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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: LQT11
 primary_id: MESH:C567513
 alt_id: OMIM:611820;   RDO:0015573
 xref: GARD:10437
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
long QT syndrome 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by OMIM:611820
ClinVar Annotator: match by term: Long QT syndrome 11
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18093912 PMID:23861362 PMID:24033266 More... NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      long QT syndrome 253
        long QT syndrome 11 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                long QT syndrome 11 1
paths to the root