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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 chr20:40,439,975...40,517,438 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15685
    Developmental Disease 13611
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12665
        genetic disease 12315
          familial hypertrophic cardiomyopathy 133
            hypertrophic cardiomyopathy 17 1
Path 2
Term Annotations click to browse term
  disease 15685
    disease of anatomical entity 15296
      cardiovascular system disease 4340
        vascular disease 3049
          artery disease 2014
            aortic disease 757
              aortic valve disease 366
                aortic valve stenosis 344
                  subvalvular aortic stenosis 283
                    hypertrophic cardiomyopathy 281
                      familial hypertrophic cardiomyopathy 133
                        hypertrophic cardiomyopathy 17 1
paths to the root