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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 3
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Accession:DOID:0110309 term browser browse the term
Definition:A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the alpha-tropomyosin gene (TPM1) on chromosome 15q22. (DO)
Synonyms:exact_synonym: CMH3;   cardiomyopathy familial hypertrophic 3
 broad_synonym: TPM1-RELATED CONDITION
 primary_id: MESH:C566170
 alt_id: MIM:115196


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hypertrophic cardiomyopathy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpm1 tropomyosin 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:115196
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 3 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 3		 OMIM
CTD
MouseDO
ClinVar		 PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More... NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13711
        genetic disease 13376
          familial hypertrophic cardiomyopathy 138
            hypertrophic cardiomyopathy 3 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      cardiovascular system disease 5544
        vascular disease 4024
          artery disease 2858
            aortic disease 817
              aortic valve disease 387
                aortic valve stenosis 365
                  subvalvular aortic stenosis 302
                    hypertrophic cardiomyopathy 300
                      familial hypertrophic cardiomyopathy 138
                        hypertrophic cardiomyopathy 3 1
paths to the root