{"orpha":86923,"name":"Hereditary palmoplantar keratoderma, Gamborg-Nielsen type","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type","PPK, Gamborg-Nielsen type"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Mal de Meleda","url":"https://raremap.alftech.space/d/ORPHA-86923/","orphanet_url":"https://www.orpha.net/en/disease/detail/86923","names":{"fr":{"name":"Kératodermie palmoplantaire héréditaire type Gamborg-Nielsen","synonyms":["Hyperkératose palmoplantaire héréditaire type Gamborg-Nielsen","KPP type Gamborg-Nielsen","PPK type Gamborg-Nielsen"]},"de":{"name":"Palmoplantarkeratose, hereditäre, Typ Gamborg-Nielsen","synonyms":["PPK, Typ Gamborg-Nielsen","Palmoplantarkeratose, diffuse, rezessiver Typ Norbotten"]},"es":{"name":"Queratodermia palmoplantar hereditaria tipo Gamborg-Nielsen","synonyms":["Hiperqueratosis palmoplantar hereditaria tipo Gamborg-Nielsen","PPK tipo Gamborg-Nielsen"]},"it":{"name":"Cheratoderma palmoplantare ereditario, tipo Gamborg-Nielsen","synonyms":["Ipercheratosi palmoplantare ereditaria, tipo Gamborg-Nielsen","PPK, tipo Gamborg-Nielsen"]},"nl":{"name":"Hereditaire palmoplantaire keratodermie, Gamborg-Nielsen-type","synonyms":["Erfelijke palmoplantaire hyperkeratose, Gamborg-Nielsen-type","PPK, Gamborg-Nielsen-type"]},"pt":{"name":"Queratodermia palmoplantar hereditária, tipo Gamborg-Nielsen"},"pl":{"name":"Dziedziczny rogowiec dłoniowo-podeszwowy typu Gamborga i Nielsena","synonyms":["Dziedziczna hiperkeratoza dłoniowo-podeszwowa typu Gamborga i Nielsena","PPK, typ Gamborga i Nielsena"]},"cs":{"name":"Hereditární palmoplantární keratoderma, Gamborgův-Nielsenův typ","synonyms":["Dědičná palmoplantární hyperkeratóza, Gamborgův-Nielsenův typ","PPK, Gamborgův-Nielsenův typ","Hereditární palmoplantární keratoderma, Gamborg-Nielsenův typ","Dědičná palmoplantární hyperkeratóza, Gamborg-Nielsenův typ"]},"uk":{"name":"Спадкова долонно-підошовна кератодермія, тип Гамборга-Нільсена","synonyms":["Спадковий долонно-підошовний гіперкератоз, тип Гамборга-Нільсена","PPK, тип Гамборга-Нільсена"],"definition":"Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma (see these terms). Transmission is autosomal recessive."},"zh":{"name":"遗传性掌跖角化病，Gamborg-Nielsen型","synonyms":["遗传性掌跖角化过度，Gamborg-Nielsen型"]},"tr":{"name":"Kalıtsal palmoplantar keratoderma, Gamborg-Nielsen tipi","synonyms":["PPK, Gamborg-Nielsen türü","Kalıtsal palmoplantar hiperkeratoz, Gamborg-Nielsen tipi"]}},"xrefs":[{"source":"MONDO","code":"0009489","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4273986","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":87503,"name":"Mal de Meleda"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}