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ONTOLOGY REPORT - ANNOTATIONS


Term:hypertrophic cardiomyopathy 25
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Accession:DOID:0110328 term browser browse the term
Definition:A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TCAP gene on chromosome 17q12. (DO)
Synonyms:exact_synonym: CMH25;   Cardiomyopathy, Dilated, 1N;   cardiomyopathy familial hypertrophic 25
 primary_id: MESH:C564388;   RDO:0013370
 alt_id: OMIM:607487
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hypertrophic cardiomyopathy 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tcap titin-cap JBrowse link 10 86,337,705 86,338,414 RGD:7240710
RGD:8554872
G Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:8554872

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
            hypertrophic cardiomyopathy 25 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
                        hypertrophic cardiomyopathy 25 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.