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ONTOLOGY REPORT - ANNOTATIONS


Term:dilated cardiomyopathy 1AA
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Accession:DOID:0110428 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the ACTN2 gene on chromosome 1q43. (DO)
Synonyms:exact_synonym: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION;   CMD1AA
 narrow_synonym: CMH23;   familial hypertrophic cardiomyopathy 23;   familial hypertrophic cardiomyopathy 23 with or without ventricular noncompaction
 primary_id: MESH:C567407
 alt_id: OMIM:612158;   RDO:0015485;   RDO:9000521
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dilated cardiomyopathy 1AA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actn2 actinin alpha 2 JBrowse link 17 66,304,530 66,397,647 RGD:7240710
RGD:8554872
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 17 66,210,444 66,295,014 RGD:8554872
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 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 1AA 3
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 1AA 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.