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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: OMIM:613251


show annotations for term's descendants           Sort by:
hypertrophic cardiomyopathy 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LDB3 LIM domain binding 3 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 ClinVar PMID:25741868 NCBI chr10:86,666,788...86,736,072
Ensembl chr10:86,666,785...86,736,072 		JBrowse link
G LOC114827851 VISTA enhancer hs2155 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 14 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14		 ClinVar PMID:7731997 PMID:9172070 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr14:23,404,568...23,409,443 JBrowse link
G LOC126861896 BRD4-independent group 4 enhancer GRCh37_chr14:23854904-23856103 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 14 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14		 ClinVar PMID:9536098 PMID:17576681 PMID:23396983 PMID:23861362 PMID:24033266 More... NCBI chr14:23,385,695...23,386,894 JBrowse link
G LOC126861897 BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 ClinVar PMID:28492532 NCBI chr14:23,415,246...23,416,445 JBrowse link
G MHRT myosin heavy chain associated RNA transcript IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 ClinVar PMID:28492532 NCBI chr14:23,415,450...23,417,595 JBrowse link
G MIR208A microRNA 208a IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 ClinVar PMID:28492532 NCBI chr14:23,388,596...23,388,666
Ensembl chr14:23,388,596...23,388,666 		JBrowse link
G MIR208B microRNA 208b IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 ClinVar PMID:28492532 NCBI chr14:23,417,987...23,418,063
Ensembl chr14:23,417,987...23,418,063 		JBrowse link
G MYH6 myosin heavy chain 6 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 14 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14
OMIM:613251
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:7731997 PMID:9172070 PMID:9536098 PMID:11815426 PMID:15735645 More... NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 ClinVar PMID:28492532 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35753
    Developmental Disease 28609
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 24645
        genetic disease 23839
          familial hypertrophic cardiomyopathy 193
            hypertrophic cardiomyopathy 14 9
Path 2
Term Annotations click to browse term
  disease 35753
    disease of anatomical entity 32492
      cardiovascular system disease 6078
        vascular disease 3863
          artery disease 2586
            aortic disease 1077
              aortic valve disease 588
                aortic valve stenosis 547
                  subvalvular aortic stenosis 375
                    hypertrophic cardiomyopathy 373
                      familial hypertrophic cardiomyopathy 193
                        hypertrophic cardiomyopathy 14 9
paths to the root