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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:onchocerciasis
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Accession:DOID:11678 term browser browse the term
Definition:A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy. (DO)
Synonyms:exact_synonym: Onchocerca volvulus infection;   Onchocerciases;   infection by Onchocerca volvulus;   volvulosis
 primary_id: MESH:D009855
 xref: EFO:0007402;   GARD:7252;   ICD10CM:B73;   ICD9CM:125.3;   NCI:C34861
For additional species annotation, visit the Alliance of Genome Resources.


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onchocerciasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO DNA:polymorphisms: :HLA-DQA1*0401, HLA-DQA1*0102,HLA-DQA1*0103; RGD PMID:22117902 RGD:8547660 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797 		JBrowse link
G H2-Pa histocompatibility 2, P region alpha locus ISO RGD PMID:8854084 RGD:6480649 NCBI chr17:34,303,587...34,304,826
Ensembl chr17:34,303,575...34,304,797 		JBrowse link
G Il13 interleukin 13 severity ISO protein:increased expression:serum RGD PMID:22805723 RGD:8549600 NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529 		JBrowse link
Ocular Onchocerciasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1r1 interleukin 1 receptor, type I IMP RGD PMID:19168746 RGD:8662882 NCBI chr 1:40,261,651...40,355,361
Ensembl chr 1:40,264,240...40,356,417 		JBrowse link
G Tlr4 toll-like receptor 4 IMP RGD PMID:11884755 RGD:7794682 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16263
    sensory system disease 7186
      skin disease 4179
        filariasis 7
          onchocerciasis 5
            Ocular Onchocerciasis 2
Path 2
Term Annotations click to browse term
  disease 16263
    Pathological Conditions, Signs and Symptoms 12648
      Signs and Symptoms 10532
        Neurologic Manifestations 10190
          sensory system disease 7186
            skin disease 4179
              Infectious Skin Diseases 291
                Parasitic Skin Diseases 72
                  onchocerciasis 5
                    Ocular Onchocerciasis 2
paths to the root