{"orpha":307804,"name":"Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Autosomal recessive 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-307804/","orphanet_url":"https://www.orpha.net/en/disease/detail/307804","names":{"fr":{"name":"Maladie autosomique récessive avec kératodermie palmoplantaire diffuse comme manifestation majeure","synonyms":["Maladie autosomique récessive avec hyperkératose palmoplantaire diffuse comme manifestation majeure"]},"de":{"name":"Autosomal-rezessive Krankheit mit diffuser Palmoplantarkeratose als Hauptmerkmal","synonyms":["Autosomal-rezessive Krankheit mit diffuser palmoplantarer Hyperkeratose als Hauptmerkmal"]},"es":{"name":"Enfermedad autosómica recesiva con queratodermia palmoplantar difusa como característica principal","synonyms":["Enfermedad autosómica recesiva con hiperqueratosis palmoplantar difusa como característica principal"]},"it":{"name":"Malattia autosomica recessiva con cheratoderma palmoplantare diffuso come segno cardinale","synonyms":["Malattia autosomica recessiva con ipercheratosi palmoplantare diffusa come segno cardinale"]},"nl":{"name":"Autosomaal recessieve ziekte met diffuse palmoplantaire keratodermie als hoofdkenmerk","synonyms":["Autosomaal recessieve ziekte met diffuse palmoplantaire hyperkeratose als hoofdkenmerk"]},"pt":{"name":"Doença autossómica recessiva com queratodermia palmoplantar difusa como característica principal","synonyms":["Doença autossómica recessiva com hiperqueratose palmoplantar difusa como característica principal"]},"pl":{"name":"Choroba autosomalna recesywna z rozlanym rogowcem dłoniowo-podeszwowym jako objawem głównym","synonyms":["Choroba autosomalna recesywna z rozlaną hiperkeratozą dłoniowo-podeszwową jako objawem głównym"]},"cs":{"name":"Autozomálně recesivní onemocnění s difuzní plantární keratodermou jako hlavním příznakem","synonyms":["Autozomálně recesivní onemocnění s palmoplantární hyperkeratózou jako hlavním příznakem"]},"uk":{"name":"Аутосомно-рецесивне захворювання з дифузною долонно-підошовною кератодермією як основною ознакою","synonyms":["Аутосомно-рецесивне захворювання з дифузним долонно-підошовним гіперкератозом як основною ознакою"]},"zh":{"name":"弥漫性掌跖角化症为主要特征常染色体隐性遗传病","synonyms":["弥漫性掌跖角化症为为主要特征常染色体隐性遗传病"]},"tr":{"name":"Esas klinik özelliği yaygın palmoplantar keratoderma olan otozomal resesif hastalık","synonyms":["Esas klinik özelliği yaygın palmoplantar hiperkeratoz olan otozomal çekinik hastalık"]}},"xrefs":[{"source":"MONDO","code":"17671","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679960","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":1366,"name":"Autosomal recessive palmoplantar keratoderma and congenital alopecia","type":"Disease"},{"orpha":66631,"name":"CEDNIK syndrome","type":"Disease"},{"orpha":2342,"name":"Haim-Munk syndrome","type":"Disease"},{"orpha":363523,"name":"Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome","type":"Disease"},{"orpha":477,"name":"KID syndrome","type":"Disease"},{"orpha":34217,"name":"Naxos disease","type":"Disease"},{"orpha":2721,"name":"Odonto-onycho-dermal dysplasia","type":"Disease"},{"orpha":85112,"name":"Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome","type":"Disease"},{"orpha":678,"name":"Papillon-Lefèvre syndrome","type":"Disease"},{"orpha":447961,"name":"Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome","type":"Disease"},{"orpha":50944,"name":"Schöpf-Schulz-Passarge syndrome","type":"Disease"},{"orpha":293165,"name":"Skin fragility-woolly hair-palmoplantar keratoderma syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}