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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:autosomal recessive limb-girdle muscular dystrophy type 2G
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Accession:DOID:0110281 term browser browse the term
Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP). (DO)
Synonyms:exact_synonym: LGMD2G;   limb-girdle muscular dystrophy due to telethonin deficiency;   muscular dystrophy, limb-girdle, type 2G
 primary_id: MESH:C566599
 alt_id: OMIM:601954;   RDO:0014912
 xref: ORDO:34514


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                autosomal recessive limb-girdle muscular dystrophy 113
                  autosomal recessive limb-girdle muscular dystrophy type 2G 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        peripheral nervous system disease 4124
          neuropathy 3907
            neuromuscular disease 3059
              muscular disease 2148
                muscle tissue disease 1294
                  myopathy 1008
                    muscular dystrophy 600
                      limb-girdle muscular dystrophy 198
                        autosomal recessive limb-girdle muscular dystrophy 113
                          autosomal recessive limb-girdle muscular dystrophy type 2G 1
paths to the root