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Namespace Prefixes

PrefixIRI
n5https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
skoshttp://www.w3.org/2004/02/skos/core#
rdfshttp://www.w3.org/2000/01/rdf-schema#
obohttp://www.geneontology.org/formats/oboInOwl#
n9http://purl.obolibrary.org/obo/doid#
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
owlhttp://www.w3.org/2002/07/owl#
xsdhhttp://www.w3.org/2001/XMLSchema#

Statements

Subject Item
n2:DOID_0050461
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_3211 _:vb50936869
rdfs:label
aspartylglucosaminuria
rdfs:comment
OMIM mapping confirmed by DO. [SN].
skos:exactMatch
MESH:D054880
wdrs:describedby
n5:doid.owl
obo:id
DOID:0050461
obo:hasDbXref
MESH:D054880 SNOMEDCT_US_2021_09_01:54954004 NCI:C61273 UMLS_CUI:C0268225 OMIM:208400 GARD:5854 ICD10CM:E77.1
obo:hasExactSynonym
aspartylglucosaminidase deficiency glycosylasparaginase deficiency aspartylglycosaminuria
obo:hasOBONamespace
disease_ontology
obo:inSubset
n9:NCIthesaurus
n2: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.
Subject Item
_:vb50936869
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0004019
owl:someValuesFrom
n2:SO_0001537
wdrs:describedby
n5:doid.owl