| Metadata | |
|---|---|
| ID | DOID:0080163 |
| Name | autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome |
| Definition | An autoinflammation, panniculitis, and dermatosis syndrome characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in homozygous or compound heterozygous loss-of-function mutation in the OTULIN gene on chromosome 5p15. https://www.nih.gov/news-events/news-releases/nih-researchers-discover-otulipenia-new-inflammatory-disease, https://www.ncbi.nlm.nih.gov/pubmed/27559085, https://www.ncbi.nlm.nih.gov/pubmed/27523608 |
| Xrefs |
SNOMEDCT_US_2025_05_01:765435009 |
| SKOS |
exactMatch NCI:C174441 exactMatch MIM:617099 exactMatch UMLS_CUI:C4310614 exactMatch GARD:13198 exactMatch ORDO:500062 |
| Subsets |
DO_rare_slim |
| Synonyms |
autoinflammation, panniculitis and dermatosis syndrome [RELATED] ORAS [EXACT] OTULIN-related autoinflammatory syndrome [EXACT] otulipenia [EXACT] |
| Parent Relationships |
is_a autoinflammation, panniculitis, and dermatosis syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |