Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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: CHILDHOOD-ONSET EPILEPSY SYNDROME;   EPILEPSY, MITOCHONDRIAL;   INFANTILE EPILEPSY;   INTRACTABLE SEIZURE;   RARE EPILEPSY;   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;   MIM:PS617290;   NCI:C3020
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:


Your selection has 2968 annotated objects. The maximum number of objects that can be shown is 2000. The list is too large to display.

  • Select a more specific term using the term browser
  • Download the entire list for this term
  • Display annotations for this term only (exclude descendants)



  • Term paths to the root
    Path 1
    Term Annotations click to browse term
      disease 19100
        disease of anatomical entity 18440
          nervous system disease 14334
            central nervous system disease 12604
              brain disease 11833
                epilepsy 2995
                  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
                  Arthrogryposis, Impaired Intellectual Development, and Seizures 2
                  Autosomal Dominant Intellectual Developmental Disorder 60 2
                  Baraitser-Winter syndrome + 13
                  Battaglia Neri Syndrome 0
                  Beta-Amino Acids, Renal Transport of 0
                  Borjeson-Forssman-Lehmann syndrome 1
                  Boudhina Yedes Khiari syndrome 0
                  CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 1
                  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 WITH OR WITHOUT EPILEPSY 1
                  DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES 1
                  Developmental Delay, Epilepsy, and Neonatal Diabetes 1
                  Drug Resistant Epilepsy + 2
                  Dyskinesias, Seizures, and Intellectual Developmental Disorder 1
                  Epilepsy Telangiectasia 0
                  Epilepsy, Occipital Calcifications 0
                  Experimental Seizures 59
                  Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome 1
                  Febrile Seizures + 61
                  Focal Cortical Dysplasia of Taylor + 6
                  Generalized Epilepsy + 471
                  Glycosylphosphatidylinositol Deficiency + 52
                  Gurrieri Sammito Bellussi Syndrome 0
                  HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY + 2
                  Halperin-Birk syndrome 1
                  Hyperglycinemia, Lactic Acidosis, and Seizures 24
                  Hyperphosphatemia, Polyuria, and Seizures 0
                  Hypotonia, Seizures, and Precocious Puberty 0
                  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 Dysmorphic Facies, Seizures, and Distal Limb Anomalies 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 21
                  MEHMO syndrome 1
                  Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 0
                  Microcephaly, Epilepsy, and Diabetes Syndrome + 19
                  Myoclonic Epilepsies + 400
                  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 HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES 1
                  NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES 1
                  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 1
                  NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES 4
                  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 1
                  NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH 2
                  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
                  PEHO-like 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 65
                  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
                  Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 1
                  Webb-Dattani Syndrome 1
                  Wittwer Syndrome 5
                  X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features 2
                  X-linked epilepsy with variable learning disabilities and behavior disorders 65
                  autoimmune epilepsy 0
                  autosomal recessive spinocerebellar ataxia 12 2
                  branched-chain keto acid dehydrogenase kinase deficiency 38
                  developmental delay and seizures with or without movement abnormalities 1
                  early-onset epilepsy 2 1
                  early-onset epilepsy 3 1
                  electroclinical syndrome + 1510
                  extratemporal epilepsy 0
                  focal epilepsy + 387
                  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 19
                  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 1
                  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 + 167
                  stress-induced childhood-onset neurodegeneration with variable ataxia and seizures 1
                  syndromic X-linked intellectual disability Hedera type 12
                  visual epilepsy + 265
    paths to the root