This HTML5 document contains 17 embedded RDF statements represented using HTML+Microdata notation.

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Namespace Prefixes

PrefixIRI
n7https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
rdfshttp://www.w3.org/2000/01/rdf-schema#
obohttp://www.geneontology.org/formats/oboInOwl#
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_0111453
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050737 n2:DOID_9252 _:vb50944839
rdfs:label
2-aminoadipic 2-oxoadipic aciduria
wdrs:describedby
n7:doid.owl
obo:id
DOID:0111453
obo:hasDbXref
OMIM:204750 ORDO:79154
obo:hasExactSynonym
AMOXAD alpha-aminoadipic aciduria
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has _material_basis_in homozygous or compound heterozygous mutation in DHTKD1 on chromosome 10p14.
Subject Item
_:vb50944839
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n7:doid.owl