Pycnodysostosis

Synonym(s)
- Cathepsin K deficiency
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- CTSK / Cathepsin K
  1q21.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Cathepsin K
Parent entry
- 20.7 Cathepsin-related disorders