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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 15088
    syndrome 4790
      otulipenia 1
Path 2
Term Annotations click to browse term
  disease 15088
    disease of anatomical entity 14316
      nervous system disease 9550
        peripheral nervous system disease 2000
          neuropathy 1824
            neuromuscular disease 1406
              muscular disease 900
                muscle tissue disease 633
                  myopathy 523
                    myositis 69
                      Polymyositis 34
                        dermatomyositis 29
                          panniculitis 3
                            otulipenia 1
paths to the root