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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 9
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Accession:DOID:0110650 term browser browse the term
Definition:A long QT syndrome that has_material_basis_in mutation of the CAV3 gene on chromosome 3p25.3. (DO)
Synonyms:exact_synonym: LQT9;   Long Qt Syndrome 2-9
 narrow_synonym: LONG QT SYNDROME 2/9, DIGENIC;   LONG QT SYNDROME 9, ACQUIRED, SUSCEPTIBILITY TO;   LQT2/9, DIGENIC
 primary_id: MESH:C567515
 alt_id: OMIM:611818;   RDO:0015575
 xref: GARD:10435
For additional species annotation, visit the Alliance of Genome Resources.



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long QT syndrome 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Long QT syndrome 9
ClinVar Annotator: match by OMIM:611818
OMIM
ClinVar
PMID:09536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 More... NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Long QT syndrome 2/9, digenic ClinVar PMID:14661677 PMID:15840476 PMID:17060380 PMID:19716085 PMID:19862833 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
JBrowse link
G Ssuh2 ssu-2 homolog ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Long QT syndrome 9
ClinVar PMID:15580566 PMID:17275750 PMID:18606002 PMID:25741868 PMID:28492532 NCBI chr 4:145,502,942...145,521,881
Ensembl chr 4:145,503,185...145,521,735
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      long QT syndrome 253
        long QT syndrome 9 3
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 9 3
paths to the root