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Term:rigid spine muscular dystrophy 1
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Accession:DOID:0110633 term browser browse the term
Definition:A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: CONGENITAL MUSCULAR DYSTROPHY WITH RIGID SPINE;   Desmin-Related Myopathy With Mallory Bodies;   Desmin-related myopathies with Mallory bodies;   MDRS1;   Minicore myopathy, severe classic form;   Multicore myopathy, severe classic form;   Multiminicore disease, severe classic form;   Multiminicore/minicore/multicore disease;   Muscular Dystrophy, Congenital, Eichsfeld Type;   Muscular dystrophy, congenital, merosin positive with early spine rigidity;   Myopathy, Sepn1-Related;   RSMD1;   RSS;   SEPN1-RELATED DISORDER;   classic MmD;   classic multiminicore disease;   classic multiminicore myopathy;   desmin-related myopathy with Mallory body-like inclusions;   early-onset desmin-related myopathy;   rigid spine syndrome
 narrow_synonym: Multi-minicore disease and atypical periodic paralysis
 primary_id: MESH:C535683
 alt_id: OMIM:602771;   RDO:0000938
 xref: GARD:4723;   ORDO:324604;   ORDO:84132;   ORDO:97244
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rigid spine muscular dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta1 actin, alpha 1, skeletal muscle JBrowse link 19 56,674,072 56,677,084 RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Selenon selenoprotein N JBrowse link 5 152,748,497 152,765,489 RGD:1599352

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Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          congenital muscular dystrophy 50
            rigid spine muscular dystrophy 1 3
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        peripheral nervous system disease 2125
          neuropathy 1948
            neuromuscular disease 1520
              muscular disease 957
                muscle tissue disease 684
                  atrophic muscular disease 279
                    muscular dystrophy 277
                      congenital muscular dystrophy 50
                        rigid spine muscular dystrophy 1 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.