{"_id":"MONDO:0009696","_version":1,"ctd":{"chemical_related_to_disease":[{"cas_registry_number":"59-66-5","chemical_name":"Acetazolamide","direct_evidence":"therapeutic","mesh_chemical_id":"D000086","pubmed":"2122276","source":"CTD"},{"chemical_name":"Levetiracetam","direct_evidence":"therapeutic","mesh_chemical_id":"D000077287","pubmed":"19265183","source":"CTD"},{"cas_registry_number":"99-66-1","chemical_name":"Valproic Acid","direct_evidence":"therapeutic","mesh_chemical_id":"D014635","pubmed":"19177810","source":"CTD"}],"mesh":"D020190","pathway_related_to_disease":[{"inference_gene_symbol":"CACNB4","kegg_pathway_id":"hsa04010","pathway_name":"MAPK signaling pathway","source":"CTD"},{"inference_gene_symbol":"GABRA1","kegg_pathway_id":"hsa04080","pathway_name":"Neuroactive ligand-receptor interaction","source":"CTD"},{"inference_gene_symbol":"CACNB4","kegg_pathway_id":"hsa04260","pathway_name":"Cardiac muscle contraction","source":"CTD"},{"inference_gene_symbol":"CACNB4","kegg_pathway_id":"hsa04261","pathway_name":"Adrenergic signaling in cardiomyocytes","source":"CTD"},{"inference_gene_symbol":"GABRA1","kegg_pathway_id":"hsa04723","pathway_name":"Retrograde endocannabinoid signaling","source":"CTD"},{"inference_gene_symbol":"GABRA1","kegg_pathway_id":"hsa04727","pathway_name":"GABAergic synapse","source":"CTD"},{"inference_gene_symbol":"GABRA1","kegg_pathway_id":"hsa04742","pathway_name":"Taste transduction","source":"CTD"},{"inference_gene_symbol":"CACNB4","kegg_pathway_id":"hsa04921","pathway_name":"Oxytocin signaling pathway","source":"CTD"},{"inference_gene_symbol":"GABRA1","kegg_pathway_id":"hsa05032","pathway_name":"Morphine addiction","source":"CTD"},{"inference_gene_symbol":"GABRA1","kegg_pathway_id":"hsa05033","pathway_name":"Nicotine addiction","source":"CTD"},{"inference_gene_symbol":"CACNB4","kegg_pathway_id":"hsa05410","pathway_name":"Hypertrophic cardiomyopathy (HCM)","source":"CTD"},{"inference_gene_symbol":"CACNB4","kegg_pathway_id":"hsa05412","pathway_name":"Arrhythmogenic right ventricular cardiomyopathy (ARVC)","source":"CTD"},{"inference_gene_symbol":"CACNB4","kegg_pathway_id":"hsa05414","pathway_name":"Dilated cardiomyopathy","source":"CTD"},{"inference_gene_symbol":"CACNB4","pathway_name":"Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels","react_pathway_id":"R-HSA-112308","source":"CTD"},{"inference_gene_symbol":"GABRA1","pathway_name":"Neurotransmitter Receptor Binding And Downstream Transmission In The  Postsynaptic Cell","react_pathway_id":"R-HSA-112314","source":"CTD"},{"inference_gene_symbol":["CACNB4","GABRA1"],"pathway_name":"Transmission across Chemical Synapses","react_pathway_id":"R-HSA-112315","source":"CTD"},{"inference_gene_symbol":["CACNB4","GABRA1"],"pathway_name":"Neuronal System","react_pathway_id":"R-HSA-112316","source":"CTD"},{"inference_gene_symbol":"CACNB4","pathway_name":"Developmental Biology","react_pathway_id":"R-HSA-1266738","source":"CTD"},{"inference_gene_symbol":"CACNB4","pathway_name":"NCAM signaling for neurite out-growth","react_pathway_id":"R-HSA-375165","source":"CTD"},{"inference_gene_symbol":"GABRA1","pathway_name":"Transmembrane transport of small molecules","react_pathway_id":"R-HSA-382551","source":"CTD"},{"inference_gene_symbol":"CACNB4","pathway_name":"Muscle contraction","react_pathway_id":"R-HSA-397014","source":"CTD"},{"inference_gene_symbol":"CACNB4","pathway_name":"NCAM1 