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DO Term : aspartylglucosaminuria [DOID:0050461] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • glycosylasparaginase deficiency,
  • GARD:5854,
  • ICD10CM:E77.1,
  • aspartylglycosaminuria,
  • 208400,
  • MESH:D054880,
  • OMIM:208400,
  • SNOMEDCT_US_2023_03_01:54954004,
  • aspartylglucosaminidase deficiency,
  • NCI:C61273,
  • UMLS_CUI:C0268225
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Ontology Term --> Direct children

Ontology Term --> Direct parents