DOID:14250

• Ontology
• Class
  • owl:Thing
    • host health status
      • disease
        • additional diseases by category
          • genetic disease
            • chromosomal disease
              • chromosomal duplication syndrome
                • Down syndrome
• Annotation Property
• Data Property
• Object Property
• Individual
• Datatype

• label
  • Down syndrome ^xsd:string
• comment
  • OMIM mapping confirmed by DO. [SN]. ^xsd:string
• definition
  • A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. ^xsd:string
    • dce:type
      • obo:ECO_0007636
      • obo:ECO_0007637
      • obo:ECO_0007638
    • oio:hasDbXref
      • url:http://en.wikipedia.org/wiki/Down_syndrome ^xsd:string
      • url:http://ghr.nlm.nih.gov/condition/down-syndrome ^xsd:string
      • url:http://www.nichd.nih.gov/health/topics/down/Pages/default.aspx ^xsd:string
      • url:http://www.omim.org/entry/190685?search=down%20syndrome&highlight=down%20syndromic%20syndrome ^xsd:string
      • url:https://research.nhgri.nih.gov/atlas/condition/trisomy-21 ^xsd:string
• has exact synonym
  • Down's syndrome ^@en
  • Downs syndrome ^@en
  • Complete trisomy 21 syndrome ^@en
  • Down's syndrome - trisomy 21 ^@en
  • trisomy 21 syndrome ^@en
  • G Trisomy ^@en
• has_obo_namespace
  • disease_ontology ^xsd:string
• id
  • DOID:14250 ^xsd:string
• in_subset
  • obo:doid#NCIthesaurus
  • obo:doid#DO_rare_slim
  • obo:doid#DO_FlyBase_slim
• oio:hasDbXref
  • GARD:10247 ^xsd:string
  • NCI:C2993 ^xsd:string
  • ORDO:870 ^xsd:string
  • MESH:D004314 ^xsd:string
  • SNOMEDCT_US_2023_03_01:41040004 ^xsd:string
  • ICD10CM:Q90 ^xsd:string
  • OMIM:190685 ^xsd:string
  • ICD9CM:758.0 ^xsd:string
  • UMLS_CUI:C0013080 ^xsd:string
• rdf:type
  • owl:Class
• rdfs:subClassOf
  • chromosomal duplication syndrome