PedAM
Pediatric Disease Annotations & Medicines
| Disease | mevalonic aciduria |
| Phenotype | C0035021|recurrent fever |
| Sentences | 1 |
| PubMedID- 24470648 | Mevalonate kinase deficiency (mkd) is a rare autosomal recessive disorder causing 1 of 2 phenotypes, hyperimmunoglobulin d syndrome and mevalonic aciduria, presenting with recurrent fever episodes, often starting in infancy, and sometimes evoked by stress or vaccinations. |
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