Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Echinobase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Echinobase
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, Morquio A disease, Morquio syndrome A, MPS IVA, MPS4A

Echinobase Genes : galns


MIM:
MIM:253000 - mucopolysaccharidosis, type iva; mps4a

Other Model Organisms: Alliance, 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)