{"Name":"Iris coloboma","DiseaseID__c":"GARD:0001434","id":1434,"encodedName":"iris-coloboma","IsDeleted":false,"Disease_Name_Full__c":"Iris coloboma","Xref_IDs__c":"9446007; C0240063; C98879; HP:0000612; MEDGEN:116097; MONDO:0020356; ORPHA:98944; Q13.0","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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0020356","Disease_Description__c":"A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris.","GARD_Name__c":"Iris coloboma","GARD_Synonym__c":"cat eye; coloboma of iris; coloboma of iris (disease); coloboma of the iris; keyhole iris","Curated_Disease_Description_Source__c":"MONDO:0020356","Curated_Disease_Description__c":"A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:98944","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020356","ORPHANET_ID__c":"ORPHA:98944","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Coloboma de iris","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"coloboma de iris","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 congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris.","Curated_Disease_Description_Source__c":"MONDO:0020356","GARD_Synonym__c":"cat eye; coloboma of iris; coloboma of iris (disease); coloboma of the iris; keyhole iris","Name":"Iris 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/0001434","Source__c":"RareSource"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98879","Source__c":"C0240063; MONDO:0020356","Xref__c":"C98879"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=116097","Source__c":"C0240063","Xref__c":"MEDGEN:116097"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=9446007","Source__c":"MONDO:0020356","Xref__c":"9446007"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0240063","Source__c":"C0240063","Xref__c":"C0240063"},{"URL__c":"https://www.orpha.net/en/disease/detail/98944","Source__c":"C0240063; MONDO:0020356","Xref__c":"ORPHA:98944"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0000612","Source__c":"C0240063","Xref__c":"HP:0000612"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020356","Source__c":"GARD:0001434","Xref__c":"MONDO:0020356"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q13.0","Source__c":"MONDO:0020356","Xref__c":"Q13.0"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ACTG1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/actg1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"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","Anterior segment of Eye"]},"synonyms":["cat eye"," coloboma of iris"," coloboma of iris (disease)"," coloboma of the iris"," keyhole iris"]}