Hyperimmunoglobulinemia D Periodic Fever Syndrome
Disease ID: disease_node_17337
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:2788, MIM:260920, ORDO:343 |
|---|---|
| Subclassof | DOID_2959 |
| Data Source | DOID |
| Synonyms | HYPER-IgD SYNDROME |
| Doid Label | hyperimmunoglobulinemia D periodic fever syndrome |
| Doid Description | 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. |
| Disease Node Id | disease_node_17337 |
| Doid Id | DOID_0081450 |
| Label | Hyperimmunoglobulinemia D Periodic Fever Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Hyperimmunoglobulin Syndrome(ID:disease_node_17336) (Disease)