{"Name":"Hereditary painful callosities","DiseaseID__c":"GARD:0016705","id":16705,"encodedName":"hereditary-painful-callosities","IsDeleted":false,"Disease_Name_Full__c":"Hereditary painful callosities","Xref_IDs__c":"C1861964; C566180; MEDGEN:349400; MONDO:0007248; OMIM:114140; ORPHA:79141","USA_Estimate__c":"1,000","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":"1 to 8,000","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:0007248","Disease_Description__c":"A rare focal palmoplantar keratoderma disorder characterized by the development of thick, painful, non-erythematous, nummular keratotic lesions over pressure points of feet and possibly hands. Occasionally, knee and shin involvement, periungual/subungual hyperkeratoses, and blistering at the edge of the calluses, may be observed.","GARD_Name__c":"Hereditary painful callosities","GARD_Synonym__c":"callosities, painful plantar; keratosis palmoplantaris nummularis; plamoplantar hyperkeratosis nummularis; plamoplantar keratoderma nummularis; ppk nummularis","Curated_Disease_Description_Source__c":"MONDO:0007248","Curated_Disease_Description__c":"A rare focal palmoplantar keratoderma disorder characterized by the development of thick, painful, non-erythematous, nummular keratotic lesions over pressure points of feet and possibly hands. Occasionally, knee and shin involvement, periungual/subungual hyperkeratoses, and blistering at the edge of the calluses, may be observed.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:79141","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007248","ORPHANET_ID__c":"ORPHA:79141","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Callosidades dolorosas hereditarias","Spanish_Description_Source__c":"ORPHA:79141","Spanish_Description__c":"Es una queratodermia palmoplantar focal poco frecuente caracterizada por el desarrollo de lesiones queratósicas numulares gruesas, dolorosas y no eritematosas, sobre puntos de presión en los pies y, posiblemente, en las manos. En ocasiones se puede observar afectación de la rodilla y la espinilla, hiperqueratosis peri-/ subungueal y ampollas en el borde de los callos.","Spanish_Disease_Name__c":"callosidades dolorosas hereditarias","Spanish_GARD_Synonym__c":"hiperqueratosis palmoplantar numular; ppk numular; queratodermia palmoplantar numular; queratosis palmoplantar numular","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 focal palmoplantar keratoderma disorder characterized by the development of thick, painful, non-erythematous, nummular keratotic lesions over pressure points of feet and possibly hands. Occasionally, knee and shin involvement, periungual/subungual hyperkeratoses, and blistering at the edge of the calluses, may be observed.","Curated_Disease_Description_Source__c":"MONDO:0007248","GARD_Synonym__c":"callosities, painful plantar; keratosis palmoplantaris nummularis; plamoplantar hyperkeratosis nummularis; plamoplantar keratoderma nummularis; ppk nummularis","Name":"Hereditary painful callosities","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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"No data available","Provided_By__c":"ORPHA:79141"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=349400","Source__c":"C1861964","Xref__c":"MEDGEN:349400"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1861964","Source__c":"C1861964","Xref__c":"C1861964"},{"URL__c":"https://www.orpha.net/en/disease/detail/79141","Source__c":"C1861964; MONDO:0007248; ORPHA:79141","Xref__c":"ORPHA:79141"},{"URL__c":"https://www.omim.org/entry/114140","Source__c":"C1861964; MONDO:0007248; ORPHA:79141","Xref__c":"OMIM:114140"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566180","Source__c":"MONDO:0007248","Xref__c":"C566180"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007248","Source__c":"GARD:0016705","Xref__c":"MONDO:0007248"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79141","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012531","HPO_Synonym__c":"Pain","HPO_Name__c":"Pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79141","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005588","HPO_Synonym__c":"Palmoplantar keratoderma, patchy; Patchy palmoplantar keratoderma","HPO_Name__c":"Patchy palmoplantar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology"],"Account":["Dermatology"]},"synonyms":["callosities, painful plantar"," keratosis palmoplantaris nummularis"," plamoplantar hyperkeratosis nummularis"," plamoplantar keratoderma nummularis"," ppk nummularis"]}