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 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
Advanced Search (OLGA)

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:Dilated Cardiomyopathy 2H
go back to main search page
Accession:DOID:9008315 term browser browse the term
Definition:An autosomal recessive disorder characterized by rapidly progressive dilated cardiomyopathy and death in early infancy. Caused by compound heterozygous mutation in the GET3 gene on chromosome 19p13.
Synonyms:exact_synonym: CMD2H
 primary_id: MIM:620203

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
Dilated Cardiomyopathy 2H term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GET3 guided entry of tail-anchored proteins factor 3, ATPase ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2H OMIM
ClinVar		 PMID:31461301 NCBI chr 6:11,426,857...11,437,343
Ensembl chr 6:11,426,787...11,437,119 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15415
    disease of anatomical entity 15079
      thoracic disease 3682
        heart disease 3145
          Cardiomegaly 811
            dilated cardiomyopathy 520
              Dilated Cardiomyopathy 2H 1
Path 2
Term Annotations click to browse term
  disease 15415
    disease of anatomical entity 15079
      respiratory system disease 4790
        thoracic disease 3682
          heart disease 3145
            cardiomyopathy 1325
              intrinsic cardiomyopathy 982
                dilated cardiomyopathy 520
                  Dilated Cardiomyopathy 2H 1
paths to the root