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 ..infancy electroclinical syndrome ()
Child Nodes:
........benign familial infantile epilepsy ()
........Dravet syndrome ()
........West syndrome ()
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:	413
Name:	infancy electroclinical syndrome
Definition:	An electroclinical syndrome with onset in infancy occurring between birth and one year of age.
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Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal