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ONTOLOGY REPORT - ANNOTATIONS


Term:dilated cardiomyopathy 1KK
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Accession:DOID:0110445 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the MYPN gene on chromosome 10q21. (DO)
Synonyms:exact_synonym: CMD1KK
 narrow_synonym: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22;   CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4;   CMH22;   RCM4
 primary_id: OMIM:615248
 alt_id: DOID:9000729;   DOID:9007846;   RDO:9000325;   RDO:9000708;   RDO:9000725
For additional species annotation, visit the Alliance of Genome Resources.


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dilated cardiomyopathy 1KK term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mybpc3 myosin binding protein C, cardiac JBrowse link 3 79,940,509 79,958,731 RGD:8554872
G Mypn myopalladin JBrowse link 20 26,988,820 27,074,106 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          familial hypertrophic cardiomyopathy 86
            dilated cardiomyopathy 1KK 2
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      cardiovascular system disease 4277
        vascular disease 3309
          artery disease 2187
            aortic disease 439
              aortic valve disease 242
                aortic valve stenosis 223
                  subvalvular aortic stenosis 182
                    hypertrophic cardiomyopathy 181
                      familial hypertrophic cardiomyopathy 86
                        dilated cardiomyopathy 1KK 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.