Term Name: Niemann-Pick disease type C2
Synonyms: NPC2
Definition: A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3.
Ontology: Human Disease [DOID:0070114]   ( DOID:0070114 )

Relationships
is a type of: Niemann-Pick disease