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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive hyaline body myopathy
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Accession:DOID:0111268 term browser browse the term
Definition:A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2. (DO)
Synonyms:exact_synonym: MSMB;   autosomal recessive myosin storage myopathy
 primary_id: MESH:C564970
 alt_id: OMIM:255160;   RDO:0013748
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autosomal recessive hyaline body myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15625
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          monogenic disease 4656
            autosomal genetic disease 3617
              autosomal recessive disease 2056
                autosomal recessive hyaline body myopathy 1
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        peripheral nervous system disease 2126
          neuropathy 1949
            neuromuscular disease 1521
              muscular disease 958
                muscle tissue disease 685
                  myopathy 551
                    congenital myopathy 28
                      hyaline body myopathy 2
                        autosomal recessive hyaline body myopathy 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.