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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 11
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Accession:DOID:0110652 term browser browse the term
Definition:A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the AKAP9 gene on chromosome 7q21.2. (DO)
Synonyms:exact_synonym: AKAP9-RELATED CONDITION;   LQT11
 primary_id: MESH:C567513
 alt_id: OMIM:611820
 xref: GARD:10437;   NCI:C192195


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    syndrome 10887
      long QT syndrome 292
        long QT syndrome 11 1
Path 2
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        genetic disease 13024
          monogenic disease 10419
            autosomal genetic disease 9577
              autosomal dominant disease 6310
                long QT syndrome 11 1
paths to the root