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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
 primary_id: MESH:C567842
 alt_id: OMIM:612955
 xref: NCI:C192202


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Term paths to the root
Path 1
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  disease 18969
    syndrome 10889
      long QT syndrome 292
        long QT syndrome 12 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                long QT syndrome 12 1
paths to the root