{"orpha":308023,"name":"Disease with punctate palmoplantar keratoderma as a major feature","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Disease with punctate 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-308023/","orphanet_url":"https://www.orpha.net/en/disease/detail/308023","names":{"fr":{"name":"Maladie avec une kératodermie palmoplantaire ponctuée comme manifestation majeure","synonyms":["Maladie avec une hyperkératose palmoplantaire ponctuée comme manifestation majeure"]},"de":{"name":"Seltene Krankheit mit punktierter Palmoplantarkeratose als Hauptmerkmal","synonyms":["Seltene Krankheit mit punktierter palmoplantarer Hyperkeratose als Hauptmerkmal"]},"es":{"name":"Enfermedad con queratodermia palmoplantar punctata como característica principal","synonyms":["Enfermedad con hiperqueratosis palmoplantar punctata como característica principal"]},"it":{"name":"Malattia con cheratoderma palmoplantare puntato come segno cardinale","synonyms":["Malattia con ipercheratosi palmoplantare come segno cardinale"]},"nl":{"name":"Ziekte met puntvormige palmoplantaire keratodermie als hoofdkenmerk","synonyms":["Ziekte met puntvormige hyperkeratose van handpalm of voetzool als hoofdkenmerk","Ziekte met puntvormige keratodermie van handpalm of voetzool als hoofdkenmerk","Ziekte met puntvormige palmoplantaire hyperkeratose als hoofdkenmerk"]},"pt":{"name":"Doença com queratodermia palmoplantar punctiforme como característica principal","synonyms":["Doença com hiperqueratose palmoplantar punctiforme como característica principal"]},"pl":{"name":"Choroba z rogowcem dłoniowo-podeszwowym punktowym jako objawem głównym","synonyms":["Choroba z hiperkeratozą dłoniowo-podeszwową punktową jako objawem głównym"]},"cs":{"name":"Onemocnění s keratoderma plantaris punctata jako hlavním příznakem","synonyms":["Onemocnění s tečkovanou palmoplantární hyperkeratózou jako hlavním příznakem"]},"uk":{"name":"Захворювання, основною ознакою якого є точкова долонно-підошовна кератодермія","synonyms":["Захворювання, основною ознакою якого є точковий долонно-підошовний гіперкератоз"]},"zh":{"name":"点状掌跖角化病为主要特征的疾病","synonyms":["点状掌跖角化病为主要特征的疾病"]},"tr":{"name":"Esas klinik özelliği noktalı palmoplantar keratoderma olan hastalık","synonyms":["Esas klinik özelliği punktata palmoplantar hiperkeratoz olan hastalık"]}},"xrefs":[{"source":"MONDO","code":"17678","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679965","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":307967,"name":"Punctate palmoplantar keratoderma","classifications":[156,187]}],"children":[{"orpha":308031,"name":"Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature","type":"Category"},{"orpha":308041,"name":"Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}