lipase deficiency, combined
A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0018637
familial chylomicronemia syndrome
is_a
combined lipase deficiency
exact
familial lipase maturation factor 1 deficiency
exact
lipase deficiency combined
related
lipase deficiency, combined
exact