Search Ontology:
Human Disease

otulipenia

Term ID
DOID:0080163
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. (4)
References
Ontology
Human Disease   ( DOID:0080163 )
Relationships
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Genes Involved
Zebrafish Models