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DOID:0111391 - mucopolysaccharidosis IVA
Disease Ontology 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, MPS IVA, MPS4A, Morquio A disease, Morquio syndrome A,
Xenbase Genes : galns
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee