{"Name":"Erythrokeratoderma en cocardes","DiseaseID__c":"GARD:0001722","id":1722,"encodedName":"erythrokeratoderma-en-cocardes","IsDeleted":false,"Disease_Name_Full__c":"Erythrokeratoderma en cocardes","Xref_IDs__c":"239062001; C5848050; MEDGEN:1845700; MONDO:0017836; ORPHA:315","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":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017836","Disease_Description__c":"A rare, genetic, epidermal disorder characterized by intermittent (remitting and recurring), annular, polycyclic, target-like (or 'en cocardes') plaques with concentric rings of scaling erythema occurring on the extremities, flexural areas, and trunk. Concurrent erythrokeratoderma variabilis-like scaly plaques are commonly found in other parts of the body.","GARD_Name__c":"Erythrokeratoderma en cocardes","GARD_Synonym__c":"degos genodermatosis; degos genodermatosis \"en cocardes\"; erythrokeratoderma ''en cocardes''; erythrokeratoderma en cocarde (degos); erythrokeratoderma en cocardes (degos syndrome); maladie de degos","Curated_Disease_Description_Source__c":"MONDO:0017836","Curated_Disease_Description__c":"A rare, genetic, epidermal disorder characterized by intermittent (remitting and recurring), annular, polycyclic, target-like (or 'en cocardes') plaques with concentric rings of scaling erythema occurring on the extremities, flexural areas, and trunk. Concurrent erythrokeratoderma variabilis-like scaly plaques are commonly found in other parts of the body.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:315","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017836","ORPHANET_ID__c":"ORPHA:315","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Eritroqueratodermia en escarapela","Spanish_Description_Source__c":"ORPHA:315","Spanish_Description__c":"Es un trastorno epidérmico, de origen genético y poco frecuente, caracterizado por placas intermitentes (remitentes y recurrentes), anulares, policíclicas, con forma de diana (o en escarapela), con anillos concéntricos de eritema descamativo que aparecen en las extremidades, las áreas de flexión y el tronco. Con frecuencia se encuentran asociadas placas descamativas similares a las de la eritroqueratodermia variable en otras partes del cuerpo.","Spanish_Disease_Name__c":"eritroqueratodermia en escarapela","Spanish_GARD_Synonym__c":"eritroqueratodermia en escarapela de degos","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, epidermal disorder characterized by intermittent (remitting and recurring), annular, polycyclic, target-like (or 'en cocardes') plaques with concentric rings of scaling erythema occurring on the extremities, flexural areas, and trunk. Concurrent erythrokeratoderma variabilis-like scaly plaques are commonly found in other parts of the body.","Curated_Disease_Description_Source__c":"MONDO:0017836","GARD_Synonym__c":"degos genodermatosis; degos genodermatosis \"en cocardes\"; erythrokeratoderma ''en cocardes''; erythrokeratoderma en cocarde (degos); erythrokeratoderma en cocardes (degos syndrome); maladie de degos","Name":"Erythrokeratoderma en cocardes","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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:315"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=239062001","Source__c":"C5848050; MONDO:0017836","Xref__c":"239062001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5848050","Source__c":"C5848050","Xref__c":"C5848050"},{"URL__c":"https://www.orpha.net/en/disease/detail/315","Source__c":"C5848050; MONDO:0017836; ORPHA:315","Xref__c":"ORPHA:315"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1845700","Source__c":"C5848050","Xref__c":"MEDGEN:1845700"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017836","Source__c":"GARD:0001722","Xref__c":"MONDO:0017836"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:315","HPO_Frequency__c":"Very frequent (80-99%)","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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200034","HPO_Synonym__c":"Papules","HPO_Name__c":"Papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:315","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008069","HPO_Synonym__c":"Dermatological tumors; Skin tumors; Tumor of the skin","HPO_Name__c":"Neoplasm of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:315","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002664","HPO_Synonym__c":"Neoplasia; Oncological abnormality; Tumor; Tumour","HPO_Name__c":"Neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:315","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000962","HPO_Synonym__c":"Epidermal hyperkeratosis","HPO_Name__c":"Hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:315","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the pigmentation of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001000","HPO_Synonym__c":"Abnormal pigmentation; Abnormal skin color; Abnormal skin pigmentation; Abnormality of pigmentation; Abnormality of skin pigmentation; Pigmentary changes; Pigmentary skin changes; Pigmentation anomaly","HPO_Name__c":"Abnormality of skin pigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["degos genodermatosis"," degos genodermatosis \"en cocardes\""," erythrokeratoderma ''en cocardes''"," erythrokeratoderma en cocarde (degos)"," erythrokeratoderma en cocardes (degos syndrome)"," maladie de degos"]}