{"Name":"Myoclonic epilepsy in non-progressive encephalopathies","DiseaseID__c":"GARD:0019088","id":19088,"encodedName":"myoclonic-epilepsy-in-non-progressive-encephalopathies","IsDeleted":false,"Disease_Name_Full__c":"Myoclonic epilepsy in non-progressive encephalopathies","Xref_IDs__c":"C4755298; MEDGEN:1661865; MONDO:0019488; ORPHA:86913","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":2,"Description_Source__c":"MONDO:0019488","Disease_Description__c":"A rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances.","GARD_Name__c":"Myoclonic epilepsy in non-progressive encephalopathies","GARD_Synonym__c":"myoclonic epilepsy in non-progressive encephalopathy; myoclonic status in non-progressive encephalopathies; myoclonus epilepsy in non-progressive encephalopathies","Curated_Disease_Description_Source__c":"ORPHA:86913","Curated_Disease_Description__c":"Myoclonic epilepsy in non-progressive encephalopathies is a rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:86913","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019488","ORPHANET_ID__c":"ORPHA:86913","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epilepsia mioclónica en encefalopatías no progresivas","Spanish_Description_Source__c":"ORPHA:86913","Spanish_Description__c":"La epilepsia mioclónica en encefalopatías no progresivas, es un síndrome de epilepsia poco frecuente caracterizado por estatus mioclónico recurrente y de larga duración en lactantes y en niños pequeños con una encefalopatía no progresiva asociada a trastornos motores, cognitivos y/o conductuales transitorios y recurrentes.","Spanish_Disease_Name__c":"epilepsia mioclónica en encefalopatías no progresivas","Spanish_GARD_Synonym__c":"epilepsia con mioclonías en encefalopatías no progresivas; estatus mioclónico en encefalopatías no progresivas","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":"Myoclonic epilepsy in non-progressive encephalopathies is a rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances.","Curated_Disease_Description_Source__c":"ORPHA:86913","GARD_Synonym__c":"myoclonic epilepsy in non-progressive encephalopathy; myoclonic status in non-progressive encephalopathies; myoclonus epilepsy in non-progressive encephalopathies","Name":"Myoclonic epilepsy in non-progressive encephalopathies","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Epilepsy Foundation","Website__c":"https://www.epilepsy.com/"}],"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":"Childhood","Provided_By__c":"ORPHA:86913"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:86913"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4755298","Source__c":"C4755298","Xref__c":"C4755298"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1661865","Source__c":"C4755298","Xref__c":"MEDGEN:1661865"},{"URL__c":"https://www.orpha.net/en/disease/detail/86913","Source__c":"MONDO:0019488","Xref__c":"ORPHA:86913"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019488","Source__c":"GARD:0019088","Xref__c":"MONDO:0019488"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=778047006","Source__c":"C4755298","Xref__c":"778047006"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["myoclonic epilepsy in non-progressive encephalopathy"," myoclonic status in non-progressive encephalopathies"," myoclonus epilepsy in non-progressive encephalopathies"]}