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ONTOLOGY REPORT - ANNOTATIONS


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
For additional species annotation, visit the Alliance of Genome Resources.


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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
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15992
    Developmental Diseases 9280
      congenital structural myopathy 137
        nemaline myopathy 58
          nemaline myopathy 1 1
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        peripheral nervous system disease 2359
          neuropathy 2174
            neuromuscular disease 1706
              muscular disease 1120
                muscle tissue disease 758
                  myopathy 613
                    congenital structural myopathy 137
                      nemaline myopathy 58
                        nemaline myopathy 1 1
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