| Metadata | |
|---|---|
| ID | DOID:0080163 |
| Name | otulipenia |
| Definition | An immune system disease that is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in autosomal recessive inheritance of homozygous loss-of-function mutations in the OTULIN gene encoding a deubiquitinase with linear linkage specificity on chromosome 5p15. http://www.omim.org/entry/617099?search=617099&highlight=617099, https://www.ncbi.nlm.nih.gov/pubmed/27523608, https://www.ncbi.nlm.nih.gov/pubmed/27559085, https://www.nih.gov/news-events/news-releases/nih-researchers-discover-otulipenia-new-inflammatory-disease |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autoinflammation, panniculitis and dermatosis syndrome [EXACT] otulin-related autoinflammatory syndrome [EXACT] |
| Parent Relationships |