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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, GLYCOSYLASPARAGINASE DEFICIENCY, aspartylglucosaminidase deficiency, aspartylglycosaminuria, glycosylasparaginase deficiency,
Xenbase Genes
![Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries](img/icons/info1.png)
MONDO:0008830 - aspartylglucosaminuria |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee