{"Name":"Seizures, benign familial neonatal, 1","DiseaseID__c":"GARD:0009765","id":9765,"encodedName":"seizures-benign-familial-neonatal-1","IsDeleted":false,"Disease_Name_Full__c":"Seizures, benign familial neonatal, 1","Xref_IDs__c":"C3149074; C567743; MEDGEN:460425; MONDO:0007365","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":1,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0007365","Disease_Description__c":"Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 gene.","GARD_Name__c":"Seizures, benign familial neonatal, 1","GARD_Synonym__c":"benign neonatal epilepsy 1; benign neonatal seizures caused by mutation in kcnq2; kcnq2 benign neonatal seizures; kcnq2-related benign familial neonatal epilepsy; seizures, benign familial neonatal, type 1; seizures, benign neonatal, 1","Curated_Disease_Description_Source__c":"MONDO:0007365","Curated_Disease_Description__c":"Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 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:0007365","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 benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 gene.","Curated_Disease_Description_Source__c":"MONDO:0007365","GARD_Synonym__c":"benign neonatal epilepsy 1; benign neonatal seizures caused by mutation in kcnq2; kcnq2 benign neonatal seizures; kcnq2-related benign familial neonatal epilepsy; seizures, benign familial neonatal, type 1; seizures, benign neonatal, 1","Name":"Seizures, benign familial neonatal, 1","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Epilepsy Foundation","Website__c":"https://www.epilepsy.com/"},{"Account_Name__c":"KCNQ2 Cure Alliance","Website__c":"https://www.kcnq2cure.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567743","Source__c":"MONDO:0007365","Xref__c":"C567743"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3149074","Source__c":"C3149074","Xref__c":"C3149074"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=460425","Source__c":"C3149074","Xref__c":"MEDGEN:460425"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007365","Source__c":"GARD:0009765","Xref__c":"MONDO:0007365"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KCNQ2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kcnq2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{"Account":["Epilepsy"],"Specialist":["Epilepsy"]},"synonyms":["benign neonatal epilepsy 1"," benign neonatal seizures caused by mutation in kcnq2"," kcnq2 benign neonatal seizures"," kcnq2-related benign familial neonatal epilepsy"," seizures, benign familial neonatal, type 1"," seizures, benign neonatal, 1"]}