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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • Timothy syndrome
described by
id
  • DOID:0060173
created_by
  • lschriml
creation_date
  • 2011-11-08T12:52:33Z
has_alternative_id
  • DOID:0110649
database_cross_reference
  • ICD10CM:G72.3
  • MESH:C536962
  • OMIM:601005
  • ORDO:65283
  • ORDO:768
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A syndrome that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of CACNA1C on chromosome 12p13.33.
is topic of
is annotatedSource of
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