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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 17
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Accession:DOID:0110323 term browser browse the term
Definition:A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12. (DO)
Synonyms:exact_synonym: CMH17;   cardiomyopathy familial hypertrophic 17
 broad_synonym: JPH2-RELATED CONDITION
 primary_id: OMIM:613873


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hypertrophic cardiomyopathy 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JPH2 junctophilin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 17 | ClinVar Annotator: match by term: JPH2-related condition OMIM
ClinVar		 PMID:17476457 PMID:17509612 PMID:22389502 PMID:22584458 PMID:23757202 More... NCBI chr24:31,664,106...31,674,487
Ensembl chr24:31,665,771...31,687,228 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    Developmental Disease 13502
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12545
        genetic disease 12201
          familial hypertrophic cardiomyopathy 136
            hypertrophic cardiomyopathy 17 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 15182
      cardiovascular system disease 4416
        vascular disease 3110
          artery disease 2048
            aortic disease 773
              aortic valve disease 371
                aortic valve stenosis 349
                  subvalvular aortic stenosis 287
                    hypertrophic cardiomyopathy 285
                      familial hypertrophic cardiomyopathy 136
                        hypertrophic cardiomyopathy 17 1
paths to the root