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ONTOLOGY REPORT - ANNOTATIONS


Term:Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23
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Accession:DOID:9008732 term browser browse the term
Definition:A disease characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs and resulting in gait difficulties. Additional features include white matter abnormalities on brain imaging, increased serum creatine kinase, and dystrophic features.
Synonyms:exact_synonym: Autosomal Recessive Limb-Girdle Muscular Dystrophy 23;   LGMDR23
 primary_id: OMIM:618138
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Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lama2 laminin subunit alpha 2 JBrowse link 1 18,491,264 19,143,486 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      musculoskeletal system disease 4326
        muscular disease 1000
          atrophic muscular disease 281
            muscular dystrophy 279
              limb-girdle muscular dystrophy 121
                autosomal recessive limb-girdle muscular dystrophy 105
                  Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 1
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        peripheral nervous system disease 2163
          neuropathy 1987
            neuromuscular disease 1558
              muscular disease 1000
                muscle tissue disease 693
                  myopathy 559
                    muscular dystrophy 279
                      limb-girdle muscular dystrophy 121
                        autosomal recessive limb-girdle muscular dystrophy 105
                          Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 1
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