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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 14
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Accession:DOID:0110655 term browser browse the term
Definition:A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM1 gene on chromosome 14q32.11. (DO)
Synonyms:exact_synonym: LQT14
 primary_id: OMIM:616247
For additional species annotation, visit the Alliance of Genome Resources.


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long QT syndrome 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calm1 calmodulin 1 ISO ClinVar Annotator: match by term: Long QT syndrome 14 OMIM
ClinVar
PMID:23040497 PMID:23388215 PMID:24076290 PMID:25036739 PMID:25741868 PMID:26164367 PMID:26969752 PMID:27165696 PMID:28158429 PMID:28492532 PMID:31454269 NCBI chr 6:124,217,241...124,225,292
Ensembl chr 6:124,217,241...124,225,292
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      long QT syndrome 250
        long QT syndrome 14 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal dominant disease 3058
                long QT syndrome 14 1
paths to the root