Search Ontology:
Human Disease

Niemann-Pick disease type B

Term ID
DOID:0070112
Synonyms
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. (2)
References
Ontology
Human Disease   ( DOID:0070112 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models