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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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;   dilated cardiomyopathy 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
 xref: ORDO:217622


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    Developmental Disease 18391
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18246
        genetic disease 18183
          monogenic disease 10160
            dilated cardiomyopathy 1J 1
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      nervous system disease 13996
        Neurologic Manifestations 9941
          sensory system disease 6836
            Otorhinolaryngologic Diseases 1778
              auditory system disease 1041
                Hearing Disorders 776
                  Hearing Loss 773
                    sensorineural hearing loss 588
                      dilated cardiomyopathy 1J 1
paths to the root