Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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 17
go back to main search page
Accession:DOID:0110323 term browser browse the term
Definition:A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12. (DO)
Synonyms:exact_synonym: CMH17;   cardiomyopathy familial hypertrophic 17
 broad_synonym: JPH2-RELATED CONDITION
 primary_id: OMIM:613873

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
hypertrophic cardiomyopathy 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 17 | ClinVar Annotator: match by term: JPH2-related condition OMIM
ClinVar		 PMID:17476457 PMID:17509612 PMID:22389502 PMID:22584458 PMID:23757202 More... NCBI chrNW_004624790:10,250,403...10,320,279
Ensembl chrNW_004624790:10,250,472...10,319,110 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14089
    Developmental Disease 12291
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11532
        genetic disease 11224
          familial hypertrophic cardiomyopathy 124
            hypertrophic cardiomyopathy 17 1
Path 2
Term Annotations click to browse term
  disease 14089
    disease of anatomical entity 13754
      cardiovascular system disease 4069
        vascular disease 2856
          artery disease 1900
            aortic disease 726
              aortic valve disease 352
                aortic valve stenosis 330
                  subvalvular aortic stenosis 269
                    hypertrophic cardiomyopathy 267
                      familial hypertrophic cardiomyopathy 124
                        hypertrophic cardiomyopathy 17 1
paths to the root