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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;   TNNI3K-RELATED CONDITION
 primary_id: MIM:616117;   RDO:9000809


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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 2:176,237,564...176,265,301
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 Annotator: match by term: TNNI3K-related condition ClinVar PMID:25741868 PMID:28492532 PMID:30010057 PMID:34203974 NCBI chr 2:246,441,139...246,467,281
Ensembl chr 2:243,769,297...243,803,164 		JBrowse link
G Tnni3k TNNI3 interacting kinase ISO ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy | ClinVar Annotator: match by term: TNNI3K-related condition OMIM
ClinVar		 PMID:16199547 PMID:24925317 PMID:25741868 PMID:25791106 PMID:28492532 More... NCBI chr 2:246,397,051...246,665,000
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 19139
    syndrome 11404
      Brugada syndrome 154
        Cardiac Conduction Defect 21
          Cardiac Conduction Disease with or without Dilated Cardiomyopathy 3
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      respiratory system disease 5245
        thoracic disease 4049
          heart disease 3476
            heart conduction disease 466
              Brugada syndrome 154
                Cardiac Conduction Defect 21
                  Cardiac Conduction Disease with or without Dilated Cardiomyopathy 3
paths to the root