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: electroclinical syndrome (MONDO:0000411)
..Starting node ..childhood electroclinical syndrome ()
Child Nodes:
........childhood absence epilepsy ()
........early onset absence epilepsy ()
........juvenile myoclonic epilepsy ()
........Landau-Kleffner syndrome ()
........Lennox-Gastaut syndrome ()
........MERRF syndrome () L: 00162;
........myoclonic epilepsy, progressive ()
Sister Nodes:
..adolescence-adult electroclinical syndrome ()
..childhood electroclinical syndrome ()
..infancy electroclinical syndrome ()
..neonatal period electroclinical syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	414
Name:	childhood electroclinical syndrome
Definition:	A electroclinical syndrome that occurs during childhood.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	electroclinical syndrome of childhood; pediatric electroclinical syndrome; pediatric electroclinical syndrome
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal