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ONTOLOGY REPORT - ANNOTATIONS


Term:nemaline myopathy 3
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Accession:DOID:0110927 term browser browse the term
Definition:A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42. (DO)
Synonyms:exact_synonym: NEM3;   NEM3 MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS,;   Nemaline myopathy 3, autosomal dominant or recessive;   Nemaline myopathy caused by mutation in the alpha-actin gene
 narrow_synonym: MYOPATHY, ACTIN, CONGENITAL, WITH CORES;   NEMALINE MYOPATHY 3, WITH INTRANUCLEAR RODS
 primary_id: MESH:C538350
 alt_id: OMIM:161800;   RDO:0004318
For additional species annotation, visit the Alliance of Genome Resources.


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nemaline myopathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta1 actin, alpha 1, skeletal muscle JBrowse link 19 56,674,072 56,677,084 RGD:7240710
RGD:8554872

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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          nemaline myopathy 3 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 3 1
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