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Metadata
ID	DOID:0081450
Name	hyperimmunoglobulinemia D periodic fever 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. https://pubmed.ncbi.nlm.nih.gov/22041426/
Xrefs	GARD:2788 MIM:260920 ORDO:343
Subsets	DO_rare_slim
Synonyms	HYPER-IgD SYNDROME [EXACT]
Parent Relationships	is_a hyperimmunoglobulin syndrome