{"Name":"Skin fragility-woolly hair-palmoplantar keratoderma syndrome","DiseaseID__c":"GARD:0005231","id":5231,"encodedName":"skin-fragility-woolly-hair-palmoplantar-keratoderma-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Skin fragility-woolly hair-palmoplantar keratoderma syndrome","Xref_IDs__c":"C4755263; C564359; MEDGEN:1659950; MONDO:0011882; ORPHA:293165","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:293165","Disease_Description__c":"Skin fragility-woolly hair-palmoplantar keratoderma syndrome is a rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated.","GARD_Name__c":"Skin fragility-woolly hair-palmoplantar keratoderma syndrome","GARD_Synonym__c":"skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome; skin fragility, wooly hair, palmoplantar keratoderma syndrome","Curated_Disease_Description_Source__c":"ORPHA:293165","Curated_Disease_Description__c":"A rare, genetic, ectodermal dysplasia syndrome characterised by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:293165","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011882","ORPHANET_ID__c":"ORPHA:293165","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de piel frágil-cabello lanoso-queratodermia palmoplantar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de piel frágil-cabello lanoso-queratodermia palmoplantar","Spanish_GARD_Synonym__c":"síndrome de piel frágil-cabello lanoso-hiperqueratosis palmoplantar","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, ectodermal dysplasia syndrome characterised by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated.","Curated_Disease_Description_Source__c":"ORPHA:293165","GARD_Synonym__c":"skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome; skin fragility, wooly hair, palmoplantar keratoderma syndrome","Name":"Skin fragility-woolly hair-palmoplantar keratoderma syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:293165"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1843292"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005231","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/293165","Source__c":"MONDO:0011882","Xref__c":"ORPHA:293165"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1659950","Source__c":"C4755263","Xref__c":"MEDGEN:1659950"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4755263","Source__c":"C4755263","Xref__c":"C4755263"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564359","Source__c":"MONDO:0011882","Xref__c":"C564359"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011882","Source__c":"GARD:0005231","Xref__c":"MONDO:0011882"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=778010006","Source__c":"C4755263","Xref__c":"778010006"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DSP","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dsp","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome"," skin fragility, wooly hair, palmoplantar keratoderma syndrome"]}