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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 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        genetic disease 7613
          monogenic disease 5382
            autosomal genetic disease 4348
              autosomal dominant disease 2713
                distal myopathy 1 2
Path 2
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      nervous system disease 10752
        peripheral nervous system disease 2360
          neuropathy 2175
            neuromuscular disease 1707
              muscular disease 1121
                muscle tissue disease 759
                  myopathy 614
                    muscular dystrophy 305
                      distal myopathy 24
                        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.