Summary Literature (0)

DOID:12804 - mucopolysaccharidosis IV

Disease Ontology Definition:A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain.

Synonyms: MPS IV - Morquio syndrome A, MPS IV - Morquio syndrome B, Morquio A disease, Morquio syndrome A, Mucopolysaccharidosis type IVB, Mucopolysaccharidosis, MPS-IV, Mucopolysaccharidosis, MPS-IV-A (disorder), Osteochondrodystrophy, chondroosteodystrophy, deficiency of N-acetylgalactosamine-6-sulphatase, deficiency of chondroitinsulphatase, galactosamine-6-sulfatase deficiency, mucopolysaccharidosis type IVA,

Echinobase Genes : galns


OMIM:

MIM:253000 - mucopolysaccharidosis, type iva; mps4a

MIM:253010 - mucopolysaccharidosis type ivb

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee