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ONTOLOGY REPORT - ANNOTATIONS


Term:familial hypertrophic cardiomyopathy
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Accession:DOID:0080326 term browser browse the term
Definition:An autosomal dominant inherited form of HYPERTROPHIC CARDIOMYOPATHY. It results from any of more than 50 mutations involving genes encoding contractile proteins such as VENTRICULAR MYOSINS; cardiac TROPONIN T; ALPHA-TROPOMYOSIN.
Synonyms:exact_synonym: familial asymmetric septal hypertrophy;   familial hypertrophic cardiomyopathies;   familial ventricular hypertrophies;   familial ventricular hypertrophy;   hereditary ventricular hypertrophies;   hereditary ventricular hypertrophy;   obstructive asymmetric septal hypertrophy;   primary familial hypertrophic cardiomyopathy
 narrow_synonym: CARDIOMYOPATHY, HYPERTROPHIC, MITOCHONDRIAL;   CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL
 primary_id: MESH:D024741
 alt_id: RDO:0003773
 xref: ORDO:217569
For additional species annotation, visit the Alliance of Genome Resources.


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Term Annotations click to browse term
  disease 0
    Developmental Diseases 0
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0
        genetic disease 0
          familial hypertrophic cardiomyopathy 0
            Apical Hypertrophic Cardiomyopathy and Neuropathy 0
            FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19 0
            Hypertrophic Cardiomyopathy 27 0
            autosomal dominant nonsyndromic deafness 22 0
            hypertrophic cardiomyopathy 1 0
            hypertrophic cardiomyopathy 10 0
            hypertrophic cardiomyopathy 11 0
            hypertrophic cardiomyopathy 12 0
            hypertrophic cardiomyopathy 13 0
            hypertrophic cardiomyopathy 14 0
            hypertrophic cardiomyopathy 15 0
            hypertrophic cardiomyopathy 16 0
            hypertrophic cardiomyopathy 17 0
            hypertrophic cardiomyopathy 18 0
            hypertrophic cardiomyopathy 2 0
            hypertrophic cardiomyopathy 20 0
            hypertrophic cardiomyopathy 21 0
            hypertrophic cardiomyopathy 25 0
            hypertrophic cardiomyopathy 26 0
            hypertrophic cardiomyopathy 3 0
            hypertrophic cardiomyopathy 4 0
            hypertrophic cardiomyopathy 6 0
            hypertrophic cardiomyopathy 7 0
            hypertrophic cardiomyopathy 8 0
            hypertrophic cardiomyopathy 9 0
Path 2
Term Annotations click to browse term
  disease 0
    disease of anatomical entity 0
      cardiovascular system disease 0
        vascular disease 0
          artery disease 0
            aortic disease 0
              aortic valve disease 0
                aortic valve stenosis 0
                  subvalvular aortic stenosis 0
                    hypertrophic cardiomyopathy 0
                      familial hypertrophic cardiomyopathy 0
                        Apical Hypertrophic Cardiomyopathy and Neuropathy 0
                        FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19 0
                        Hypertrophic Cardiomyopathy 27 0
                        autosomal dominant nonsyndromic deafness 22 0
                        hypertrophic cardiomyopathy 1 0
                        hypertrophic cardiomyopathy 10 0
                        hypertrophic cardiomyopathy 11 0
                        hypertrophic cardiomyopathy 12 0
                        hypertrophic cardiomyopathy 13 0
                        hypertrophic cardiomyopathy 14 0
                        hypertrophic cardiomyopathy 15 0
                        hypertrophic cardiomyopathy 16 0
                        hypertrophic cardiomyopathy 17 0
                        hypertrophic cardiomyopathy 18 0
                        hypertrophic cardiomyopathy 2 0
                        hypertrophic cardiomyopathy 20 0
                        hypertrophic cardiomyopathy 21 0
                        hypertrophic cardiomyopathy 25 0
                        hypertrophic cardiomyopathy 26 0
                        hypertrophic cardiomyopathy 3 0
                        hypertrophic cardiomyopathy 4 0
                        hypertrophic cardiomyopathy 6 0
                        hypertrophic cardiomyopathy 7 0
                        hypertrophic cardiomyopathy 8 0
                        hypertrophic cardiomyopathy 9 0
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