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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 disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)
Synonyms:exact_synonym: Epilepsies;   Epileptic Seizure;   Epileptic Seizures;   Seizures;   aura;   auras;   awakening epilepsy;   cryptogenic epilepsies;   cryptogenic epilepsy;   epilepsy syndrome;   epileptic syndrome;   seizure disorder;   seizure disorders;   single seizure;   single seizures
 narrow_synonym: EPILEPSY, MITOCHONDRIAL;   Epilepsy, benign familial juvenile;   INFANTILE EPILEPSY;   INTRACTABLE SEIZURE
 related_synonym: sudden unexpected death in epilepsy
 primary_id: MESH:D004827
 alt_id: MESH:D000080485;   OMIA:001596
 xref: ICD10CM:G40.909;   ICD9CM:345.9;   NCI:C3020;   OMIM:PS613339
For additional species annotation, visit the Alliance of Genome Resources.


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      disease 17205
        disease of anatomical entity 16551
          nervous system disease 12097
            central nervous system disease 10373
              brain disease 9736
                epilepsy 2154
                  AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 1
                  Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 0
                  Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 0
                  Arthrogryposis Epileptic Seizures Migrational Brain Disorder 0
                  Autosomal Dominant Mental Retardation 60 1
                  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 2
                  Christianson syndrome 5
                  Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 0
                  Coffin Syndrome 1 0
                  Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies 1
                  Developmental Delay, Epilepsy, and Neonatal Diabetes 1
                  Drug Resistant Epilepsy + 2
                  EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY 1
                  Epilepsy Telangiectasia 0
                  Epilepsy, Hearing Loss, and Mental Retardation Syndrome 4
                  Epilepsy, Occipital Calcifications 0
                  Epilepsy, Post-Traumatic 0
                  Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome 1
                  Febrile Seizures + 43
                  Focal Cortical Dysplasia of Taylor + 5
                  Generalized Epilepsy + 280
                  Glycosylphosphatidylinositol Deficiency + 35
                  Gurrieri Sammito Bellussi Syndrome 0
                  Hot Water Epilepsy + 0
                  INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES 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 1
                  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
                  Microcephaly, Growth Deficiency, Seizures, and Brain Malformations 1
                  Myoclonic Epilepsies + 119
                  Myopathy, Epilepsy, and Progressive Cerebral Atrophy 1
                  NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY 1
                  NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES 2
                  NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM 1
                  NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES 1
                  NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY 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 1
                  NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES 1
                  NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES 1
                  Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures 1
                  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 Regression, Abnormal Movements, Loss of Speech, and Seizures 1
                  Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements 1
                  Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment 1
                  ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME 1
                  PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES 1
                  POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME 1
                  Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 0
                  Pitt-Hopkins syndrome + 16
                  Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 1
                  Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy 1
                  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 3
                  X-linked epilepsy with variable learning disabilities and behavior disorders 12
                  autoimmune epilepsy 0
                  autosomal dominant mental retardation 20 1
                  autosomal recessive spinocerebellar ataxia 12 2
                  branched-chain keto acid dehydrogenase kinase deficiency 37
                  early-onset vitamin B6-dependent epilepsy 1
                  electroclinical syndrome + 699
                  extratemporal epilepsy 0
                  focal epilepsy + 414
                  pyridoxamine 5'-phosphate oxidase deficiency 1
                  pyridoxine-dependent epilepsy 7
                  salt and pepper syndrome 4
                  status epilepticus + 158
                  stress-induced childhood-onset neurodegeneration with variable ataxia and seizures 1
                  syndromic X-linked intellectual disability Hedera type 12
                  visual epilepsy + 798
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