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ONTOLOGY REPORT - ANNOTATIONS


Term:nemaline myopathy 8
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Accession:DOID:0110930 term browser browse the term
Definition:Nemaline myopathy-8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth.
Synonyms:exact_synonym: NEM8;   Nemaline myopathy 8, autosomal recessive
 primary_id: OMIM:615348
 alt_id: RDO:9000733
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nemaline myopathy 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klhl40 kelch-like family member 40 JBrowse link 8 130,416,265 130,421,871 RGD:7240710
RGD:8554872

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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 8 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 8 1
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