"MESH:D054880"^^ . "SNOMEDCT_US_2021_09_01:54954004"^^ . "NCI:C61273"^^ . . _:vb50936869 . "aspartylglucosaminidase deficiency"@en . "OMIM mapping confirmed by DO. [SN]."^^ . . "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."^^ . _:vb50936869 . "UMLS_CUI:C0268225"^^ . . "OMIM:208400"^^ . _:vb50936869 . _:vb50936869 . _:vb50936869 . "GARD:5854"^^ . "glycosylasparaginase deficiency"@en . "DOID:0050461"^^ . "aspartylglycosaminuria"@en . "ICD10CM:E77.1"^^ . "aspartylglucosaminuria"^^ . "MESH:D054880"^^ . "disease_ontology"^^ . .