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ONTOLOGY REPORT - ANNOTATIONS


Term:dilated cardiomyopathy 1J
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Accession:DOID:0110440 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.2. (DO)
Synonyms:exact_synonym: CMD1J;   Cardiomyopathy, Dilated, with Sensorineural Hearing Loss, Autosomal Dominant;   neurosensory deafness with dilated cardiomyopathy;   neurosensory hearing loss with dilated cardiomyopathy;   sensorineural deafness with dilated cardiomyopathy;   sensorineural hearing loss with dilated cardiomyopathy
 broad_synonym: EYA4-RELATED DISORDER;   EYA4-RELATED DISORDERS
 primary_id: MESH:C565337
 alt_id: OMIM:605362;   RDO:0014004
 xref: ORDO:217622
For additional species annotation, visit the Alliance of Genome Resources.


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dilated cardiomyopathy 1J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EYA4 EYA transcriptional coactivator and phosphatase 4 JBrowse link 6 133,240,340 133,532,128 RGD:8554872
RGD:7240710
G TARID TCF21 antisense RNA inducing promoter demethylation JBrowse link 6 133,502,252 133,889,006 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16438
    Developmental Diseases 10241
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8376
        genetic disease 7831
          monogenic disease 5156
            dilated cardiomyopathy 1J 2
Path 2
Term Annotations click to browse term
  disease 16438
    disease of anatomical entity 15414
      nervous system disease 11682
        sensory system disease 4896
          Otorhinolaryngologic Diseases 1162
            auditory system disease 746
              Hearing Disorders 604
                Hearing Loss 599
                  sensorineural hearing loss 490
                    dilated cardiomyopathy 1J 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.