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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      congenital structural myopathy 134
        nemaline myopathy 58
          nemaline myopathy 8 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        peripheral nervous system disease 2367
          neuropathy 2183
            neuromuscular disease 1718
              muscular disease 1129
                muscle tissue disease 758
                  myopathy 612
                    congenital structural myopathy 134
                      nemaline myopathy 58
                        nemaline myopathy 8 1
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