Niemann-Pick disease, type C1
Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.
MONDO:0018982
Niemann-Pick disease type C
is_a
NPC1
related
Niemann-Pick disease type C1
related
Niemann-Pick disease, type C1
exact
type C1 Niemann-Pick disease
exact