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Namespace Prefixes

PrefixIRI
n6https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n3http://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
n3:DOID_0050712
rdf:type
owl:Class
rdfs:subClassOf
n3:DOID_0050798 _:vb50937449 n3:DOID_0050737
rdfs:label
AGAT deficiency
wdrs:describedby
n6:doid.owl
obo:id
DOID:0050712
obo:created_by
lschriml
obo:creation_date
2012-05-22T11:53:57Z
obo:hasDbXref
OMIM:612718
obo:hasExactSynonym
arginine:glycine amidinotransferase deficiency CEREBRAL CREATINE DEFICIENCY SYNDROME 3
obo:hasOBONamespace
disease_ontology
n3:IAO_0000115
An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis.
Subject Item
_:vb50937449
rdf:type
owl:Restriction
owl:onProperty
n3:IDO_0000664
owl:someValuesFrom
n3:GENO_0000148
wdrs:describedby
n6:doid.owl