Term Name: Niemann-Pick disease type A
Synonyms:
Definition: A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4.
Ontology: Human Disease [DOID:0070111]   ( DOID:0070111 )

Relationships
is a type of: Niemann-Pick disease