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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 9
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Accession:DOID:0110315 term browser browse the term
Definition:A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. (DO)
Synonyms:exact_synonym: CMH9;   cardiomyopathy, familial hypertrophic, 9
 primary_id: MESH:C566044;   RDO:0014519
 alt_id: OMIM:613765
For additional species annotation, visit the Alliance of Genome Resources.



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hypertrophic cardiomyopathy 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttn titin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 9
OMIM
CTD
ClinVar
PMID:10462489 PMID:18948003 PMID:22335739 PMID:23396983 PMID:23861362 More... NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          familial hypertrophic cardiomyopathy 104
            hypertrophic cardiomyopathy 9 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      cardiovascular system disease 4755
        vascular disease 3602
          artery disease 2516
            aortic disease 647
              aortic valve disease 310
                aortic valve stenosis 285
                  subvalvular aortic stenosis 234
                    hypertrophic cardiomyopathy 233
                      familial hypertrophic cardiomyopathy 104
                        hypertrophic cardiomyopathy 9 1
paths to the root