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: spotted fever (MONDO:0001195)
..Starting node ..Siberian tick typhus ()
Child Nodes:
Sister Nodes:
..African tick-bite fever ()
..Far eastern spotted fever ()
..Flinders island spotted fever ()
..Japanese spotted fever ()
..pseudotyphus of California ()
..Queensland tick typhus ()
..Rickettsia conorii infectious disease ()
..Rickettsia helvetica spotted fever ()
..Rickettsia parkeri spotted fever ()
..rickettsialpox ()
..Rocky mountain spotted fever ()
..Siberian tick typhus ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1154
Name:	Siberian tick typhus
Definition:	A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Manchurian typhus; North Asian tick fever; North Asian tick fever (disorder) [ambiguous]; North Asian tick typhus; Rickettsia sibirica spotted fever
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal