{"Name":"Pityriasis rubra pilaris","DiseaseID__c":"GARD:0007401","id":7401,"encodedName":"pityriasis-rubra-pilaris","IsDeleted":false,"Disease_Name_Full__c":"Pityriasis rubra pilaris","Xref_IDs__c":"3755001; C0032027; C85014; D010916; DOID:9212; L44.0; MEDGEN:45939; MONDO:0100017","USA_Estimate__c":"5,000","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":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0100017","Disease_Description__c":"A group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair. There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present. This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP).","GARD_Name__c":"Pityriasis rubra pilaris","GARD_Synonym__c":"devergie's disease; lichen ruber acuminatus; pityriasis rubra pilaris--familial type; prp; prp - pityriasis rubra pilaris","Curated_Disease_Description_Source__c":"GARD:0007401","Curated_Disease_Description__c":"Pityriasis rubra pilaris (PRP) refers to a group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair. In most cases, PRP is not inherited and the cause is not known. In some people, particularly some with type V (the 'atypical juvenile type'), PRP has autosomal dominant inheritance and may be caused by genetic changes in the CARD14 gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:2897","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0100017","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":"Pityriasis rubra pilaris (PRP) refers to a group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair. In most cases, PRP is not inherited and the cause is not known. In some people, particularly some with type V (the 'atypical juvenile type'), PRP has autosomal dominant inheritance and may be caused by genetic changes in the CARD14 gene.","Curated_Disease_Description_Source__c":"GARD:0007401","GARD_Synonym__c":"devergie's disease; lichen ruber acuminatus; pityriasis rubra pilaris--familial type; prp; prp - pityriasis rubra pilaris","Name":"Pityriasis rubra pilaris","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.org/"},{"Account_Name__c":"PRP Alliance","Website__c":"http://prpalliance.org"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0032027"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007401","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C010916","Source__c":"C0032027; MONDO:0100017","Xref__c":"D010916"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A9212","Source__c":"MONDO:0100017","Xref__c":"DOID:9212"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=3755001","Source__c":"C0032027; MONDO:0100017","Xref__c":"3755001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0032027","Source__c":"C0032027","Xref__c":"C0032027"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85014","Source__c":"C0032027; MONDO:0100017","Xref__c":"C85014"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/L44.0","Source__c":"MONDO:0100017","Xref__c":"L44.0"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=45939","Source__c":"C0032027","Xref__c":"MEDGEN:45939"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0100017","Source__c":"GARD:0007401","Xref__c":"MONDO:0100017"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CARD14","GHR_URL__c":"https://medlineplus.gov/genetics/gene/card14","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{},"synonyms":["devergie's disease"," lichen ruber acuminatus"," pityriasis rubra pilaris--familial type"," prp"," prp - pityriasis rubra pilaris"]}