{"Name":"Lower eyelid coloboma","DiseaseID__c":"GARD:0019978","id":19978,"encodedName":"lower-eyelid-coloboma","IsDeleted":false,"Disease_Name_Full__c":"Lower eyelid coloboma","Xref_IDs__c":"763133008; C1837826; HP:0000652; MEDGEN:373417; MONDO:0015481; ORPHA:155889","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:0015481","Disease_Description__c":"Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome.","GARD_Name__c":"Lower eyelid coloboma","GARD_Synonym__c":"cleft lower eyelid; coloboma of inferior eyelid; coloboma of lower eyelid; full thickness defect of the lower eyelid; inferior palpebral coloboma; lower lid coloboma; notched lower eyelid","Curated_Disease_Description_Source__c":"MONDO:0015481","Curated_Disease_Description__c":"Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting 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:155889","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015481","ORPHANET_ID__c":"ORPHA:155889","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Coloboma del párpado inferior","Spanish_Description_Source__c":"ORPHA:155889","Spanish_Description__c":"El coloboma del párpado inferior es un defecto poco frecuente del desarrollo durante la embriogénesis caracterizado por un defecto unilateral o bilateral, de espesor parcial o total y de tamaño variable del párpado inferior (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 lateral del párpado. Puede presentarse aislado, asociado con hendidura facial o formando parte de un síndrome.","Spanish_Disease_Name__c":"coloboma del párpado inferior","Spanish_GARD_Synonym__c":"coloboma palpebral inferior","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 inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome.","Curated_Disease_Description_Source__c":"MONDO:0015481","GARD_Synonym__c":"cleft lower eyelid; coloboma of inferior eyelid; coloboma of lower eyelid; full thickness defect of the lower eyelid; inferior palpebral coloboma; lower lid coloboma; notched lower eyelid","Name":"Lower 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://www.orpha.net/en/disease/detail/155889","Source__c":"C1837826; MONDO:0015481; ORPHA:155889","Xref__c":"ORPHA:155889"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763133008","Source__c":"C1837826; MONDO:0015481","Xref__c":"763133008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=373417","Source__c":"C1837826","Xref__c":"MEDGEN:373417"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1837826","Source__c":"C1837826","Xref__c":"C1837826"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0000652","Source__c":"C1837826","Xref__c":"HP:0000652"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015481","Source__c":"GARD:0019978","Xref__c":"MONDO:0015481"}],"tags":{"Disease Category":["Congenital Abnormality"],"Specialist":["Otolaryngology"],"Account":["Craniofacial Anomalies"]},"synonyms":["cleft lower eyelid"," coloboma of inferior eyelid"," coloboma of lower eyelid"," full thickness defect of the lower eyelid"," inferior palpebral coloboma"," lower lid coloboma"," notched lower eyelid"]}