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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, sub-family C (CFTR/MRP), 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:10398267, PMID:12166651, PMID:15034580, PMID:16563363, PMID:16835932, PMID:17245405, PMID:20474083, PMID:20890277, PMID:21344641, PMID:22608503, PMID:22610116, PMID:23103869, PMID:23307537, PMID:23861362, PMID:24033266, PMID:24439875, PMID:24503780, PMID:25326635, PMID:25341504, PMID:25590979, PMID:25741868, PMID:26656175, PMID:26871653, PMID:27316244, PMID:27532257, PMID:28087566, PMID:28166811, PMID:28492532, PMID:29016939, PMID:29030401, PMID:30311386, PMID:30878466 NCBI chr 6:142,587,862...142,702,766
Ensembl chr 6:142,587,862...142,702,315
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13400
    Developmental Diseases 9395
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8206
        genetic disease 7743
          monogenic disease 5664
            dilated cardiomyopathy 1O 1
Path 2
Term Annotations click to browse term
  disease 13400
    disease of anatomical entity 12876
      cardiovascular system disease 3586
        heart disease 2566
          cardiomyopathy 1113
            intrinsic cardiomyopathy 745
              dilated cardiomyopathy 310
                dilated cardiomyopathy 1O 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.