{"Name":"Aplastic anemia","DiseaseID__c":"GARD:0020234","id":20234,"encodedName":"aplastic-anemia","IsDeleted":false,"Disease_Name_Full__c":"Aplastic anemia","Xref_IDs__c":"306058006; 423022929; C0002874; C2870; D000741; DOID:12449; HP:0001915; MEDGEN:8063; MONDO:0015909; ORPHA:182040","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":4,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":4,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0015909","Disease_Description__c":"Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors.","GARD_Name__c":"Aplastic anemia","GARD_Synonym__c":"aplastic anaemia; erythroid aplasia; hematopoietic aplasia; non regenerative anemia","Curated_Disease_Description_Source__c":"MONDO:0015909","Curated_Disease_Description__c":"Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:182040","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015909","ORPHANET_ID__c":"ORPHA:182040","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anemia aplásica","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"anemia aplásica","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97992","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":"Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors.","Curated_Disease_Description_Source__c":"MONDO:0015909","GARD_Synonym__c":"aplastic anaemia; erythroid aplasia; hematopoietic aplasia; non regenerative anemia","Name":"Aplastic anemia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Aplastic Anemia and MDS International Foundation","Website__c":"https://www.aamds.org"},{"Account_Name__c":"Autoimmune Registry","Website__c":"https://www.autoimmuneregistry.org/"}],"GARD_Disease_Tag__c":[{"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0002874","Source__c":"C0002874","Xref__c":"C0002874"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C2870","Source__c":"C0002874; MONDO:0015909","Xref__c":"C2870"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000741","Source__c":"C0002874; MONDO:0015909","Xref__c":"D000741"},{"URL__c":"https://www.orpha.net/en/disease/detail/182040","Source__c":"C0002874; MONDO:0015909","Xref__c":"ORPHA:182040"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=306058006","Source__c":"C0002874; MONDO:0015909","Xref__c":"306058006"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A12449","Source__c":"MONDO:0015909","Xref__c":"DOID:12449"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=8063","Source__c":"C0002874","Xref__c":"MEDGEN:8063"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=304132006","Source__c":"C0002874","Xref__c":"304132006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015909","Source__c":"GARD:0020234","Xref__c":"MONDO:0015909"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001915","Source__c":"C0002874","Xref__c":"HP:0001915"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022929","Xref__c":"423022929"},{"URL__c":"https://www.nhlbi.nih.gov/health/anemia/aplastic-anemia"},{"URL__c":"https://www.niddk.nih.gov/health-information/blood-diseases/aplastic-anemia-myelodysplastic-syndromes"},{"URL__c":"https://medlineplus.gov/aplasticanemia.html"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SBDS","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sbds","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NBN","GHR_URL__c":"https://medlineplus.gov/genetics/gene/nbn","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TERT","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tert","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"IFNG","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PRF1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/prf1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{"Disease Category":["Hematology"],"Specialist":["Hematology"]},"synonyms":["aplastic anaemia"," erythroid aplasia"," hematopoietic aplasia"," non regenerative anemia"]}