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Human Disease

hyperimmunoglobulinemia D periodic fever syndrome

Term ID
DOID:0081450
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. https://pubmed.ncbi.nlm.nih.gov/22041426/
References
Ontology
Human Disease   ( DOID:0081450 )
Relationships
is a type of
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Genes Involved
Zebrafish Models