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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 2A
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Accession:DOID:0110275 term browser browse the term
Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15. (DO)
Synonyms:exact_synonym: LGMD2;   LGMD2A;   LGMDR1;   Leyden-Moebius muscular dystrophy;   autosomal recessive limb-girdle muscular dystrophy, 1;   calpainopathy;   limb-girdle muscular dystrophy due to calpain deficiency;   limb-girdle muscular dystrophy type 2;   limb-girdle muscular dystrophy, type 2A;   pelvofemoral muscular dystrophy;   primary calpainopathy
 narrow_synonym: eosinophilic myositis
 broad_synonym: CAPN3-RELATED DISORDER
 primary_id: MESH:C535895
 alt_id: OMIM:253600
 xref: GARD:3845;   NCI:C142079;   ORDO:267
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive limb-girdle muscular dystrophy type 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAPN3 calpain 3 ISO OMIM NCBI chr30:9,329,190...9,384,622
Ensembl chr30:9,329,015...9,383,772
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13588
    Developmental Disease 10027
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8362
        genetic disease 7917
          monogenic disease 6052
            autosomal genetic disease 5261
              autosomal recessive disease 3114
                autosomal recessive limb-girdle muscular dystrophy 104
                  autosomal recessive limb-girdle muscular dystrophy type 2A 1
Path 2
Term Annotations click to browse term
  disease 13588
    disease of anatomical entity 13248
      nervous system disease 10966
        peripheral nervous system disease 2327
          neuropathy 2159
            neuromuscular disease 1726
              muscular disease 1155
                muscle tissue disease 786
                  myopathy 624
                    muscular dystrophy 296
                      limb-girdle muscular dystrophy 144
                        autosomal recessive limb-girdle muscular dystrophy 104
                          autosomal recessive limb-girdle muscular dystrophy type 2A 1
paths to the root