DOID:3204

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

• label
  • schwannomatosis ^xsd:string
• definition
  • A RASopathy characterized by the development of schwannomas or hybrid nerve sheath tumors. ^xsd:string
    • dce:type
      • obo:ECO_0007645
    • oio:hasDbXref
      • url:https://health.ucdavis.edu/mindinstitute/clinic/genomic-medicine/RASclinic.html ^xsd:string
      • url:https://pubmed.ncbi.nlm.nih.gov/35674741/ ^xsd:string
• has broader match
  • ORDO:634518 ^xsd:string
• has exact match
  • NCI:C6557 ^xsd:string
  • ICD9CM:237.73 ^xsd:string
  • ICD10CM:Q85.03 ^xsd:string
  • ICDO:9560/1 ^xsd:string
  • ORDO:93921 ^xsd:string
  • MESH:C536641 ^xsd:string
  • OMIM:PS162091 ^xsd:string
  • UMLS_CUI:C1335929 ^xsd:string
  • SNOMEDCT_US_2023_03_01:781641005 ^xsd:string
• has exact synonym
  • neurinomatosis ^xsd:string
  • SWN ^xsd:string
  • neurilemmomatosis ^xsd:string
• has narrower match
  • ORDO:634492 ^xsd:string
• has_obo_namespace
  • disease_ontology ^xsd:string
• id
  • DOID:3204 ^xsd:string
• in_subset
  • obo:doid#NCIthesaurus
  • obo:doid#DO_cancer_slim
  • obo:doid#DO_rare_slim
• oio:hasDbXref
  • ICDO:9560/1 ^xsd:string
  • ICD9CM:237.73 ^xsd:string
  • MESH:C536641 ^xsd:string
  • ICD10CM:Q85.03 ^xsd:string
  • UMLS_CUI:C1335929 ^xsd:string
  • ORDO:93921 ^xsd:string
  • SNOMEDCT_US_2023_03_01:781641005 ^xsd:string
  • NCI:C6557 ^xsd:string
  • OMIM:PS162091 ^xsd:string
• rdf:type
  • owl:Class
• rdfs:subClassOf
  • RASopathy
  • autosomal dominant disease