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: rare form of salmonellosis (MONDO:0019331)
..Starting node ..paratyphoid fever ()
Child Nodes:
Sister Nodes:
..invasive non-typhoidal salmonellosis ()
..paratyphoid fever ()
..typhoid fever ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18626
Name:	paratyphoid fever
Definition:	A condition resembling typhoid fever that is caused by infection by Salmonella enterica serovar Parathyphi.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	paratyphoid; paratyphoid a; paratyphoid A fever; paratyphoid b; paratyphoid B fever; paratyphoid c; paratyphoid C fever; paratyphoid fever A; paratyphoid fever B; paratyphoid fever C
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal