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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 11
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Accession:DOID:9008693 term browser browse the term
Synonyms:exact_synonym: ATFB11
 primary_id: OMIM:614049
 alt_id: RDO:9000187


show annotations for term's descendants           Sort by:
Familial Atrial Fibrillation 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja5 gap junction protein, alpha 5 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 11
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9588401 PMID:16790700 PMID:20818502 PMID:23348765 PMID:24060583 More... NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Pathologic Processes 7982
        Cardiac Arrhythmias 726
          atrial fibrillation 232
            familial atrial fibrillation 42
              Familial Atrial Fibrillation 11 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      cardiovascular system disease 5404
        heart disease 3320
          heart conduction disease 399
            atrial fibrillation 232
              familial atrial fibrillation 42
                Familial Atrial Fibrillation 11 1
paths to the root