Search Ontology:
Human Disease
otulipenia
- Term ID
- DOID:0080163
- 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. (4)
- References
-
- GARD:13198
- MIM:617099
- Ontology
- Human Disease ( DOID:0080163 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models