• Facets (new session)
• Description
• Metadata
• Settings
  • Rule: ActivityStreamsMapasEquivalentb3sb3sifpdbprdf-labelfacetshttp://dbpedia.org/resource/inference/rules/dbpedia#http://dbpedia.org/resource/inference/rules/opencyc#http://dbpedia.org/resource/inference/rules/umbel#http://dbpedia.org/resource/inference/rules/yago#http://dbpedia.org/schema/property_rules#http://www.ontologyportal.org/inference/rules/SUMO#http://www.ontologyportal.org/inference/rules/WordNet#http://www.w3.org/2002/07/owl#ldpoplwebskos-transurn:det:rdf:labelvirtrdf-labelvirtrdf-urlNone
    
  • Inverse Functional Properties: Disabled (fastest) Apply to subjects only Apply to objects only Apply to both subjects and objects
  • "Same As": Disabled (fastest) Apply to subjects only Apply to objects only Apply to both subjects and objects (recommended) Apply to subjects, objects and predicates (not recommended on big datasets) Apply to predicates only (special use cases only)

About: Pipecolic acidemia     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : umbel-rc:AilmentCondition, within Data Space : dbpedia.demo.openlinksw.com associated with source document(s)

Type: ThingDiseaseyago:WikicatAminoAcidMetabolismDisordersyago:WikicatAutosomalRecessiveDisordersyago:Abstraction100002137yago:Attribute100024264yago:Condition113920835yago:Disease114070360yago:Disorder114052403yago:IllHealth114052046yago:Illness114061805yago:PathologicalState114051917yago:PhysicalCondition114034177diseaseyago:State100024720umbel-rc:AilmentCondition New Facet based on Instances of this Class

Pipecolic acidemia is a very rare autosomal recessive metabolic disorder that is caused by a peroxisomal defect. Pipecolic acidemia can also be an associated component of Refsum disease with increased pipecolic acidemia (RDPA), as well as other peroxisomal disorders, including both infantile and adult Refsum disease, and Zellweger syndrome. The disorder is characterized by an increase in pipecolic acid levels in the blood, leading to neuropathy and hepatomegaly.