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ONTOLOGY REPORT - ANNOTATIONS


Term:Timothy syndrome
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Accession:DOID:0060173 term browser browse the term
Definition:An autosomal dominant disease 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
 primary_id: MESH:C536962
 alt_id: OMIM:601005;   RDO:0002696
 xref: ORDO:65283;   ORDO:768
For additional species annotation, visit the Alliance of Genome Resources.


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Timothy syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1c calcium voltage-gated channel subunit alpha1 C JBrowse link 4 150,635,808 151,270,790 RGD:1580173
RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
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  disease 14759
    syndrome 4210
      long QT syndrome 177
        Timothy syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              Neurodevelopmental Disorders 2745
                Pervasive Child Development Disorders 1694
                  autism spectrum disorder 1691
                    autistic disorder 1570
                      Timothy syndrome 1
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