{"Name":"Acute myeloid leukemia with multilineage dysplasia","DiseaseID__c":"GARD:0012761","id":12761,"encodedName":"acute-myeloid-leukemia-with-multilineage-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Acute myeloid leukemia with multilineage dysplasia","Xref_IDs__c":"445448008; C1292773; C92.A; C9289; MEDGEN:224861; MONDO:0019456; ORPHA:86845","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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:0019456","Disease_Description__c":"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.","GARD_Name__c":"Acute myeloid leukemia with multilineage dysplasia","GARD_Synonym__c":"acute myeloid leukaemia with myelodysplasia-related features; 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","Curated_Disease_Description_Source__c":"MONDO:0019456","Curated_Disease_Description__c":"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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:86845","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019456","ORPHANET_ID__c":"ORPHA:86845","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Leucemia mieloide aguda con características relacionadas con la mielodisplasia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"leucemia mieloide aguda con características relacionadas con la mielodisplasia","Spanish_GARD_Synonym__c":"leucemia mieloide aguda con displasia multilineal; lma con características mielodisplásicas; lma con displasia multilíneal","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 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.","Curated_Disease_Description_Source__c":"MONDO:0019456","GARD_Synonym__c":"acute myeloid leukaemia with myelodysplasia-related features; 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","Name":"Acute myeloid leukemia with multilineage dysplasia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"HealthTree Foundation","Website__c":"https://healthtree.org/"},{"Account_Name__c":"Leukaemia Foundation","Website__c":"https://www.leukaemia.org.au/"}],"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:86845"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012761","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK47457","Source__c":"Gene Review","Xref__c":"NBK47457"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK564234","Source__c":"Gene Review","Xref__c":"NBK564234"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C9289","Source__c":"C1292773; MONDO:0019456","Xref__c":"C9289"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=445448008","Source__c":"MONDO:0019456","Xref__c":"445448008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1292773","Source__c":"C1292773","Xref__c":"C1292773"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=224861","Source__c":"C1292773","Xref__c":"MEDGEN:224861"},{"URL__c":"https://www.orpha.net/en/disease/detail/86845","Source__c":"C1292773; MONDO:0019456; ORPHA:86845","Xref__c":"ORPHA:86845"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/C92.A","Source__c":"MONDO:0019456","Xref__c":"C92.A"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019456","Source__c":"GARD:0012761","Xref__c":"MONDO:0019456"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ASXL1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/asxl1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"IDH2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/idh2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TET2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tet2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"IDH1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/idh1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"DNMT3A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dnmt3a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{"Specialist":["Cancer - Oncologist","Hematology"],"Disease Category":["Cancer","Hematology"],"Account":["Myeloid hemopathy"]},"synonyms":["acute myeloid leukaemia with myelodysplasia-related features"," 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"]}