Niemann-Pick disease, type C2 (Q50349679)
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A Niemann-Pick disease that has material basis in an autosomal recessive mutation of NPC2 on chromosome 14q24.3.
- NPC2
- NIEMANN-PICK DISEASE, TYPE C2
- Niemann-Pick disease type C2
- Type C2 Niemann-Pick Disease
- NIEMANN-PICK DISEASE, TYPE C2; NPC2
Language | Label | Description | Also known as |
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English | Niemann-Pick disease, type C2 |
A Niemann-Pick disease that has material basis in an autosomal recessive mutation of NPC2 on chromosome 14q24.3. |
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Statements
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C126865
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Identifiers
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