Search Ontology:
Human Disease
autosomal dominant autoinflammation, panniculitis, and dermatosis syndrome
- Term ID
- DOID:0061169
- Synonyms
-
- Definition
- An autoinflammation, panniculitis, and dermatosis syndrome characterized by the onset of autoinflammatory features in infancy, including fever, aseptic skin lesions, panniculitis, and poor wound healing that has_material_basis_in heterozygous dominant-negative mutation in the OTULIN gene on chromosome 5p15. (2)
- References
- Ontology
- Human Disease ( DOID:0061169 )
Other Pages
Genes Involved
Zebrafish Models