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: mycobacterial infectious disease (MONDO:0020590)
Parent Node: primary bacterial infectious disease (MONDO:0000314)
..Starting node ..Buruli ulcer disease ()
Child Nodes:
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:	327
Name:	Buruli ulcer disease
Definition:	A cutaneous infection caused by Mycobacterium ulcerans. It presents with painless nodular swelling of the skin, leading to the formation of necrotizing ulcers.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Bairnsdale ulcer; Buruli ulcer; Daintree ulcer; Mossman ulcer; Mycobacterium ulcerans caused disease or disorder; Mycobacterium ulcerans disease or disorder; Mycobacterium ulcerans infectious disease; Searl ulcer; Searle's ulcer
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal