mucolipidosis type II
Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.
MONDO:0100122
GNPTAB-mucolipidosis
is_a
MONDO:0800088
lysosomal storage disease with skeletal involvement
is_a
GNPTA
related
I Cell Disease
exact
I cell disease
related
I-cell disease
exact
Leroy disease
related
ML 2
related
ML disorder type 2
related
N-acetylglucosamine 1-phosphotransferase deficiency
exact
N-acetylglucosamine 1phosphotransferase deficiency
related
inclusion cell disease
related
mucolipidosis type II
exact
mucolipidosis type II alpha/beta
exact