{"Name":"Congenital eyelid retraction","DiseaseID__c":"GARD:0019675","id":19675,"encodedName":"congenital-eyelid-retraction","IsDeleted":false,"Disease_Name_Full__c":"Congenital eyelid retraction","Xref_IDs__c":"715769008; C4274470; MEDGEN:894858; MONDO:0020465; ORPHA:99176","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":1,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0020465","Disease_Description__c":"Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips.","GARD_Name__c":"Congenital eyelid retraction","GARD_Synonym__c":"congenital abnormal retraction of eyelid","Curated_Disease_Description_Source__c":"MONDO:0020465","Curated_Disease_Description__c":"Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:99176","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020465","ORPHANET_ID__c":"ORPHA:99176","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Retracción palpebral congénita","Spanish_Description_Source__c":"ORPHA:99176","Spanish_Description__c":"La retracción palpebral congénita es una anomalía cinética muy rara de los párpados presente al nacer. Afecta al párpado superior o al inferior provocando, en algunos casos, la exposición de la córnea y puede estar asociada al deslizamiento del músculo elevador.","Spanish_Disease_Name__c":"retracción palpebral congénita","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":"Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips.","Curated_Disease_Description_Source__c":"MONDO:0020465","GARD_Synonym__c":"congenital abnormal retraction of eyelid","Name":"Congenital eyelid retraction","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=715769008","Source__c":"C4274470; MONDO:0020465","Xref__c":"715769008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=894858","Source__c":"C4274470","Xref__c":"MEDGEN:894858"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4274470","Source__c":"C4274470","Xref__c":"C4274470"},{"URL__c":"https://www.orpha.net/en/disease/detail/99176","Source__c":"C4274470; MONDO:0020465; ORPHA:99176","Xref__c":"ORPHA:99176"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020465","Source__c":"GARD:0019675","Xref__c":"MONDO:0020465"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology"]},"synonyms":["congenital abnormal retraction of eyelid"]}