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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Buruli ulcer disease
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Accession:DOID:0050456 term browser browse the term
Definition:A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin. (DO)
Synonyms:exact_synonym: BURULI ULCER, SUSCEPTIBILITY TO;   Bairnsdale ulcer;   Buruli Ulcer Diseases;   Buruli ulcer;   Daintree ulcer;   Mossman ulcer;   Mycobacterium ulcerans Infection;   Mycobacterium ulcerans Infections;   Searl ulcer;   Searle's ulcer
 related_synonym: Mycobacterium ulcerans, susceptibility to
 primary_id: MESH:D054312
 alt_id: OMIM:610446
 xref: EFO:1001281;   GARD:9520;   ICD10CM:A31.1;   MONDO:0000327;   NCI:C84604


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Buruli ulcer disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc11a1 solute carrier family 11 member 1 susceptibility ISO ClinVar Annotator: match by term: Buruli ulcer, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:16395392 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6939
      skin disease 3960
        chronic ulcer of skin 44
          Buruli ulcer disease 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease by infectious agent 2214
      Bacterial Infections and Mycoses 1072
        bacterial infectious disease 823
          Gram-Positive Bacterial Infections 394
            Actinomycetales Infections 320
              Mycobacterium Infections 319
                Nontuberculous Mycobacterium Infections 151
                  Buruli ulcer disease 1
paths to the root