DiseaseID 8274
反射性癫痫
disease
MSH2017_2016_08_12:An autosomal dominant inherited partial epilepsy syndrome with onset between age 3 and 13 years. Seizures are characterized by PARESTHESIA and tonic or clonic activity of the lower face associated with
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Disease: 1Formula: 20Herb: 2Symptom: 12Target: 24Links: 58
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 8274
- Core Entity Id
- 65188
- Source Entity Count
- 1
- Preferred Name
- Epilepsy, Reflex
- Name Cn
- 反射性癫痫
- Name Pinyin
- Fan She Xing Dian Xian
- Name En
- Epilepsy, Reflex
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Nervous System DiseasesSkin and Connective Tissue DiseasesStomatognathic Diseases; Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
- Do Class
- disease of anatomical entity
- Hpo Class
- Abnormality of the integumentAbnormality of the nervous system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Stomatognathic DiseasesNervous System DiseasesSkin and Connective Tissue Diseases
- Hpo Class Name
- Abnormality of the integumentAbnormality of the nervous system
- Do Class Name
- disease of anatomical entity
- Disease Definition
- MSH2017_2016_08_12:An autosomal dominant inherited partial epilepsy syndrome with onset between age 3 and 13 years. Seizures are characterized by PARESTHESIA and tonic or clonic activity of the lower face associated with drooling and dysarthria. In most cases, affected children are neurologically and developmentally normal. (From Epilepsia 1998 39;Suppl 4:S32-S41)
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Epilepsy, Reflex
Role
preferred
Name
Cursive Epilepsy
Role
preferred
Name
Epilepsy, Musicogenic
Role
preferred
Name
Epilepsy, Rolandic
Role
preferred
Name
Immersion Related Epilepsy
Role
preferred
Name
Landau-Kleffner Syndrome
Role
preferred
Name
Photosensitivity Disorders
Role
preferred
Name
Reflex Epilepsy, Photosensitive
Role
preferred
Name
Benign Rolandic Epilepsy
Role
preferred
Name
Continuous Spike And Waves During Slow Sleep
Role
preferred
Name
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
Role
preferred
Name
EPILEPSY, HOT WATER, 1
Role
preferred
Name
Epilepsy, Early-Onset, Vitamin B6-Dependent
Role
preferred
Name
Kohlschutter Tonz Syndrome
Role
preferred
Name
Kohlschutter-Tonz Syndrome
Role
preferred
Name
PHOTOPAROXYSMAL RESPONSE 1
Role
preferred
Name
Photosensitivity of Skin
Role
preferred
Name
Pyridoxine-Dependent Epilepsy
Role
preferred
Name
Reflex Epilepsy, Audiogenic
Role
preferred
Name
Reflex Epilepsy, Reading
Role
preferred
Name
Acquired Aphasia With Epilepsy [Landau-Kleffner]
Role
alias
Name
Bathing Epilepsy
Role
alias
Name
Benign Epilepsy With Centrotemporal Spikes
Role
alias
Name
Centralopathic Epilepsy
Role
alias
Name
Continuous Spike And Waves During Slow-Wave Sleep Syndrome
Role
alias
Name
Csws
Role
alias
Name
Cutaneous Photosensitivity
Role
alias
Name
Epilepsy, Reading
Role
alias
Name
Photosensitive Epilepsy
Role
alias
Name
Photosensitive Skin
Role
alias
Name
Photosensitive Skin Rashes
Role
alias
Name
Photosensitivity
Role
alias
Name
Photosensitivity Disease
Role
alias
Name
Photosensitization
Role
alias
Name
Reflex Epilepsy
Role
alias
Name
Sensitivity To Sunlight
Role
alias
Name
Skin Photosensitivity
Role
alias
Name
Sun Sensitivity
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0000992HP:0031491
Herb
HBDIS002387HBDIS006517HBDIS007250HBDIS008474HBDIS008570HBDIS008708HBDIS008709HBDIS008988HBDIS011463HBDIS018468HBDIS019137HBDIS022217HBDIS022218HBDIS027230HBDIS028399HBDIS029916
Me Sh
D010787D018887D019305D020195
Omim
132300226750245570617290
Umls
C0031762C0270819C0270857C0278198C0282512C0376532C0393720C0393729C0406740C1291560C1832814C1849508C2363129C3806402C3806403
Icd10
F80.3G40.8
Sym Map
SMDE01009SMDE01059SMDE03024SMDE06382SMDE07665SMDE08407SMDE08414SMDE08415SMDE09787SMDE10274SMDE12153SMDE12749
Do Class
DOID:7
Dis Ge Net
C0031762C0270857C0278193C0282512C0349506C0376532C0393720C0393729C0406740C0751791C1868677C2363129C3806402C3806403C4310632C4551550
Orphanet
19463006
Umls Sty
T046T047T048
Hpo Class
HP:0000707HP:0001574
Me Sh Class
C07C10C16C17F03
Etcm Disease
Epilepsy, Early-Onset, Vitamin B6-DependentEpilepsy, Focal, with Speech Disorder and with or Without Mental RetardationKohlschutter-Tonz Syndrome
Tcmbank Disease
1048711968134961778920449206792368926165281223015932443544164468041
Itcmdb Generated
