mucopolysaccharidosis type 3B
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.
MONDO:0018937
mucopolysaccharidosis type 3
is_a
MONDO:0800088
lysosomal storage disease with skeletal involvement
is_a
MPS III B
exact
MPS IIIB
related
MPS3B
exact
MPSIIIB
exact
Mucopoly-saccharidosis type 3B
related
N-acetyl-alpha-glucosaminidase deficiency
exact
Sanfilippo B
exact
Sanfilippo syndrome B
exact
Sanfilippo syndrome type B
exact
mucopolysaccharidosis type 3B
exact
mucopolysaccharidosis type IIIB
exact
mucopolysaccharidosis, type IIIB
related