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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 1CC
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Accession:DOID:0110424 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the NEXN gene on chromosome 1p31.1. (DO)
Synonyms:exact_synonym: CMD1CC
 broad_synonym: NEXN-RELATED CONDITION
 primary_id: MESH:C567733
 alt_id: OMIM:613122


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      cardiovascular system disease 4559
        heart disease 3211
          Cardiomegaly 783
            dilated cardiomyopathy 469
              dilated cardiomyopathy 1CC 1
Path 2
Term Annotations click to browse term
  disease 18301
    Developmental Disease 17912
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17782
        genetic disease 17756
          monogenic disease 10362
            autosomal genetic disease 9535
              autosomal dominant disease 6266
                dilated cardiomyopathy 1CC 1
paths to the root