{"Name":"Annular epidermolytic ichthyosis","DiseaseID__c":"GARD:0017304","id":17304,"encodedName":"annular-epidermolytic-ichthyosis","IsDeleted":false,"Disease_Name_Full__c":"Annular epidermolytic ichthyosis","Xref_IDs__c":"718631006; C1843463; C564367; MEDGEN:334410; MONDO:0011870; OMIMPS:607602; ORPHA:281139","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011870","Disease_Description__c":"A rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.","GARD_Name__c":"Annular epidermolytic ichthyosis","GARD_Synonym__c":"aei; ichthyosis, annular epidermolytic","Curated_Disease_Description_Source__c":"MONDO:0011870","Curated_Disease_Description__c":"A rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:281139","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011870","ORPHANET_ID__c":"ORPHA:281139","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ictiosis epidermolítica anular","Spanish_Description_Source__c":"ORPHA:281139","Spanish_Description__c":"Es una variante clínica poco frecuente de la ictiosis epidermolítica (IE) caracterizada por la presencia de un fenotipo ampollar al nacimiento y por el desarrollo, desde la infancia temprana, de lesiones descamativas, eritematosas, policíclicas y anulares en tronco y extremidades.","Spanish_Disease_Name__c":"ictiosis epidermolítica anular","Spanish_GARD_Synonym__c":"aei","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 clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.","Curated_Disease_Description_Source__c":"MONDO:0011870","GARD_Synonym__c":"aei; ichthyosis, annular epidermolytic","Name":"Annular epidermolytic ichthyosis","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":"Ichthyosis","Tag_Category__c":"Account","curated_tag_name":"Ichthyosis"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:281139"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:281139"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/281139","Source__c":"C1843463; MONDO:0011870; ORPHA:281139","Xref__c":"ORPHA:281139"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718631006","Source__c":"C1843463; MONDO:0011870","Xref__c":"718631006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564367","Source__c":"MONDO:0011870","Xref__c":"C564367"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1843463","Source__c":"C1843463","Xref__c":"C1843463"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS607602","Source__c":"MONDO:0011870","Xref__c":"OMIMPS:607602"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=334410","Source__c":"C1843463","Xref__c":"MEDGEN:334410"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011870","Source__c":"GARD:0017304","Xref__c":"MONDO:0011870"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KRT1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/krt1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KRT10","GHR_URL__c":"https://medlineplus.gov/genetics/gene/krt10","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology","Ichthyosis"]},"synonyms":["aei"," ichthyosis, annular epidermolytic"]}