autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome

Term ID

DOID:0080163

Synonyms

• autoinflammation, panniculitis and dermatosis syndrome
• ORAS
• OTULIN-related autoinflammatory syndrome
• otulipenia

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. (3)

References

• GARD:13198
• MIM:617099
• NCI:C174441
• ORDO:500062
• SNOMEDCT_US_2025_05_01:765435009
• UMLS_CUI:C4310614

Ontology

Human Disease   ( DOID:0080163 )