Version: 8.0.0
Date: Tue Jan 28 2025
mucopolysaccharidosis IVA
DOID:0111391
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

mucopolysaccharidosis IVA

Definition
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
  • GALNS deficiency
  • Morquio A disease
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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