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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 1BB
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Accession:DOID:0110458 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation the DSG2 gene on chromosome 18q12.1. (DO)
Synonyms:exact_synonym: CMD1BB;   familial isolated dilated cardiomyopathy
 primary_id: MESH:C567877
 alt_id: OMIM:612877
For additional species annotation, visit the Alliance of Genome Resources.



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dilated cardiomyopathy 1BB term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1BB
ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy
OMIM
ClinVar
PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy ClinVar PMID:11684629 PMID:12923187 PMID:14654368 PMID:15623536 PMID:15769782 More... NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    Developmental Disease 10968
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9504
        genetic disease 9008
          monogenic disease 7172
            dilated cardiomyopathy 1BB 2
Path 2
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      cardiovascular system disease 4517
        heart disease 2697
          cardiomyopathy 1099
            intrinsic cardiomyopathy 739
              dilated cardiomyopathy 301
                dilated cardiomyopathy 1BB 2
paths to the root