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DO Term : mucopolysaccharidosis IVA [DOID:0111391] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the GALNS gene on chromosome 16q24.3.
  • synonyms:
  • ORDO:309297,
  • MESH:D009085,
  • GARD:3785,
  • GALNS deficiency,
  • MPS IVA,
  • Morquio syndrome A,
  • 253000,
  • MPS4A,
  • UMLS_CUI:C0086651,
  • OMIM:253000,
  • ICD10CM:E76.210,
  • SNOMEDCT_US_2023_03_01:7259005,
  • NCI:C84901,
  • Morquio A disease
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