Mucopolysaccharidosis type 9

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.

Also known as MPS9, MPSIX, mucopolysaccharidosis type 9, mucopolysaccharidosis type IX — per MONDO

Also identified as

• DOID 0050809 per MONDO
• ICD9 277.6 per MONDO
• MESH C563209 per MONDO
• NCIT C129073 per MONDO
• OMIM 601492 per MONDO
• Orphanet 67041 per MONDO
• SCTID 124473006 per MONDO
• UMLS C1291490 per MONDO