{"Name":"Euryblepharon","DiseaseID__c":"GARD:0019674","id":19674,"encodedName":"euryblepharon","IsDeleted":false,"Disease_Name_Full__c":"Euryblepharon","Xref_IDs__c":"400954002; C1303001; HP:0012905; MEDGEN:724511; MONDO:0020464; ORPHA:99172","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":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0020464","Disease_Description__c":"Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus; see this term) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome, see this term). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment.","GARD_Name__c":"Euryblepharon","GARD_Synonym__c":"kabuki syndrome eyelids","Curated_Disease_Description_Source__c":"ORPHA:99172","Curated_Disease_Description__c":"Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:99172","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020464","ORPHANET_ID__c":"ORPHA:99172","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Euriblefaron","Spanish_Description_Source__c":"ORPHA:99172","Spanish_Description__c":"Es una anomalía congénita del párpado muy poco frecuente de etiología desconocida. Se caracteriza por un alargamiento horizontal bilateral de la fisura palpebral con un acortamiento vertical del párpado, malposición del canto lateral y ectropión lateral. Puede presentarse aislada o asociada a anomalías oculares (p. ej. estrabismo o telecanto) o sistémicas (p. ej. síndrome blefaro-queilo-odóntico). En casos graves, puede dar lugar a lagoftalmos y queratopatía por exposición, siendo necesaria una intervención quirúrgica.","Spanish_Disease_Name__c":"euriblefaron","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":"Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment.","Curated_Disease_Description_Source__c":"ORPHA:99172","GARD_Synonym__c":"kabuki syndrome eyelids","Name":"Euryblepharon","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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:99172"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1303001","Source__c":"C1303001","Xref__c":"C1303001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=724511","Source__c":"C1303001","Xref__c":"MEDGEN:724511"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=400954002","Source__c":"C1303001; MONDO:0020464","Xref__c":"400954002"},{"URL__c":"https://www.orpha.net/en/disease/detail/99172","Source__c":"C1303001; MONDO:0020464; ORPHA:99172","Xref__c":"ORPHA:99172"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0012905","Source__c":"C1303001","Xref__c":"HP:0012905"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020464","Source__c":"GARD:0019674","Xref__c":"MONDO:0020464"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Pediatrics"]},"synonyms":["kabuki syndrome eyelids"]}