Niemann-Pick disease, type C1

Definition

Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.

Also known as Niemann-Pick disease, type C1, type C1 Niemann-Pick disease — per MONDO

Also identified as

• DOID 0070113 per MONDO
• NCIT C126864 per MONDO
• OMIM 257220 per MONDO
• SCTID 18927009 per MONDO
• SCTID 67855008 per MONDO
• UMLS C3179455 per MONDO