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ONTOLOGY REPORT - ANNOTATIONS


Term:dilated cardiomyopathy 1DD
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Accession:DOID:0110447 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the RBM20 gene on chromosome 10q25. (DO)
Synonyms:exact_synonym: CMD1DD
 primary_id: MESH:C567725
 alt_id: OMIM:613172;   RDO:0015714
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dilated cardiomyopathy 1DD term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rbm20 RNA binding motif protein 20 JBrowse link 1 274,391,932 274,589,816 RGD:7240710
RGD:8554872
G Tnnt2 troponin T2, cardiac type JBrowse link 13 52,662,974 52,680,992 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      cardiovascular system disease 4358
        heart disease 2587
          Cardiomegaly 652
            dilated cardiomyopathy 286
              dilated cardiomyopathy 1DD 2
Path 2
Term Annotations click to browse term
  disease 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        genetic disease 7613
          monogenic disease 5382
            autosomal genetic disease 4348
              autosomal dominant disease 2713
                dilated cardiomyopathy 1DD 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.