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Disease Ontology Browser
aspartylglucosaminuria (DOID:0050461)
Alliance: disease page
Synonyms: aspartylglucosaminidase deficiency; aspartylglycosaminuria; glycosylasparaginase deficiency
Alt IDs: OMIM:208400, ICD10CM:E77.1, MESH:D054880, NCI:C61273, UMLS_CUI:C0268225
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.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory