{"orpha":98352,"name":"Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Autosomal dominant disease with diffuse 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-98352/","orphanet_url":"https://www.orpha.net/en/disease/detail/98352","names":{"fr":{"name":"Maladie autosomique dominante avec kératodermie palmoplantaire diffuse comme manifestation majeure","synonyms":["Maladie autosomique dominante avec hyperkératose palmoplantaire diffuse comme manifestation majeure"]},"de":{"name":"Autosomal-dominante Krankheit mit assoziierter diffuser Palmoplantarkeratose als Hauptmerkmal"},"es":{"name":"Enfermedad autosómica dominante con queratodermia palmoplantar difusa como característica principal","synonyms":["Enfermedad autosómica dominante con hiperqueratosis palmoplantar difusa como característica principal"]},"it":{"name":"Malattia autosomica dominante con cheratoderma palmoplantare diffuso come segno cardinale","synonyms":["Malattia autosomica dominante con ipercheratosi palmoplantare diffuso come segno cardinale"]},"nl":{"name":"Autosomaal dominante ziekte met diffuse palmoplantaire keratodermie als hoofdkenmerk","synonyms":["Autosomaal dominante ziekte met diffuse palmoplantaire hyperkeratose als hoofdkenmerk"]},"pt":{"name":"Doença autossómica dominante com queratodermia palmoplantar difusa como característica principal","synonyms":["Doença autossómica dominante com hiperqueratose palmoplantar difusa como característica principal"]},"pl":{"name":"Autosomalna dominująca choroba z rozlanym rogowcem dłoniowo-podeszwowym jako głównym objawem","synonyms":["Autosomalna dominująca choroba z rozlaną hiperkeratozą dłoniowo-podeszwową jako głównym objawem"]},"cs":{"name":"Autozomálně dominantní onemocnění s difuzní palmoplantární keratodermou jako hlavním znakem","synonyms":["Autozomálně dominantní onemocnění s difuzní palmoplantární hyperkeratózou jako hlavním znakem"]},"uk":{"name":"Аутосомно-домінантне захворювання з дифузною долонно-підошовною кератодермією як основною ознакою","synonyms":["Аутосомно-домінантне захворювання з дифузним долонно-підошовним гіперкератозом як основною ознакою"]},"zh":{"name":"以弥漫性掌跖角化为主要表现的常染色体显性遗传性疾病","synonyms":["以弥漫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 yaygın palmoplantar keratoderma olan otozomal dominant hastalık","synonyms":["Esas klinik özelliği yaygın palmoplantar hiperkeratoz olan otozomal dominant hastalık"]}},"xrefs":[{"source":"UMLS","code":"C5680344","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":307711,"name":"Disease with diffuse palmoplantar keratoderma as a major feature","classifications":[156,187]}],"children":[{"orpha":307773,"name":"Autosomal dominant diffuse mutilating palmoplantar keratoderma","type":"Clinical group"},{"orpha":1010,"name":"Autosomal dominant palmoplantar keratoderma and congenital alopecia","type":"Disease"},{"orpha":352662,"name":"Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome","type":"Disease"},{"orpha":307766,"name":"Curly hair-acral keratoderma-caries syndrome","type":"Disease"},{"orpha":86920,"name":"Dermatopathia pigmentosa reticularis","type":"Disease"},{"orpha":86918,"name":"Diffuse palmoplantar keratoderma-acrocyanosis syndrome","type":"Disease"},{"orpha":189,"name":"Hidrotic ectodermal dysplasia","type":"Disease"},{"orpha":384,"name":"Huriez syndrome","type":"Disease"},{"orpha":477,"name":"KID syndrome","type":"Disease"},{"orpha":86919,"name":"Keratosis palmaris et plantaris-clinodactyly syndrome","type":"Disease"},{"orpha":2698,"name":"Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome","type":"Disease"},{"orpha":69087,"name":"Naegeli-Franceschetti-Jadassohn syndrome","type":"Disease"},{"orpha":2202,"name":"Palmoplantar keratoderma-deafness syndrome","type":"Disease"},{"orpha":538574,"name":"Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome","type":"Disease"},{"orpha":316,"name":"Progressive symmetric erythrokeratodermia","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}