Niemann-Pick disease type C1

Type

Disease
External link(s)
- IEMbase
Gene
- NPC1 / NPC Intracellular Cholesterol Transporter 1
  18q11.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- NPC Intracellular Cholesterol Transporter 1
Parent entry
- Niemann-Pick disease type C