Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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 11
go back to main search page
Accession:DOID:0110652 term browser browse the term
Definition:A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the AKAP9 gene on chromosome 7q21.2. (DO)
Synonyms:exact_synonym: LQT11
 primary_id: MESH:C567513
 alt_id: OMIM:611820;   RDO:0015573
 xref: GARD:10437
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
long QT syndrome 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by OMIM:611820
ClinVar Annotator: match by term: Long QT syndrome 11
OMIM
ClinVar
PMID:18093912 PMID:23861362 PMID:24033266 PMID:25741868 PMID:26159999 PMID:26230511 PMID:26704558 PMID:28074886 PMID:28492532 PMID:28750076 PMID:29574703 NCBI chr 4:27,195,346...27,331,582
Ensembl chr 4:27,195,346...27,331,582
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    syndrome 7036
      long QT syndrome 249
        long QT syndrome 11 1
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          monogenic disease 5739
            autosomal genetic disease 4756
              autosomal dominant disease 3032
                long QT syndrome 11 1
paths to the root