Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  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:hypertrophic cardiomyopathy 17
go back to main search page
Accession:DOID:0110323 term browser browse the term
Definition:A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12. (DO)
Synonyms:exact_synonym: CMH17;   cardiomyopathy familial hypertrophic 17
 primary_id: OMIM:613873;   RDO:9000211
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
hypertrophic cardiomyopathy 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 17 OMIM
ClinVar
PMID:17476457 PMID:17509612 PMID:22389502 PMID:23757202 PMID:23861362 More... NCBI chr 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          familial hypertrophic cardiomyopathy 104
            hypertrophic cardiomyopathy 17 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      cardiovascular system disease 4755
        vascular disease 3602
          artery disease 2516
            aortic disease 647
              aortic valve disease 310
                aortic valve stenosis 285
                  subvalvular aortic stenosis 234
                    hypertrophic cardiomyopathy 233
                      familial hypertrophic cardiomyopathy 104
                        hypertrophic cardiomyopathy 17 1
paths to the root