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: primary bacterial infectious disease (MONDO:0000314)
Parent Node: rat-bite fever (MONDO:0006941)
Parent Node: streptobacillus infectious disease (MONDO:0001667)
..Starting node ..streptobacillary rat-bite fever ()
Child Nodes:
Sister Nodes:
..streptobacillary rat-bite fever ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	20533
Name:	streptobacillary rat-bite fever
Definition:	Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats.
Alternative IDs:
ParentIDs:
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Synonyms:	Haverhill fever; Streptobacillary fever; streptobacillary rat-bite fever; Streptobacillosis
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal