|
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:0011871 - Niemann-Pick disease type B |
| MIM:607616 - NIEMANN-PICK DISEASE, TYPE B |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
genetic disease (is_a),
Niemann-Pick disease (is_a)