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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


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      cardiovascular system disease 5412
        heart disease 3307
          Cardiomegaly 868
            dilated cardiomyopathy 462
              dilated cardiomyopathy 1V 1
Path 2
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        genetic disease 13024
          monogenic disease 10419
            autosomal genetic disease 9577
              autosomal dominant disease 6310
                dilated cardiomyopathy 1V 1
paths to the root