{"Name":"Cataract 46 juvenile-onset","DiseaseID__c":"GARD:0001150","id":1150,"encodedName":"cataract-46-juvenile-onset","IsDeleted":false,"Disease_Name_Full__c":"Cataract 46 juvenile-onset","Xref_IDs__c":"C0220721; C538286; DOID:0110243; MEDGEN:113102; MONDO:0008925; OMIM:212500","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:0008925","Disease_Description__c":"Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene.","GARD_Name__c":"Cataract 46 juvenile-onset","GARD_Synonym__c":"cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy; cataracts, autosomal recessive; ctrct46; early-onset non-syndromic cataract caused by mutation in lemd2; juvenilae cataract hutterite type; lemd2 early-onset non-syndromic cataract","Curated_Disease_Description_Source__c":"MONDO:0008925","Curated_Disease_Description__c":"Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 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:0008925","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 LEMD2 gene.","Curated_Disease_Description_Source__c":"MONDO:0008925","GARD_Synonym__c":"cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy; cataracts, autosomal recessive; ctrct46; early-onset non-syndromic cataract caused by mutation in lemd2; juvenilae cataract hutterite type; lemd2 early-onset non-syndromic cataract","Name":"Cataract 46 juvenile-onset","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/212500","Source__c":"C0220721; MONDO:0008925","Xref__c":"OMIM:212500"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0220721","Source__c":"C0220721","Xref__c":"C0220721"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110243","Source__c":"MONDO:0008925","Xref__c":"DOID:0110243"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538286","Source__c":"MONDO:0008925","Xref__c":"C538286"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=113102","Source__c":"C0220721","Xref__c":"MEDGEN:113102"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008925","Source__c":"GARD:0001150","Xref__c":"MONDO:0008925"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LEMD2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:212500","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001645","HPO_Synonym__c":"Premature sudden cardiac death; Sudden cardiac death","HPO_Name__c":"Sudden cardiac death","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:212500","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of cataract that is not apparent at birth but that arises in childhood or adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001118","HPO_Name__c":"Juvenile cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:212500","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011675","HPO_Synonym__c":"Abnormal heart rate; Arrhythmias; Cardiac arrhythmia; Cardiac arrhythmias; Cardiac rhythm disturbances; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat","HPO_Name__c":"Arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Anterior segment of Eye"]},"synonyms":["cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy"," cataracts, autosomal recessive"," ctrct46"," early-onset non-syndromic cataract caused by mutation in lemd2"," juvenilae cataract hutterite type"," lemd2 early-onset non-syndromic cataract"]}