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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 14927
      cardiovascular system disease 4229
        heart disease 2342
          Cardiomegaly 623
            dilated cardiomyopathy 265
              dilated cardiomyopathy 1A 4
Path 2
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        genetic disease 6997
          monogenic disease 4558
            autosomal genetic disease 3509
              autosomal dominant disease 2076
                dilated cardiomyopathy 1A 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.