Term Name: | otulipenia |
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Synonyms: | autoinflammation, panniculitis and dermatosis syndrome, otulin-related autoinflammatory syndrome |
Definition: | 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. |
Ontology: | Human Disease [DOID:0080163] ( DOID:0080163 ) |