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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 1V
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Accession:DOID:0110427 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN2 gene on chromosome 1q31-q42. (DO)
Synonyms:exact_synonym: CMD1V
 primary_id: MESH:C566856
 alt_id: OMIM:613697;   RDO:0015079
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 17208
    disease of anatomical entity 16554
      cardiovascular system disease 4514
        heart disease 2691
          Cardiomegaly 674
            dilated cardiomyopathy 300
              dilated cardiomyopathy 1V 1
Path 2
Term Annotations click to browse term
  disease 17208
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9458
        genetic disease 8961
          monogenic disease 7129
            autosomal genetic disease 6276
              autosomal dominant disease 4461
                dilated cardiomyopathy 1V 1
paths to the root