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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:Sinoatrial Node Dysfunction and Deafness
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Accession:DOID:9004852 term browser browse the term
Synonyms:exact_synonym: SANDD
 broad_synonym: CACNA1D-RELATED CONDITION;   CACNA1D-RELATED DISORDER
 primary_id: MIM:614896;   RDO:9001074



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Sinoatrial Node Dysfunction and Deafness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by term: Sinoatrial node dysfunction and deafness OMIM
ClinVar
PMID:21131953 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr16:5,227,157...5,521,163
Ensembl chr16:5,228,306...5,668,215
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7029
      Hearing Disorders 818
        Hearing Loss 813
          Deafness 373
            Sinoatrial Node Dysfunction and Deafness 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18272
      nervous system disease 14119
        Neurologic Manifestations 10108
          sensory system disease 7029
            Otorhinolaryngologic Diseases 1738
              auditory system disease 992
                Hearing Disorders 818
                  Hearing Loss 813
                    Deafness 373
                      Sinoatrial Node Dysfunction and Deafness 1
paths to the root