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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:smallpox
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Accession:DOID:8736 term browser browse the term
Definition:A viral infectious disease that results in infection located in skin, has_material_basis_in Variola virus, which is transmitted by droplets from oral, nasal or pharyngeal mucosa, transmitted by contact with the body fluids, or transmitted by fomites. The infection results in formation of lesions, first on the face, hands and forearms and later on the trunk. (DO)
Synonyms:exact_synonym: ordinary smallpox;   variola;   variolas
 primary_id: MESH:D012899
 xref: GARD:7444;   ICD10CM:B03;   ICD9CM:050;   NCI:C35027
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
smallpox term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf1 interferon regulatory factor 1 treatment ISO DNA:SNPs,haplotype: :rs839, rs9282763(human) RGD PMID:18454680 RGD:42722608 NCBI chr10:37,917,155...37,924,166
Ensembl chr10:37,916,670...37,924,166 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase treatment ISO DNA:SNP:exon:rs1801133(human) RGD PMID:18454680 RGD:42722608 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    disease by infectious agent 2253
      viral infectious disease 1717
        Viral Skin Diseases 174
          smallpox 2
            variola major 0
            variola minor 0
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      nervous system disease 14334
        Neurologic Manifestations 10419
          sensory system disease 7329
            skin disease 4309
              Infectious Skin Diseases 305
                Viral Skin Diseases 174
                  smallpox 2
                    variola major 0
                    variola minor 0
paths to the root