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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 1M
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Accession:DOID:0110449 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the CSRP3 gene on chromosome 11p15. (DO)
Synonyms:exact_synonym: CMD1M
 broad_synonym: CSRP3-RELATED DISORDER
 primary_id: MESH:C564390
 alt_id: OMIM:607482



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          monogenic disease 10362
            dilated cardiomyopathy 1M 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      cardiovascular system disease 5404
        heart disease 3320
          cardiomyopathy 1300
            intrinsic cardiomyopathy 906
              dilated cardiomyopathy 455
                dilated cardiomyopathy 1M 1
paths to the root