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Term:
hyperimmunoglobulinemia D periodic fever syndrome (DOID:0081450)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2) Naked Mole-rat: (2) Green Monkey: (2)
Parent Terms Term With Siblings Child Terms
CD40 ligand deficiency +   
hyper IgE syndrome +   
hyper IgM syndrome +   
hyperimmunoglobulinemia D periodic fever syndrome  
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. (DO)

Synonyms
Exact Synonyms: hyper IgD syndrome ;   hyper IgD syndromes ;   hyperimmunoglobulinemia D ;   hyperimmunoglobulinemia D and periodic fever syndrome ;   periodic fever, Dutch type
Xrefs: GARD:2788 ;   MIM:260920 ;   MONDO:0009849 ;   ORDO:343
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/22041426/ "DO" "DO"

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