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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
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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 1 23,237,617 23,611,580 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        genetic disease 7612
          monogenic disease 5382
            dilated cardiomyopathy 1J 1
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        sensory system disease 4969
          Otorhinolaryngologic Diseases 1119
            auditory system disease 713
              Hearing Disorders 577
                Hearing Loss 573
                  sensorineural hearing loss 468
                    dilated cardiomyopathy 1J 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.