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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 19
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Accession:DOID:9001172 term browser browse the term
Synonyms:exact_synonym: CMH19;   cardiomyopathy familial hypertrophic 19
For additional species annotation, visit the Alliance of Genome Resources.



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FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calr3 calreticulin 3 ISO ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 19 ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr16:17,396,064...17,423,166
Ensembl chr16:17,396,247...17,423,015
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          familial hypertrophic cardiomyopathy 104
            FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      cardiovascular system disease 4822
        vascular disease 3604
          artery disease 2518
            aortic disease 647
              aortic valve disease 310
                aortic valve stenosis 285
                  subvalvular aortic stenosis 234
                    hypertrophic cardiomyopathy 233
                      familial hypertrophic cardiomyopathy 104
                        FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19 1
paths to the root