{"Name":"Subepithelial mucinous corneal dystrophy","DiseaseID__c":"GARD:0016878","id":16878,"encodedName":"subepithelial-mucinous-corneal-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Subepithelial mucinous corneal dystrophy","Xref_IDs__c":"723582004; C2748503; C567547; DOID:0060454; MEDGEN:411595; MONDO:0013026; OMIM:612867; ORPHA:98959","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":1,"Description_Source__c":"MONDO:0013026","Disease_Description__c":"Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision.","GARD_Name__c":"Subepithelial mucinous corneal dystrophy","GARD_Synonym__c":"smcd","Curated_Disease_Description_Source__c":"MONDO:0013026","Curated_Disease_Description__c":"Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:98959","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013026","ORPHANET_ID__c":"ORPHA:98959","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia corneal mucinosa subepitelial","Spanish_Description_Source__c":"ORPHA:98959","Spanish_Description__c":"La distrofia corneal mucinosa subepitelial (SMCD) es una forma muy rara de distrofia corneal subepitelial caracterizada por frecuentes erosiones corneales recurrentes en la primera década de vida, con pérdida de visión progresiva.","Spanish_Disease_Name__c":"distrofia corneal mucinosa subepitelial","Spanish_GARD_Synonym__c":"smcd","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":"Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision.","Curated_Disease_Description_Source__c":"MONDO:0013026","GARD_Synonym__c":"smcd","Name":"Subepithelial mucinous 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:98959"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567547","Source__c":"MONDO:0013026","Xref__c":"C567547"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723582004","Source__c":"C2748503; MONDO:0013026","Xref__c":"723582004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=411595","Source__c":"C2748503","Xref__c":"MEDGEN:411595"},{"URL__c":"https://www.omim.org/entry/612867","Source__c":"C2748503; MONDO:0013026; ORPHA:98959","Xref__c":"OMIM:612867"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060454","Source__c":"MONDO:0013026","Xref__c":"DOID:0060454"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2748503","Source__c":"C2748503","Xref__c":"C2748503"},{"URL__c":"https://www.orpha.net/en/disease/detail/98959","Source__c":"C2748503; MONDO:0013026; ORPHA:98959","Xref__c":"ORPHA:98959"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013026","Source__c":"GARD:0016878","Xref__c":"MONDO:0013026"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["smcd"]}