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ONTOLOGY REPORT - ANNOTATIONS


Term:Autosomal Recessive Limb-Girdle Muscular Dystrophy 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: LGMDR23;   MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
 primary_id: OMIM:618138
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Autosomal Recessive Limb-Girdle Muscular Dystrophy 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 15590
    disease of anatomical entity 14919
      musculoskeletal system disease 4252
        muscular disease 941
          atrophic muscular disease 277
            muscular dystrophy 275
              limb-girdle muscular dystrophy 121
                autosomal recessive limb-girdle muscular dystrophy 105
                  Autosomal Recessive Limb-Girdle Muscular Dystrophy 23 1
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        peripheral nervous system disease 2111
          neuropathy 1933
            neuromuscular disease 1504
              muscular disease 941
                muscle tissue disease 667
                  myopathy 546
                    muscular dystrophy 275
                      limb-girdle muscular dystrophy 121
                        autosomal recessive limb-girdle muscular dystrophy 105
                          Autosomal Recessive Limb-Girdle Muscular Dystrophy 23 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.