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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 1R
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Accession:DOID:0110456 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the ACTC1 gene on chromosome 15q14. (DO)
Synonyms:exact_synonym: CMD1R
 primary_id: OMIM:613424
 alt_id: RDO:9001843
For additional species annotation, visit the Alliance of Genome Resources.



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dilated cardiomyopathy 1R term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actc1 actin, alpha, cardiac muscle 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1R ClinVar
OMIM
PMID:9563954 PMID:19799913 PMID:22555271 PMID:22590617 PMID:23054336 More... NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      cardiovascular system disease 4526
        heart disease 2702
          Cardiomegaly 675
            dilated cardiomyopathy 300
              dilated cardiomyopathy 1R 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                dilated cardiomyopathy 1R 1
paths to the root