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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:centronuclear myopathy 4
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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 chr10:14,808,355...14,812,284
Ensembl chr10:14,807,710...14,812,282
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    physical disorder 4193
      congenital structural myopathy 170
        centronuclear myopathy 4 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        peripheral nervous system disease 3019
          neuropathy 2805
            neuromuscular disease 2223
              muscular disease 1453
                muscle tissue disease 950
                  myopathy 779
                    centronuclear myopathy 30
                      autosomal dominant centronuclear myopathy 9
                        centronuclear myopathy 4 1
paths to the root