autoinflammation, panniculitis and dermatosis syndromeotulin-related autoinflammatory syndrome
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
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.