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 ..hot water reflex epilepsy ()
Child Nodes:
........epilepsy, hot water, 1 ()
........epilepsy, hot water, 2 ()
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:	13229
Name:	hot water reflex epilepsy
Definition:	Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	bathing epilepsy; epilepsy, hot water; hot water epilepsy; water immersion epilepsy
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal