OBO ID: DOID:12804
Term Name: mucopolysaccharidosis IV Search Ontology:
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 )
Relationships
is a type of:
has subtype:
OTHER mucopolysaccharidosis IV PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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