DOID:655

• Ontology
• Class
  • owl:Thing
    • host health status
      • disease
        • additional diseases by category
          • disease of metabolism
            • inherited metabolic disorder
              • carbohydrate metabolic disorder (1)
              • lysosomal storage disease (1)
              • metal metabolism disorder (1)
              • plasma protein metabolism disease (1)
              • porphyria (1)
              • transthyretin amyloidosis
          • genetic disease
            • inherited metabolic disorder
• Annotation Property
• Data Property
• Object Property
• Individual
• Datatype

• label
  • inherited metabolic disorder ^xsd:string
• definition
  • A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. ^xsd:string
    • dce:type
      • obo:ECO_0007636
      • obo:ECO_0007638
    • oio:hasDbXref
      • url:http://en.wikipedia.org/wiki/Inborn_errors_of_metabolism ^xsd:string
      • url:http://www.ncbi.nlm.nih.gov/mesh/68008659 ^xsd:string
• has exact synonym
  • inborn metabolism disorder ^@en
  • Metabolic hereditary disorder ^@en
  • Inborn Errors of Metabolism ^@en
• has_obo_namespace
  • disease_ontology ^xsd:string
• id
  • DOID:655 ^xsd:string
• in_subset
  • obo:doid#NCIthesaurus
  • obo:doid#DO_MGI_slim
• oio:hasDbXref
  • MESH:D008661 ^xsd:string
  • UMLS_CUI:C0025521 ^xsd:string
  • SNOMEDCT_US_2023_03_01:86095007 ^xsd:string
  • NCI:C34816 ^xsd:string
• rdf:type
  • owl:Class
• rdfs:subClassOf
  • disease of metabolism
  • genetic disease