Niemann-Pick disease type A
Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.
MONDO:0005328
eye disorder
is_a
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0100464
acid sphingomyelinase deficiency
is_a
SPBC713.07c