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;   CMD1AA CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 23, WITH OR WITHOUT VENTRICULAR
 narrow_synonym: CMH23;   NONCOMPACTION
 primary_id: MESH:C567407
 alt_id: OMIM:612158;   RDO:0015485
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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

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Path 1
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  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          dilated cardiomyopathy 1AA 3
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      cardiovascular system disease 4065
        heart disease 2230
          cardiomyopathy 899
            intrinsic cardiomyopathy 567
              dilated cardiomyopathy 270
                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.