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:centronuclear myopathy 4
go back to main search page
Accession:DOID:0111224 term browser browse the term
Definition:An autosomal dominant centronuclear myopathy that has_material_basis_in heterozygous mutation in CCDC78 on 16p13.3. (DO)
Synonyms:exact_synonym: CNM4
 primary_id: OMIM:614807


show annotations for term's descendants           Sort by:
centronuclear myopathy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc78 coiled-coil domain containing 78 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 4 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22818856 More... NCBI chr17:26,005,554...26,009,487
Ensembl chr17:26,005,554...26,009,487 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    Developmental Disease 17910
      congenital structural myopathy 133
        centronuclear myopathy 4 1
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      nervous system disease 13500
        peripheral nervous system disease 4111
          neuropathy 3911
            neuromuscular disease 3075
              muscular disease 2167
                muscle tissue disease 1313
                  myopathy 1029
                    congenital myopathy 241
                      congenital structural myopathy 133
                        centronuclear myopathy 31
                          autosomal dominant centronuclear myopathy 10
                            centronuclear myopathy 4 1
paths to the root