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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:Sick Sinus Syndrome 1, Autosomal Recessive
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Accession:DOID:9003705 term browser browse the term
Synonyms:exact_synonym: FAMILIAL SICK SINUS SYNDROME;   SSS1;   Sick Sinus Syndrome, Congenital;   Sinus Bradycardia Syndrome, Familial;   Sinus Node Disease, Familial, Autosomal Recessive;   congenital absence of sinus rhythm;   sick sinus syndrome 1
 primary_id: MESH:C563907
 alt_id: OMIM:608567


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Sick Sinus Syndrome 1, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: SINUS RHYTHM, CONGENITAL ABSENCE OF | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive
ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: SINUS BRADYCARDIA SYNDROME, FAMILIAL | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive
ClinVar Annotator: match by term: Familial sick sinus syndrome | ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive		 ClinVar
CTD
OMIM		 PMID:235469 PMID:291807 PMID:461398 PMID:1309946 PMID:2030070 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      sick sinus syndrome 13
        Sick Sinus Syndrome 1, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        peripheral nervous system disease 4122
          neuropathy 3906
            neuromuscular disease 3059
              muscular disease 2148
                muscle tissue disease 1294
                  sinoatrial node disease 13
                    sick sinus syndrome 13
                      Sick Sinus Syndrome 1, Autosomal Recessive 1
paths to the root