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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 1Q
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Accession:DOID:0110442 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 7q22.3-q31.1. (DO)
Synonyms:exact_synonym: CMD1Q
 primary_id: MESH:C563688
 alt_id: OMIM:609915



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            dilated cardiomyopathy 1Q 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      cardiovascular system disease 5412
        heart disease 3329
          cardiomyopathy 1309
            intrinsic cardiomyopathy 915
              dilated cardiomyopathy 463
                dilated cardiomyopathy 1Q 0
paths to the root