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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 PMID:17060380 PMID:17210839 PMID:17275750 PMID:18253147 PMID:19380584 PMID:19773168 PMID:22245016 PMID:22378279 PMID:22584458 PMID:22595201 PMID:23465283 PMID:23640888 PMID:23861362 PMID:24021552 PMID:24033266 PMID:24070816 PMID:24123366 PMID:24503780 PMID:25741868 PMID:25757662 PMID:26159999 PMID:26467025 PMID:26498160 PMID:27312022 PMID:27483260 PMID:27600940 PMID:27930701 PMID:28407228 PMID:28492532 PMID:28898996 PMID:29396561 PMID:29501670 PMID:29961767 PMID:30704477 PMID:31043699 NCBI chr 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917
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 PMID:22245016 PMID:22581653 PMID:23139254 PMID:23174487 PMID:23631430 PMID:23936059 PMID:24021552 PMID:24606995 PMID:25417810 PMID:25741868 PMID:25967940 PMID:26213684 PMID:28492532 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
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:25741868 NCBI chr 4:144,301,913...144,322,197
Ensembl chr 4:144,307,817...144,318,580
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      long QT syndrome 250
        long QT syndrome 9 3
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 9 3
paths to the root