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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive limb-girdle muscular dystrophy type 2Y
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Accession:DOID:0110289 term browser browse the term
Definition:An autosomal recessive muscular disorder characterized by onset of slowly progressive muscle weakness in the first or second decades of life. There is initial involvement of the proximal lower limbs, followed by distal upper and lower limb muscle weakness and atrophy. Other features include joint contractures, rigid spine, and restricted pulmonary function. (OMIM)
Synonyms:exact_synonym: LGMD2Y;   autosomal recessive muscular dystrophy due to LAP1B deficiency;   autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency;   muscular dystrophy with progressive weakness, distal contractures and rigid spine;   muscular dystrophy, limb-girdle, type 2Y
 primary_id: OMIM:617072
 alt_id: RDO:9001253
 xref: ORDO:424261
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autosomal recessive limb-girdle muscular dystrophy type 2Y term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tor1aip1 torsin 1A interacting protein 1 JBrowse link NW_004955406 19,122,906 19,152,458 RGD:7240710
RGD:9068941

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Path 1
Term Annotations click to browse term
  disease 11284
    disease of anatomical entity 10903
      musculoskeletal system disease 3669
        muscular disease 928
          atrophic muscular disease 260
            muscular dystrophy 258
              limb-girdle muscular dystrophy 117
                autosomal recessive limb-girdle muscular dystrophy 101
                  autosomal recessive limb-girdle muscular dystrophy type 2Y 1
Path 2
Term Annotations click to browse term
  disease 11284
    disease of anatomical entity 10903
      nervous system disease 8727
        peripheral nervous system disease 2001
          neuropathy 1849
            neuromuscular disease 1443
              muscular disease 928
                muscle tissue disease 642
                  myopathy 509
                    muscular dystrophy 258
                      limb-girdle muscular dystrophy 117
                        autosomal recessive limb-girdle muscular dystrophy 101
                          autosomal recessive limb-girdle muscular dystrophy type 2Y 1
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