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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
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 11815
    Developmental Diseases 8416
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7381
        genetic disease 6958
          monogenic disease 5157
            dilated cardiomyopathy 1Q 0
Path 2
Term Annotations click to browse term
  disease 11815
    disease of anatomical entity 11368
      cardiovascular system disease 3151
        heart disease 2237
          cardiomyopathy 924
            intrinsic cardiomyopathy 645
              dilated cardiomyopathy 242
                dilated cardiomyopathy 1Q 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.