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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#
n8http://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_0050884
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_4194
rdfs:label
triosephosphate isomerase deficiency
wdrs:describedby
n7:doid.owl
obo:id
DOID:0050884
obo:created_by
lschriml
obo:creation_date
2014-08-07T11:44:31Z
obo:hasDbXref
OMIM:615512 GARD:5287
obo:hasExactSynonym
Triose phosphate-isomerase deficiency
obo:hasOBONamespace
disease_ontology
obo:inSubset
n8:DO_FlyBase_slim
n2:IAO_0000115
A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait.