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About: aspartylglucosaminuria     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

OMIM mapping confirmed by DO. [SN].

AttributesValues
type
subClassOf
label
  • aspartylglucosaminuria
comment
  • OMIM mapping confirmed by DO. [SN].
has exact match
  • MESH:D054880
described by
id
  • DOID:0050461
database_cross_reference
  • GARD:5854
  • ICD10CM:E77.1
  • MESH:D054880
  • NCI:C61273
  • OMIM:208400
  • SNOMEDCT_US_2021_09_01:54954004
  • UMLS_CUI:C0268225
has_exact_synonym
  • aspartylglucosaminidase deficiency (en)
  • aspartylglycosaminuria (en)
  • glycosylasparaginase deficiency (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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