About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory