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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 5
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Accession:DOID:0110647 term browser browse the term
Definition:A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE1 gene on chromosome 21q22.12. (DO)
Synonyms:exact_synonym: LQT5
 narrow_synonym: LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO
 primary_id: MESH:C566766
 alt_id: OMIM:613695;   RDO:0015023
 xref: GARD:10433;   ICD10CM:I45.8;   NCI:C172094
For additional species annotation, visit the Alliance of Genome Resources.



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long QT syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Long QT syndrome 5
ClinVar Annotator: match by term: Long QT syndrome 5, acquired, susceptibility to
OMIM
ClinVar
PMID:7828904 PMID:8899564 PMID:9328483 PMID:9354783 PMID:9354802 More... NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
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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 5 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 5 1
paths to the root