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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, aspartylglycosaminuria, GLYCOSYLASPARAGINASE DEFICIENCY, aspartylglucosaminidase deficiency, glycosylasparaginase deficiency
Echinobase Genes
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aga
| MIM:208400 - aspartylglucosaminuria; agu |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
lysosomal storage disease (is_a)