{"Name":"Cataract 31 multiple types","DiseaseID__c":"GARD:0010227","id":10227,"encodedName":"cataract-31-multiple-types","IsDeleted":false,"Disease_Name_Full__c":"Cataract 31 multiple types","Xref_IDs__c":"C1854311; C535343; DOID:0110265; MEDGEN:343089; MONDO:0011547; OMIM:605387","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":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0011547","Disease_Description__c":"Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CHMP4B gene.","GARD_Name__c":"Cataract 31 multiple types","GARD_Synonym__c":"cataract 31, posterior polar; chmp4b early-onset non-syndromic cataract; ctrct31; early-onset non-syndromic cataract caused by mutation in chmp4b","Curated_Disease_Description_Source__c":"MONDO:0011547","Curated_Disease_Description__c":"Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CHMP4B gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011547","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":"Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CHMP4B gene.","Curated_Disease_Description_Source__c":"MONDO:0011547","GARD_Synonym__c":"cataract 31, posterior polar; chmp4b early-onset non-syndromic cataract; ctrct31; early-onset non-syndromic cataract caused by mutation in chmp4b","Name":"Cataract 31 multiple types","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://www.omim.org/entry/605387","Source__c":"C1854311; MONDO:0011547","Xref__c":"OMIM:605387"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=343089","Source__c":"C1854311","Xref__c":"MEDGEN:343089"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110265","Source__c":"MONDO:0011547","Xref__c":"DOID:0110265"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535343","Source__c":"MONDO:0011547","Xref__c":"C535343"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1854311","Source__c":"C1854311","Xref__c":"C1854311"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011547","Source__c":"GARD:0010227","Xref__c":"MONDO:0011547"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CHMP4B","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:605387","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"}},{"Provided_By__c":"OMIM:605387","Feature__r":{"HPO_Description__c":"A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007787","HPO_Synonym__c":"Posterior subcapsular opacities of the lens","HPO_Name__c":"Posterior subcapsular cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605387","Feature__r":{"HPO_Description__c":"A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010923","HPO_Name__c":"Anterior subcapsular cataract","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Anterior segment of Eye"]},"synonyms":["cataract 31, posterior polar"," chmp4b early-onset non-syndromic cataract"," ctrct31"," early-onset non-syndromic cataract caused by mutation in chmp4b"]}