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Term:nemaline myopathy 1
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Accession:DOID:0110926 term browser browse the term
Definition:A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21. (DO)
Synonyms:exact_synonym: NEM1;   cap myopathy, TPM3-related;   nemaline myopathy 1, autosomal dominant or recessive;   nemaline myopathy caused by mutation in the tropomyosin 3 gene
 narrow_synonym: CAP myopathy 1;   CAPM1
 primary_id: MESH:C538348
 alt_id: OMIM:609284;   RDO:0004315
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nemaline myopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tpm3 tropomyosin 3 JBrowse link 2 189,423,534 189,451,340 RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          nemaline myopathy 1 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        peripheral nervous system disease 1998
          neuropathy 1823
            neuromuscular disease 1406
              muscular disease 902
                muscle tissue disease 631
                  myopathy 521
                    congenital structural myopathy 134
                      nemaline myopathy 57
                        nemaline myopathy 1 1
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