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 ..inherited reflex epilepsy ()
Child Nodes:
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:	23224
Name:	inherited reflex epilepsy
Definition:	An instance of reflex epilepsy that is caused by an inherited modification of the individual's genome.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	hereditary reflex epilepsy
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal