{"Name":"Epiblepharon","DiseaseID__c":"GARD:0019671","id":19671,"encodedName":"epiblepharon","IsDeleted":false,"Disease_Name_Full__c":"Epiblepharon","Xref_IDs__c":"253212001; C0344503; HP:0011225; MEDGEN:488856; MONDO:0020461; ORPHA:99169","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":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:99169","Disease_Description__c":"A rare eyelid malposition disorder characterized by a horizontal fold consisting of redundant skin and underlying pretarsal orbicularis muscle overriding the eyelid margin and causing inward rotation of the eyelashes with potential irritation of the ocular surface. Patients may be asymptomatic or experience foreign body sensation, constant watering, itching, and redness of the eyes. Complications include repeated infections and corneal erosion. The condition is usually bilateral and more commonly affects the lower eyelids.","GARD_Name__c":"Epiblepharon","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:99169","Curated_Disease_Description__c":"A rare eyelid malposition disorder characterized by a horizontal fold consisting of redundant skin and underlying pretarsal orbicularis muscle overriding the eyelid margin and causing inward rotation of the eyelashes with potential irritation of the ocular surface. Patients may be asymptomatic or experience foreign body sensation, constant watering, itching, and redness of the eyes. Complications include repeated infections and corneal erosion. The condition is usually bilateral and more commonly affects the lower eyelids.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:99169","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020461","ORPHANET_ID__c":"ORPHA:99169","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epiblefaron","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"epiblefaron","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":"A rare eyelid malposition disorder characterized by a horizontal fold consisting of redundant skin and underlying pretarsal orbicularis muscle overriding the eyelid margin and causing inward rotation of the eyelashes with potential irritation of the ocular surface. Patients may be asymptomatic or experience foreign body sensation, constant watering, itching, and redness of the eyes. Complications include repeated infections and corneal erosion. The condition is usually bilateral and more commonly affects the lower eyelids.","Curated_Disease_Description_Source__c":"ORPHA:99169","Name":"Epiblepharon","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://browser.ihtsdotools.org/?perspective=full&conceptId1=253212001","Source__c":"C0344503; MONDO:0020461","Xref__c":"253212001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=488856","Source__c":"C0344503","Xref__c":"MEDGEN:488856"},{"URL__c":"https://www.orpha.net/en/disease/detail/99169","Source__c":"C0344503; MONDO:0020461; ORPHA:99169","Xref__c":"ORPHA:99169"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0344503","Source__c":"C0344503","Xref__c":"C0344503"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020461","Source__c":"GARD:0019671","Xref__c":"MONDO:0020461"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0011225","Source__c":"C0344503","Xref__c":"HP:0011225"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology"]},"synonyms":[""]}