mucopolysaccharidosis type 6
Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.
MONDO:0002254
syndromic disease
is_a
MONDO:0005328
eye disorder
is_a
MONDO:0019249
mucopolysaccharidosis
is_a
MONDO:0800088
lysosomal storage disease with skeletal involvement
is_a
ARSB deficiency
exact
ASB deficiency
exact
MPS VI
related
MPS6
exact
MPSVI
exact
Maroteaux Lamy Syndrome
exact
Maroteaux Lamy syndrome
related
Maroteaux-Lamy disease
exact
Maroteaux-Lamy syndrome
exact
Mucopoly-saccharidosis type VI
related
N-acetylgalactosamine 4-sulfatase deficiency
exact
arylsulfatase B deficiency
exact
mucopolysaccharidosis type VI
exact
mucopolysaccharidosis type VI (Maroteaux-Lamy)
exact
SPBPB10D8.02c