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Niemann-Pick disease type C2

Summary
Synonym
  • NPC2
Definition
A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3.
Super Class
Niemann-Pick disease
External Links
Disease Ontology
DOID:0070114
Mondo Disease Ontology
OMIM
GARD
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Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2629 GBA1 glucosylceramidase beta 1
Related Glycoprotein
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024