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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
 primary_id: MESH:C564390
 alt_id: OMIM:607482
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 18203
    Developmental Disease 13119
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11888
        genetic disease 11398
          monogenic disease 8950
            dilated cardiomyopathy 1M 1
Path 2
Term Annotations click to browse term
  disease 18203
    disease of anatomical entity 17561
      cardiovascular system disease 4914
        heart disease 2999
          cardiomyopathy 1182
            intrinsic cardiomyopathy 815
              dilated cardiomyopathy 392
                dilated cardiomyopathy 1M 1
paths to the root