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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive limb-girdle muscular dystrophy type 2U
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Accession:DOID:0110295 term browser browse the term
Definition:An autosomal recessive limb-girdle muscular dystrophy that hhas_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21. (DO)
Synonyms:exact_synonym: LGMD2U;   MDDGC7;   autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency;   muscular dystrophy limb-girdle type 2U;   muscular dystrophy-dystroglycanopathy (limb-girdle) type C7;   muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
 primary_id: OMIM:616052
 alt_id: RDO:9001094;   RDO:9003810;   RDO:9004294
 xref: ORDO:352479
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autosomal recessive limb-girdle muscular dystrophy type 2U term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crppa CDP-L-ribitol pyrophosphorylase A JBrowse link 6 55,880,136 56,159,466 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      musculoskeletal system disease 4281
        muscular disease 959
          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 2U 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
                  myopathy 552
                    muscular dystrophy 277
                      limb-girdle muscular dystrophy 122
                        autosomal recessive limb-girdle muscular dystrophy 106
                          autosomal recessive limb-girdle muscular dystrophy type 2U 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.