otulipenia

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: otulin

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014912 - infantile-onset periodic fever-panniculitis-dermatosis syndrome

MONDO:0014912 - infantile-onset periodic fever-panniculitis-dermatosis syndrome

MIM:

MIM:617099 - AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME, AUTOSOMAL RECESSIVE; AIPDSB

MIM:617099 - AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME, AUTOSOMAL RECESSIVE; AIPDSB

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)