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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:Dilated Cardiomyopathy 2C
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Accession:DOID:9006747 term browser browse the term
Definition:A dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years. Affected individuals exhibit reduction in coenzyme A (CoA) levels.
Synonyms:exact_synonym: CARDIOMYOPATHY, DILATED, 2C;   CMD2C
 primary_id: OMIM:618189
For additional species annotation, visit the Alliance of Genome Resources.


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Dilated Cardiomyopathy 2C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc30 coiled-coil domain containing 30 ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 2C ClinVar PMID:29754768 NCBI chr 5:138,364,211...138,462,922
Ensembl chr 5:138,364,167...138,462,864
JBrowse link
G Ppcs phosphopantothenoylcysteine synthetase ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 2C ClinVar
OMIM
PMID:29754768 NCBI chr 5:138,466,298...138,470,108
Ensembl chr 5:138,466,293...138,470,096
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      cardiovascular system disease 4454
        heart disease 2664
          Cardiomegaly 668
            dilated cardiomyopathy 298
              Dilated Cardiomyopathy 2C 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      cardiovascular system disease 4454
        heart disease 2664
          cardiomyopathy 1085
            intrinsic cardiomyopathy 736
              dilated cardiomyopathy 298
                Dilated Cardiomyopathy 2C 2
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.