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ONTOLOGY REPORT - ANNOTATIONS


Term:Muscular Dystrophy, Limb-Girdle, Type 2Z
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Accession:DOID:9006423 term browser browse the term
Definition:An autosomal recessive muscular disorder characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy. (OMIM)
Synonyms:exact_synonym: LGMD2Z
 primary_id: OMIM:617232
 alt_id: RDO:9001466
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Muscular Dystrophy, Limb-Girdle, Type 2Z term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Poglut1 protein O-glucosyltransferase 1 JBrowse link 11 64,761,493 64,788,210 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      musculoskeletal system disease 4302
        muscular disease 968
          atrophic muscular disease 280
            muscular dystrophy 278
              limb-girdle muscular dystrophy 122
                Muscular Dystrophy, Limb-Girdle, Type 2Z 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        peripheral nervous system disease 2138
          neuropathy 1960
            neuromuscular disease 1530
              muscular disease 968
                muscle tissue disease 689
                  myopathy 556
                    muscular dystrophy 278
                      limb-girdle muscular dystrophy 122
                        Muscular Dystrophy, Limb-Girdle, Type 2Z 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.