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Namespace Prefixes

PrefixIRI
n4https://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_0112180
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_9265 _:vb50946236 n2:DOID_0050737
rdfs:label
urocanase deficiency
wdrs:describedby
n4:doid.owl
obo:id
DOID:0112180
obo:hasDbXref
ORDO:210128 MESH:C536479 UMLS_CUI:C0268514 OMIM:276880 SNOMEDCT_US_2021_09_01:60952007 GARD:8539
obo:hasExactSynonym
encephalopathy due to urocanase deficiency urocanic aciduria UROCD urocanate hydratase deficiency high urine urocanic acid levels
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in UROC1 on chromosome 3q21.3.
Subject Item
_:vb50946236
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n4:doid.owl