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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: MIM:608569


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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 chr12:64,357,176...64,500,358
Ensembl chr12:66,960,888...67,102,496 		JBrowse link
G GOLT1B golgi transport 1B ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr12:64,779,889...64,796,264
Ensembl chr12:67,383,798...67,400,189 		JBrowse link
G GYS2 glycogen synthase 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr12:64,693,285...64,761,855
Ensembl chr12:67,297,131...67,365,773 		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 chr12:64,522,172...64,532,848
Ensembl chr12:67,127,263...67,137,128 		JBrowse link
G LDHB lactate dehydrogenase B ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr12:64,640,994...64,663,418
Ensembl chr12:67,245,130...67,267,487 		JBrowse link
G PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr12:64,826,835...64,860,651
Ensembl chr12:67,430,716...67,463,996 		JBrowse link
G RECQL RecQ like helicase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr12:64,796,383...64,829,165
Ensembl chr12:67,400,315...67,432,724 		JBrowse link
G SPX spexin hormone ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1O ClinVar PMID:28492532 NCBI chr12:64,766,136...64,771,728
Ensembl chr12:67,369,413...67,375,630 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15835
    Developmental Disease 13863
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12952
        genetic disease 12652
          monogenic disease 10860
            dilated cardiomyopathy 1O 8
Path 2
Term Annotations click to browse term
  disease 15835
    disease of anatomical entity 15491
      respiratory system disease 4885
        thoracic disease 3729
          heart disease 3181
            cardiomyopathy 1333
              intrinsic cardiomyopathy 984
                dilated cardiomyopathy 524
                  dilated cardiomyopathy 1O 8
paths to the root