{"Name":"Autosomal recessive congenital ichthyosis","DiseaseID__c":"GARD:0021106","id":21106,"encodedName":"autosomal-recessive-congenital-ichthyosis","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive congenital ichthyosis","Xref_IDs__c":"C1274215; DOID:0060655; MEDGEN:697564; MONDO:0017265; NBK1420; OMIMPS:242300; ORPHA:281097","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017265","Disease_Description__c":"Autosomal recessive form of inherited ichthyosis.","GARD_Name__c":"Autosomal recessive congenital ichthyosis","GARD_Synonym__c":"arci; autosomal recessive ichthyosis; autosomal recessive inherited ichthyosis; ichthyosis, congenital, autosomal recessive; inherited ichthyosis, autosomal recessive","Curated_Disease_Description_Source__c":"MONDO:0017265","Curated_Disease_Description__c":"Autosomal recessive congenital ichthyoses (ARCI) are lifelong skin disorders with generalized scaling and variable erythema that typically manifest at birth or early infancy. ARCI encompass several forms of nonsyndromic ichthyosis, which vary significantly in clinical presentation and severity, including the most severe and sometimes fatal form, harlequin ichthyosis; lamellar ichthyosis (LI); (nonbullous) congenital ichthyosiform erythroderma (CIE); and intermediate phenotypes with variable degrees of erythema and size and quality of scale. While these phenotypes fall on a continuum, the phenotypic descriptions are clinically useful for clarifying prognosis and management for affected individuals.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:281097","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017265","ORPHANET_ID__c":"ORPHA:281097","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ictiosis congénita autosómica recesiva","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"ictiosis congénita autosómica recesiva","Spanish_GARD_Synonym__c":"icar","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":"Autosomal recessive congenital ichthyoses (ARCI) are lifelong skin disorders with generalized scaling and variable erythema that typically manifest at birth or early infancy. ARCI encompass several forms of nonsyndromic ichthyosis, which vary significantly in clinical presentation and severity, including the most severe and sometimes fatal form, harlequin ichthyosis; lamellar ichthyosis (LI); (nonbullous) congenital ichthyosiform erythroderma (CIE); and intermediate phenotypes with variable degrees of erythema and size and quality of scale. While these phenotypes fall on a continuum, the phenotypic descriptions are clinically useful for clarifying prognosis and management for affected individuals.","Curated_Disease_Description_Source__c":"MONDO:0017265","GARD_Synonym__c":"arci; autosomal recessive ichthyosis; autosomal recessive inherited ichthyosis; ichthyosis, congenital, autosomal recessive; inherited ichthyosis, autosomal recessive","Name":"Autosomal recessive congenital ichthyosis","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"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:281097"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:281097"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1274215","Source__c":"C1274215","Xref__c":"C1274215"},{"URL__c":"https://www.orpha.net/en/disease/detail/281097","Source__c":"C1274215; MONDO:0017265; ORPHA:281097","Xref__c":"ORPHA:281097"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=697564","Source__c":"C1274215","Xref__c":"MEDGEN:697564"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060655","Source__c":"MONDO:0017265","Xref__c":"DOID:0060655"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS242300","Source__c":"MONDO:0017265","Xref__c":"OMIMPS:242300"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=402772005","Source__c":"C1274215","Xref__c":"402772005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017265","Source__c":"GARD:0021106","Xref__c":"MONDO:0017265"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1420","Source__c":"Gene Review","Xref__c":"NBK1420"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Dermatology","Pediatrics"],"Account":["Dermatology","Ichthyosis"]},"synonyms":["arci"," autosomal recessive ichthyosis"," autosomal recessive inherited ichthyosis"," ichthyosis, congenital, autosomal recessive"," inherited ichthyosis, autosomal recessive"]}