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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:hypertrophic cardiomyopathy 25
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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:9536098 PMID:10655062 PMID:12507422 PMID:15582318 PMID:16352453 More... NCBI chr10:83,381,719...83,382,887
Ensembl chr10:83,381,719...83,382,887
JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 ClinVar PMID:16247757 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727
JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25
ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1N
ClinVar PMID:3144325 PMID:9241277 PMID:10806205 PMID:11735257 PMID:12707239 More... NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9666
        genetic disease 9072
          familial hypertrophic cardiomyopathy 90
            hypertrophic cardiomyopathy 25 3
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      cardiovascular system disease 4539
        vascular disease 3458
          artery disease 2420
            aortic disease 619
              aortic valve disease 294
                aortic valve stenosis 269
                  subvalvular aortic stenosis 218
                    hypertrophic cardiomyopathy 217
                      familial hypertrophic cardiomyopathy 90
                        hypertrophic cardiomyopathy 25 3
paths to the root