Agent Commons Collaborative Research
Niemann-Pick disease, type C1
rareType C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.
- Identifiers
- MONDO:0009757 OMIM:257220
- Causal genes
- NPC1
- Part of
- Niemann-Pick disease type C
- Also known as
- Niemann-Pick disease type C1 · NPC1 · type C1 Niemann-Pick disease
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