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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 1LL
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Accession:DOID:9000215 term browser browse the term
Synonyms:exact_synonym: CMD1LL
 primary_id: RDO:9000709
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Dilated Cardiomyopathy 1LL term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1LL ClinVar PMID:23768516, PMID:24033266, PMID:27535533, PMID:28492532 NCBI chr 5:171,662,277...171,711,561
Ensembl chr 5:171,662,277...171,710,316
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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 1LL 1
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 1LL 1
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.