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

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Path 1
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      musculoskeletal system disease 3997
        muscular disease 908
          atrophic muscular disease 245
            muscular dystrophy 244
              limb-girdle muscular dystrophy 115
                autosomal recessive limb-girdle muscular dystrophy 99
                  autosomal recessive limb-girdle muscular dystrophy 23 1
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        peripheral nervous system disease 2017
          neuropathy 1838
            neuromuscular disease 1413
              muscular disease 908
                muscle tissue disease 635
                  myopathy 522
                    muscular dystrophy 244
                      limb-girdle muscular dystrophy 115
                        autosomal recessive limb-girdle muscular dystrophy 99
                          autosomal recessive limb-girdle muscular dystrophy 23 1
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