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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 16103
    syndrome 6989
      long QT syndrome 251
        long QT syndrome 9 3
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          monogenic disease 5622
            autosomal genetic disease 4625
              autosomal dominant disease 2993
                long QT syndrome 9 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.