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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Timothy syndrome
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Accession:DOID:0060173 term browser browse the term
Definition: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. (DO)
Synonyms:exact_synonym: LQT8;   TS;   long QT syndrome 8;   long QT syndrome with syndactyly
 broad_synonym: CACNA1C-related disorder
 primary_id: MESH:C536962
 alt_id: OMIM:601005;   OMIM:618447
 xref: NCI:C142894;   ORDO:65283;   ORDO:768
For additional species annotation, visit the Alliance of Genome Resources.



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Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      long QT syndrome 253
        Timothy syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              Neurodevelopmental Disorders 5718
                pervasive developmental disorder 1831
                  autism spectrum disorder 1820
                    autistic disorder 1617
                      Timothy syndrome 1
paths to the root