{"Name":"Eyelid coloboma","DiseaseID__c":"GARD:0019605","id":19605,"encodedName":"eyelid-coloboma","IsDeleted":false,"Disease_Name_Full__c":"Eyelid coloboma","Xref_IDs__c":"95202004; C0521573; C98878; HP:0000625; MEDGEN:141737; MONDO:0020357; ORPHA:98946","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":4,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0020357","Disease_Description__c":"A congenital abnormality in which a part of the upper or lower eyelid tissue is missing.","GARD_Name__c":"Eyelid coloboma","GARD_Synonym__c":"cleft eyelid; coloboma of eyelid; coloboma of lid; coloboma of the eyelid; coloboma palpebrale; congenital notching of palpebral fissure; full thickness defect of the eyelid; notched eyelid; palpebral coloboma","Curated_Disease_Description_Source__c":"ORPHA:98946","Curated_Disease_Description__c":"A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral, symmetrical or asymmetrical, partial or full thickness defect of the superior or inferior eyelid margin, ranging in size from a small notch to complete absence of the entire lid, typically located on the medial to lateral third of the eyelid, resulting in an unprotected cornea and thus possibly leading to exposure keratopathy and vision impairment. It may occur isolated, be associated with other ocular defects or be part of a craniofacial syndrome, such as Treacher-Collins or Goldenhar syndrome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:98946","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0020357","ORPHANET_ID__c":"ORPHA:98946","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Coloboma de párpado","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"coloboma de párpado","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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, genetic, developmental defect of the eye characterized by a uni- or bilateral, symmetrical or asymmetrical, partial or full thickness defect of the superior or inferior eyelid margin, ranging in size from a small notch to complete absence of the entire lid, typically located on the medial to lateral third of the eyelid, resulting in an unprotected cornea and thus possibly leading to exposure keratopathy and vision impairment. It may occur isolated, be associated with other ocular defects or be part of a craniofacial syndrome, such as Treacher-Collins or Goldenhar syndrome.","Curated_Disease_Description_Source__c":"ORPHA:98946","GARD_Synonym__c":"cleft eyelid; coloboma of eyelid; coloboma of lid; coloboma of the eyelid; coloboma palpebrale; congenital notching of palpebral fissure; full thickness defect of the eyelid; notched eyelid; palpebral coloboma","Name":"Eyelid coloboma","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Prevent Blindness America","Website__c":"https://preventblindness.org/"}],"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://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98878","Source__c":"C0521573; MONDO:0020357","Xref__c":"C98878"},{"URL__c":"https://www.orpha.net/en/disease/detail/98946","Source__c":"C0521573; MONDO:0020357; ORPHA:98946","Xref__c":"ORPHA:98946"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=95202004","Source__c":"C0521573; MONDO:0020357","Xref__c":"95202004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0521573","Source__c":"C0521573","Xref__c":"C0521573"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=141737","Source__c":"C0521573","Xref__c":"MEDGEN:141737"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0000625","Source__c":"C0521573","Xref__c":"HP:0000625"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020357","Source__c":"GARD:0019605","Xref__c":"MONDO:0020357"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FZD5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SALL2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ABCB6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PAX6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pax6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology"]},"synonyms":["cleft eyelid"," coloboma of eyelid"," coloboma of lid"," coloboma of the eyelid"," coloboma palpebrale"," congenital notching of palpebral fissure"," full thickness defect of the eyelid"," notched eyelid"," palpebral coloboma"]}