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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 1HH
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Accession:DOID:0110448 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the BAG3 gene on chromosome 10q26.11. (DO)
Synonyms:exact_synonym: CMD1HH
 broad_synonym: BAG3-RELATED CONDITION
 primary_id: OMIM:613881
 alt_id: RDO:9000821
 xref: NCI:C192082


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dilated cardiomyopathy 1HH term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag3 BAG cochaperone 3 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:613881
ClinVar Annotator: match by term: Dilated cardiomyopathy 1HH		 OMIM
CTD
MouseDO
ClinVar		 PMID:2159883 PMID:9536098 PMID:17576681 PMID:19085932 PMID:20301672 More... NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      cardiovascular system disease 5412
        heart disease 3329
          Cardiomegaly 869
            dilated cardiomyopathy 463
              dilated cardiomyopathy 1HH 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                dilated cardiomyopathy 1HH 1
paths to the root