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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 2
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Accession:DOID:0110308 term browser browse the term
Definition:A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the cardiac troponin-T2 gene (TNNT2). (DO)
Synonyms:exact_synonym: CMH2;   cardiomyopathy familial hypertrophic 2
 primary_id: MESH:C566171
 alt_id: OMIM:115195


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hypertrophic cardiomyopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnnt2 troponin T2, cardiac ISO
IAGP		 CTD Direct Evidence: marker/mechanism
OMIM:115195
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 2 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2		 OMIM
CTD
MouseDO
ClinVar		 PMID:181617 PMID:209243 PMID:209262 PMID:541918 PMID:936231 More... NCBI chr 1:135,763,933...135,780,006
Ensembl chr 1:135,764,092...135,779,998 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16106
    Developmental Disease 13806
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12831
        genetic disease 12479
          familial hypertrophic cardiomyopathy 138
            hypertrophic cardiomyopathy 2 1
Path 2
Term Annotations click to browse term
  disease 16106
    disease of anatomical entity 15662
      cardiovascular system disease 4567
        vascular disease 3242
          artery disease 2112
            aortic disease 788
              aortic valve disease 379
                aortic valve stenosis 357
                  subvalvular aortic stenosis 294
                    hypertrophic cardiomyopathy 292
                      familial hypertrophic cardiomyopathy 138
                        hypertrophic cardiomyopathy 2 1
paths to the root