{"Name":"Early-onset anterior polar cataract","DiseaseID__c":"GARD:0001140","id":1140,"encodedName":"early-onset-anterior-polar-cataract","IsDeleted":false,"Disease_Name_Full__c":"Early-onset anterior polar cataract","Xref_IDs__c":"C1855179; MEDGEN:340806; MONDO:0020373; ORPHA:98988","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"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":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:98988","Disease_Description__c":null,"GARD_Name__c":"Early-onset anterior polar cataract","GARD_Synonym__c":"anterior polar cataract; early-onset anterior subcapsular cataract; polar cataract, anterior","Curated_Disease_Description_Source__c":"OMIM:601202","Curated_Disease_Description__c":"Early-onset anterior polar cataracts are small oppacities on the anterior surface of the lens. They usually do not interfere with vision.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:98988","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0020373","ORPHANET_ID__c":"ORPHA:98988","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Catarata polar anterior de inicio precoz","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"catarata polar anterior de inicio precoz","Spanish_GARD_Synonym__c":"catarata subcapsular anterior de inicio precoz","Category_Linearization__c":"ORPHA:97966","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":"Early-onset anterior polar cataracts are small oppacities on the anterior surface of the lens. They usually do not interfere with vision.","Curated_Disease_Description_Source__c":"OMIM:601202","GARD_Synonym__c":"anterior polar cataract; early-onset anterior subcapsular cataract; polar cataract, anterior","Name":"Early-onset anterior polar cataract","estimateUsa":""}],"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:98988"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:98988"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001140","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/98988","Source__c":"C1855179; MONDO:0020373; ORPHA:98988","Xref__c":"ORPHA:98988"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=340806","Source__c":"C1855179","Xref__c":"MEDGEN:340806"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1855179","Source__c":"C1855179","Xref__c":"C1855179"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001134","Source__c":"C1855179","Xref__c":"HP:0001134"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020373","Source__c":"GARD:0001140","Xref__c":"MONDO:0020373"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CRYAA","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CRYBA2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CRYGB","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CRYBB3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["anterior polar cataract"," early-onset anterior subcapsular cataract"," polar cataract, anterior"]}