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 1M
go back to main search page
Accession:DOID:0110449 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the CSRP3 gene on chromosome 11p15. (DO)
Synonyms:exact_synonym: CMD1M
 primary_id: MESH:C564390
 alt_id: OMIM:607482
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
dilated cardiomyopathy 1M term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSRP3 cysteine and glycine rich protein 3 ISO OMIM NCBI chr11:19,208,025...19,228,000
Ensembl chr11:19,121,234...19,140,820
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12751
    Developmental Diseases 9009
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7844
        genetic disease 7395
          monogenic disease 5466
            dilated cardiomyopathy 1M 1
Path 2
Term Annotations click to browse term
  disease 12751
    disease of anatomical entity 12281
      cardiovascular system disease 3301
        heart disease 2338
          cardiomyopathy 966
            intrinsic cardiomyopathy 671
              dilated cardiomyopathy 255
                dilated cardiomyopathy 1M 1
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.