Phosphomevalonate kinase deficiency

Synonym(s)
- Porokeratosis type 1
Type

Disease
External link(s)
- IEMbase
Gene
- PMVK / Phosphomevalonate Kinase
  1q21.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phosphomevalonate kinase
Disease group(s)
- 14.7.1 Disorders of sterol biosynthesis