autoinflammatory disease, X-linked
An autoinflammatory syndrome characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy.
MONDO:0019751
autoinflammatory syndrome
is_a
MONDO:0023603
hereditary disorder of connective tissue
is_a
NEMO deleted exon 5 syndrome
exact
autoinflammatory syndrome, X-linked
exact