ITX-DISEASE-019D9046E5D5ITX-DISEASE-091B18DE2C82ITX-DISEASE-1D21B4FB5BE6ITX-DISEASE-298445D306A2ITX-DISEASE-4621C9EDB50DITX-DISEASE-79596A187D4DITX-DISEASE-7B94F1576A54ITX-DISEASE-80483DD2FCC9ITX-DISEASE-80D879873175ITX-DISEASE-BEFA076B30C5ITX-DISEASE-FED7456564CA
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Epilepsy, Early-Onset, Vitamin B6-Dependent Details pageDisease Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation Details pageDisease Kohlschutter-Tonz Syndrome Details page
Do Class Name
disease of anatomical entity
Disease Type
diseasegroupphenotype
Hpo Class Name
Abnormality of the integumentAbnormality of the nervous system
Do Disease Class
disease of anatomical entity
Hpo Disease Class
Abnormality of the integumentAbnormality of the nervous system
Umls Disease Type
Disease or SyndromeMental or Behavioral DysfunctionPathologic Function
Basic Information
Disease Name
Epilepsy, Early-Onset, Vitamin B6-Dependent
Global Category
Genetic diseases
Anatomical Category
Neuronal diseases
Disease Name
Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Mental diseases;Neuronal diseases
Disease Name
Kohlschutter-Tonz Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Mental diseases;Neuronal diseases;Oral diseases;Skin diseases
Disease Definition
MSH2017_2016_08_12:An autosomal dominant inherited partial epilepsy syndrome with onset between age 3 and 13 years. Seizures are characterized by PARESTHESIA and tonic or clonic activity of the lower face associated with drooling and dysarthria. In most cases, affected children are neurologically and developmentally normal. (From Epilepsia 1998 39;Suppl 4:S32-S41)NCI2016_02D:A rare childhood syndrome characterized by the progressive or sudden inability to understand and use spoken language (aphasia) and paroxysmal electrical brain waves. Patients develop epileptic seizures and behavioral changes.|MSH2017_2016_08_12:A syndrome characterized by the onset of isolated language dysfunction in otherwise normal children (age of onset 4-7 years) and epileptiform discharges on ELECTROENCEPHALOGRAPHY. Seizures, including atypical absence (EPILEPSY, ABSENCE), complex partial (EPILEPSY, COMPLEX PARTIAL), and other types may occur. The electroencephalographic abnormalities and seizures tend to resolve by puberty. The language disorder may also resolve although some individuals are left with severe language dysfunction, including APHASIA and auditory AGNOSIA. (From Menkes, Textbook of Child Neurology, 5th ed, pp749-50; J Child Neurol 1997 Nov;12(8):489-495)NCI2016_02D:Epilepsy triggered by an external stimulus or an internal mental process. Photosensitive epilepsy is the most common form of reflex epilepsy.|MSH2017_2016_08_12:A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals. (From Neurol Clin 1994 Feb;12(1):57-8)|CSP2006:a subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus; auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals.NCI2016_NICHD_1602D:A neurological disorder of childhood characterized by partial seizures consisting of twitching, numbness, or tingling of the face or tongue that often progress to secondary generalized seizures.|NCI2016_02D:A neurological disorder of childhood characterized by partial seizures consisting of twitching, numbness, or tingling of the face or tongue that often progress to secondary generalized seizures.Pyridoxine-dependent epilepsy (PDE) is a rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epilepticSNOMEDCT_US_2016_09_01:Amelogenesis imperfecta, intellectual disability, and epileptic seizures.|SNOMEDCT_US_2016_09_01:Ameliogenesis imperfecta, mental retardation, and epileptic seizuresSNOMEDCT_US_2016_09_01:Dermatitis caused by exposure to sunlight|SNOMEDCT_US_2016_09_01:An abnormal inflammatory skin condition resulting from exposure to ultraviolet light, most commonly sunlight. May result from phototoxic or photoallergic reactions or both.|MSH2017_2016_08_12:Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy.
Me Sh Disease Class
Nervous System DiseasesSkin and Connective Tissue DiseasesStomatognathic Diseases; Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Dis Ge Net Disease Type
diseasegroupphenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Stomatognathic DiseasesNervous System DiseasesSkin and Connective Tissue Diseases
Umls Semantic Type Name
Disease or SyndromeMental or Behavioral DysfunctionPathologic Function