{"orpha":723203,"name":"Choroidal and ciliary body melanoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Melanoma of choroid and cilliary body"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-723203/","orphanet_url":"https://www.orpha.net/en/disease/detail/723203","names":{"fr":{"name":"Mélanome de la choroïde et du corps ciliaire","synonyms":["Mélanome de la choroïde et du coprs ciliaire"]},"de":{"name":"Melanom der Choroidea und des Ziliarkörpers","synonyms":["Aderhautmelanom","Ziliarkörpermelanom"]},"es":{"name":"Melanoma de coroides y cuerpo ciliar","synonyms":["Melanoma de coroides","Melanoma de cuerpo ciliar"]},"it":{"name":"Melanoma della coroide e del corpo ciliare","synonyms":["Melanoma del corpo ciliare","Melanoma della coroide"]},"nl":{"name":"Melanoom van choroidea en corpus ciliare","synonyms":["Melanoom van choroidea","Melanoom van vaatvlies","Choroideamelanoom","Melanoom van corpus ciliare","Melanoom van straallichaam","Melanoom van vaatvlies en straallichaam"]},"pt":{"name":"Choroidal and ciliary body melanoma"},"pl":{"name":"Choroidal and ciliary body melanoma","synonyms":["Melanoma of choroid and cilliary body"]},"cs":{"name":"Choroidal and ciliary body melanoma","synonyms":["Melanoma of choroid and cilliary body"]}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":716210,"name":"Rare malignant neoplastic choroidal disorder","classifications":[189,202]}],"children":[],"genes":[{"symbol":"SF3B1","name":"splicing factor 3b subunit 1","gene_type":"gene with protein product","association":"Biomarker tested in","status":"Assessed","source":"23861464[PMID]_23714557[PMID]","hgnc":"10768","ensembl":"ENSG00000115524","omim":"605590","loci":["2q33.1"]},{"symbol":"BAP1","name":"BRCA1 associated deubiquitinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21941004[PMID]","hgnc":"950","ensembl":"ENSG00000163930","omim":"603089","loci":["3p21.1"]},{"symbol":"BAP1","name":"BRCA1 associated deubiquitinase 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"21051595[PMID]","hgnc":"950","ensembl":"ENSG00000163930","omim":"603089","loci":["3p21.1"]},{"symbol":"CYSLTR2","name":"cysteinyl leukotriene receptor 2","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"27089179[PMID]","hgnc":"18274","ensembl":"ENSG00000152207","omim":"605666","loci":["13q14.2"]},{"symbol":"GNA11","name":"G protein subunit alpha 11","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"21083380[PMID]_23714557[PMID]","hgnc":"4379","ensembl":"ENSG00000088256","omim":"139313","loci":["19p13.3"]},{"symbol":"GNAQ","name":"G protein subunit alpha q","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"21083380[PMID]_23714557[PMID]","hgnc":"4390","ensembl":"ENSG00000156052","omim":"600998","loci":["9q21.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6,"area":"Worldwide","status":"Validated","source":"37865279[PMID]_ORPHANET"}],"phenotypes":null}