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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 27
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Accession:DOID:9009188 term browser browse the term
Definition:A severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. (OMIM)
Synonyms:exact_synonym: CMH27;   familial hypertrophic cardiomyopathy 27
 primary_id: OMIM:618052
For additional species annotation, visit the Alliance of Genome Resources.



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Hypertrophic Cardiomyopathy 27 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpk3 alpha-kinase 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic 27 OMIM
ClinVar
PMID:21441111 PMID:25741868 PMID:26846950 PMID:27106955 PMID:28492532 More... NCBI chr 1:135,014,455...135,062,294
Ensembl chr 1:135,014,499...135,062,302
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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 27 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 27 1
paths to the root