{"Name":"Focal palmoplantar keratoderma with joint keratoses","DiseaseID__c":"GARD:0017596","id":17596,"encodedName":"focal-palmoplantar-keratoderma-with-joint-keratoses","IsDeleted":false,"Disease_Name_Full__c":"Focal palmoplantar keratoderma with joint keratoses","Xref_IDs__c":"778051008; C4755302; MEDGEN:1667811; MONDO:0018252; ORPHA:370002","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:370002","Disease_Description__c":"Focal palmoplantar keratoderma with joint keratoses is a rare, genetic, isolated palmoplantar keratoderma disorder characterized by focal hyperkeratotic lesions affecting the pressure- and mechanical trauma-bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints.","GARD_Name__c":"Focal palmoplantar keratoderma with joint keratoses","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:370002","Curated_Disease_Description__c":"A rare, genetic, isolated palmoplantar keratoderma characterized by focal hyperkeratotic lesions affecting the pressure- and mechanical trauma-bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:370002","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018252","ORPHANET_ID__c":"ORPHA:370002","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Queratodermia palmoplantar focal con queratosis en las articulaciones","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"queratodermia palmoplantar focal con queratosis en las articulaciones","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 rare, genetic, isolated palmoplantar keratoderma characterized by focal hyperkeratotic lesions affecting the pressure- and mechanical trauma-bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints.","Curated_Disease_Description_Source__c":"ORPHA:370002","Name":"Focal palmoplantar keratoderma with joint keratoses","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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:370002"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:370002"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1667811","Source__c":"C4755302","Xref__c":"MEDGEN:1667811"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4755302","Source__c":"C4755302","Xref__c":"C4755302"},{"URL__c":"https://www.orpha.net/en/disease/detail/370002","Source__c":"C4755302; MONDO:0018252; ORPHA:370002","Xref__c":"ORPHA:370002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018252","Source__c":"GARD:0017596","Xref__c":"MONDO:0018252"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=778051008","Source__c":"C4755302","Xref__c":"778051008"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DSG1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":[""]}