Niemann-Pick disease
A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell.
MONDO:0015531
non-Langerhans cell histiocytosis
is_a
MONDO:0019255
sphingolipidosis
is_a
Niemann-Pick disease with cholesterol esterification block
exact
Niemann-Pick disease, subacute juvenile form
exact
lipoid histiocytosis (classical phosphatide)
exact
sphingomyelin/cholesterol lipidosis
exact
type A Niemann-Pick disease
narrow
SPAPB8E5.04c SPBC713.07c