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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 20
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Accession:DOID:0110326 term browser browse the term
Definition:A familial hypertrophic cardiomyopathy that hhas_material_basis_in heterozygous mutation in the NEXN gene on chromosome 1p31.1. (DO)
Synonyms:exact_synonym: CMH20;   cardiomyopathy familial hypertrophic 20
 primary_id: OMIM:613876;   RDO:9000214
For additional species annotation, visit the Alliance of Genome Resources.



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hypertrophic cardiomyopathy 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 20 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 20 OMIM
ClinVar
PMID:19881492 PMID:20970104 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342
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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 20 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 20 1
paths to the root