{"orpha":251287,"name":"Benign concentric annular macular dystrophy","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":[],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Retinitis pigmentosa","url":"https://raremap.alftech.space/d/ORPHA-251287/","orphanet_url":"https://www.orpha.net/en/disease/detail/251287","names":{"fr":{"name":"Dystrophie maculaire annulaire concentrique bénigne"},"de":{"name":"Makuladystrophie, anuläre benigne konzentrische"},"es":{"name":"Distrofia macular anular concéntrica benigna"},"it":{"name":"Distrofia maculare anulare concentrica benigna"},"nl":{"name":"Goedaardige concentrische annulaire maculadystrofie","synonyms":["Goedaardige concentrische ringvormige maculadystrofie"]},"pt":{"name":"Distrofia macular anular concêntrica benigna"},"pl":{"name":"Łagodna koncentryczna pierścieniowa dystrofia plamki"},"cs":{"name":"Benigní koncentrická anulární makulární dystrofie"},"uk":{"name":"Доброякісна концентрична кільцева макулодистрофія","definition":"Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull’s eye configuration."},"zh":{"name":"良性同心环状黄斑营养不良","definition":"良性同心环状黄斑营养不良(BCAMD)是一种进行性常染色体显性黄斑营养不良症，其特征是黄斑旁色素减退，继而表现为牛眼形态的类视网膜色素变性(夜视和周边视力丧失)。"},"tr":{"name":"Selim eşmerkezli anüler maküler distrofi"}},"xrefs":[{"source":"ICD-10","code":"H31.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B75.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1839503243"},{"source":"MONDO","code":"0007934","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304667","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9887","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":791,"name":"Retinitis pigmentosa"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}