Term Name: | mucopolysaccharidosis IVA |
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Synonyms: | GALNS deficiency, MPS IVA, MPS4A |
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. |
Ontology: | Human Disease [DOID:0111391] ( DOID:0111391 ) |