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 ..neonatal period electroclinical syndrome ()
Child Nodes:
........benign familial neonatal epilepsy ()
........benign neonatal seizures ()
........early myoclonic encephalopathy ()
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:	412
Name:	neonatal period electroclinical syndrome
Definition:	An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.
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Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal