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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 15
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Accession:DOID:0110321 term browser browse the term
Definition:A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the vinculin gene (VCL) on chromosome 10q22. (DO)
Synonyms:exact_synonym: CMH15;   cardiomyopathy familial hypertrophic 15
 broad_synonym: VCL-RELATED CONDITION
 primary_id: MESH:C567681
 alt_id: OMIM:613255


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hypertrophic cardiomyopathy 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vcl vinculin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 15 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 15 | ClinVar Annotator: match by term: VCL-related condition		 OMIM
CTD
ClinVar		 PMID:11815424 PMID:16236538 PMID:16712796 PMID:16949038 PMID:17097056 More... NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606 		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 15 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 0
      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 15 1
paths to the root