{"Name":"Early-onset zonular cataract","DiseaseID__c":"GARD:0001898","id":1898,"encodedName":"early-onset-zonular-cataract","IsDeleted":false,"Disease_Name_Full__c":"Early-onset zonular cataract","Xref_IDs__c":"C5681642; MEDGEN:1842642; MONDO:0020379; ORPHA:98995","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":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:98995","Disease_Description__c":null,"GARD_Name__c":"Early-onset zonular cataract","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:91492","Curated_Disease_Description__c":"Early-onset zonular cataract is a type of early-onset non-syndromic cataract. This condition is a rare, genetic, developmental defect of the eye disorder, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.","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:98995","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0020379","ORPHANET_ID__c":"ORPHA:98995","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Catarata zonular de inicio precoz","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"catarata zonular de inicio precoz","Spanish_GARD_Synonym__c":null,"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 zonular cataract is a type of early-onset non-syndromic cataract. This condition is a rare, genetic, developmental defect of the eye disorder, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.","Curated_Disease_Description_Source__c":"ORPHA:91492","Name":"Early-onset zonular 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":"Infancy","Provided_By__c":"ORPHA:98995"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:98995"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/98995","Source__c":"C5681642; MONDO:0020379; ORPHA:98995","Xref__c":"ORPHA:98995"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5681642","Source__c":"C5681642","Xref__c":"C5681642"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1842642","Source__c":"C5681642","Xref__c":"MEDGEN:1842642"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020379","Source__c":"GARD:0001898","Xref__c":"MONDO:0020379"}],"Inheritance__c":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":[""]}