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: variable age onset epilepsy (MONDO:0100036)
..Starting node ..reflex epilepsy ()
Child 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 ()
Sister Nodes:
..familial focal epilepsy with variable foci ()
..progressive epilepsy and/or ataxia with myoclonus as a major feature ()
..progressive myoclonic epilepsy ()
..reflex epilepsy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	17768
Name:	reflex epilepsy
Definition:	Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy, see these terms), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy).
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	epilepsy, sensory-induced
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal