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hyperimmunoglobulinemia D periodic fever syndrome
Summary
- Synonym
-
- 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.
- Super Class
- hyperimmunoglobulin syndrome
External Links
- Disease Ontology
- DOID:0081450
- Mondo Disease Ontology
- ORDO
- GARD
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q03426 | Mevalonate kinase |
