SPARQL | HTML Microdata document
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Namespace Prefixes
Prefix IRI
n4 https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2 http://purl.obolibrary.org/obo/
wdrs http://www.w3.org/2007/05/powder-s#
rdfs http://www.w3.org/2000/01/rdf-schema#
obo http://www.geneontology.org/formats/oboInOwl#
rdf http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl http://www.w3.org/2002/07/owl#
xsdh http://www.w3.org/2001/XMLSchema#
Statements
Subject Item n2:DOID_0050726
rdf:type
owl:Class
rdfs:subClassOf
_:vb50937475
n2:DOID_9275
rdfs:label
tyrosinemia type I
wdrs:describedby
n4:doid.owl
obo:id
DOID:0050726
obo:created_by
lschriml
obo:creation_date
2012-07-06T02:55:45Z
obo:hasDbXref
OMIM:276700
obo:hasExactSynonym
hepatorenal tyrosinemia
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body.
Subject Item _:vb50937475
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0002200
owl:someValuesFrom
n2:HP_0003231
wdrs:describedby
n4:doid.owl