ONTOLOGY REPORT - ANNOTATIONS


Term:myofibrillar myopathy 7
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Accession:DOID:0080098 term browser browse the term
Definition:An autosomal recessive muscle disorder characterized by early childhood onset of slowly progressive muscle weakness primary affecting the lower limbs and associated with joint contractures. (OMIM)
Synonyms:exact_synonym: MFM7
 primary_id: OMIM:617114
 alt_id: DOID:9001064;   RDO:9000596;   RDO:9001274
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myofibrillar myopathy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep63 centrosomal protein 63 JBrowse link 8 111,063,988 111,116,014 RGD:8554872
G Ephb1 Eph receptor B1 JBrowse link 8 110,376,954 110,813,193 RGD:8554872
G Ky kyphoscoliosis peptidase JBrowse link 8 110,982,777 111,022,666 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      congenital structural myopathy 134
        myofibrillar myopathy 54
          myofibrillar myopathy 7 3
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        peripheral nervous system disease 2009
          neuropathy 1830
            neuromuscular disease 1411
              muscular disease 908
                muscle tissue disease 636
                  myopathy 523
                    congenital structural myopathy 134
                      myofibrillar myopathy 54
                        myofibrillar myopathy 7 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.