Term Name: | hyperimmunoglobulinemia D periodic fever syndrome |
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Synonyms: | HYPER-IgD SYNDROME |
Definition: | A hyperimmunoglobulin syndrome that is characterized as periodic fever from early infancy accompanied by elevated serum C-reactive protein and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding mevalonate kinase (MVK) on chromosome 12q24. |
Ontology: | Human Disease [DOID:0081450] ( DOID:0081450 ) |