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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: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 chr18:15,579,322...15,637,720
Ensembl chr18:15,579,315...15,637,715
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, 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 chr13:52,662,974...52,680,992
Ensembl chr13:52,662,996...52,680,990
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            dilated cardiomyopathy 1BB 2
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      cardiovascular system disease 4445
        heart disease 2665
          cardiomyopathy 1086
            intrinsic cardiomyopathy 736
              dilated cardiomyopathy 298
                dilated cardiomyopathy 1BB 2
paths to the root

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