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 26
go back to main search page
Accession:DOID:0110327 term browser browse the term
Definition:A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32. (DO)
Synonyms:exact_synonym: CMH26;   familial hypertrophic cardiomyopathy 26
 narrow_synonym: RCM5;   familial restrictive cardiomyopathy 5
 related_synonym: familial cardiomyopathy of the hypertrophic
 primary_id: OMIM:617047
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
hypertrophic cardiomyopathy 26 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnc filamin C ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 26 | ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 5 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21520333 PMID:25179549 More... NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844
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 26 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 26 1
paths to the root