{"orpha":700111,"name":"Homozygous hemoglobin O Arab disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Homozygous O Arab hemoglobinopathy"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-700111/","orphanet_url":"https://www.orpha.net/en/disease/detail/700111","names":{"fr":{"name":"Hémoglobinose O Arab homozygote"},"de":{"name":"Homozygotes Hämoglobin O Arab","synonyms":["HbSO, homozygot"]},"es":{"name":"Enfermedad homocigota de la hemoglobina O-árabe","synonyms":["Hemoglobinopatía homocigótica O-árabe"]},"it":{"name":"Emoglobina omozigote O malattia Araba","synonyms":["Emoglobinopatia omozigote O Araba"]},"nl":{"name":"Ziekte door homozygote hemoglobine O-Arab","synonyms":["Homozygote O-Arab hemoglobinopathie"]},"pt":{"name":"Homozygous hemoglobin O Arab disease"},"pl":{"name":"Homozygous hemoglobin O Arab disease","synonyms":["Homozygous O Arab hemoglobinopathy"]},"cs":{"name":"Homozygous hemoglobin O Arab disease","synonyms":["Homozygous O Arab hemoglobinopathy"]}},"xrefs":[{"source":"ICD-10","code":"D58.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A51.9","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1439043542"}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":466066,"name":"Genetic hemoglobinopathy","classifications":[156]},{"orpha":68364,"name":"Hemoglobinopathy","classifications":[194,233]}],"children":[],"genes":[{"symbol":"HBB","name":"hemoglobin subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23192960[PMID]_37554704[PMID]","hgnc":"4827","ensembl":"ENSG00000244734","omim":"141900","loci":["11p15.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"18254282[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"18254282[PMID]_ORPHANET"}],"phenotypes":null}