Term Name: Niemann-Pick disease type B
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.
Ontology: Human Disease [DOID:0070112]   ( DOID:0070112 )

Relationships
is a type of: Niemann-Pick disease