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 1DD
go back to main search page
Accession:DOID:0110447 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the RBM20 gene on chromosome 10q25. (DO)
Synonyms:exact_synonym: CMD1DD
 primary_id: MESH:C567725
 alt_id: OMIM:613172;   RDO:0015714
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
dilated cardiomyopathy 1DD term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by OMIM:613172
ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD
OMIM
ClinVar
PMID:2204663, PMID:18585512, PMID:19712804, PMID:20590677, PMID:21483645, PMID:22004663, PMID:22466703, PMID:22561820, PMID:23396983, PMID:23861363, PMID:23886709, PMID:24033266, PMID:24503780, PMID:24584570, PMID:25351510, PMID:25637381, PMID:25741868, PMID:26084686, PMID:26272908, PMID:26458567, PMID:26498160, PMID:26604136, PMID:26656175, PMID:27296017, PMID:27496873, PMID:27532257, PMID:27896284, PMID:28087566, PMID:28416588, PMID:28492532, PMID:28704380, PMID:28798025, PMID:29029073, PMID:29247119, PMID:29367541, PMID:29447731, PMID:29517769, PMID:29540472, PMID:29650543, PMID:29895960, PMID:30311386, PMID:30557877, PMID:30775854, PMID:30871351 NCBI chr 1:274,391,932...274,589,816
Ensembl chr 1:274,391,932...274,589,816
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD ClinVar PMID:15358028, PMID:19754353, PMID:21310275, PMID:24033266, PMID:24992688, PMID:25741868, PMID:27153395, PMID:27532257, PMID:28492532, PMID:28973951 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
    disease of anatomical entity 15292
      cardiovascular system disease 4445
        heart disease 2665
          Cardiomegaly 668
            dilated cardiomyopathy 298
              dilated cardiomyopathy 1DD 2
Path 2
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
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                dilated cardiomyopathy 1DD 2
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.