{"Name":"Keratosis palmoplantaris striata 3","DiseaseID__c":"GARD:0009173","id":9173,"encodedName":"keratosis-palmoplantaris-striata-3","IsDeleted":false,"Disease_Name_Full__c":"Keratosis palmoplantaris striata 3","Xref_IDs__c":"C2931123; C536163; DOID:0081110; MEDGEN:418996; MONDO:0011881; OMIM:607654","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":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0011881","Disease_Description__c":"Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene.","GARD_Name__c":"Keratosis palmoplantaris striata 3","GARD_Synonym__c":"keratoderma, palmoplantar, striate form iii; keratosis palmoplantaris striata iii; keratosis palmoplantaris striata type 3; krt1 striate palmoplantar keratoderma; ppks3; striate palmoplantar keratoderma caused by mutation in krt1; striate palmoplantar keratoderma iii","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Keratosis palmoplantaris striata III (PPKS3) is a genetic  condition that affects the skin.  It causes patches of thick, scaly skin on the palms of the hands and soles of the feet. It is caused by a change in the keratin-1 (KRT1) gene and is inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:607654","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011881","ORPHANET_ID__c":null,"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":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":"Keratosis palmoplantaris striata III (PPKS3) is a genetic  condition that affects the skin.  It causes patches of thick, scaly skin on the palms of the hands and soles of the feet. It is caused by a change in the keratin-1 (KRT1) gene and is inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"keratoderma, palmoplantar, striate form iii; keratosis palmoplantaris striata iii; keratosis palmoplantaris striata type 3; krt1 striate palmoplantar keratoderma; ppks3; striate palmoplantar keratoderma caused by mutation in krt1; striate palmoplantar keratoderma iii","Name":"Keratosis palmoplantaris striata 3","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.org/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2931123"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009173","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536163","Source__c":"MONDO:0011881","Xref__c":"C536163"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=418996","Source__c":"C2931123","Xref__c":"MEDGEN:418996"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081110","Source__c":"MONDO:0011881","Xref__c":"DOID:0081110"},{"URL__c":"https://www.omim.org/entry/607654","Source__c":"C2931123; MONDO:0011881","Xref__c":"OMIM:607654"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931123","Source__c":"C2931123","Xref__c":"C2931123"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011881","Source__c":"GARD:0009173","Xref__c":"MONDO:0011881"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KRT1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/krt1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:607654","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin of the palms of the hands and the soles of the feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000982","HPO_Synonym__c":"Keratoderma; Palmar and plantar keratoderma; Thickening of palms and soles","HPO_Name__c":"Palmoplantar keratoderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["keratoderma, palmoplantar, striate form iii"," keratosis palmoplantaris striata iii"," keratosis palmoplantaris striata type 3"," krt1 striate palmoplantar keratoderma"," ppks3"," striate palmoplantar keratoderma caused by mutation in krt1"," striate palmoplantar keratoderma iii"]}