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)
..Starting node ..tularemia ()
Child Nodes:
........gastrointestinal tularemia ()
........glandular tularemia ()
........oculoglandular tularemia ()
........pneumonic tularemia ()
........typhoidal tularemia ()
........ulceroglandular tularemia ()
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:	18077
Name:	tularemia
Definition:	Tularemia is an infection caused by the bacterium Francisella tularensis . It is more common in rodents and rabbits but has been found in other animals including domestic cats, sheep, birds, and hamsters. Humans can become infected in several different ways: by handling infected animals, through tick or deer fly bites, by drinking contaminated water, or by inhaling contaminated dust or aerosols. Person-to-person transmission has not been reported. The type of tularemia and the particular signs and symptoms vary depending on how the bacteria enter the body. However, fever is seen in most cases. Though tularemia can be life-threatening, most infections can be treated with antibiotics.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Deerfly fever; Francisella tularensis caused disease or disorder; Francisella tularensis disease or disorder; Francisella tularensis infection; Francisella tularensis infectious disease; lemming fever; Ohara disease; Pahvant Valley plague; rabbit fever; Yatobyo (Japan)
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal