Niemann-Pick disease type B

Summary

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:

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: smpd1

OMIM:

MIM:607616 - niemann-pick disease, type b niemann-pick disease, type e, included;; niemann-pick disease, type f, included;; niemann-pick disease, intermediate, with visceral involvement and rapid progression, included

MIM:607616 - niemann-pick disease, type b niemann-pick disease, type e, included;; niemann-pick disease, type f, included;; niemann-pick disease, intermediate, with visceral involvement and rapid progression, included

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)