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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:epilepsy
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Accession:DOID:1826 term browser browse the term
Definition:A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. (DO)
Synonyms:exact_synonym: aura;   auras;   awakening epilepsy;   convulsions;   cryptogenic epilepsies;   cryptogenic epilepsy;   epilepsies;   epilepsy syndrome;   epileptic seizure;   epileptic seizures;   epileptic syndrome;   seizure;   seizure disorder;   seizure disorders;   seizures;   single seizure;   single seizures
 narrow_synonym: EPILEPSY, MITOCHONDRIAL;   GENERALIZED-ONSET SEIZURE;   INFANTILE EPILEPSY;   INTRACTABLE SEIZURE;   benign familial juvenile epilepsy;   rare genetic epilepsy
 related_synonym: sudden unexpected death in epilepsy
 primary_id: MESH:D004827
 alt_id: MESH:D000080485;   OMIA:001596
 xref: EFO:0000474;   EFO:0009854;   ICD10CM:G40;   ICD9CM:345.9;   NCI:C3020;   OMIM:PS617290
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      disease 16465
        disease of anatomical entity 14117
          nervous system disease 12341
            central nervous system disease 11056
              brain disease 10378
                epilepsy 2624
                  AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 1
                  ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS 0
                  Alcohol Withdrawal Seizures 5
                  Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 0
                  Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 0
                  Arthrogryposis Epileptic Seizures Migrational Brain Disorder 0
                  Autosomal Dominant Intellectual Developmental Disorder 60 2
                  Baraitser-Winter syndrome + 2
                  Battaglia Neri Syndrome 0
                  Beta-Amino Acids, Renal Transport of 0
                  Borjeson-Forssman-Lehmann syndrome 1
                  Boudhina Yedes Khiari syndrome 0
                  Cerebellar Atrophy with Seizures and Variable Developmental Delay 3
                  Christianson syndrome 15
                  Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 25
                  Coffin Syndrome 1 0
                  Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies 1
                  DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES 1
                  Developmental Delay, Epilepsy, and Neonatal Diabetes 1
                  Drug Resistant Epilepsy + 2
                  Epilepsy Telangiectasia 0
                  Epilepsy, Occipital Calcifications 0
                  Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome 1
                  Febrile Seizures + 50
                  Focal Cortical Dysplasia of Taylor + 5
                  Generalized Epilepsy + 369
                  Glycosylphosphatidylinositol Deficiency + 52
                  Gurrieri Sammito Bellussi Syndrome 0
                  Halperin-Birk syndrome 1
                  INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA 1
                  Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures 1
                  Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay 2
                  Intellectual Developmental Disorder with Seizures and Language Delay 1
                  KINSSHIP syndrome 1
                  Kifafa Seizure Disorder 0
                  Kohlschutter-Tonz syndrome 20
                  MEHMO syndrome 1
                  Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 0
                  Microcephaly, Epilepsy, and Diabetes Syndrome + 18
                  Myoclonic Epilepsies + 355
                  Myopathy, Epilepsy, and Progressive Cerebral Atrophy 1
                  NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT 1
                  NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES 1
                  NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY 1
                  NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES 1
                  NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES 2
                  NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES 1
                  NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY 1
                  NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS 1
                  NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM 2
                  NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES 1
                  NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS 1
                  NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES 0
                  NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES 2
                  NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES 2
                  NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY 1
                  NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS 1
                  NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM 1
                  NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES 1
                  NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY 1
                  NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY 2
                  NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH 1
                  NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES 1
                  NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM 1
                  NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES 1
                  Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures 2
                  Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 1
                  Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy 1
                  Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 1
                  Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities 1
                  Neurodevelopmental Disorder with Seizures and Brain Abnormalities 1
                  Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements 1
                  Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment 3
                  Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities 1
                  ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME 1
                  POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME 2
                  Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 0
                  Pitt-Hopkins syndrome + 16
                  Post-Traumatic Epilepsy 0
                  Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy 60
                  Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism 1
                  Ramon Syndrome 0
                  Retinal Degeneration and Epilepsy 0
                  Rud Syndrome 0
                  SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS 1
                  SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 1
                  Sandhaus Ben-Ami Syndrome 0
                  Spinocerebellar Ataxia with Epilepsy 1
                  Webb-Dattani Syndrome 1
                  Wittwer Syndrome 5
                  X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features 1
                  X-linked epilepsy with variable learning disabilities and behavior disorders 61
                  autoimmune epilepsy 0
                  autosomal recessive spinocerebellar ataxia 12 1
                  branched-chain keto acid dehydrogenase kinase deficiency 38
                  early-onset epilepsy 2 1
                  early-onset epilepsy 3 1
                  electroclinical syndrome + 1253
                  extratemporal epilepsy 0
                  focal epilepsy + 352
                  intellectual developmental disorder with autistic features and language delay, with or without seizures 1
                  microcephaly, growth deficiency, seizures, and brain malformations 1
                  neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities 18
                  neurodevelopmental disorder with hypotonia and speech delay 1
                  neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 2
                  neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 1
                  neurodevelopmental disorder with language delay and seizures 1
                  neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0
                  pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 1
                  polyhydramnios, megalencephaly, and symptomatic epilepsy 1
                  pyridoxamine 5'-phosphate oxidase deficiency 1
                  pyridoxine-dependent epilepsy + 8
                  salt and pepper syndrome 6
                  status epilepticus + 145
                  stress-induced childhood-onset neurodegeneration with variable ataxia and seizures 1
                  syndromic X-linked intellectual disability Hedera type 12
                  visual epilepsy + 320
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