interactions","react_pathway_id":"R-HSA-419037","source":"CTD"},{"inference_gene_symbol":"CACNB4","pathway_name":"Axon guidance","react_pathway_id":"R-HSA-422475","source":"CTD"},{"inference_gene_symbol":"CACNB4","pathway_name":"Cardiac conduction","react_pathway_id":"R-HSA-5576891","source":"CTD"},{"inference_gene_symbol":"CACNB4","pathway_name":"Phase 0 - rapid depolarisation","react_pathway_id":"R-HSA-5576892","source":"CTD"},{"inference_gene_symbol":"CACNB4","pathway_name":"Phase 2 - plateau phase","react_pathway_id":"R-HSA-5576893","source":"CTD"},{"inference_gene_symbol":"GABRA1","pathway_name":"Ligand-gated ion channel transport","react_pathway_id":"R-HSA-975298","source":"CTD"},{"inference_gene_symbol":"GABRA1","pathway_name":"GABA A receptor activation","react_pathway_id":"R-HSA-977441","source":"CTD"},{"inference_gene_symbol":"GABRA1","pathway_name":"GABA receptor activation","react_pathway_id":"R-HSA-977443","source":"CTD"},{"inference_gene_symbol":"GABRA1","pathway_name":"Ion channel transport","react_pathway_id":"R-HSA-983712","source":"CTD"}]},"disease_ontology":{"_license":"https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt","ancestors":["DOID:1826","DOID:331","DOID:0050701","DOID:4","DOID:936","DOID:0050705","DOID:863","DOID:7","DOID:0070309"],"children":["DOID:0111325","DOID:0111326","DOID:0111327","DOID:0111328"],"def":"\"A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years.\" [url:http\\://en.wikipedia.org/wiki/Juvenile_myoclonic_epilepsy, url:http\\://www.epilepsy.com/epilepsy/epilepsy_juvenilemyoclonic, url:http\\://www.ilae-epilepsy.org/Visitors/Documents/EngelClassificationRepo]","descendants":["DOID:0111325","DOID:0111328","DOID:0111327","DOID:0111326"],"doid":"DOID:4890","name":"juvenile myoclonic epilepsy","parents":["DOID:0050705"],"synonyms":{},"xrefs":{"gard":"6808","mesh":"D020190","mim":"254770","ncit":"C84796","ordo":["307","862"],"snomedct_us_2025_09_01":"6204001","umls_cui":"C0270853"}},"hpo":[{"clinical_course":{"biocuration":{"date":"2022-08-19","name":"HPO:probinson"},"evidence":"PCS","hpo_id":"HP:0003621","hpo_name":"Juvenile onset","original_disease_id":"OMIM:254770","pmid_refs":"PMID:33969125"},"disease_name":"Myoclonic epilepsy, juvenile, susceptibility to, 1","inheritance":{"biocuration":[{"date":"2012-10-17","name":"HPO:skoehler"},{"date":"2022-08-18","name":"HPO:probinson"}],"evidence":"PCS","hpo_id":"HP:0000006","hpo_name":"Autosomal dominant inheritance","original_disease_id":"OMIM:254770","pmid_refs":"PMID:15258581"},"omim":"254770","phenotype_related_to_disease":[{"biocuration":[{"date":"2024-03-09","name":"HPO:probinson"},{"date":"2012-09-20","name":"HPO:probinson"},{"date":"2022-08-19","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":23,"freq_numerator":13,"hpo_id":"HP:0002069","numeric_freq":0.5652173913043478,"original_disease_id":"OMIM:254770","pmid_refs":["PMID:33969125","PMID:15258581"]},{"biocuration":{"date":"2012-09-20","name":"HPO:probinson"},"evidence":"TAS","hpo_id":"HP:0012001","omim_refs":"OMIM:254770","original_disease_id":"OMIM:254770"},{"biocuration":{"date":"2012-09-20","name":"HPO:probinson"},"evidence":"TAS","hpo_id":"HP:0002133","omim_refs":"OMIM:254770","original_disease_id":"OMIM:254770"},{"biocuration":[{"date":"2024-03-09","name":"HPO:probinson"},{"date":"2012-09-20","name":"HPO:probinson"},{"date":"2022-08-19","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":23,"freq_numerator":14,"hpo_id":"HP:0