MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: reflex epilepsy (MONDO:0017768)
..Starting node ..photosensitive epilepsy ()
Child Nodes:
........PPR1 ()
........PPR2 ()
........PPR3 ()
Sister Nodes:
..audiogenic seizures ()
..eating seizures ()
..hot water reflex epilepsy ()
..inherited reflex epilepsy ()
..micturation-induced seizures ()
..orgasm-induced seizures ()
..photosensitive epilepsy ()
..reading seizures ()
..startle epilepsy ()
..tactile epilepsy ()
..thinking seizures ()
..visual epilepsy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	15643
Name:	photosensitive epilepsy
Definition:	An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	photogenic epilepsy; photoparoxysmal response; PSE
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal