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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 1 179,882,042 179,920,077 RGD:8554872
RGD:7240710
G TOR1AIP2 torsin 1A interacting protein 2 JBrowse link 1 179,839,976 179,877,803 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16489
    disease of anatomical entity 15414
      musculoskeletal system disease 4333
        muscular disease 1055
          atrophic muscular disease 299
            muscular dystrophy 297
              limb-girdle muscular dystrophy 125
                autosomal recessive limb-girdle muscular dystrophy 109
                  autosomal recessive limb-girdle muscular dystrophy type 2Y 2
Path 2
Term Annotations click to browse term
  disease 16489
    disease of anatomical entity 15414
      nervous system disease 11652
        peripheral nervous system disease 2258
          neuropathy 2089
            neuromuscular disease 1652
              muscular disease 1055
                muscle tissue disease 744
                  myopathy 607
                    muscular dystrophy 297
                      limb-girdle muscular dystrophy 125
                        autosomal recessive limb-girdle muscular dystrophy 109
                          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.