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.