{"orpha":357034,"name":"Non-hereditary retinoblastoma","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Retinoblastoma","url":"https://raremap.alftech.space/d/ORPHA-357034/","orphanet_url":"https://www.orpha.net/en/disease/detail/357034","names":{"fr":{"name":"Rétinoblastome non héréditaire"},"de":{"name":"Retinoblastom, unilaterales","synonyms":["Retinoblastom, nicht-familiäres","Retinoblastom, nicht-hereditäres"]},"es":{"name":"Retinoblastoma no hereditario"},"it":{"name":"Retinoblastoma unilaterale","synonyms":["Retinoblastoma non ereditario","Retinoblastoma non familiare"]},"nl":{"name":"Unilateraal retinoblastoom","synonyms":["Niet-hereditair retinoblastoom","Niet-familiaal retinoblastoom"]},"pt":{"name":"Retinoblastoma unilateral"},"pl":{"name":"Sziatkówczak jednostronny","synonyms":["Siatkówczak niedziedziczny","Siatkówczak nierodzinny"]},"cs":{"name":"Sporadická forma retinoblastomu","synonyms":["Nedědičná forma retinoblastomu"]},"uk":{"name":"Неспадкова ретинобластома"},"zh":{"name":"非遗传性视网膜母细胞瘤"},"tr":{"name":"Kalıtsal olmayan retinoblastoma"}},"xrefs":[{"source":"OMIM","code":"180200","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C69.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2D02.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018161","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680987","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":790,"name":"Retinoblastoma","classifications":[189,202]}],"children":[],"genes":[{"symbol":"MYCN","name":"MYCN proto-oncogene, bHLH transcription factor","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"23498719[PMID]_23498720[PMID]","hgnc":"7559","ensembl":"ENSG00000134323","omim":"164840","loci":["2p24.3"]},{"symbol":"RB1","name":"RB transcriptional corepressor 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"23498719[PMID]_23498780[PMID]_16934146[PMID]","hgnc":"9884","ensembl":"ENSG00000139687","omim":"614041","loci":["13q14.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.038,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}