FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term hyperimmunoglobulinemia D periodic fever syndrome ID (Ontology) DOID:0081450 (Human Disease)
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.
Also Known As "HYPER-IgD SYNDROME"
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 hyperimmunoglobulinemia D periodic fever syndrome       1
 for disease ribbon | hyperimmunoglobulinemia D periodic fever syndrome       1
 model of | hyperimmunoglobulinemia D periodic fever syndrome       1
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  B cell deficiency
   |__hyperimmunoglobulin syndrome
       |__hyperimmunoglobulinemia D periodic fever syndrome  1 rec.
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Synonyms
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Secondary IDs
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GARD:2788
MIM:260920
ORDO:343