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ONTOLOGY REPORT - ANNOTATIONS


Term:otulipenia
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Accession:DOID:0080163 term browser browse the term
Definition:An autosomal recessive autoinflammatory disease characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. (OMIM)
Synonyms:exact_synonym: AIPDS;   ORAS;   OTULIN-RELATED AUTOINFLAMMATORY SYNDROME;   autoinflammation, panniculitis, and dermatosis syndrome
 related_synonym: OTULIN-AUTOINFLAMMATORY SYNDROME
 primary_id: OMIM:617099
 alt_id: RDO:9001352
 xref: GARD:13198
For additional species annotation, visit the Alliance of Genome Resources.


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otulipenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Otulin OTU deubiquitinase with linear linkage specificity JBrowse link 2 80,267,724 80,293,204 RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14334
    syndrome 4634
      otulipenia 1
Path 2
Term Annotations click to browse term
  disease 14334
    disease of anatomical entity 13522
      nervous system disease 8600
        peripheral nervous system disease 1984
          neuropathy 1810
            neuromuscular disease 1396
              muscular disease 891
                muscle tissue disease 626
                  myopathy 520
                    myositis 67
                      Polymyositis 33
                        dermatomyositis 28
                          panniculitis 2
                            otulipenia 1
paths to the root