mucopolysaccharidosis type 4B
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature.
MONDO:0018938
mucopolysaccharidosis type 4
is_a
MONDO:0800088
lysosomal storage disease with skeletal involvement
is_a
Beta-D-galactosidase deficiency
exact
MPS 4B
exact
MPS IV B
exact
MPS IVB
related
MPS4B
exact
MPSIVB
exact
Morquio disease type B
exact
Morquio syndrome B
exact
mucopolysaccharidosis type IVB
exact