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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar Annotator: match by term: Dilated cardiomyopathy 1I OMIM
ClinVar
PMID:9697706 PMID:10430757 PMID:10717012 PMID:10905661 PMID:11310634 More... NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    Developmental Disease 13110
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11866
        genetic disease 11373
          monogenic disease 8946
            dilated cardiomyopathy 1I 1
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      cardiovascular system disease 4908
        heart disease 2991
          cardiomyopathy 1182
            intrinsic cardiomyopathy 814
              dilated cardiomyopathy 392
                dilated cardiomyopathy 1I 1
paths to the root