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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 15036
    Developmental Diseases 7870
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7198
        genetic disease 6569
          familial hypertrophic cardiomyopathy 85
            hypertrophic cardiomyopathy 25 2
Path 2
Term Annotations click to browse term
  disease 15036
    disease of anatomical entity 14171
      cardiovascular system disease 4072
        heart disease 2238
          heart valve disease 327
            aortic valve disease 239
              aortic valve stenosis 220
                subvalvular aortic stenosis 179
                  hypertrophic cardiomyopathy 178
                    familial hypertrophic cardiomyopathy 85
                      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.