Disease-gene associations mined from literature

Human genes for Niemann-Pick disease type A

Niemann-Pick disease type A [DOID:0070111]

A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of SMPD1 on chromosome 11p15.4.

Synonyms:  Niemann-Pick disease type A,  DOID:0070111,  NiemannPick disease type A,  Niemann-Pick disease type As