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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 4
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Accession:DOID:0111701 term browser browse the term
Definition:A long QT syndrome that has_material_basis_in heterozygous mutation in ANK2 on chromosome 4q25-q26. (DO)
Synonyms:exact_synonym: LQT4
 primary_id: MESH:C563428
 xref: GARD:10432
For additional species annotation, visit the Alliance of Genome Resources.


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long QT syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Long QT syndrome 4 ClinVar PMID:7485162 PMID:12571597 PMID:15075330 PMID:15178757 PMID:16253912 More... NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      long QT syndrome 252
        long QT syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                long QT syndrome 4 1
paths to the root