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Summary Literature (0)
DOID:0070113 - Niemann-Pick disease type C1

Disease Ontology Definition:A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2.

Synonyms: NPC1,

Xenbase Genes : npc1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009757 - Niemann-Pick disease, type C1


Other Model Organisms: Alliance, 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)