{"Name":"Porokeratosis of Mantoux","DiseaseID__c":"GARD:0016542","id":16542,"encodedName":"porokeratosis-of-mantoux","IsDeleted":false,"Disease_Name_Full__c":"Porokeratosis of Mantoux","Xref_IDs__c":"718218005; C0162838; MEDGEN:56517; MONDO:0008291; OMIM:175850; ORPHA:737","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008291","Disease_Description__c":"A rare genetic disease which is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually spread to other body zones.","GARD_Name__c":"Porokeratosis of Mantoux","GARD_Synonym__c":"keratoderma palmoplantar, punctate type 2; palmar, plantar and disseminated porokeratosis; porok2; porokeratosis 2, palmar, plantar, and disseminated; porokeratosis 2, palmar, plantar, and disseminated type; porokeratosis plantaris palmaris et disseminata; porokeratosis, palmar, plantar, and disseminated; porokeratosis, palmar, plantar, and disseminated, 1; porokeratosis, palmoplantar; type 2 punctate ppk","Curated_Disease_Description_Source__c":"MONDO:0008291","Curated_Disease_Description__c":"A rare genetic disease which is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually spread to other body zones.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:737","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008291","ORPHANET_ID__c":"ORPHA:737","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Poroqueratosis palmar, plantar y diseminada","Spanish_Description_Source__c":"ORPHA:737","Spanish_Description__c":"Es una enfermedad de origen genético poco frecuente, y una forma poco común de poroqueratosis que se presenta principalmente en la adolescencia, caracterizada por pequeñas pápulas queratósicas pruriginosas o dolorosas que aparecen inicialmente en las palmas de las manos y las plantas de los pies, y que pueden extenderse gradualmente a otras áreas del cuerpo.","Spanish_Disease_Name__c":"poroqueratosis palmar, plantar y diseminada","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 disease which is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually spread to other body zones.","Curated_Disease_Description_Source__c":"MONDO:0008291","GARD_Synonym__c":"keratoderma palmoplantar, punctate type 2; palmar, plantar and disseminated porokeratosis; porok2; porokeratosis 2, palmar, plantar, and disseminated; porokeratosis 2, palmar, plantar, and disseminated type; porokeratosis plantaris palmaris et disseminata; porokeratosis, palmar, plantar, and disseminated; porokeratosis, palmar, plantar, and disseminated, 1; porokeratosis, palmoplantar; type 2 punctate ppk","Name":"Porokeratosis of Mantoux","estimateUsa":""}],"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":"Adolescent","Provided_By__c":"ORPHA:737"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:737"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718218005","Source__c":"C0162838; MONDO:0008291","Xref__c":"718218005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0162838","Source__c":"C0162838","Xref__c":"C0162838"},{"URL__c":"https://www.omim.org/entry/175850","Source__c":"C0162838; MONDO:0008291; ORPHA:737","Xref__c":"OMIM:175850"},{"URL__c":"https://www.orpha.net/en/disease/detail/737","Source__c":"C0162838; MONDO:0008291; ORPHA:737","Xref__c":"ORPHA:737"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=56517","Source__c":"C0162838","Xref__c":"MEDGEN:56517"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008291","Source__c":"GARD:0016542","Xref__c":"MONDO:0008291"}],"Inheritance__c":["X-linked dominant","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:737","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the plantar part of foot, that is of the soles of the feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100872","HPO_Synonym__c":"Minor feet anomalies","HPO_Name__c":"Abnormality of the plantar skin of foot","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:737","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200035","HPO_Name__c":"Skin plaque","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:737","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:737","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002814","HPO_Synonym__c":"Abnormality of the leg; Abnormality of the lower limb; Lower limb deformities","HPO_Name__c":"Abnormality of the lower limb","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:737","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045059","HPO_Name__c":"Hyperkeratotic papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:737","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200044","HPO_Name__c":"Porokeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:737","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000972","HPO_Synonym__c":"Hyperkeratosis of palms and soles; Hyperkeratosis of the palms and soles; Palmoplantar keratoses; Palmoplantar keratosis; Thick palms and soles; Thickened palms and soles; Thickening of the outer layer of the skin of the palms and soles","HPO_Name__c":"Palmoplantar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:737","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin of the palm, that is, the skin of the front of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040211","HPO_Name__c":"Abnormal skin morphology of the palm","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:737","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A lesion of the skin with a ring-like distribution.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025528","HPO_Name__c":"Annular cutaneous lesion","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:737","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin that is not localized to any one particular region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011354","HPO_Synonym__c":"Generalised abnormality of skin; Generalized abnormality of skin","HPO_Name__c":"Generalized abnormality of skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["keratoderma palmoplantar, punctate type 2"," palmar, plantar and disseminated porokeratosis"," porok2"," porokeratosis 2, palmar, plantar, and disseminated"," porokeratosis 2, palmar, plantar, and disseminated type"," porokeratosis plantaris palmaris et disseminata"," porokeratosis, palmar, plantar, and disseminated"," porokeratosis, palmar, plantar, and disseminated, 1"," porokeratosis, palmoplantar"," type 2 punctate ppk"]}