemia - m6b subtype; acute myeloid leukaemia m6; acute myeloid leukemia fab-m6; acute myeloid leukemia m6; ael; aml (acute myeloid leukemia), m6 type; aml m6; di guglielmo's disease; di guglielmo's syndrome; erythremic myelosis; erythroblastic leukaemia; erythroblastic leukemia; erythroleukemia, fab m6; fab m6; leukemia, erythroid, malignant; m6 - acute erythroleukemia; m6 acute myeloid leukaemia; m6 acute myeloid leukemia","Curated_Disease_Description_Source__c":"MONDO:0017858","Curated_Disease_Description__c":"An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:318","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017858","ORPHANET_ID__c":"ORPHA:318","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Leucemia eritroide aguda","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"leucemia eritroide aguda","Spanish_GARD_Synonym__c":"eritroleucemia; leucemia mieloblástica aguda tipo 6; mla-m6","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 characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)","Curated_Disease_Description_Source__c":"MONDO:0017858","GARD_Synonym__c":"acute erythroblastic leukaemia; acute erythroblastic leukemia; acute erythroid leukemia; acute erythroleukemia; acute erythroleukemia - m6a subtype; acute erythroleukemia - m6b subtype; acute myeloid leukaemia m6; acute myeloid leukemia fab-m6; acute myeloid leukemia m6; ael; aml (acute myeloid leukemia), m6 type; aml m6; di guglielmo's disease; di guglielmo's syndrome; erythremic myelosis; erythroblastic leukaemia; erythroblastic leukemia; erythroleukemia, fab m6; fab m6; leukemia, erythroid, malignant; m6 - acute erythroleukemia; m6 acute myeloid leukaemia; m6 acute myeloid leukemia","Name":"Acute myeloid leukemia, M6 type","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Cancer.net","Website__c":"https://www.cancer.net/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.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":"Adolescent","Provided_By__c":"ORPHA:318"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:318"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:318"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:318"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=7316","Source__c":"C0023440","Xref__c":"MEDGEN:7316"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0023440","Source__c":"C0023440","Xref__c":"C0023440"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080780","Source__c":"MONDO:0017858","Xref__c":"DOID:0080780"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=93451002","Source__c":"C0023440; MONDO:0017858","Xref__c":"93451002"},{"URL__c":"https://www.orpha.net/en/disease/detail/318","Source__c":"C0023440; MONDO:0017858; ORPHA:318","Xref__c":"ORPHA:318"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C8923","Source__c":"C0023440; MONDO:0017858","Xref__c":"C8923"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C004915","Source__c":"C0023440; MONDO:0017858","Xref__c":"D004915"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=14317002","Source__c":"C0023440","Xref__c":"14317002"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/C94.0","Source__c":"MONDO:0017858","Xref__c":"C94.0"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017858","Source__c":"GARD:0009620","Xref__c":"MONDO:0017858"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C95993","Source__c":"C0023440","Xref__c":"C95993"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:318","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012133","HPO_Synonym__c":"Erythroblastopenia","HPO_Name__c":"Erythroid hypoplasia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:318","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of a monoclonal immunoglobulin M protein in the serum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005508","HPO_Name__c":"Monoclonal immunoglobulin M proteinemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:318","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004828","HPO_Synonym__c":"Myelodysplasia with sideroblastosis","HPO_Name__c":"Refractory anemia with ringed sideroblasts","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:318","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A larger than normal amount or percentage of hematopoietic cells relative to marrow fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031020","HPO_Synonym__c":"Myeloid hyperplasia","HPO_Name__c":"Bone marrow hypercellularity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:318","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005528","HPO_Synonym__c":"Bone marrow failure; Bone marrow hypoplasia; Hypoplastic bone marrow; Myeloid hypoplasia","HPO_Name__c":"Bone marrow hypocellularity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:318","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001876","HPO_Synonym__c":"Low blood cell count","HPO_Name__c":"Pancytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:318","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:318","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal decreased number of leukocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001882","HPO_Synonym__c":"Decreased blood leukocyte number; Leukopenia; Low white blood cell count","HPO_Name__c":"Decreased total leukocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:318","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025035","HPO_Name__c":"Abnormal proerythroblast morphology","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Hematology","Pediatrics"],"Disease Category":["Cancer","Hematology"],"Account":["Myeloid hemopathy"]},"synonyms":["acute erythroblastic leukaemia"," acute erythroblastic leukemia"," acute erythroid leukemia"," acute erythroleukemia"," acute erythroleukemia - m6a subtype"," acute erythroleukemia - m6b subtype"," acute myeloid leukaemia m6"," acute myeloid leukemia fab-m6"," acute myeloid leukemia m6"," ael"," aml (acute myeloid leukemia), m6 type"," aml m6"," di guglielmo's disease"," di guglielmo's syndrome"," erythremic myelosis"," erythroblastic leukaemia"," erythroblastic leukemia"," erythroleukemia, fab m6"," fab m6"," leukemia, erythroid, malignant"," m6 - acute erythroleukemia"," m6 acute myeloid leukaemia"," m6 acute myeloid leukemia"]}