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Summary Literature (0)
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: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), mucopolysaccharidosis IV (is_a)