{"orpha":98349,"name":"Autosomal dominant isolated diffuse palmoplantar keratoderma","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Autosomal dominant isolated diffuse palmoplantar hyperkeratosis"],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-98349/","orphanet_url":"https://www.orpha.net/en/disease/detail/98349","names":{"fr":{"name":"Kératodermie palmoplantaire diffuse isolée autosomique dominante","synonyms":["Hyperkératose palmoplantaire diffuse isolée autosomique dominante"]},"de":{"name":"Palmoplantarkeratose, autosomal-dominante, isolierte diffuse"},"es":{"name":"Queratodermia palmoplantar difusa aislada autosómica dominante","synonyms":["Hiperqueratosis palmoplantar difusa aislada autosómica dominante"]},"it":{"name":"Cheratoderma palmoplantare diffuso isolato autosomico dominante","synonyms":["Ipercheratosi palmoplantare diffusa isolata autosomica dominante"]},"nl":{"name":"Autosomaal dominante geïsoleerde diffuse palmoplantaire keratodermie","synonyms":["Autosomaal dominante geïsoleerde diffuse palmoplantaire hyperkeratose"]},"pt":{"name":"Queratodermia palmoplantar difusa autossómica dominante isolada","synonyms":["Hiperqueratose palmoplantar difusa autossómica dominante isolada"]},"pl":{"name":"Autosomalny dominujący izolowany rozlany rogowiec dłoniowo-podeszwowy","synonyms":["Autosomalna dominująca izolowana rozlana hiperkeratoza dłoniowo-podeszwowa"]},"cs":{"name":"Autozomálně dominantní izolované difuzní palmoplantární keratoderma","synonyms":["Autozomálně dominantní izolovaná difuzní palmoplantární hyperkeratóza"]},"uk":{"name":"Аутосомно-домінантна ізольована дифузна долонно-підошовна кератодермія","synonyms":["Аутосомно-домінантний ізольований дифузний долонно-підошовний гіперкератоз"]},"zh":{"name":"常染色体显性遗传性孤立型弥漫性掌跖角化病","synonyms":["常染色体显性遗传性孤立性弥漫性掌跖角化过度"]},"tr":{"name":"Otozomal dominant izole diffüz palmoplantar keratoderma","synonyms":["Otozomal dominant izole yaygın palmoplantar hiperkeratoz"]}},"xrefs":[{"source":"UMLS","code":"C5680349","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":307148,"name":"Isolated diffuse palmoplantar keratoderma","classifications":[156,187]}],"children":[{"orpha":369999,"name":"Diffuse palmoplantar keratoderma with painful fissures","type":"Disease"},{"orpha":2337,"name":"Diffuse palmoplantar keratoderma, Bothnian type","type":"Disease"},{"orpha":2199,"name":"Epidermolytic palmoplantar keratoderma","type":"Disease"},{"orpha":530838,"name":"KRT1-related diffuse nonepidermolytic keratoderma","type":"Disease"},{"orpha":495,"name":"Transgrediens et progrediens palmoplantar keratoderma","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}