002121","numeric_freq":0.6086956521739131,"original_disease_id":"OMIM:254770","pmid_refs":["PMID:33969125","PMID:15258581"]},{"biocuration":[{"date":"2012-09-20","name":"HPO:probinson"},{"date":"2022-08-19","name":"HPO:probinson"}],"evidence":"PCS","hpo_id":"HP:0007000","original_disease_id":"OMIM:254770","pmid_refs":"PMID:33969125"},{"biocuration":{"date":"2024-03-09","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":13,"freq_numerator":10,"hpo_id":"HP:0032794","numeric_freq":0.7692307692307693,"original_disease_id":"OMIM:254770","pmid_refs":"PMID:15258581"},{"biocuration":[{"date":"2014-11-26","name":"HPO:skoehler"},{"date":"2024-03-09","name":"HPO:probinson"}],"evidence":"PCS","hpo_id":"HP:0001249","original_disease_id":"OMIM:254770","pmid_refs":"PMID:15258581"}]},{"disease_name":"Juvenile myoclonic epilepsy","orphanet":"307","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002197","orphanet_refs":"orphanet:307"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002392","orphanet_refs":"orphanet:307"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0007000","orphanet_refs":"orphanet:307"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000153","orphanet_refs":"orphanet:307"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000496","orphanet_refs":"orphanet:307"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002121","orphanet_refs":"orphanet:307"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002373","orphanet_refs":"orphanet:307"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0007207","orphanet_refs":"orphanet:307"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0000718","orphanet_refs":"orphanet:307"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0002133","orphanet_refs":"orphanet:307"}]}],"mondo":{"ancestors":["MONDO:0005560","MONDO:7770009","MONDO:0000001","MONDO:0100576","MONDO:0100574","MONDO:0002602","MONDO:0100575","MONDO:0005579","MONDO:0100577","MONDO:0015650","MONDO:0005027","MONDO:7770008","MONDO:0800487","MONDO:0005071","MONDO:7770006","MONDO:0100619","MONDO:0700096","MONDO:0003847","MONDO:0100545"],"children":["MONDO:0800330"],"definition":"The most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases). [https://orcid.org/0000-0001-5208-3432, Orphanet:307]","descendants":["MONDO:0800330"],"disease_has_feature":{"hp":["HP:0001336"]},"excluded_subClassOf":{"mondo":["MONDO:0000415"]},"has_characteristic":{"hp":["HP:0003621"]},"has_material_basis_in_germline_mutation_in":{"http":["http://identifiers.org/hgnc/16406"]},"label":"juvenile myoclonic epilepsy","mondo":"MONDO:0009696","parents":["MONDO:0100577","MONDO:0800487"],"should_conform_to":{"http":["http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml"]},"synonym":{"exact":["EJM","epilepsy, myoclonic juvenile","JME","juvenile myoclonus epilepsy","myoclonic epilepsy, juvenile","myoclonic epilepsy, juvenile, 1"]},"xrefs":{"doid":["DOID:4890"],"gard":["0006808"],"icd10cm":["G40.B"],"icd11":["foundation:1014397110"],"icd9":["345.10"],"meddra":["10071082"],"medgen":["78738"],"mesh":["D020190"],"ncit":["C84796"],"omim":["606904","254770"],"omimps":["254770"],"orphanet":["307"],"sctid":["6204001"],"umls":["C0270853"]}},"original_id":"orphanet:307","umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","mesh":{"non-preferred":"D020190","preferred":"D020190"},"nci":{"preferred":"C84796"},"snomed":{"non-preferred":"6204001","preferred":"6204001"},"umls":"C0270853"}}