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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:proteosome-associated autoinflammatory syndrome 3
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Accession:DOID:0060916 term browser browse the term
Definition:An autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. (OMIM)
Synonyms:exact_synonym: PRAAS3;   proteosome-associated autoinflammatory syndrome 3, digenic
 primary_id: OMIM:617591
 alt_id: DOID:9009202


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proteosome-associated autoinflammatory syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmb4 proteasome 20S subunit beta 4 ISO OMIM NCBI chr 2:182,442,757...182,445,532
Ensembl chr 2:182,442,756...182,445,746 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    syndrome 10887
      proteosome-associated autoinflammatory syndrome 163
        proteosome-associated autoinflammatory syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        Neurologic Manifestations 10102
          sensory system disease 7022
            skin disease 4047
              Metabolic Skin Diseases 200
                lipodystrophy 200
                  proteosome-associated autoinflammatory syndrome 163
                    proteosome-associated autoinflammatory syndrome 3 1
paths to the root