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ONTOLOGY REPORT - ANNOTATIONS


Term:dilated cardiomyopathy 1A
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Accession:DOID:0110425 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. (DO)
Synonyms:exact_synonym: CDCD1;   CMD1A;   dilated cardiomyopathy with conduction defect 1;   dilated cardiomyopathy, LMNA;   familial dilated cardiomyopathy with conduction defect due to LMNA mutation
 primary_id: OMIM:115200
 alt_id: RDO:9001841
 xref: ORDO:300751
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dilated cardiomyopathy 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dot1l DOT1 like histone lysine methyltransferase JBrowse link 7 11,786,105 11,824,742 RGD:13592920
G Hand2 heart and neural crest derivatives expressed 2 JBrowse link 16 36,371,489 36,373,551 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
RGD:7240710
G Mybpc3 myosin binding protein C, cardiac JBrowse link 3 79,940,509 79,958,731 RGD:8554872

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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          dilated cardiomyopathy 1A 4
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      cardiovascular system disease 4053
        heart disease 2225
          cardiomyopathy 898
            intrinsic cardiomyopathy 567
              dilated cardiomyopathy 269
                dilated cardiomyopathy 1A 4
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