{"orpha":166286,"name":"Porokeratotic eccrine ostial and dermal duct nevus","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Comedo nevus of the palm","Porokeratotic eccrine nevus"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-166286/","orphanet_url":"https://www.orpha.net/en/disease/detail/166286","names":{"fr":{"name":"Naevus eccrin porokératotique"},"de":{"name":"Ostiumnaevus, ekkriner porokeratotischer","synonyms":["Komedonennaevus der Handflächen","PEODDN"]},"es":{"name":"Nevo poroqueratósico del ostio y conducto dérmico ecrinos","synonyms":["Comedonevus de la palma","Nevo comedogénico en la palma","Nevo exocrino poroqueratósico","Nevo poroqueratósico ecrino"]},"it":{"name":"Nevo eccrino porocheratosico del dotto dermico e dell'ostio","synonyms":["Nevo comedonico del palmo","Nevo eccrino porocheratosico"]},"nl":{"name":"Porokeratotische eccriene ostiale en dermale kanaalnaevus","synonyms":["Comedonaevus van palm","Porokeratotische eccriene naevus"]},"pt":{"name":"Nevo poroqueratótico écrino ostial e ductal dérmico"},"pl":{"name":"Porokeratotic eccrine ostial and dermal duct nevus","synonyms":["Porokeratotyczne/Rogowaciejące znamię wydzielające","Znamię zaskórnikowe dłoni"]},"cs":{"name":"Porokeratotický ekrinní névus","synonyms":["Nevus comedonicus dlaně"]},"uk":{"name":"Порокератотичний еккринний остіальний та шкірний протоковий невус","synonyms":["Комедоподібний невус долоні","Порокератотичний еккринний невус"]},"zh":{"name":"汗孔角化性小汗腺口及皮肤导管痣","synonyms":["汗孔角化性小汗腺痣"]},"tr":{"name":"Porokeratotik ekrin ostial ve dermal kanal nevüs","synonyms":["Avuç içinde comedo nevüs","Porokeratotik ekrin nevüs"]}},"xrefs":[{"source":"ICD-10","code":"Q82.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LC02","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1041756082"},{"source":"MONDO","code":"0015635","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0473579","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":622914,"name":"Rare genetic nevus","classifications":[156]},{"orpha":294057,"name":"Rare nevus","classifications":[187,202]}],"children":[],"genes":[{"symbol":"GJB2","name":"gap junction protein beta 2","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"22592158[PMID]_25692760[PMID]_26215685[PMID]","hgnc":"4284","ensembl":"ENSG00000165474","omim":"121011","loci":["13q12.11"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":45.0,"area":"Worldwide","status":"Validated","source":"21393947[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21393947[PMID]"}],"phenotypes":null}