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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 6 with fiber-type disproportion
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Accession:DOID:0111221 term browser browse the term
Definition:An autosomal recessive centronuclear myopathy that is characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZAK gene on 2q31.1. (DO)
Synonyms:exact_synonym: CNM6
 primary_id: OMIM:617760

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centronuclear myopathy 6 with fiber-type disproportion term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map3k20 mitogen-activated protein kinase kinase kinase 20 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 6, with fiber-type disproportion OMIM
ClinVar		 PMID:16760198 PMID:25741868 PMID:27816943 PMID:28492532 NCBI chrNW_004955449:1,976,186...2,139,044 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      congenital structural myopathy 128
        autosomal recessive centronuclear myopathy 13
          centronuclear myopathy 6 with fiber-type disproportion 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        peripheral nervous system disease 3824
          neuropathy 3643
            neuromuscular disease 2847
              muscular disease 2000
                muscle tissue disease 1199
                  myopathy 929
                    congenital myopathy 232
                      congenital structural myopathy 128
                        centronuclear myopathy 31
                          autosomal recessive centronuclear myopathy 13
                            centronuclear myopathy 6 with fiber-type disproportion 1
paths to the root