MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

Hello! Guest! Please Login or Register! Clinician Mode

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: epilepsy and/or ataxia with myoclonus as major feature (MONDO:0017653)
Parent Node: variable age onset epilepsy (MONDO:0100036)
..Starting node ..progressive epilepsy and/or ataxia with myoclonus as a major feature ()
Child Nodes:
........Lafora disease ()
........progressive myoclonic epilepsy type 7 ()
........spinal muscular atrophy-progressive myoclonic epilepsy syndrome ()
........Unverricht-Lundborg syndrome ()
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:	17655
Name:	progressive epilepsy and/or ataxia with myoclonus as a major feature
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal