Term Name: | autosomal dominant autoinflammation, panniculitis, and dermatosis syndrome |
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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. |
Ontology: | Human Disease [DOID:0061169] ( DOID:0061169 ) |