Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
dilated cardiomyopathy 1BB term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSG2 desmoglein 2 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1BB
ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy
ClinVar
OMIM
PMID:17105751, PMID:18678517, PMID:19039334, PMID:20031616, PMID:20031617, PMID:20716751, PMID:20864495, PMID:21606390, PMID:23810883, PMID:23861362, PMID:24033266, PMID:24055113, PMID:25741868, PMID:28492532, PMID:29178656 NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,498,177...31,549,008
JBrowse link
G DSG2-AS1 DSG2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1BB ClinVar NCBI chr18:31,542,146...31,556,911
Ensembl chr18:31,542,146...31,556,948
JBrowse link
G TNNT2 troponin T2, cardiac type IAGP ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy ClinVar PMID:11684629, PMID:12923187, PMID:14654368, PMID:15623536, PMID:15769782, PMID:15923195, PMID:17932326, PMID:18349139, PMID:18506004, PMID:18606313, PMID:19253838, PMID:21846512, PMID:22675533, PMID:23539503, PMID:24033266, PMID:24367593, PMID:24992688, PMID:25741868, PMID:26656454, PMID:28492532 NCBI chr 1:201,359,014...201,377,828
Ensembl chr 1:201,359,008...201,377,764
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18836
    Developmental Diseases 12131
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9981
        genetic disease 9460
          monogenic disease 6898
            dilated cardiomyopathy 1BB 3
Path 2
Term Annotations click to browse term
  disease 18836
    disease of anatomical entity 17322
      cardiovascular system disease 3913
        heart disease 2779
          cardiomyopathy 1176
            intrinsic cardiomyopathy 812
              dilated cardiomyopathy 337
                dilated cardiomyopathy 1BB 3
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.