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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 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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 2:243,781,445...243,807,037 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 2:243,737,346...244,005,319
Ensembl chr 2:243,710,950...244,005,268
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Pathological Conditions, Signs and Symptoms 10289
      Pathologic Processes 6728
        Cardiac Arrhythmias 594
          Cardiac Conduction Disease with or without Dilated Cardiomyopathy 3
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      cardiovascular system disease 4526
        heart disease 2702
          Cardiac Arrhythmias 594
            Brugada syndrome 67
              Cardiac Conduction Defect 10
                Cardiac Conduction Disease with or without Dilated Cardiomyopathy 3
paths to the root