Search Ontology:
Human Disease
autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome
- Term ID
- DOID:0080163
- Synonyms
-
- autoinflammation, panniculitis and dermatosis syndrome
- ORAS
- OTULIN-related autoinflammatory syndrome
- otulipenia
- 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. (3)
- References
-
- GARD:13198
- MIM:617099
- NCI:C174441
- ORDO:500062
- SNOMEDCT_US_2025_05_01:765435009
- UMLS_CUI:C4310614
- Ontology
- Human Disease ( DOID:0080163 )
Other Pages
Genes Involved
Zebrafish Models