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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 1O
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Accession:DOID:0110451 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1. (DO)
Synonyms:exact_synonym: CMD1O;   dilated cardiomyopathy with ventricular tachycardia
 primary_id: MESH:C563906
 alt_id: OMIM:608569
For additional species annotation, visit the Alliance of Genome Resources.


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dilated cardiomyopathy 1O term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by OMIM:608569
ClinVar Annotator: match by term: Dilated cardiomyopathy 1O
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA		 OMIM
ClinVar		 PMID:9536098 PMID:12166651 PMID:15034580 PMID:16563363 PMID:16835932 More... NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    Developmental Disease 10968
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9504
        genetic disease 9008
          monogenic disease 7172
            dilated cardiomyopathy 1O 1
Path 2
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      cardiovascular system disease 4517
        heart disease 2697
          cardiomyopathy 1099
            intrinsic cardiomyopathy 739
              dilated cardiomyopathy 301
                dilated cardiomyopathy 1O 1
paths to the root