Term Name: otulipenia
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 )

Relationships
is a type of: autosomal recessive disease immune system disease