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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.


show annotations for term's descendants           Sort by:
onchocerciasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il13 interleukin 13 severity ISO protein:increased expression:serum RGD PMID:22805723 RGD:8549600 NCBI chr10:38,290,926...38,293,483
Ensembl chr10:38,290,926...38,293,483 		JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms: :HLA-DQA1*0401, HLA-DQA1*0102,HLA-DQA1*0103; RGD PMID:22117902 RGD:8547660 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653 		JBrowse link
G RT1-Ha RT1 class II, locus Ha ISO RGD PMID:8854084 RGD:6480649 NCBI chr20:4,762,425...4,772,439
Ensembl chr20:4,763,033...4,772,141 		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 1 ISO RGD PMID:19168746 RGD:8662882 NCBI chr 9:50,000,558...50,076,579
Ensembl chr 9:50,000,566...50,076,579 		JBrowse link
G Tlr4 toll-like receptor 4 ISO RGD PMID:11884755 RGD:7794682 NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    sensory system disease 7403
      skin disease 4342
        filariasis 7
          onchocerciasis 5
            Ocular Onchocerciasis 2
Path 2
Term Annotations click to browse term
  disease 19150
    Pathological Conditions, Signs and Symptoms 13670
      Signs and Symptoms 11240
        Neurologic Manifestations 10485
          sensory system disease 7403
            skin disease 4342
              Infectious Skin Diseases 307
                Parasitic Skin Diseases 71
                  onchocerciasis 5
                    Ocular Onchocerciasis 2
paths to the root