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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive limb-girdle muscular dystrophy type 2X
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Accession:DOID:0110290 term browser browse the term
Definition:An autosomal recessive muscle disorder characterized by slowly progressive onset of proximal lower limb weakness in adulthood. Affected individuals also develop cardiac arrhythmias resulting in syncopal episodes as young adults or later in life. LGMD2X is caused by homozygous mutation in the BVES gene on chromosome 6q21. (OMIM)
Synonyms:exact_synonym: CARDIAC ARRHYTHMIA WITH INCREASED SERUM CREATINE KINASE;   CARICK;   LGMD2X;   LGMDR25;   MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25;   muscular dystrophy, limb-girdle, type 2X
 primary_id: OMIM:616812
 alt_id: RDO:9001160
 xref: ORDO:476084
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autosomal recessive limb-girdle muscular dystrophy type 2X term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bves blood vessel epicardial substance JBrowse link 20 50,439,885 50,474,678 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15626
    Pathological Conditions, Signs and Symptoms 8041
      Pathologic Processes 5098
        Cardiac Arrhythmias 527
          autosomal recessive limb-girdle muscular dystrophy type 2X 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        peripheral nervous system disease 2127
          neuropathy 1950
            neuromuscular disease 1522
              muscular disease 959
                muscle tissue disease 685
                  atrophic muscular disease 279
                    muscular dystrophy 277
                      limb-girdle muscular dystrophy 122
                        autosomal recessive limb-girdle muscular dystrophy 106
                          autosomal recessive limb-girdle muscular dystrophy type 2X 1
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