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ONTOLOGY REPORT - ANNOTATIONS


Term:X-linked dilated cardiomyopathy
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Accession:DOID:0110461 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21, without skeletal muscle weakness or wasting. (DO)
Synonyms:exact_synonym: CMD3B;   DMD-associated dilated cardiomyopathy;   DMD-related dilated cardiomyopathy;   XLCM;   dilated cardiomyopathy 3B
 primary_id: MESH:C580047
 alt_id: DOID:0060561;   OMIM:302045
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X-linked dilated cardiomyopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:7240710
RGD:8554872
G Dnase1l1 deoxyribonuclease 1-like 1 JBrowse link X 156,429,521 156,438,066 RGD:8554872
G Pkp2 plakophilin 2 JBrowse link 11 88,912,163 88,972,213 RGD:8554872
G Snta1 syntrophin, alpha 1 JBrowse link 3 149,874,023 149,905,980 RGD:8554872
G Taz tafazzin JBrowse link X 156,421,006 156,429,461 RGD:8554872

Term paths to the root
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Term Annotations click to browse term
  disease 15469
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7614
        genetic disease 7099
          monogenic disease 4781
            X-linked monogenic disease 853
              X-linked dilated cardiomyopathy 5
Path 2
Term Annotations click to browse term
  disease 15469
    disease of anatomical entity 14820
      cardiovascular system disease 4172
        heart disease 2390
          cardiomyopathy 938
            intrinsic cardiomyopathy 613
              dilated cardiomyopathy 276
                X-linked dilated cardiomyopathy 5
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