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Disease Ontology Browser
Niemann-Pick disease type C2 (DOID:0070114)
Alliance: disease page
Synonyms: NPC2
Alt IDs: OMIM:607625, ICD10CM:E75.2
Definition: A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3.

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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11/12/2024
MGI 6.24 		The Jackson Laboratory