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 Behavioral & Substance Use Disorder 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 2C
go back to main search page
Accession:DOID:0081159 term browser browse the term
Definition:A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has_material_basis_in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34. (DO)
Synonyms:exact_synonym: CMD2C;   PPCS-RELATED CONDITION
 alt_id: DOID:9006747
 xref: MIM:618189;   MONDO:0032592;   NCI:C186785


show annotations for term's descendants           Sort by:
dilated cardiomyopathy 2C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc30 coiled-coil domain containing 30 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2c | ClinVar Annotator: match by term: PPCS-related condition ClinVar PMID:25741868 PMID:28492532 PMID:29754768 PMID:35616428 PMID:38703036 NCBI chr 5:138,212,067...138,305,465
Ensembl chr 5:138,211,227...138,304,992 		JBrowse link
G Ppcs phosphopantothenoylcysteine synthetase ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2c | ClinVar Annotator: match by term: PPCS-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29754768 PMID:35616428 PMID:38703036 NCBI chr 5:138,308,394...138,312,047
Ensembl chr 5:138,308,397...138,312,012 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      thoracic disease 4057
        heart disease 3483
          Cardiomegaly 954
            dilated cardiomyopathy 549
              dilated cardiomyopathy 2C 2
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      respiratory system disease 5247
        thoracic disease 4057
          heart disease 3483
            cardiomyopathy 1441
              intrinsic cardiomyopathy 1027
                dilated cardiomyopathy 549
                  dilated cardiomyopathy 2C 2
paths to the root