ONTOLOGY REPORT - ANNOTATIONS


Term:PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3
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Accession:DOID:9009202 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;   PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3, DIGENIC
 primary_id: OMIM:617591
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PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psmb4 proteasome subunit beta 4 JBrowse link 2 196,043,546 196,046,320 RGD:8554872
RGD:7240710
G Psmb9 proteasome subunit beta 9 JBrowse link 20 3,973,424 3,978,845 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          Hereditary Autoinflammatory Diseases 97
            PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 2
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          skin disease 2253
            Genetic Skin Diseases 580
              Hereditary Autoinflammatory Diseases 97
                PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.