{"Name":"Hereditary palmoplantar keratoderma, Gamborg-Nielsen type","DiseaseID__c":"GARD:0016767","id":16767,"encodedName":"hereditary-palmoplantar-keratoderma-gamborg-nielsen-type","IsDeleted":false,"Disease_Name_Full__c":"Hereditary palmoplantar keratoderma, Gamborg-Nielsen type","Xref_IDs__c":"717228004; C565454; CN031296; MEDGEN:1876535; MONDO:0009489","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0009489","Disease_Description__c":"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.","GARD_Name__c":"Hereditary palmoplantar keratoderma, Gamborg-Nielsen type","GARD_Synonym__c":"hereditary palmoplantar hyperkeratosis, gamborg-nielsen type; ppk, gamborg-nielsen type","Curated_Disease_Description_Source__c":"ORPHA:86923","Curated_Disease_Description__c":"Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. 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. Transmission is autosomal recessive.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:86923","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009489","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":"ORPHA:86923","Spanish_Description__c":"El queratoderma palmoplantar hereditario de tipo Gamborg-Nielsen se caracteriza por la presencia de queratoderma palmoplantar difuso sin otros síntomas asociados. El síndrome se ha descrito en múltiples familias de la parte más septentrional de Suecia (Norrbotten). El queratoderma palmoplantar descrito en la enfermedad de tipo Gamborg-Nielsen es menos grave que el encontrado en el Mal de Meleda, pero igual de grave que el encontrado en el queratoderma palmoplantar de tipo Thost-Unna (ver estos términos). La transmisión es autosómica recesiva.","Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. 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. Transmission is autosomal recessive.","Curated_Disease_Description_Source__c":"ORPHA:86923","GARD_Synonym__c":"hereditary palmoplantar hyperkeratosis, gamborg-nielsen type; ppk, gamborg-nielsen type","Name":"Hereditary palmoplantar keratoderma, Gamborg-Nielsen type","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565454","Source__c":"MONDO:0009489","Xref__c":"C565454"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717228004","Source__c":"MONDO:0009489","Xref__c":"717228004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009489","Source__c":"GARD:0016767","Xref__c":"MONDO:0009489"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN031296","Source__c":"CN031296","Xref__c":"CN031296"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1876535","Source__c":"CN031296","Xref__c":"MEDGEN:1876535"}],"tags":{},"synonyms":["hereditary palmoplantar hyperkeratosis, gamborg-nielsen type"," ppk, gamborg-nielsen type"]}