Human genes for otulipenia
Otulipenia [DOID:0080163]
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.
Synonyms: otulipenia, DOID:0080163, otulipenias, autoinflammation, panniculitis and dermatosis syndrome, otulin-related autoinflammatory syndrome ...