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long QT syndrome 12 - Ontology Report - Rat Genome Database

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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:long QT syndrome 12
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Accession:DOID:0110653 term browser browse the term
Definition:A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SNTA1 gene on chromosome 20q11.21. (DO)
Synonyms:exact_synonym: LQT12;   SNTA1-RELATED CONDITION
 primary_id: MESH:C567842
 alt_id: MIM:612955
 xref: NCI:C192202

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  disease 19140
    syndrome 11403
      long QT syndrome 314
        long QT syndrome 12 1
Path 2
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  disease 19140
    disease of anatomical entity 18453
      respiratory system disease 5243
        thoracic disease 4046
          heart disease 3473
            cardiomyopathy 1430
              intrinsic cardiomyopathy 1018
                long QT syndrome 314
                  long QT syndrome 12 1
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