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Namespace Prefixes

PrefixIRI
rdfshttp://www.w3.org/2000/01/rdf-schema#
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
owlhttp://www.w3.org/2002/07/owl#
ncihttp://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
xsdhhttp://www.w3.org/2001/XMLSchema#

Statements

Subject Item
nci:C99015
rdf:type
owl:Class
rdfs:label
Phosphoenolpyruvate Carboxykinase Deficiency
rdfs:subClassOf
nci:C53543 nci:C97089
nci:A11
nci:C3492 nci:C85866
nci:A8
nci:C99147 nci:C89505
nci:P106
Disease or Syndrome
nci:P108
Phosphoenolpyruvate Carboxykinase Deficiency
nci:P207
C0268194
nci:P322
NICHD
nci:P90
<n0:ComplexTerm xmlns:n0="http://ncicb.nci.nih.gov/xml/owl/EVS/ComplexProperties.xsd#"><n0:term-name>Phosphoenolpyruvate Carboxykinase (GTP) Deficiency</n0:term-name><n0:term-group>PT</n0:term-group><n0:term-source>NICHD</n0:term-source></n0:ComplexTerm> <n0:ComplexTerm xmlns:n0="http://ncicb.nci.nih.gov/xml/owl/EVS/ComplexProperties.xsd#"><n0:term-name>Phosphoenolpyruvate Carboxykinase Deficiency</n0:term-name><n0:term-group>PT</n0:term-group><n0:term-source>NCI</n0:term-source></n0:ComplexTerm>
nci:P97
<n0:ComplexDefinition xmlns:n0="http://ncicb.nci.nih.gov/xml/owl/EVS/ComplexProperties.xsd#"><n0:def-definition>A very rare, autosomal recessive inherited disorder caused by deficiency of the enzyme phosphoenolpyruvate carboxykinase, which is involved in gluconeogenesis. It presents with hypoglycemia, failure to thrive, metabolic acidosis, muscle weakness, and hepatomegaly.</n0:def-definition><n0:def-source>NCI</n0:def-source></n0:ComplexDefinition>
nci:code
C99015