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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:congenital myopathy 6
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Accession:DOID:0080719 term browser browse the term
Definition:A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13. (DO)
Synonyms:exact_synonym: CMYP6;   IBM3;   INCLUSION BODY MYOPATHY, DOMINANT;   MYPOP;   congenital myopathy 6 with ophthalmoplegia;   hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome;   inclusion body myopathy 3;   inclusion body myopathy 3, autosomal dominant;   inclusion body myopathy, autosomal dominant;   myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles;   proximal myopathy and ophthalmoplegia
 primary_id: OMIM:605637
 alt_id: MESH:C538330;   MESH:C565311
 xref: GARD:9494;   ORDO:79091


show annotations for term's descendants           Sort by:
congenital myopathy 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029 		JBrowse link
G Gas7 growth arrest specific 7 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:52,152,718...52,383,283
Ensembl chr10:52,152,493...52,383,276 		JBrowse link
G Glp2r glucagon-like peptide 2 receptor ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:52,402,748...52,466,012
Ensembl chr10:52,402,748...52,466,012 		JBrowse link
G Myh1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:51,885,913...51,909,699
Ensembl chr10:51,885,913...51,946,295 		JBrowse link
G Myh13 myosin heavy chain 13 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:52,012,779...52,068,960
Ensembl chr10:52,009,425...52,068,951 		JBrowse link
G Myh2 myosin heavy chain 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:11114175 PMID:11889243 PMID:15548556 PMID:15741996 More... NCBI chr10:51,856,738...51,883,236
Ensembl chr10:51,856,738...51,883,236 		JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
G Myh4 myosin heavy chain 4 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:51,923,149...51,946,297
Ensembl chr10:51,885,913...51,946,295 		JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232 		JBrowse link
G Rcvrn recoverin ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:52,388,706...52,396,454
Ensembl chr10:52,388,706...52,396,453 		JBrowse link
G Sco1 synthesis of cytochrome C oxidase 1 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:51,744,656...51,757,246
Ensembl chr10:51,744,656...51,757,237 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      musculoskeletal system disease 8304
        muscular disease 2147
          Contracture 136
            congenital myopathy 6 12
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        peripheral nervous system disease 4123
          neuropathy 3906
            neuromuscular disease 3058
              muscular disease 2147
                muscle tissue disease 1293
                  myopathy 1007
                    myositis 88
                      inclusion body myositis 30
                        congenital myopathy 6 12
paths to the root