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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:infantile hypertrophic cardiomyopathy
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Accession:DOID:0111753 term browser browse the term
Definition:A hypertrophic cardiomyopathy characterized by isolated hypertrophic cardiomyopathy and congestive heart failure that has_material_basis_in mutation in the overlapping mitochondrial genes MTATP6 and MTATP8. (DO)
Synonyms:primary_id: MIM:500006

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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14197
    disease of anatomical entity 13866
      cardiovascular system disease 4090
        heart disease 2843
          cardiomyopathy 1148
            intrinsic cardiomyopathy 840
              hypertrophic cardiomyopathy 268
                infantile hypertrophic cardiomyopathy 0
Path 2
Term Annotations click to browse term
  disease 14197
    disease of anatomical entity 13866
      cardiovascular system disease 4090
        vascular disease 2869
          artery disease 1896
            aortic disease 725
              aortic valve disease 351
                aortic valve stenosis 329
                  subvalvular aortic stenosis 270
                    hypertrophic cardiomyopathy 268
                      infantile hypertrophic cardiomyopathy 0
paths to the root