Niemann-Pick disease type B
Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0017014
interstitial lung disease specific to childhood
is_a
MONDO:0020127
hereditary peripheral neuropathy
is_a
MONDO:0031199
inherited interstitial lung disease
is_a
MONDO:0100464
acid sphingomyelinase deficiency
is_a
Niemann Pick disease type B
related
type B Niemann-Pick disease
exact
SPBC713.07c