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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 15
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Accession:DOID:0110656 term browser browse the term
Definition:A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM2 gene on chromosome 2p21. (DO)
Synonyms:exact_synonym: LQT15
 primary_id: OMIM:616249
For additional species annotation, visit the Alliance of Genome Resources.


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long QT syndrome 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calm2 calmodulin 2 ISO ClinVar Annotator: match by term: Long QT syndrome 15 ClinVar
OMIM
PMID:11569915 PMID:23388215 PMID:24917665 PMID:25741868 PMID:26164367 More... NCBI chr 6:7,091,624...7,104,284
Ensembl chr 6:7,091,567...7,104,287
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      long QT syndrome 252
        long QT syndrome 15 1
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          monogenic disease 7129
            autosomal genetic disease 6277
              autosomal dominant disease 4462
                long QT syndrome 15 1
paths to the root