DOID:11198

• Ontology
• Class
  • owl:Thing
    • host health status
      • disease
        • additional diseases by category
          • genetic disease
            • chromosomal disease
              • chromosomal deletion syndrome
                • DiGeorge syndrome
            • monogenic disease
              • autosomal genetic disease
                • autosomal dominant disease
                  • DiGeorge syndrome
          • syndrome
            • DiGeorge syndrome
• Annotation Property
• Data Property
• Object Property
• Individual
• Datatype

• label
  • DiGeorge syndrome ^xsd:string
• comment
  • OMIM mapping confirmed by DO. [SN]. ^xsd:string
• definition
  • A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production. ^xsd:string
    • dce:type
      • obo:ECO_0007643
      • obo:ECO_0007646
    • oio:hasDbXref
      • url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=digeorgesyndrome ^xsd:string
      • url:https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome ^xsd:string
• has exact synonym
  • Pharyngeal pouch syndrome ^@en
  • 22q11.2 deletion syndrome ^@en
  • DiGeorge sequence ^@en
  • DiGeorge's syndrome ^@en
• has_obo_namespace
  • disease_ontology ^xsd:string
• id
  • DOID:11198 ^xsd:string
• in_subset
  • obo:doid#DO_rare_slim
  • obo:doid#NCIthesaurus
• oio:hasDbXref
  • NCI:C2989 ^xsd:string
  • ICD10CM:D82.1 ^xsd:string
  • OMIM:188400 ^xsd:string
  • GARD:10299 ^xsd:string
  • ICD9CM:279.11 ^xsd:string
  • SNOMEDCT_US_2023_03_01:190991007 ^xsd:string
  • UMLS_CUI:C0012236 ^xsd:string
  • MESH:D004062 ^xsd:string
• rdf:type
  • owl:Class
• rdfs:subClassOf
  • chromosomal deletion syndrome
  • autosomal dominant disease
  • syndrome