{"orpha":98353,"name":"Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature"],"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-98353/","orphanet_url":"https://www.orpha.net/en/disease/detail/98353","names":{"fr":{"name":"Maladie autosomique dominante avec une kératodermie palmoplantaire focale comme manifestation majeure","synonyms":["Maladie autosomique dominante avec une kératodermie hyperkératose focale comme manifestation majeure"]},"de":{"name":"Autosomal-dominante Krankheit mit assoziierter fokaler Palmoplantarkeratose als Hauptmerkmal"},"es":{"name":"Enfermedad autosómica dominante con queratodermia palmoplantar focal como característica principal","synonyms":["Enfermedad autosómica dominante con hiperqueratosis palmoplantar focal como característica principal"]},"it":{"name":"Malattia autosomica dominante associata a cheratoderma palmoplantare focale come segno cardinale","synonyms":["Malattia autosomica dominante associata a ipercheratosi palmoplantare focale come segno cardinale"]},"nl":{"name":"Autosomaal dominante ziekte geassocieerd met focale palmoplantaire keratodermie als hoofdkenmerk","synonyms":["Autosomaal dominante ziekte geassocieerd met focale palmoplantaire hyperkeratose als hoofdkenmerk"]},"pt":{"name":"Doença autossómica dominante com queratodermia palmoplantar focal como característica principal","synonyms":["Doença autossómica dominante com hiperqueratose palmoplantar focal como característica principal"]},"pl":{"name":"Autosomalna dominująca choroba z ogniskowym rogowcem dłoniowo-podeszwowym jako głównym objawem","synonyms":["Autosomalna dominująca choroba z ogniskową hiperkeratozą dłoniowo-podeszwową jako głównym objawem"]},"cs":{"name":"Autozomálně dominantní onemocnění asociované s fokální palmoplantární keratodermou jako hlavním znakem","synonyms":["Autozomálně dominantní onemocnění asociované s fokální palmoplantární hyperkeratózou jako hlavním znakem"]},"uk":{"name":"Аутосомно-домінантне захворювання, повязане з вогнищевою долонно-підошовною кератодермією як основною ознакою","synonyms":["Аутосомно-домінантне захворювання, повязане з вогнищевим долонно-підошовним гіперкератозом як основною ознакою"]},"zh":{"name":"以局灶掌跖角化为主要表现的常染色体显性遗传性疾病","synonyms":["以局灶性掌跖角化过度为主要表现的常染色体显性遗传性疾病"]},"tr":{"name":"Esas klinik özelliği fokal palmoplantar keratodermayla ilişki olan otozomal dominant hastalık","synonyms":["Esas klinik özelliği fokal palmoplantar hiperkeratoz olan otozomal dominant hastalık"]}},"xrefs":[{"source":"UMLS","code":"C5680345","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":307871,"name":"Disease with focal palmoplantar keratoderma as a major feature","classifications":[156,187]}],"children":[{"orpha":2200,"name":"Focal palmoplantar and gingival keratoderma","type":"Disease"},{"orpha":307936,"name":"Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome","type":"Disease"},{"orpha":2309,"name":"Pachyonychia congenita","type":"Disease"},{"orpha":2198,"name":"Palmoplantar keratoderma-esophageal carcinoma syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}