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RGD uses the Human Disease Ontology (DO, 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 28
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Accession:DOID:9005789 term browser browse the term
Definition:Characterized by asymmetric septal hypertrophy, atrial fibrillation and nonsustained ventricular tachycardia, and risk of sudden death. Caused by heterozygous mutation in the FHOD3 gene on chromosome 18q12. (OMIM)
Synonyms:exact_synonym: CMH28;   familial hypertrophic cardiomyopathy 28
 primary_id: OMIM:619402
For additional species annotation, visit the Alliance of Genome Resources.

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Hypertrophic Cardiomyopathy 28 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fhod3 formin homology 2 domain containing 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 28 OMIM
PMID:30442288 PMID:31742804 PMID:32335906 NCBI chr18:15,993,079...16,425,796
Ensembl chr18:15,993,324...16,425,796
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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 28 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 28 1
paths to the root