{"Name":"Epilepsy with myoclonic absences","DiseaseID__c":"GARD:0019087","id":19087,"encodedName":"epilepsy-with-myoclonic-absences","IsDeleted":false,"Disease_Name_Full__c":"Epilepsy with myoclonic absences","Xref_IDs__c":"230422001; C0393703; MEDGEN:140741; MONDO:0019487; ORPHA:86911","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"ORPHA:86911","Disease_Description__c":"A rare childhood-onset epilepsy characterized by sudden onset, short lasting absence associated with rhythmical myoclonia of head and shoulders.","GARD_Name__c":"Epilepsy with myoclonic absences","GARD_Synonym__c":"ema; ema - epilepsy with myoclonic absence; epilepsy with myoclonic absence; myoclonic absence epilepsy","Curated_Disease_Description_Source__c":"ORPHA:86911","Curated_Disease_Description__c":"A rare childhood-onset epilepsy characterized by sudden onset, short lasting absence associated with rhythmical myoclonia of head and shoulders.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:86911","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019487","ORPHANET_ID__c":"ORPHA:86911","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epilepsia con ausencias mioclónicas","Spanish_Description_Source__c":"ORPHA:86911","Spanish_Description__c":"Es una epilepsia poco frecuente de inicio en la infancia caracterizada por un inicio repentino, con ausencias de corta duración asociadas con mioclonía rítmica de cabeza y hombros.","Spanish_Disease_Name__c":"epilepsia con ausencias mioclónicas","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","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":"A rare childhood-onset epilepsy characterized by sudden onset, short lasting absence associated with rhythmical myoclonia of head and shoulders.","Curated_Disease_Description_Source__c":"ORPHA:86911","GARD_Synonym__c":"ema; ema - epilepsy with myoclonic absence; epilepsy with myoclonic absence; myoclonic absence epilepsy","Name":"Epilepsy with myoclonic absences","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Epilepsy Foundation","Website__c":"https://www.epilepsy.com/"},{"Account_Name__c":"Epilepsy Action","Website__c":"https://www.epilepsy.org.uk/"}],"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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:86911"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:86911"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:86911"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=230422001","Source__c":"C0393703; MONDO:0019487","Xref__c":"230422001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=140741","Source__c":"C0393703","Xref__c":"MEDGEN:140741"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0393703","Source__c":"C0393703","Xref__c":"C0393703"},{"URL__c":"https://www.orpha.net/en/disease/detail/86911","Source__c":"C0393703; MONDO:0019487; ORPHA:86911","Xref__c":"ORPHA:86911"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019487","Source__c":"GARD:0019087","Xref__c":"MONDO:0019487"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC2A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/slc2a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Non-Mendelian inheritance"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["ema"," ema - epilepsy with myoclonic absence"," epilepsy with myoclonic absence"," myoclonic absence epilepsy"]}