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Summary Literature (0)
DOID:0080163 - otulipenia


Disease Ontology 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.

Synonyms: autoinflammation, panniculitis and dermatosis syndrome, otulin-related autoinflammatory syndrome,

Xenbase Genes : otulin

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014912 - infantile-onset periodic fever-panniculitis-dermatosis syndrome


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), immune system disease (is_a)