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Human Disease

autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome

Term ID
DOID:0080163
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. (3)
References
  • GARD:13198
  • MIM:617099
  • NCI:C174441
  • ORDO:500062
  • SNOMEDCT_US_2025_05_01:765435009
  • UMLS_CUI:C4310614
Ontology
Human Disease   ( DOID:0080163 )
Relationships
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Genes Involved
Zebrafish Models