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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:FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 30, ATRIAL
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Accession:DOID:9007654 term browser browse the term
Definition:A disease characterized by atrial arrhythmias, including flutter and fibrillation, atrial structural abnormalities with hypertrophic cardiomyopathy and fibrosis, and hypertension. Caused by homozygous mutation in the CORIN gene on chromosome 4p12.
Synonyms:exact_synonym: CMH30
 primary_id: OMIM:620734


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FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 30, ATRIAL term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Corin corin, serine peptidase ISO ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 30, atrial OMIM
ClinVar		 PMID:25741868 PMID:37913506 NCBI chr14:35,680,601...35,910,703
Ensembl chr14:35,681,304...35,909,503 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          familial hypertrophic cardiomyopathy 135
            FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 30, ATRIAL 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      cardiovascular system disease 5412
        vascular disease 4012
          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
                        FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 30, ATRIAL 1
paths to the root