Term Name: autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome
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.
Ontology: Human Disease [DOID:0080163]   ( DOID:0080163 )

Relationships
is a type of: autoinflammation, panniculitis, and dermatosis syndrome autosomal recessive disease