Term Name: | autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome |
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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 ) |