{"orpha":307871,"name":"Disease with focal palmoplantar keratoderma as a major feature","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Disease 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-307871/","orphanet_url":"https://www.orpha.net/en/disease/detail/307871","names":{"fr":{"name":"Maladie avec une kératodermie palmoplantaire focale comme manifestation majeure","synonyms":["Maladie avec une hyperkératose palmoplantaire focale comme manifestation majeure"]},"de":{"name":"Krankheit mit fokaler Palmoplantarkeratose als Hauptmerkmal","synonyms":["Seltene Krankheit mit fokaler palmoplantarer Hyperkeratose als Hauptmerkmal"]},"es":{"name":"Enfermedad con queratodermia palmoplantar focal como característica principal","synonyms":["Enfermedad con hiperqueratosis palmoplantar focal como característica principal"]},"it":{"name":"Malattia con cheratoderma palmoplantare focale come segno cardinale","synonyms":["Malattia con ipercheratosi palmoplantare focale come segno cardinale"]},"nl":{"name":"Ziekte met focale palmoplantaire keratodermie als hoofdkenmerk","synonyms":["Ziekte met focale palmoplantaire hyperkeratose als hoofdkenmerk"]},"pt":{"name":"Doença com queratodermia palmoplantar focal como característica principal","synonyms":["Doença com hiperqueratose palmoplantar focal como característica principal"]},"pl":{"name":"Choroba z rogowcem dłooniowo-podeszwowym ogniskowym jako objawem głównym","synonyms":["Choroba z hiperkeratozą dłoniowo-podeszwową ogniskową jako objawem głównym"]},"cs":{"name":"Onemocnění s fokální plantární keratodermou jako hlavním příznakem","synonyms":["Onemocnění s fokální palmoplantární hyperkeratózou jako hlavním příznakem"]},"uk":{"name":"Захворювання з фокальною долонно-підошовною кератодермією як основною ознакою","synonyms":["Захворювання з фокальним долонно-підошовним гіперкератозом як основною ознакою"]},"zh":{"name":"局灶性掌跖角化症为主要特征的疾病","synonyms":["局灶性掌跖角化症为主要特征的疾病"]},"tr":{"name":"Esas klinik özelliği fokal palmoplantar keratoderma olan hastalık","synonyms":["Esas klinik özelliği fokal palmoplantar hiperkeratoz olan hastalık"]}},"xrefs":[{"source":"MONDO","code":"17674","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679963","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":307837,"name":"Focal palmoplantar keratoderma","classifications":[156,187]}],"children":[{"orpha":98353,"name":"Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature","type":"Category"},{"orpha":98357,"name":"Autosomal recessive disease with focal palmoplantar keratoderma as a major feature","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}