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Summary Literature (0)
DOID:0070114 - Niemann-Pick disease type C2

Disease Ontology Definition:A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3.

Synonyms: NPC2,

Xenbase Genes : npc2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011873 - Niemann-Pick disease, type C2


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Niemann-Pick disease (is_a), genetic disease (is_a)