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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
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
dilated cardiomyopathy 1J term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by OMIM:605362
ClinVar Annotator: match by term: Dilated cardiomyopathy 1J
OMIM
ClinVar
PMID:9536098 PMID:10769282 PMID:11159937 PMID:15735644 PMID:16199547 More... NCBI chr 1:22,172,275...22,415,978
Ensembl chr 1:22,172,275...22,415,976
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    Developmental Disease 10942
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9477
        genetic disease 8979
          monogenic disease 7140
            dilated cardiomyopathy 1J 1
Path 2
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      nervous system disease 12115
        sensory system disease 5615
          Otorhinolaryngologic Diseases 1344
            auditory system disease 909
              Hearing Disorders 739
                Hearing Loss 735
                  sensorineural hearing loss 606
                    dilated cardiomyopathy 1J 1
paths to the root