{"orpha":88,"name":"Idiopathic aplastic anemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Idiopathic bone marrow failure"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-88/","orphanet_url":"https://www.orpha.net/en/disease/detail/88","names":{"fr":{"name":"Aplasie médullaire idiopathique"},"de":{"name":"Aplastische Anämie, idiopathische","synonyms":["Knochenmarkaplasie, idiopathische"]},"es":{"name":"Anemia aplásica idiopática","synonyms":["Fallo idiopático de la médula ósea"]},"it":{"name":"Anemia aplastica idiopatica","synonyms":["Insufficienza idiopatia del midollo osseo"]},"nl":{"name":"Idiopathische aplastische anemie","synonyms":["Idiopathisch beenmergfalen"]},"pt":{"name":"Falência da medula óssea"},"pl":{"name":"Idiopatyczna niedokrwistość aplastyczna","synonyms":["Niewydolność szpiku kostnego"]},"cs":{"name":"Idiopatická aplastická anémie","synonyms":["Idiopatické selhání kostní dřeně"]},"uk":{"name":"Ідіопатична апластична анемія","synonyms":["Ідіопатична недостатність кісткового мозку"]},"zh":{"name":"特发性再生障碍性贫血","synonyms":["特发性骨髓衰竭性疾病"]},"tr":{"name":"İdiyopatik aplastik anemi","synonyms":["İdiyopatik kemik iliği yetmezliği"]}},"xrefs":[{"source":"OMIM","code":"609135","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D61.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"3A70.12","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1615519452"},{"source":"MONDO","code":"0012197","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538494","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0348890","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10054580","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic 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000","value":0.27,"area":"Brazil","status":"Validated","source":"35209917[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-17","source":"17214739[PMID]_24790407[PMID]_24424170[PMID]","terms":[{"hpo":"HP:0001903","label":"Anemia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0005528","label":"Bone marrow hypocellularity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001876","label":"Pancytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001896","label":"Reticulocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031364","label":"Ecchymosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000225","label":"Gingival bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000573","label":"Retinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Excluded (0%)","criteria":null}]}}