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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

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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 chrNW_004955442:16,478,219...16,482,452
Ensembl chrNW_004955442:16,478,795...16,482,263 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      congenital structural myopathy 128
        centronuclear myopathy 4 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        peripheral nervous system disease 3827
          neuropathy 3646
            neuromuscular disease 2848
              muscular disease 2001
                muscle tissue disease 1200
                  myopathy 930
                    congenital myopathy 232
                      congenital structural myopathy 128
                        centronuclear myopathy 31
                          autosomal dominant centronuclear myopathy 10
                            centronuclear myopathy 4 1
paths to the root