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: childhood electroclinical syndrome (MONDO:0000414)
..Starting node ..early onset absence epilepsy ()
Child Nodes:
Sister Nodes:
..childhood absence epilepsy ()
..early onset absence epilepsy ()
..juvenile myoclonic epilepsy ()
..Landau-Kleffner syndrome ()
..Lennox-Gastaut syndrome ()
..MERRF syndrome () L: 00162;
..myoclonic epilepsy, progressive ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	417
Name:	early onset absence epilepsy
Definition:	A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years.
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Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: ALDH2;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal