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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 5
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Accession:DOID:0110647 term browser browse the term
Definition:A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE1 gene on chromosome 21q22.12. (DO)
Synonyms:exact_synonym: LQT5
 narrow_synonym: LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO
 primary_id: MESH:C566766
 alt_id: OMIM:613695;   RDO:0015023
 xref: GARD:10433;   ICD10CM:I45.8;   NCI:C172094
For additional species annotation, visit the Alliance of Genome Resources.


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long QT syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Long QT syndrome 5
ClinVar Annotator: match by term: Long QT syndrome 5, acquired, susceptibility to
OMIM
ClinVar
PMID:7828904 PMID:8899564 PMID:9328483 PMID:9354783 PMID:9354802 PMID:9445165 PMID:9834138 PMID:10400998 PMID:10428953 PMID:10807545 PMID:10973849 PMID:11320260 PMID:11692163 PMID:11874988 PMID:12402336 PMID:12566567 PMID:14661677 PMID:14760488 PMID:15051636 PMID:15599693 PMID:15840476 PMID:16132053 PMID:16266404 PMID:16414944 PMID:16487223 PMID:16818210 PMID:16823764 PMID:16887036 PMID:16914890 PMID:16922724 PMID:16945797 PMID:17016049 PMID:17161064 PMID:17210839 PMID:17341399 PMID:17597962 PMID:18426444 PMID:18752142 PMID:18776039 PMID:19008479 PMID:19214780 PMID:19219384 PMID:19305408 PMID:19340287 PMID:19521339 PMID:19695459 PMID:19716085 PMID:19862833 PMID:19907016 PMID:20541041 PMID:20823649 PMID:21070882 PMID:21244686 PMID:21712262 PMID:22100668 PMID:22166941 PMID:22378279 PMID:22581653 PMID:23124029 PMID:23510998 PMID:23631430 PMID:23861362 PMID:24033266 PMID:24400172 PMID:24499369 PMID:24561134 PMID:24606995 PMID:24710009 PMID:25037568 PMID:25637381 PMID:25650408 PMID:25737393 PMID:25741868 PMID:26132555 PMID:26159999 PMID:26187847 PMID:26410412 PMID:26715165 PMID:26743238 PMID:26899768 PMID:26926294 PMID:28003625 PMID:28176637 PMID:28492532 PMID:28767663 PMID:28988457 PMID:29261713 PMID:29625280 PMID:29672598 PMID:29766885 PMID:30123799 PMID:30461122 PMID:30530868 PMID:30847666 PMID:30910390 PMID:31308327 PMID:31376648 PMID:31521807 PMID:31535183 NCBI chr11:32,498,260...32,511,202
Ensembl chr11:32,498,261...32,508,420
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      long QT syndrome 249
        long QT syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              autosomal dominant disease 3160
                long QT syndrome 5 1
paths to the root