Visualize Submit Comment

Metadata
ID	DOID:0061169
Name	autosomal dominant autoinflammation, panniculitis, and dermatosis syndrome
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. https://pubmed.ncbi.nlm.nih.gov/38630025/, https://pubmed.ncbi.nlm.nih.gov/38652464/
Xrefs	MIM:621030
SKOS	exactMatch MIM:621030
Subsets	DO_rare_slim
Parent Relationships	is_a autoinflammation, panniculitis, and dermatosis syndrome is_a autosomal dominant disease
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance