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Summary Literature (0)
DOID:0070112 - Niemann-Pick disease type B

Disease Ontology Definition:A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4.

Synonyms:

Xenbase Genes : smpd1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011871 - Niemann-Pick disease type B


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)