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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:Familial Atrial Fibrillation 17
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Accession:DOID:9002990 term browser browse the term
Comment:is part of OMIM:611819, LQT10
Synonyms:exact_synonym: ATFB17
For additional species annotation, visit the Alliance of Genome Resources.


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Familial Atrial Fibrillation 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 17 ClinVar PMID:23604097 NCBI chr 8:49,441,106...49,456,279
Ensembl chr 8:49,441,106...49,456,279
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      long QT syndrome 251
        long QT syndrome 10 38
          Familial Atrial Fibrillation 17 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      cardiovascular system disease 4454
        heart disease 2664
          cardiomyopathy 1085
            intrinsic cardiomyopathy 736
              long QT syndrome 251
                long QT syndrome 10 38
                  Familial Atrial Fibrillation 17 1
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.