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Disease Ontology Browser
Niemann-Pick disease type C1 (DOID:0070113)
Alliance: disease page
Synonyms: NPC1
Alt IDs: OMIM:257220, ICD10CM:E75.2
Definition: A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory