mucopolysaccharidosis IV

Term ID

DOID:12804

Synonyms

• chondroosteodystrophy
• deficiency of chondroitinsulphatase
• deficiency of N-acetylgalactosamine-6-sulphatase
• galactosamine-6-sulfatase deficiency
• Morquio A disease
• Morquio syndrome A
• Mucopolysaccharidosis, MPS-IV
• Osteochondrodystrophy

Definition

A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain. http://en.wikipedia.org/wiki/Morquio_syndrome

References

• ICD10CM:E76.219
• MESH:D009085
• NCI:C61263
• SNOMEDCT_US_2023_03_01:378007
• UMLS_CUI:C0026707

Ontology

Human Disease   ( DOID:12804 )