Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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
OMIM
PMID:27523608, PMID:27559085 NCBI chr 2:80,267,724...80,293,204
Ensembl chr 2:80,269,587...80,293,181
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      otulipenia 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        peripheral nervous system disease 2476
          neuropathy 2297
            neuromuscular disease 1778
              muscular disease 1201
                muscle tissue disease 813
                  myopathy 670
                    myositis 78
                      polymyositis 40
                        dermatomyositis 35
                          panniculitis 10
                            otulipenia 1
paths to the root

NHLBI Logo

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