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MAMMALIAN PHENOTYPE - ANNOTATIONS

The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term:aspartylglucosaminuria
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Accession:MP:0011516 term browser browse the term
Definition: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:exact_synonym: AGU;   aspartylglycosaminuria


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  mammalian phenotype 5422
    homeostasis/metabolism phenotype 1426
      abnormal homeostasis 1327
        abnormal urine homeostasis 380
          aciduria 3
            aminoaciduria 0
              aspartylglucosaminuria 0
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