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ONTOLOGY REPORT - ANNOTATIONS


Term:fatal infantile hypertonic myofibrillar myopathy
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Accession:DOID:0080309 term browser browse the term
Definition:A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23. (DO)
Synonyms:exact_synonym: MFM, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related;   alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy
 primary_id: OMIM:613869
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Symbol Object Name JBrowse Chr Start Stop Reference
G Cryab crystallin, alpha B JBrowse link 8 55,178,543 55,182,546 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      congenital structural myopathy 134
        myofibrillar myopathy 53
          fatal infantile hypertonic myofibrillar myopathy 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
                      myofibrillar myopathy 53
                        fatal infantile hypertonic myofibrillar myopathy 1
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