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:hypertrophic cardiomyopathy 25
go back to main search page
Accession:DOID:0110328 term browser browse the term
Definition:A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TCAP gene on chromosome 17q12. (DO)
Synonyms:exact_synonym: CMH25;   Cardiomyopathy, Dilated, 1N;   cardiomyopathy familial hypertrophic 25
 primary_id: MESH:C564388;   RDO:0013370
 alt_id: OMIM:607487
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
hypertrophic cardiomyopathy 25 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcap titin-cap ISO ClinVar Annotator: match by OMIM:607487
ClinVar Annotator: match by term: Dilated cardiomyopathy 1N
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25
OMIM
ClinVar
PMID:10655062, PMID:12507422, PMID:15582318, PMID:16352453, PMID:16911908, PMID:17097056, PMID:18408010, PMID:18414213, PMID:18585512, PMID:19035361, PMID:19412328, PMID:20215591, PMID:20474083, PMID:21520333, PMID:21959314, PMID:22194935, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24037902, PMID:24503780, PMID:25055047, PMID:25326637, PMID:25741868, PMID:26084686, PMID:26332198, PMID:26350513, PMID:26467025, PMID:27066551, PMID:27532257, PMID:28492532, PMID:29797799, PMID:30311386, PMID:30871747 NCBI chr10:86,337,705...86,338,414
Ensembl chr10:86,337,728...86,338,411
JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1N ClinVar PMID:3144325, PMID:9241277, PMID:10806205, PMID:11735257, PMID:12707239, PMID:12860912, PMID:15607392, PMID:15698845, PMID:15992656, PMID:16020591, PMID:16199542, PMID:16352453, PMID:20641121, PMID:21511876, PMID:21533915, PMID:22876777, PMID:23270746, PMID:23283745, PMID:23610579, PMID:23967088, PMID:24033266, PMID:24111713, PMID:24113344, PMID:24510615, PMID:25132132, PMID:25228707, PMID:25351510, PMID:25524337, PMID:25741868, PMID:25940119, PMID:27532257, PMID:27600940, PMID:28138913, PMID:28166811, PMID:28193612, PMID:28492532, PMID:28771489, PMID:28790153 NCBI chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          familial hypertrophic cardiomyopathy 89
            hypertrophic cardiomyopathy 25 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      cardiovascular system disease 4454
        vascular disease 3386
          artery disease 2372
            aortic disease 611
              aortic valve disease 309
                aortic valve stenosis 285
                  subvalvular aortic stenosis 228
                    hypertrophic cardiomyopathy 223
                      familial hypertrophic cardiomyopathy 89
                        hypertrophic cardiomyopathy 25 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.