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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 1
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Accession:DOID:0111223 term browser browse the term
Definition:An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2. (DO)
Synonyms:exact_synonym: CNM1;   centronuclear myopathy, dominant
 related_synonym: CNM3;   centronuclear myopathy 3
 primary_id: OMIM:160150
 xref: NCI:C126689


show annotations for term's descendants           Sort by:
centronuclear myopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, centronuclear, 1 OMIM
ClinVar		 PMID:2734399 PMID:16227997 PMID:17008356 PMID:17825552 PMID:18414213 More... NCBI chr20:50,398,866...50,487,303
Ensembl chr20:50,398,864...50,487,241 		JBrowse link
G MTMR14 myotubularin related protein 14 ISO OMIM NCBI chr20:8,530,682...8,576,911
Ensembl chr20:8,530,711...8,576,913 		JBrowse link
G MYF6 myogenic factor 6 ISO ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, centronuclear, 1 | ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:11053684 PMID:25741868 PMID:28492532 NCBI chr15:23,039,090...23,041,092
Ensembl chr15:23,039,416...23,041,019 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      congenital structural myopathy 132
        centronuclear myopathy 1 3
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        peripheral nervous system disease 4038
          neuropathy 3843
            neuromuscular disease 3017
              muscular disease 2130
                muscle tissue disease 1287
                  myopathy 1000
                    congenital myopathy 240
                      congenital structural myopathy 132
                        centronuclear myopathy 32
                          autosomal dominant centronuclear myopathy 10
                            centronuclear myopathy 1 3
paths to the root