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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: chondroosteodystrophy, deficiency of chondroitinsulphatase, deficiency of N-acetylgalactosamine-6-sulphatase, galactosamine-6-sulfatase deficiency, Morquio A disease, Morquio syndrome A, MPS IV - Morquio syndrome A, MPS IV - Morquio syndrome B, mucopolysaccharidosis type IVA, Mucopolysaccharidosis type IVB, Mucopolysaccharidosis, MPS-IV, Mucopolysaccharidosis, MPS-IV-A (disorder), Osteochondrodystrophy
Echinobase Genes
:
galns
| MIM:253000 - mucopolysaccharidosis, type iva; mps4a |
| MIM:253010 - mucopolysaccharidosis type ivb |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
mucopolysaccharidosis (is_a)