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: exanthem (disease) (MONDO:0006547)
Parent Node: skin disease caused by infection (MONDO:0024294)
Parent Node: smallpox (MONDO:0004651)
..Starting node ..variola major infectious disease ()
Child Nodes:
Sister Nodes:
..variola major infectious disease ()
..variola minor infection ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	338
Name:	variola major infectious disease
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	variola major
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: SLC25A13;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal