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otulipenia
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease immune system disease
External Links
- Disease Ontology
- DOID:0080163
- Mondo Disease Ontology
- OMIM
- GARD
