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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 29
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Accession:DOID:9009148 term browser browse the term
Definition:A disease characterized by recurrent syncope, dyspnea on exertion, and palpitations. Caused by homozygous mutation in the KLHL24 gene on chromosome 3q27.
Synonyms:exact_synonym: CMH29;   familial hypertrophic cardiomyopathy 29, with polyglucosan bodies
 primary_id: OMIM:620236


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Hypertrophic Cardiomyopathy 29 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl24 kelch-like family member 24 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies OMIM
ClinVar		 PMID:30715372 NCBI chr11:80,843,621...80,877,649
Ensembl chr11:80,846,755...80,877,636 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18307
        genetic disease 18251
          familial hypertrophic cardiomyopathy 136
            Hypertrophic Cardiomyopathy 29 1
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      cardiovascular system disease 5408
        vascular disease 4008
          artery disease 2822
            aortic disease 791
              aortic valve disease 379
                aortic valve stenosis 357
                  subvalvular aortic stenosis 294
                    hypertrophic cardiomyopathy 292
                      familial hypertrophic cardiomyopathy 136
                        Hypertrophic Cardiomyopathy 29 1
paths to the root