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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:Cardiac Conduction Disease with or without Dilated Cardiomyopathy
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Accession:DOID:9000652 term browser browse the term
Definition:CCDD is caused by heterozygous mutation in the TNNI3K gene (613932) on chromosome 1p31. (OMIM)
Synonyms:exact_synonym: CCDD
 primary_id: OMIM:616117;   RDO:9000809
For additional species annotation, visit the Alliance of Genome Resources.


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Cardiac Conduction Disease with or without Dilated Cardiomyopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO DNA:missense mutations:cds:multiple (human) RGD PMID:10580070 RGD:11066902 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Lrrc53 leucine rich repeat containing 53 ISO ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy ClinVar PMID:25741868, PMID:30010057 NCBI chr 2:261,058,919...261,139,463 JBrowse link
G Tnni3k TNNI3 interacting kinase ISO ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy OMIM
ClinVar
PMID:24925317, PMID:25741868, PMID:25791106, PMID:29355681, PMID:30010057 NCBI chr 2:261,069,210...261,337,294
Ensembl chr 2:261,069,203...261,337,163
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Pathological Conditions, Signs and Symptoms 8723
      Pathologic Processes 6127
        Cardiac Arrhythmias 591
          Cardiac Conduction Disease with or without Dilated Cardiomyopathy 3
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      cardiovascular system disease 4483
        heart disease 2666
          Cardiac Arrhythmias 591
            Brugada syndrome 66
              Cardiac Conduction Defect 10
                Cardiac Conduction Disease with or without Dilated Cardiomyopathy 3
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.