{"Name":"Lens coloboma","DiseaseID__c":"GARD:0001433","id":1433,"encodedName":"lens-coloboma","IsDeleted":false,"Disease_Name_Full__c":"Lens coloboma","Xref_IDs__c":"C0344516; HP:0100719; MEDGEN:451043; MONDO:0020355; ORPHA:98943","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":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:98943","Disease_Description__c":"A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral abnormal lens shape (contraction of the lens with a notch) due to segmentally defective, or absent, development of the zonule and flattening of the equator in the region of the zonular defect, typically manifesting with reduced visual acuity. Other ocular anomalies, such as iris, choroid or optic disc colobomas, as well as cataracts and retinal detachment, may be associated.","GARD_Name__c":"Lens coloboma","GARD_Synonym__c":"coloboma of eye lens; coloboma of lens","Curated_Disease_Description_Source__c":"ORPHA:98943","Curated_Disease_Description__c":"A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral abnormal lens shape (contraction of the lens with a notch) due to segmentally defective, or absent, development of the zonule and flattening of the equator in the region of the zonular defect, typically manifesting with reduced visual acuity. Other ocular anomalies, such as iris, choroid or optic disc colobomas, as well as cataracts and retinal detachment, may be associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:98943","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020355","ORPHANET_ID__c":"ORPHA:98943","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Coloboma de cristalino","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"coloboma de cristalino","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 abnormal lens shape (contraction of the lens with a notch) due to segmentally defective, or absent, development of the zonule and flattening of the equator in the region of the zonular defect, typically manifesting with reduced visual acuity. Other ocular anomalies, such as iris, choroid or optic disc colobomas, as well as cataracts and retinal detachment, may be associated.","Curated_Disease_Description_Source__c":"ORPHA:98943","GARD_Synonym__c":"coloboma of eye lens; coloboma of lens","Name":"Lens coloboma","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Royal National Institute of Blind People","Website__c":"https://www.rnib.org.uk/"}],"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":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001433","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0344516","Source__c":"C0344516","Xref__c":"C0344516"},{"URL__c":"https://www.orpha.net/en/disease/detail/98943","Source__c":"C0344516; MONDO:0020355; ORPHA:98943","Xref__c":"ORPHA:98943"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=451043","Source__c":"C0344516","Xref__c":"MEDGEN:451043"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0100719","Source__c":"C0344516","Xref__c":"HP:0100719"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020355","Source__c":"GARD:0001433","Xref__c":"MONDO:0020355"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=204134008","Source__c":"C0344516","Xref__c":"204134008"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PAX6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pax6","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":"FZD5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye"]},"synonyms":["coloboma of eye lens"," coloboma of lens"]}