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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#
n5http://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_3651
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_2978 _:vb50952161 _:vb50952162
rdfs:label
pyruvate carboxylase deficiency disease
rdfs:comment
OMIM mapping confirmed by DO. [SN].
wdrs:describedby
n7:doid.owl
obo:id
DOID:3651
obo:hasDbXref
ICD10CM:E74.4 NCI:C85040 UMLS_CUI:C0034341 SNOMEDCT_US_2021_09_01:87694001 MESH:D015324 OMIM:266150
obo:hasExactSynonym
deficiency of pyruvic carboxylase
obo:hasOBONamespace
disease_ontology
obo:inSubset
n5:NCIthesaurus
n2:IAO_0000115
A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis.
Subject Item
_:vb50952161
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0002452
owl:someValuesFrom
n2:SYMP_0000124
wdrs:describedby
n7:doid.owl
Subject Item
_:vb50952162
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0002452
owl:someValuesFrom
n2:SYMP_0000465
wdrs:describedby
n7:doid.owl