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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 1I
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Accession:DOID:0110431 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the DES gene on chromosome 2q35. (DO)
Synonyms:exact_synonym: CMD1I
 primary_id: MESH:C565752
 alt_id: OMIM:604765


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dilated cardiomyopathy 1I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Des desmin ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:604765
ClinVar Annotator: match by term: Dilated cardiomyopathy 1I		 OMIM
CTD
MouseDO
ClinVar		 PMID:9536098 PMID:9697706 PMID:10430757 PMID:10717012 PMID:10905661 More... NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1I ClinVar PMID:11499719 PMID:12974739 PMID:15519027 PMID:16199542 PMID:16715312 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Speg striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1I ClinVar NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            dilated cardiomyopathy 1I 3
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      cardiovascular system disease 5404
        heart disease 3320
          cardiomyopathy 1301
            intrinsic cardiomyopathy 906
              dilated cardiomyopathy 455
                dilated cardiomyopathy 1I 3
paths to the root