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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 term: CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA | ClinVar Annotator: match by term: Dilated cardiomyopathy 1O OMIM
ClinVar
PMID:9536098 PMID:12166651 PMID:15034580 PMID:16199547 PMID:16563363 More... NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
JBrowse link
G Golt1b golgi transport 1B ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr 4:175,333,056...175,346,156
Ensembl chr 4:175,333,092...175,346,153
JBrowse link
G Gys2 glycogen synthase 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr 4:175,365,054...175,406,228
Ensembl chr 4:175,365,054...175,406,228
JBrowse link
G Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603
JBrowse link
G Ldhb lactate dehydrogenase B ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr 4:175,428,382...175,446,403
Ensembl chr 4:175,428,385...175,446,403
JBrowse link
G Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr 4:175,292,124...175,311,143
Ensembl chr 4:175,292,177...175,308,689
JBrowse link
G Recql RecQ like helicase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr 4:175,308,337...175,332,965
Ensembl chr 4:175,304,117...175,332,945
JBrowse link
G Spx spexin hormone ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr 4:175,356,044...175,362,082
Ensembl chr 4:175,356,247...175,362,082
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18203
    Developmental Disease 13119
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11888
        genetic disease 11398
          monogenic disease 8950
            dilated cardiomyopathy 1O 8
Path 2
Term Annotations click to browse term
  disease 18203
    disease of anatomical entity 17561
      cardiovascular system disease 4914
        heart disease 2999
          cardiomyopathy 1182
            intrinsic cardiomyopathy 815
              dilated cardiomyopathy 392
                dilated cardiomyopathy 1O 8
paths to the root