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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant hyaline body myopathy
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Accession:DOID:0111269 term browser browse the term
Definition:A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2. (DO)
Synonyms:exact_synonym: MSMA;   MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS;   MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT;   hyaline body myopathy;   myosin storage myopathy
 primary_id: MESH:C564253
 alt_id: DOID:9008187;   OMIM:608358;   RDO:0013279
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autosomal dominant hyaline body myopathy 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:7240710
RGD:8554872
RGD:12792959

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Path 1
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  disease 15639
    Developmental Diseases 8774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7556
        genetic disease 7052
          monogenic disease 4684
            autosomal genetic disease 3642
              autosomal dominant disease 2153
                autosomal dominant hyaline body myopathy 2
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        peripheral nervous system disease 2134
          neuropathy 1956
            neuromuscular disease 1530
              muscular disease 968
                muscle tissue disease 689
                  myopathy 556
                    congenital myopathy 29
                      hyaline body myopathy 2
                        autosomal dominant hyaline body myopathy 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.