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

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Path 1
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7774
      congenital structural myopathy 134
        myofibrillar myopathy 54
          fatal infantile hypertonic myofibrillar myopathy 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        peripheral nervous system disease 2018
          neuropathy 1839
            neuromuscular disease 1413
              muscular disease 909
                muscle tissue disease 636
                  myopathy 523
                    congenital structural myopathy 134
                      myofibrillar myopathy 54
                        fatal infantile hypertonic myofibrillar myopathy 1
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