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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 4
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Accession:DOID:9002070 term browser browse the term
Definition:Characterized by early and progressive sinus node and atrioventricular conduction dysfunction. Caused by heterozygous mutation in the GNB2 gene on chromosome 7q22. (OMIM)
Synonyms:exact_synonym: SSS4
 broad_synonym: GNB2-RELATED CONDITION
 primary_id: OMIM:619464


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Sick Sinus Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnb2 G protein subunit beta 2 ISO ClinVar Annotator: match by term: GNB2-related condition | ClinVar Annotator: match by term: Sick sinus syndrome 4 OMIM
ClinVar		 PMID:25741868 PMID:28219978 PMID:31698099 PMID:34183358 NCBI chr12:19,159,002...19,164,021
Ensembl chr12:19,158,973...19,164,019 		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 4 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 4 1
paths to the root