{"Name":"Epidermolytic palmoplantar keratoderma, 1","DiseaseID__c":"GARD:0002826","id":2826,"encodedName":"epidermolytic-palmoplantar-keratoderma-1","IsDeleted":false,"Disease_Name_Full__c":"Epidermolytic palmoplantar keratoderma, 1","Xref_IDs__c":"399955009; C84693; CN377798; DOID:0070552; MEDGEN:1053126; MONDO:0007758; OMIM:144200","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":7,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0007758","Disease_Description__c":"A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas.","GARD_Name__c":"Epidermolytic palmoplantar keratoderma, 1","GARD_Synonym__c":"diffuse erythrodermic palmoplantar keratoderma, voerner type; diffuse erythrodermic palmoplantar keratoderma, vörner type; epidermolytic palmoplantar keratoderma of voerner; epidermolytic palmoplantar keratoderma of vörner; eppk; eppk1; palmoplantar keratoderma, epidermolytic, with knuckle pads; tylosis","Curated_Disease_Description_Source__c":"MONDO:0007758","Curated_Disease_Description__c":"A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:2199","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007758","ORPHANET_ID__c":"ORPHA:2199","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:89826","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":"A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas.","Curated_Disease_Description_Source__c":"MONDO:0007758","GARD_Synonym__c":"diffuse erythrodermic palmoplantar keratoderma, voerner type; diffuse erythrodermic palmoplantar keratoderma, vörner type; epidermolytic palmoplantar keratoderma of voerner; epidermolytic palmoplantar keratoderma of vörner; eppk; eppk1; palmoplantar keratoderma, epidermolytic, with knuckle pads; tylosis","Name":"Epidermolytic palmoplantar keratoderma, 1","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1721006"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002826","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=399955009","Source__c":"MONDO:0007758","Xref__c":"399955009"},{"URL__c":"https://www.omim.org/entry/144200","Source__c":"MONDO:0007758","Xref__c":"OMIM:144200"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84693","Source__c":"MONDO:0007758","Xref__c":"C84693"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070552","Source__c":"MONDO:0007758","Xref__c":"DOID:0070552"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1053126","Source__c":"CN377798","Xref__c":"MEDGEN:1053126"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN377798","Source__c":"CN377798","Xref__c":"CN377798"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007758","Source__c":"GARD:0002826","Xref__c":"MONDO:0007758"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KRT9","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:144200","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000972","HPO_Synonym__c":"Hyperkeratosis of palms and soles; Hyperkeratosis of the palms and soles; Palmoplantar keratoses; Palmoplantar keratosis; Thick palms and soles; Thickened palms and soles; Thickening of the outer layer of the skin of the palms and soles","HPO_Name__c":"Palmoplantar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:144200","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin localized to the palm of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010765","HPO_Name__c":"Palmar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:144200","Feature__r":{"HPO_Description__c":"An abnormally increased overall level of immunoglobulin E in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003212","HPO_Synonym__c":"Elevated immunoglobulin E; Elevated serum IgE; High immunoglobulin E; Increased circulating IgE level","HPO_Name__c":"Increased circulating IgE concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:144200","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007559","HPO_Name__c":"Localized epidermolytic hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:144200","Feature__r":{"HPO_Description__c":"Hyperkeratosis affecting the sole of the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007556","HPO_Synonym__c":"Plantar hyperkeratoses","HPO_Name__c":"Plantar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology"],"Account":["Dermatology"]},"synonyms":["diffuse erythrodermic palmoplantar keratoderma, voerner type"," diffuse erythrodermic palmoplantar keratoderma, vörner type"," epidermolytic palmoplantar keratoderma of voerner"," epidermolytic palmoplantar keratoderma of vörner"," eppk"," eppk1"," palmoplantar keratoderma, epidermolytic, with knuckle pads"," tylosis"]}