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Disease Ontology Browser
mucopolysaccharidosis IVA (DOID:0111391)
Alliance: disease page
Synonyms: GALNS deficiency; Morquio A disease; Morquio syndrome A; MPS4A; MPS IVA
Alt IDs: OMIM:253000, ICD10CM:E76.210, MESH:D009085, NCI:C84901, ORDO:309297, UMLS_CUI:C0086651
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory