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ONTOLOGY REPORT - ANNOTATIONS


Term:myofibrillar myopathy 2
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Accession:DOID:0080093 term browser browse the term
Definition:A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23. (DO)
Synonyms:exact_synonym: Alpha-B Crystallinopathy;   MFM2;   Myopathy, Cardioskeletal, Desmin-Related, with Cataract;   Myopathy, Desmin-Related, associated with Mutation in the CRYAB Gene;   myofibrillar myopathy, alpha-B crystallin-related;   myofibrillar myopathy, with or without cataract and/or cardiomyopathy
 primary_id: MESH:C563848
 alt_id: OMIM:608810;   RDO:0013000
 xref: ORDO:399058
For additional species annotation, visit the Alliance of Genome Resources.


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myofibrillar myopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryab crystallin, alpha B JBrowse link 8 55,178,543 55,182,546 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      congenital structural myopathy 129
        myofibrillar myopathy 54
          myofibrillar myopathy 2 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        peripheral nervous system disease 2125
          neuropathy 1948
            neuromuscular disease 1520
              muscular disease 957
                muscle tissue disease 684
                  myopathy 549
                    congenital structural myopathy 129
                      myofibrillar myopathy 54
                        myofibrillar myopathy 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.