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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: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;   NCI:C174441
For additional species annotation, visit the Alliance of Genome Resources.


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otulipenia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME
ClinVar Annotator: match by term: Autoinflammation, panniculitis, and dermatosis syndrome
ClinVar
OMIM
PMID:25741868 PMID:27523608 PMID:27559085 NCBI chr 2:78,290,437...78,316,633
Ensembl chr 2:78,290,959...78,316,422
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      otulipenia 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        peripheral nervous system disease 2533
          neuropathy 2330
            neuromuscular disease 1835
              muscular disease 1236
                muscle tissue disease 827
                  myopathy 661
                    myositis 77
                      polymyositis 40
                        dermatomyositis 35
                          panniculitis 10
                            otulipenia 1
paths to the root