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. (DO)
Niemann Pick Disease, Non Neuronopathic Type
;
Niemann Pick disease, adult non neuronopathic
;
Niemann Pick disease, visceral
;
Niemann Pick's disease type B
;
acid sphingomyelinase deficiency, visceral type
;
sphingomyelin/cholesterol lipidosis
Narrow Synonyms:
NIEMANN-PICK DISEASE, INTERMEDIATE, WITH VISCERAL INVOLVEMENT AND RAPID PROGRESSION
;
Niemann Pick's disease type E
;
Niemann-Pick disease, type E
;
Niemann-Pick disease, type F