mucopolysaccharidosis type 9
An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency.
MONDO:0005381
bone disorder
is_a
MONDO:0019249
mucopolysaccharidosis
is_a
MPS9
exact
MPSIX
exact
mucopolysaccharidosis type 9
exact
mucopolysaccharidosis type IX
exact
mucopolysaccharidosis, type IX
related