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: adolescent-onset epilepsy syndrome (MONDO:0020073)
..Starting node ..benign focal seizures of adolescence ()
Child Nodes:
Sister Nodes:
..benign adult familial myoclonic epilepsy ()
..benign focal seizures of adolescence ()
..familial partial epilepsy ()
..new-onset refractory status epilepticus ()
..progressive myoclonic epilepsy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	15471
Name:	benign focal seizures of adolescence
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	adolescent benign focal crisis
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal