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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 9 121,515,691 121,566,799 RGD:7240710
RGD:9068941
G TOR1AIP2 torsin 1A interacting protein 2 JBrowse link 9 121,476,501 121,516,611 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12018
    disease of anatomical entity 11674
      musculoskeletal system disease 3814
        muscular disease 963
          atrophic muscular disease 267
            muscular dystrophy 265
              limb-girdle muscular dystrophy 118
                autosomal recessive limb-girdle muscular dystrophy 102
                  autosomal recessive limb-girdle muscular dystrophy type 2Y 2
Path 2
Term Annotations click to browse term
  disease 12018
    disease of anatomical entity 11674
      nervous system disease 9351
        peripheral nervous system disease 2076
          neuropathy 1915
            neuromuscular disease 1504
              muscular disease 963
                muscle tissue disease 667
                  myopathy 533
                    muscular dystrophy 265
                      limb-girdle muscular dystrophy 118
                        autosomal recessive limb-girdle muscular dystrophy 102
                          autosomal recessive limb-girdle muscular dystrophy type 2Y 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.