Mucopolysaccharidosis Type IX
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.
C129073
C4017061
Cellosaurus
Disease or Syndrome
Hyaluronidase Deficiency
MPS9
Mucopolysaccharidosis Type IX
Mucopolysaccharidosis Type IX
Cellosaurus Disease Terminology
Cellosaurus Terminology
Mucopolysaccharidosis