Term Name: hyperimmunoglobulinemia D periodic fever syndrome
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 )

Relationships
is a type of: hyperimmunoglobulin syndrome