{"Name":"Congenital hereditary endothelial dystrophy type I","DiseaseID__c":"GARD:0019610","id":19610,"encodedName":"congenital-hereditary-endothelial-dystrophy-type-i","IsDeleted":false,"Disease_Name_Full__c":"Congenital hereditary endothelial dystrophy type I","Xref_IDs__c":"416633008; C1562945; MEDGEN:736888; MONDO:0020365","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":1,"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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0020365","Disease_Description__c":"Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision.","GARD_Name__c":"Congenital hereditary endothelial dystrophy type I","GARD_Synonym__c":"autosomal dominant ched; autosomal dominant congenital hereditary endothelial dystrophy; ched1; chedi; congenital hereditary endothelial dystrophy type 1","Curated_Disease_Description_Source__c":"ORPHA:98975","Curated_Disease_Description__c":"A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:98975","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020365","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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 subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision.","Curated_Disease_Description_Source__c":"ORPHA:98975","GARD_Synonym__c":"autosomal dominant ched; autosomal dominant congenital hereditary endothelial dystrophy; ched1; chedi; congenital hereditary endothelial dystrophy type 1","Name":"Congenital hereditary endothelial dystrophy type I","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Corneal Dystrophy Foundation","Website__c":"https://www.cornealdystrophyfoundation.org/home"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=736888","Source__c":"C1562945","Xref__c":"MEDGEN:736888"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=416633008","Source__c":"MONDO:0020365","Xref__c":"416633008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1562945","Source__c":"C1562945","Xref__c":"C1562945"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020365","Source__c":"GARD:0019610","Xref__c":"MONDO:0020365"}],"tags":{"Specialist":["Anterior segment of Eye"]},"synonyms":["autosomal dominant ched"," autosomal dominant congenital hereditary endothelial dystrophy"," ched1"," chedi"," congenital hereditary endothelial dystrophy type 1"]}