autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome

Summary

DOID:0080163 - autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome

Disease Ontology Definition:An autoinflammation, panniculitis, and dermatosis syndrome characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in homozygous or compound heterozygous loss-of-function mutation in the OTULIN gene 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 - autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive

MONDO:0014912 - autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive

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

Parent(s): autosomal recessive disease (is_a), immune system disease (is_a)