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