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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


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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: CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 2 | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 10 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 10
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:203862 PMID:08673105 PMID:09535554 PMID:9536098 PMID:9673982 More... NCBI chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          familial hypertrophic cardiomyopathy 135
            hypertrophic cardiomyopathy 10 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      cardiovascular system disease 5412
        vascular disease 4012
          artery disease 2825
            aortic disease 792
              aortic valve disease 379
                aortic valve stenosis 357
                  subvalvular aortic stenosis 294
                    hypertrophic cardiomyopathy 292
                      familial hypertrophic cardiomyopathy 135
                        hypertrophic cardiomyopathy 10 1
paths to the root