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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 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;   FHOD3-RELATED CONDITION;   familial hypertrophic cardiomyopathy 28
 primary_id: OMIM:619402


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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 | ClinVar Annotator: match by term: FHOD3-related condition OMIM
ClinVar		 PMID:24088304 PMID:25741868 PMID:28492532 PMID:30442288 PMID:30898215 More... NCBI chr18:15,993,079...16,425,796
Ensembl chr18:15,993,324...16,425,796 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          familial hypertrophic cardiomyopathy 135
            Hypertrophic Cardiomyopathy 28 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      cardiovascular system disease 5413
        vascular disease 4013
          artery disease 2825
            aortic disease 792
              aortic valve disease 379
                aortic valve stenosis 357
                  subvalvular aortic stenosis 294
                    hypertrophic cardiomyopathy 292
                      familial hypertrophic cardiomyopathy 135
                        Hypertrophic Cardiomyopathy 28 1
paths to the root