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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 1DD
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Accession:DOID:0110447 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the RBM20 gene on chromosome 10q25. (DO)
Synonyms:exact_synonym: CMD1DD
 primary_id: MESH:C567725
 alt_id: OMIM:613172;   RDO:0015714
 xref: NCI:C174435
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      cardiovascular system disease 4525
        heart disease 2702
          Cardiomegaly 675
            dilated cardiomyopathy 300
              dilated cardiomyopathy 1DD 2
Path 2
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9531
        genetic disease 9032
          monogenic disease 7190
            autosomal genetic disease 6338
              autosomal dominant disease 4492
                dilated cardiomyopathy 1DD 2
paths to the root