{"orpha":674935,"name":"Torpedo Maculopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Atypical macular coloboma","Congenital hypomelanotic freckle","Paramacular albinotic spot syndrome","Solitary hypopigmented nevus of the retinal pigment epithelium","TM"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-674935/","orphanet_url":"https://www.orpha.net/en/disease/detail/674935","names":{"fr":{"name":"Maculopathie en torpille"},"de":{"name":"Torpedo-Makulopathie","synonyms":["Atypisches Makulakolobom","Kongenitale hypomelanotische Flecken","Solitärer hypopigmentierter Naevus des retinalen Pigmentepithels","Torpedoförmige Läsion der temporalen Makula"]},"es":{"name":"Maculopatía en torpedo","synonyms":["Nevus hipopigmentado aislado del epitelio pigmentario de la retina","Peca hipomelanótica congénita","Síndrome de la mancha albinótica paramacular","Coloboma macular atípico"]},"it":{"name":"Maculopatia a siluro","synonyms":["Coloboma maculare atipico","Lentiggine ipomelanotica congenita","Nevo ipopigmentato solitario dell’epitelio pigmentato della retina","Sindrome della macchia albinotica paramaculare","TM"]},"nl":{"name":"Torpedo-maculopathie","synonyms":["Atypisch maculacoloboom","Congenitale hypomelanotische efelide","Congenitale hypomelanotische sproet","Paramaculaire albinotische vlek-syndroom","Solitaire gehypopigmenteerde naevus van retinaal pigmentepitheel","TM"]},"pt":{"name":"Maculopatia torpedo","synonyms":["Coloboma vascular atípico","Nevus hipopigmentado solitário do epitélio pigmentado da retina","Sarda hipomelanótica congénita","Síndrome de mancha albinótica paramacular","TM"]},"pl":{"name":"Pojedyncze znamię hipopigmentowane nabłonka barwnikowego siatkówki","synonyms":["Atypical macular coloboma","Congenital hypomelanotic freckle","Paramacular albinotic spot syndrome","Solitary hypopigmented nevus of the retinal pigment epithelium","TM"]},"cs":{"name":"Torpédová makulopatie","synonyms":["Atypical macular coloboma","Congenital hypomelanotic freckle","Paramacular albinotic spot syndrome","Solitary hypopigmented nevus of the retinal pigment epithelium","TM"]},"uk":{"name":"Торпедоподібна макулопатія","synonyms":["Атипова макулярна колобома","Вроджена гіпомеланотична веснянка","Синдром парамакулярної альбінозної плями","Поодинокий гіпопігментований невус пігментного епітелію сітківки","ТМ"]}},"xrefs":[{"source":"ICD-10","code":"H31.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B6Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0971125","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"971125","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5891237","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":716419,"name":"Rare isolated non-progressive predominantly macular disorder","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":80.0,"area":"Worldwide","status":"Validated","source":"31686968[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"31686968[PMID]_ORPHANET"}],"phenotypes":null}