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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:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      otulipenia 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        peripheral nervous system disease 2125
          neuropathy 1948
            neuromuscular disease 1520
              muscular disease 957
                muscle tissue disease 684
                  myopathy 549
                    myositis 65
                      Polymyositis 34
                        dermatomyositis 29
                          panniculitis 3
                            otulipenia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.