Mucopolysaccharidosis Type IX

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - Hyaluronidase Deficiency - MPS9