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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 14
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Accession:DOID:0110320 term browser browse the term
Definition:A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYH6 gene. (DO)
Synonyms:exact_synonym: CMH14;   cardiomyopathy familial hypertrophic 14
 primary_id: MESH:C567684
 alt_id: MIM:613251


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hypertrophic cardiomyopathy 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 ClinVar PMID:25741868 NCBI chr 4:34,367,155...34,421,992
Ensembl chr 4:34,364,025...34,421,509 		JBrowse link
G MIR208A microRNA mir-208a ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 ClinVar PMID:28492532 NCBI chr 8:3,636,919...3,636,987
Ensembl chr 8:3,636,919...3,636,987 		JBrowse link
G MIR208B microRNA mir-208b ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 ClinVar PMID:28492532 NCBI chr 8:3,665,163...3,665,236
Ensembl chr 8:3,665,163...3,665,236 		JBrowse link
G MYH6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 14 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 OMIM
ClinVar		 PMID:7731997 PMID:9172070 PMID:9536098 PMID:11815426 PMID:15735645 More...
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 14 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 ClinVar PMID:28492532 NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15606
    Developmental Disease 13488
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12520
        genetic disease 12171
          familial hypertrophic cardiomyopathy 137
            hypertrophic cardiomyopathy 14 5
Path 2
Term Annotations click to browse term
  disease 15606
    disease of anatomical entity 15201
      cardiovascular system disease 4426
        vascular disease 3122
          artery disease 2052
            aortic disease 777
              aortic valve disease 371
                aortic valve stenosis 349
                  subvalvular aortic stenosis 287
                    hypertrophic cardiomyopathy 285
                      familial hypertrophic cardiomyopathy 137
                        hypertrophic cardiomyopathy 14 5
paths to the root