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AUTOINFLAMMATION WITH ARTHRITIS AND VASCULITIS - Ontology Report - Rat Genome Database

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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:AUTOINFLAMMATION WITH ARTHRITIS AND VASCULITIS
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Accession:DOID:9009137 term browser browse the term
Definition:This disease is an autosomal recessive complex immunologic disorder with onset of symptoms in infancy or early childhood. Affected individuals have recurrent fever, erythematous skin rashes, vasculitis, oral aphthous lesions, and polyarthritis.
Synonyms:exact_synonym: AIARV
 primary_id: MIM:620880

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AUTOINFLAMMATION WITH ARTHRITIS AND VASCULITIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbk1 TANK-binding kinase 1 susceptibility ISO ClinVar Annotator: match by term: Autoinflammation with arthritis and vasculitis ClinVar
OMIM		 PMID:25803835 PMID:26476236 PMID:26581300 PMID:28492532 PMID:32447396 More... NCBI chr 7:58,963,319...58,996,357
Ensembl chr 7:57,077,830...57,110,892 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    sensory system disease 7373
      skin disease 4308
        Genetic Skin Diseases 1869
          Hereditary Autoinflammatory Diseases 364
            AUTOINFLAMMATION WITH ARTHRITIS AND VASCULITIS 1
Path 2
Term Annotations click to browse term
  disease 19143
    Pathological Conditions, Signs and Symptoms 13623
      Signs and Symptoms 11219
        Neurologic Manifestations 10461
          sensory system disease 7373
            skin disease 4308
              Genetic Skin Diseases 1869
                Hereditary Autoinflammatory Diseases 364
                  AUTOINFLAMMATION WITH ARTHRITIS AND VASCULITIS 1
paths to the root