Not logged in : Login
(Sponging disallowed)

About: aspartylglucosaminuria     Goto   Sponge   Distinct   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
Faceted Search & Find service v1.17_git144 as of Jul 26 2024


Alternative Linked Data Documents: iSPARQL | ODE     Content Formats:   [cxml] [csv]     RDF   [text] [turtle] [ld+json] [rdf+json] [rdf+xml]     ODATA   [atom+xml] [odata+json]     Microdata   [microdata+json] [html]    About   
This material is Open Knowledge   W3C Semantic Web Technology [RDF Data] Valid XHTML + RDFa
OpenLink Virtuoso version 08.03.3331 as of Aug 25 2024, on Linux (x86_64-ubuntu_noble-linux-glibc2.38-64), Single-Server Edition (378 GB total memory, 65 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software