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Echinobase
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 NPC1 on chromosome 18q11.2.

Synonyms: NPC1,

Echinobase Genes : npc1


OMIM:
MIM:257220 - niemann-pick disease, type c1; npc1

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)