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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive limb-girdle muscular dystrophy type 2P
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Accession:DOID:0110293 term browser browse the term
Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21. (DO)
Synonyms:exact_synonym: LGMD2P;   MDDGC9;   MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P;   MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DAG1-RELATED;   muscular dystrophy-dystroglycanopathy (limb-girdle) type C9
 primary_id: OMIM:613818
 alt_id: RDO:9000584
 xref: ORDO:280333
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive limb-girdle muscular dystrophy type 2P term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:7240710
RGD:8554872

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  disease 15590
    Developmental Diseases 8723
      Neurodevelopmental Disorders 4047
        intellectual disability 1685
          autosomal recessive limb-girdle muscular dystrophy type 2P 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 type 2P 1
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