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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 LOC106144612 torsin-1A-interacting protein 2 JBrowse link NW_004936481 9,266,527 9,280,289 RGD:9068941
G Tor1aip1 torsin 1A interacting protein 1 JBrowse link NW_004936481 9,234,379 9,261,961 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11417
    disease of anatomical entity 11086
      musculoskeletal system disease 3697
        muscular disease 935
          atrophic muscular disease 267
            muscular dystrophy 265
              limb-girdle muscular dystrophy 119
                autosomal recessive limb-girdle muscular dystrophy 103
                  autosomal recessive limb-girdle muscular dystrophy type 2Y 2
Path 2
Term Annotations click to browse term
  disease 11417
    disease of anatomical entity 11086
      nervous system disease 8913
        peripheral nervous system disease 2014
          neuropathy 1861
            neuromuscular disease 1459
              muscular disease 935
                muscle tissue disease 650
                  myopathy 516
                    muscular dystrophy 265
                      limb-girdle muscular dystrophy 119
                        autosomal recessive limb-girdle muscular dystrophy 103
                          autosomal recessive limb-girdle muscular dystrophy type 2Y 2
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