mucopolysaccharidosis
A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.
MONDO:0002561
lysosomal storage disease
is_a
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0019214
inborn carbohydrate metabolic disorder
is_a
MONDO:0100365
mucopolysaccharidosis or mucopolysaccharidosis-like disorder
is_a
MPS
related
Mucopolysaccharidoses
exact
mucopolysaccharidoses
exact
mucopolysaccharidosis
exact
SPBPB10D8.02c