{"Name":"Sclerocornea","DiseaseID__c":"GARD:0016800","id":16800,"encodedName":"sclerocornea","IsDeleted":false,"Disease_Name_Full__c":"Sclerocornea","Xref_IDs__c":"C1853235; C565209; DOID:0060252; HP:0000647; MEDGEN:344000; MONDO:0019629; ORPHA:91490","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0019629","Disease_Description__c":"A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea.","GARD_Name__c":"Sclerocornea","GARD_Synonym__c":"hardening of skin and connective tissue; isolated congenital sclerocornea; sclerocornea (disease)","Curated_Disease_Description_Source__c":"ORPHA:91490","Curated_Disease_Description__c":"A rare corneal disorder characterized by non-inflammatory, non-progressive, bilateral ingrowth of vascularized, opaque scleral tissue into the peripheral cornea, obliterating the corneoscleral limbus and scleral sulcus. The condition is not associated with other ocular abnormalities.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:91490","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019629","ORPHANET_ID__c":"ORPHA:91490","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Esclerocórnea aislada congénita","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"esclerocórnea aislada congénita","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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 corneal disorder characterized by non-inflammatory, non-progressive, bilateral ingrowth of vascularized, opaque scleral tissue into the peripheral cornea, obliterating the corneoscleral limbus and scleral sulcus. The condition is not associated with other ocular abnormalities.","Curated_Disease_Description_Source__c":"ORPHA:91490","GARD_Synonym__c":"hardening of skin and connective tissue; isolated congenital sclerocornea; sclerocornea (disease)","Name":"Sclerocornea","estimateUsa":""}],"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":"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":"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/mesh/C565209","Source__c":"MONDO:0019629","Xref__c":"C565209"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060252","Source__c":"MONDO:0019629","Xref__c":"DOID:0060252"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=344000","Source__c":"C1853235","Xref__c":"MEDGEN:344000"},{"URL__c":"https://www.orpha.net/en/disease/detail/91490","Source__c":"C1853235; MONDO:0019629","Xref__c":"ORPHA:91490"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1853235","Source__c":"C1853235","Xref__c":"C1853235"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0000647","Source__c":"C1853235","Xref__c":"HP:0000647"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019629","Source__c":"GARD:0016800","Xref__c":"MONDO:0019629"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GJA8","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye"]},"synonyms":["hardening of skin and connective tissue"," isolated congenital sclerocornea"," sclerocornea (disease)"]}