{"Name":"Isolated congenital ectropion","DiseaseID__c":"GARD:0019673","id":19673,"encodedName":"isolated-congenital-ectropion","IsDeleted":false,"Disease_Name_Full__c":"Isolated congenital ectropion","Xref_IDs__c":"C5681630; MEDGEN:1842688; MONDO:0020463; ORPHA:99171","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":3,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0020463","Disease_Description__c":"A congenital ectropion that is not part of a larger syndrome.","GARD_Name__c":"Isolated congenital ectropion","GARD_Synonym__c":"nonsyndromic congenital ectropion","Curated_Disease_Description_Source__c":"ORPHA:99171","Curated_Disease_Description__c":"Isolated congenital ectropion is a rare ocular disease characterized by congenital, unilateral or bilateral, lower or upper eyelid malposition with eversion of the margin due to a vertical shortage of skin, leading to exposure of the conjunctiva and sometimes the cornea. Chronic epiphora and exposure keratitis may be observed in severe cases.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:99171","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020463","ORPHANET_ID__c":"ORPHA:99171","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ectropión congénito aislado","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"ectropión congénito aislado","Spanish_GARD_Synonym__c":null,"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":"Isolated congenital ectropion is a rare ocular disease characterized by congenital, unilateral or bilateral, lower or upper eyelid malposition with eversion of the margin due to a vertical shortage of skin, leading to exposure of the conjunctiva and sometimes the cornea. Chronic epiphora and exposure keratitis may be observed in severe cases.","Curated_Disease_Description_Source__c":"ORPHA:99171","GARD_Synonym__c":"nonsyndromic congenital ectropion","Name":"Isolated congenital ectropion","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"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1842688","Source__c":"C5681630","Xref__c":"MEDGEN:1842688"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5681630","Source__c":"C5681630","Xref__c":"C5681630"},{"URL__c":"https://www.orpha.net/en/disease/detail/99171","Source__c":"C5681630; MONDO:0020463; ORPHA:99171","Xref__c":"ORPHA:99171"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020463","Source__c":"GARD:0019673","Xref__c":"MONDO:0020463"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology"]},"synonyms":["nonsyndromic congenital ectropion"]}