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MP Term : aspartylglucosaminuria [MP:0011516] Mammalian Phenotype
Namespace  MPheno.ontology Obsolete  false
description  high urinary levels of aspartylglucosamine, a derivative of aspartic acid; caused by deficient activity of the enzyme N-aspartyl-beta-glucosaminidase (aspartylglucosaminidase) which normally cleaves long sugar chains known as oligosaccharides in the lysosome
  • synonyms:
  • AGU,
  • aspartylglycosaminuria
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