DOID:13268

• Ontology
• Class
  • owl:Thing
    • host health status
      • disease
        • additional diseases by category
          • disease of metabolism
            • inherited metabolic disorder
              • porphyria
                • acute porphyria (1)
          • genetic disease
            • inherited metabolic disorder
              • porphyria
• Annotation Property
• Data Property
• Object Property
• Individual
• Datatype

• label
  • porphyria ^xsd:string
• definition
  • An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. ^xsd:string
    • dce:type
      • obo:ECO_0007638
    • oio:hasDbXref
      • url:http://en.wikipedia.org/wiki/Porphyria#Subtypes ^xsd:string
• has exact synonym
  • Porphyrinopathy ^@en
  • disorder of porphyrin and hem metabolism ^@en
  • disorder of porphyrin metabolism ^@en
  • Hematoporphyria ^@en
• has_obo_namespace
  • disease_ontology ^xsd:string
• id
  • DOID:13268 ^xsd:string
• in_subset
  • obo:doid#DO_rare_slim
  • obo:doid#NCIthesaurus
• oio:hasDbXref
  • SNOMEDCT_US_2023_03_01:190912004 ^xsd:string
  • UMLS_CUI:C0032708 ^xsd:string
  • MESH:D011164 ^xsd:string
  • ICD9CM:277.1 ^xsd:string
  • NCI:C97096 ^xsd:string
  • GARD:10353 ^xsd:string
  • ICD10CM:E80.20 ^xsd:string
• rdf:type
  • owl:Class
• rdfs:subClassOf
  • inherited metabolic disorder