FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term aspartylglucosaminuria ID (Ontology) DOID:0050461 (Human Disease)
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.
Also Known As "aspartylglucosaminidase deficiency" ; "aspartylglycosaminuria" ; "glycosylasparaginase deficiency"
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 Genes
 aspartylglucosaminuria       3
 for disease ribbon | aspartylglucosaminuria       3
 model of | aspartylglucosaminuria       3
Spanning Tree (Parents/Children)
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  inherited metabolic disorder
   |__lysosomal storage disease
       |__aspartylglucosaminuria  3 rec.
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Is a lysosomal storage disease
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Synonyms
  • "aspartylglucosaminidase deficiency" EXACT
    "aspartylglycosaminuria" EXACT
    "glycosylasparaginase deficiency" EXACT
Secondary IDs
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GARD:5854
ICD10CM:E77.1
MESH:D054880
MIM:208400
NCI:C61273
SNOMEDCT_US_2023_03_01:54954004
UMLS_CUI:C0268225