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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 9
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Accession:DOID:0110315 term browser browse the term
Definition:A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. (DO)
Synonyms:exact_synonym: CMH9;   cardiomyopathy, familial hypertrophic, 9
 primary_id: MESH:C566044;   RDO:0014519
 alt_id: OMIM:613765


show annotations for term's descendants           Sort by:
hypertrophic cardiomyopathy 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 9 ClinVar PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 More... NCBI chr 9:15,484,639...15,496,116
Ensembl chr 9:15,297,531...15,496,090 		JBrowse link
G Ttn titin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 9		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:10462489 PMID:11310621 PMID:16084088 PMID:17344846 More... NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        genetic disease 13024
          familial hypertrophic cardiomyopathy 135
            hypertrophic cardiomyopathy 9 2
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      cardiovascular system disease 5412
        vascular disease 4014
          artery disease 2826
            aortic disease 792
              aortic valve disease 379
                aortic valve stenosis 357
                  subvalvular aortic stenosis 294
                    hypertrophic cardiomyopathy 292
                      familial hypertrophic cardiomyopathy 135
                        hypertrophic cardiomyopathy 9 2
paths to the root