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| Term | autoinflammation, panniculitis, and dermatosis syndrome | ID (Ontology) | DOID:0061170 (Human Disease) |
| Definition | An autoinflammatory disease characterized by neonatal or infantile onset of systemic inflammation, fever, panniculitis, aseptic skin lesions, leukocytosis, neutrophilia, and elevated inflammatory markers, including C-reactive protein, with no overt primary immunodeficiency that has_material_basis_in mutation in the OTULIN gene on chromosome 5p15, that encodes a deubiquitinase with linear linkage specificity. | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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primary immunodeficiency disease |__autoinflammatory disease |__autoinflammation, panniculitis, and dermatosis syndrome |__autosomal dominant autoinflammation, panniculitis, and dermatosis syndrome |__autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome |
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| Is a | autoinflammatory disease | ||
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External Crossreferences & Linkouts
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| MIM:PS617099 | |||