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: acquired neuromuscular junction disease (MONDO:0020125)
Parent Node: Clostridium infectious disease (MONDO:0024388)
Parent Node: infectious disease of the nervous system (MONDO:0020010)
Parent Node: primary bacterial infectious disease (MONDO:0000314)
..Starting node ..botulism ()
Child Nodes:
........foodborne botulism ()
........iatrogenic botulism ()
........inhalational botulism ()
........toxin-mediated infectious botulism ()
Sister Nodes:
..anthrax infection ()
..bartonellosis ()
..botulism ()
..brucellosis ()
..Buruli ulcer disease ()
..campylobacteriosis ()
..chancroid ()
..cholera ()
..diphtheria ()
..ehrlichiosis ()
..glanders ()
..gonorrhea ()
..granuloma inguinale ()
..legionellosis ()
..leprosy ()
..leptospirosis ()
..listeriosis ()
..Lyme disease ()
..melioidosis ()
..mycobacterium avium complex disease ()
..ornithosis ()
..paratyphoid fever ()
..pinta disease ()
..plague ()
..Q fever ()
..relapsing fever ()
..rhinoscleroma ()
..salmonellosis ()
..shigellosis ()
..spirillary rat-bite fever ()
..staphyloenterotoxemia ()
..streptobacillary rat-bite fever ()
..syphilis ()
..tetanus ()
..tuberculosis ()
..tularemia ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5498
Name:	botulism
Definition:	A serious bacterial infection caused by botulinum toxin which is produced by Clostridium botulinum. Patients are infected usually by ingestion of contaminated food or wound contamination. It leads to muscle paralysis which may result in respiratory failure.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	botulism; botulism poisoning; food poisoning due to Clostridium botulinum; foodborne botulism; foodborne botulism (subtype); infant botulism (subtype); infection due to Clostridium botulinum; intoxication with Clostridium botulinum toxin; wound botulism (subtype)
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal