Niemann-Pick disease, type C1 (Q50349678)
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Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein
- NPC1
- Niemann-Pick Disease, Nova Scotian Type
- Niemann-Pick Disease, Subacute Juvenile Form
- Niemann-Pick Disease, Type D
- Niemann-Pick Disease With Cholesterol Esterification Block
- Niemann-Pick Disease Without Sphingomyelinase Deficiency
- NIEMANN-PICK DISEASE, TYPE C1
- Niemann-Pick Disease, Chronic Neuronopathic Form
- Niemann-Pick Disease, Type C
- NIEMANN-PICK DISEASE, TYPE C1; NPC1
- Type C1 Niemann-Pick Disease
- Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Niemann-Pick disease, type C1 |
Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein |
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C126864
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