Term Name: mucopolysaccharidosis IVA
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 )

Relationships
is a type of: autosomal recessive disease mucopolysaccharidosis IV