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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 CONDITION;   EYA4-related disorder;   EYA4-related disorders
 primary_id: MESH:C565337
 alt_id: MIM:605362
 xref: ORDO:217622


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Dilated cardiomyopathy 1J | ClinVar Annotator: match by term: EYA4-related condition | ClinVar Annotator: match by term: EYA4-related disorder		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:10769282 PMID:11159937 PMID:15735644 PMID:16199547 More... NCBI chr 1:23,991,431...24,235,132
Ensembl chr 1:22,172,275...22,415,976 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10964
            dilated cardiomyopathy 1J 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        Neurologic Manifestations 10464
          sensory system disease 7381
            Otorhinolaryngologic Diseases 1798
              auditory system disease 1064
                Hearing Disorders 848
                  Hearing Loss 843
                    sensorineural hearing loss 647
                      dilated cardiomyopathy 1J 1
paths to the root