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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 10
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Accession:DOID:0110316 term browser browse the term
Definition:A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYL2 gene. (DO)
Synonyms:exact_synonym: CMH10;   Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 2;   FAMILIAL ISOLATED RESTRICTIVE CARDIOMYOPATHY;   familial hypertrophic cardiomyopathy 10
 primary_id: MESH:C563865
 alt_id: OMIM:608758
For additional species annotation, visit the Alliance of Genome Resources.



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hypertrophic cardiomyopathy 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 10 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 10 OMIM
ClinVar
PMID:678511 PMID:4942892 PMID:08673105 PMID:09535554 PMID:9536098 More... NCBI chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983
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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 10 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 10 1
paths to the root