{"Name":"Cataract 18","DiseaseID__c":"GARD:0009892","id":9892,"encodedName":"cataract-18","IsDeleted":false,"Disease_Name_Full__c":"Cataract 18","Xref_IDs__c":"C1864908; C535337; DOID:0110238; MEDGEN:351249; MONDO:0012395; OMIM:610019","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":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0012395","Disease_Description__c":"Any cataract in which the cause of the disease is a mutation in the FYCO1 gene.","GARD_Name__c":"Cataract 18","GARD_Synonym__c":"autosomal recessive congenital cataract 2; cataract (disease) caused by mutation in fyco1; cataract 18 autosomal recessive; cataract 18, autosomal recessive; cataract type 18; catc2; ctrct18; fyco1 cataract (disease)","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Cataract 18 is a condition where the lens of the eye becomes cloudy. This can happen from birth or shortly after. Researchers have found that changes in a gene called FYCO1 can cause this type of cataract. It ifollows an autosomal recessive pattern of inheritance. The condition used to be called cataract, autosomal recessive congenital 2.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:610019","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012395","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Cataract 18 is a condition where the lens of the eye becomes cloudy. This can happen from birth or shortly after. Researchers have found that changes in a gene called FYCO1 can cause this type of cataract. It ifollows an autosomal recessive pattern of inheritance. The condition used to be called cataract, autosomal recessive congenital 2.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"autosomal recessive congenital cataract 2; cataract (disease) caused by mutation in fyco1; cataract 18 autosomal recessive; cataract 18, autosomal recessive; cataract type 18; catc2; ctrct18; fyco1 cataract (disease)","Name":"Cataract 18","estimateUsa":""}],"GARD_Disease_Tag__c":[{"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/0009892","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=351249","Source__c":"C1864908","Xref__c":"MEDGEN:351249"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535337","Source__c":"MONDO:0012395","Xref__c":"C535337"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110238","Source__c":"MONDO:0012395","Xref__c":"DOID:0110238"},{"URL__c":"https://www.omim.org/entry/610019","Source__c":"C1864908; MONDO:0012395","Xref__c":"OMIM:610019"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1864908","Source__c":"C1864908","Xref__c":"C1864908"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012395","Source__c":"GARD:0009892","Xref__c":"MONDO:0012395"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FYCO1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:610019","Feature__r":{"HPO_Description__c":"A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100018","HPO_Synonym__c":"Yellowish cloudy center of lens","HPO_Name__c":"Nuclear cataract","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Anterior segment of Eye"]},"synonyms":["autosomal recessive congenital cataract 2"," cataract (disease) caused by mutation in fyco1"," cataract 18 autosomal recessive"," cataract 18, autosomal recessive"," cataract type 18"," catc2"," ctrct18"," fyco1 cataract (disease)"]}