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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 16
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Accession:DOID:0110322 term browser browse the term
Definition:A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYOZ2 gene on chromosome 4q26. (DO)
Synonyms:exact_synonym: CMH16;   MYOZ2-RELATED CONDITION;   cardiomyopathy familial hypertrophic 16
 xref: MONDO:0013455;   OMIM:613838

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hypertrophic cardiomyopathy 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myoz2 myozenin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 16 | ClinVar Annotator: match by term: MYOZ2-related condition OMIM
ClinVar		 PMID:9536098 PMID:17347475 PMID:17434779 PMID:17576681 PMID:19472918 More... NCBI chrNW_004624867:5,947,671...5,987,804
Ensembl chrNW_004624867:5,947,521...5,989,426 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14092
    Developmental Disease 12278
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11507
        genetic disease 11196
          familial hypertrophic cardiomyopathy 125
            hypertrophic cardiomyopathy 16 1
Path 2
Term Annotations click to browse term
  disease 14092
    disease of anatomical entity 13771
      cardiovascular system disease 4080
        vascular disease 2868
          artery disease 1904
            aortic disease 730
              aortic valve disease 352
                aortic valve stenosis 330
                  subvalvular aortic stenosis 269
                    hypertrophic cardiomyopathy 267
                      familial hypertrophic cardiomyopathy 125
                        hypertrophic cardiomyopathy 16 1
paths to the root