{"Name":"Upper eyelid coloboma","DiseaseID__c":"GARD:0019977","id":19977,"encodedName":"upper-eyelid-coloboma","IsDeleted":false,"Disease_Name_Full__c":"Upper eyelid coloboma","Xref_IDs__c":"763132003; C1863872; HP:0000636; MEDGEN:350283; MONDO:0015480; ORPHA:155884","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0015480","Disease_Description__c":"Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome.","GARD_Name__c":"Upper eyelid coloboma","GARD_Synonym__c":"cleft upper eyelid; coloboma of superior eyelid; coloboma of the upper eyelid; coloboma of upper eyelid; full thickness defect of the upper eyelid; notched upper eyelid; superior palpebral coloboma; upper eyelid colobomas","Curated_Disease_Description_Source__c":"MONDO:0015480","Curated_Disease_Description__c":"Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:155884","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015480","ORPHANET_ID__c":"ORPHA:155884","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Coloboma del párpado superior","Spanish_Description_Source__c":"ORPHA:155884","Spanish_Description__c":"El coloboma del párpado superior es un defecto poco frecuente del desarrollo durante la embriogénesis caracterizado por un defecto típicamente unilateral de tamaño variable del párpado superior, de espesor parcial o total, variando desde una pequeña hendidura a la ausencia completa del párpado, que por lo general es de forma triangular (con base en el margen del párpado) y localizado en el tercio medio del párpado. Puede presentarse aislado, asociado a otras anomalías (p.ej. ocular/orbital y facial) o formando parte de un síndrome.","Spanish_Disease_Name__c":"coloboma del párpado superior","Spanish_GARD_Synonym__c":"coloboma palpebral superior","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":"Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome.","Curated_Disease_Description_Source__c":"MONDO:0015480","GARD_Synonym__c":"cleft upper eyelid; coloboma of superior eyelid; coloboma of the upper eyelid; coloboma of upper eyelid; full thickness defect of the upper eyelid; notched upper eyelid; superior palpebral coloboma; upper eyelid colobomas","Name":"Upper 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":"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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763132003","Source__c":"C1863872; MONDO:0015480","Xref__c":"763132003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=350283","Source__c":"C1863872","Xref__c":"MEDGEN:350283"},{"URL__c":"https://www.orpha.net/en/disease/detail/155884","Source__c":"C1863872; MONDO:0015480; ORPHA:155884","Xref__c":"ORPHA:155884"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1863872","Source__c":"C1863872","Xref__c":"C1863872"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0000636","Source__c":"C1863872","Xref__c":"HP:0000636"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015480","Source__c":"GARD:0019977","Xref__c":"MONDO:0015480"}],"tags":{"Disease Category":["Congenital Abnormality"],"Specialist":["Otolaryngology"],"Account":["Craniofacial Anomalies"]},"synonyms":["cleft upper eyelid"," coloboma of superior eyelid"," coloboma of the upper eyelid"," coloboma of upper eyelid"," full thickness defect of the upper eyelid"," notched upper eyelid"," superior palpebral coloboma"," upper eyelid colobomas"]}