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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 1MM
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Accession:DOID:0081158 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the MYBPC3 gene on chromosome 11p11. (DO)
Synonyms:exact_synonym: CMD1MM;   LVNC10;   Left Ventricular Noncompaction 10
 broad_synonym: MYBPC3-RELATED CONDITION
 primary_id: OMIM:615396
 alt_id: DOID:9008209


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dilated cardiomyopathy 1MM term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mybpc3 myosin binding protein C3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1MM | ClinVar Annotator: match by term: Left ventricular noncompaction 10		 OMIM
CTD
ClinVar		 PMID:198863 PMID:203962 PMID:203979 PMID:208206 PMID:747929 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital heart disease 1349
        Isolated Noncompaction of the Ventricular Myocardium 105
          left ventricular noncompaction 103
            Dilated Cardiomyopathy with Left Ventricular Noncompaction 92
              dilated cardiomyopathy 1MM 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      cardiovascular system disease 5413
        heart disease 3329
          endocardium disease 106
            endocardial fibroelastosis 105
              Isolated Noncompaction of the Ventricular Myocardium 105
                left ventricular noncompaction 103
                  Dilated Cardiomyopathy with Left Ventricular Noncompaction 92
                    dilated cardiomyopathy 1MM 1
paths to the root