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ONTOLOGY REPORT - ANNOTATIONS


Term:distal myopathy 1
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Accession:DOID:0070197 term browser browse the term
Definition:A distal muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11. (DO)
Synonyms:exact_synonym: Gowers disease;   Laing distal myopathy;   Laing early-onset distal myopathy;   MPD1;   distal 1 myopathies;   distal myopathy type 1
 primary_id: OMIM:160500
 alt_id: OMIA:001200
 xref: GARD:10769;   ORDO:59135
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distal myopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          distal myopathy 1 2
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        peripheral nervous system disease 2004
          neuropathy 1820
            neuromuscular disease 1392
              muscular disease 887
                muscle tissue disease 613
                  myopathy 494
                    muscular dystrophy 223
                      distal myopathy 26
                        distal myopathy 1 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.