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dilated cardiomyopathy 2F - Ontology Report - Rat Genome Database

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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 2F
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Accession:DOID:0081162 term browser browse the term
Definition:A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has_material_basis_in homozygous mutation in the BAG5 gene on chromosome 14q32. (DO)
Synonyms:exact_synonym: CMD2F
 primary_id: MIM:619747
 alt_id: DOID:9000042

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dilated cardiomyopathy 2F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Bag5 BAG cochaperone 5 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2F OMIM
ClinVar		 PMID:25741868 PMID:35044787 NCBI chrNW_004624734:1,315,052...1,320,627 JBrowse link
G G BAG5 BAG cochaperone 5 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2F OMIM
ClinVar		 PMID:25741868 PMID:35044787 NCBI chr24:81,496,664...81,502,969 JBrowse link
G P BAG5 BAG cochaperone 5 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2F OMIM
ClinVar		 PMID:25741868 PMID:35044787
G S Bag5 BAG cochaperone 5 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2F OMIM
ClinVar		 PMID:25741868 PMID:35044787 NCBI chrNW_004936621:1,573,237...1,578,257
Ensembl chrNW_004936621:1,574,033...1,575,376 		JBrowse link
G D BAG5 BAG cochaperone 5 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2F OMIM
ClinVar		 PMID:25741868 PMID:35044787 NCBI chr 8:71,318,730...71,324,743
Ensembl chr 8:71,321,625...71,322,992 		JBrowse link
G B BAG5 BAG cochaperone 5 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2F OMIM
ClinVar		 PMID:25741868 PMID:35044787 NCBI chr14:84,182,879...84,189,180
Ensembl chr14:103,997,524...103,998,927 		JBrowse link
G C Bag5 BAG cochaperone 5 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2F OMIM
ClinVar		 PMID:25741868 PMID:35044787 NCBI chrNW_004955538:2,412,297...2,416,094
Ensembl chrNW_004955538:2,412,297...2,415,132 		JBrowse link
G R Bag5 BAG cochaperone 5 ISO
ISS		 ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2F
OMIM:619747		 OMIM
ClinVar
MouseDO		 PMID:25741868 PMID:35044787 NCBI chr 6:136,589,623...136,593,278
Ensembl chr 6:130,768,141...130,772,970 		JBrowse link
G M Bag5 BCL2-associated athanogene 5 ISO
IAGP		 ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2F
OMIM:619747		 OMIM
ClinVar
MouseDO		 PMID:25741868 PMID:35044787 NCBI chr12:111,675,922...111,679,690
Ensembl chr12:111,675,922...111,679,691 		JBrowse link
G H BAG5 BAG cochaperone 5 IAGP
ISS		 ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2F
OMIM:619747		 OMIM
ClinVar
MouseDO		 PMID:25741868 PMID:35044787 NCBI chr14:103,556,551...103,562,657
Ensembl chr14:103,556,545...103,562,657 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      thoracic disease 47582
        heart disease 40850
          Cardiomegaly 8568
            dilated cardiomyopathy 5458
              dilated cardiomyopathy 2F 10
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      respiratory system disease 65925
        thoracic disease 47582
          heart disease 40850
            cardiomyopathy 14211
              intrinsic cardiomyopathy 10417
                dilated cardiomyopathy 5458
                  dilated cardiomyopathy 2F 10
paths to the root