{"Name":"Grayson-Wilbrandt corneal dystrophy","DiseaseID__c":"GARD:0021167","id":21167,"encodedName":"grayson-wilbrandt-corneal-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Grayson-Wilbrandt corneal dystrophy","Xref_IDs__c":"717286002; C4305579; MEDGEN:931248; MONDO:0017391; ORPHA:293375","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0017391","Disease_Description__c":"Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity.","GARD_Name__c":"Grayson-Wilbrandt corneal dystrophy","GARD_Synonym__c":"grayson wilbrandt corneal dystrophy; grayson wilbrandt dystrophy of cornea; gwcd","Curated_Disease_Description_Source__c":"MONDO:0017391","Curated_Disease_Description__c":"Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:293375","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017391","ORPHANET_ID__c":"ORPHA:293375","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia corneal de grayson-wilbrandt","Spanish_Description_Source__c":"ORPHA:293375","Spanish_Description__c":"La distrofia corneal de Grayson-Wilbrandt es una forma muy rara de distrofia corneal, caracterizada por patrones variables de opacificación de la capa de Bowman de la córnea que se extienden anteriormente dentro del epitelio, con una agudeza visual entre normal y disminuida.","Spanish_Disease_Name__c":"distrofia corneal de grayson-wilbrandt","Spanish_GARD_Synonym__c":"gwcd","Category_Linearization__c":"ORPHA:97966","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":"Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity.","Curated_Disease_Description_Source__c":"MONDO:0017391","GARD_Synonym__c":"grayson wilbrandt corneal dystrophy; grayson wilbrandt dystrophy of cornea; gwcd","Name":"Grayson-Wilbrandt corneal dystrophy","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":"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":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:293375"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:293375"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:293375"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4305579","Source__c":"C4305579","Xref__c":"C4305579"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=931248","Source__c":"C4305579","Xref__c":"MEDGEN:931248"},{"URL__c":"https://www.orpha.net/en/disease/detail/293375","Source__c":"C4305579; MONDO:0017391; ORPHA:293375","Xref__c":"ORPHA:293375"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717286002","Source__c":"C4305579; MONDO:0017391","Xref__c":"717286002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017391","Source__c":"GARD:0021167","Xref__c":"MONDO:0017391"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["grayson wilbrandt corneal dystrophy"," grayson wilbrandt dystrophy of cornea"," gwcd"]}