{"orpha":98357,"name":"Autosomal recessive disease with focal palmoplantar keratoderma as a major feature","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Autosomal recessive 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-98357/","orphanet_url":"https://www.orpha.net/en/disease/detail/98357","names":{"fr":{"name":"Maladie autosomique récessive avec kératodermie palmoplantaire focale comme manifestation majeure","synonyms":["Maladie autosomique récessive avec hyperkératose palmoplantaire focale comme manifestation majeure"]},"de":{"name":"Autosomal-rezessive Krankheit mit fokaler Palmoplantarkeratose als Hauptmerkmal"},"es":{"name":"Enfermedad autosómica recesiva con queratodermia palmoplantar focal como característica principal","synonyms":["Enfermedad autosómica recesiva con hiperqueratosis palmoplantar focal como característica principal"]},"it":{"name":"Malattia autosomica recessiva con cheratoderma palmoplantare focale come segno cardinale","synonyms":["Malattia autosomica recessiva con ipercheratosi palmoplantare focale come segno cardinale"]},"nl":{"name":"Autosomaal recessieve ziekte met focale palmoplantaire keratodermie als hoofdkenmerk","synonyms":["Autosomaal recessieve ziekte met focale palmoplantaire hyperkeratose als hoofdkenmerk"]},"pt":{"name":"Doença autossómica recessiva com queratodermia palmoplantar focal como característica principal","synonyms":["Doença autossómica recessiva com hiperqueratose palmoplantar focal como característica principal"]},"pl":{"name":"Autosomalna recesywna choroba z ogniskowym rogowcem dłoniowo-podeszwowym jako głównym objawem","synonyms":["Autosomalna recesywna choroba z ogniskową hiperkeratozą dłoniowo-podeszwową jako głównym objawem"]},"cs":{"name":"Autozomálně recesivní choroba s fokálním palmoplantárním keratoderma jakožto hlavním rysem","synonyms":["Autozomálně recesivní choroba s fokální palmoplantární hyperkeratózou jakožto hlavním rysem"]},"uk":{"name":"Аутосомно-рецесивне захворювання з вогнищевою долонно-підошовною кератодермією як основною ознакою","synonyms":["Аутосомно-рецесивне захворювання 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隐性遗传性疾病","synonyms":["以局灶性掌跖角化过度为主要表现的常染色体隐性遗传性疾病"]},"tr":{"name":"Esas klinik özelliği fokal palmoplantar keratoderma olan otozomal resesif hastalık","synonyms":["Esas klinik özelliği fokal palmoplantar hiperkeratoz olan otozomal çekinik hastalık"]}},"xrefs":[{"source":"UMLS","code":"C5680347","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":65282,"name":"Carvajal syndrome","type":"Disease"},{"orpha":423454,"name":"Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome","type":"Disease"},{"orpha":28378,"name":"Tyrosinemia type 2","type":"Disease"},{"orpha":420686,"name":"Woolly hair-palmoplantar keratoderma syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}