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Summary Literature (0)
DOID:0050461 - aspartylglucosaminuria

Disease Ontology Definition:A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins.

Synonyms: ASPARTYLGLUCOSAMINIDASE DEFICIENCY, GLYCOSYLASPARAGINASE DEFICIENCY, aspartylglucosaminidase deficiency, aspartylglycosaminuria, glycosylasparaginase deficiency,

Xenbase Genes : aga

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008830 - aspartylglucosaminuria


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): genetic disease (is_a), lysosomal storage disease (is_a)