OBO ID: DOID:0080163
Term Name: otulipenia Search Ontology:
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
is a type of:
OTHER otulipenia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
OTULIN Autoinflammation, panniculitis, and dermatosis syndrome 617099
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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