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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 chrNW_004936471:5,667,839...5,711,822 JBrowse link
G Cbs cystathionine beta-synthase ISO ClinVar Annotator: match by term: Calpainopathy ClinVar PMID:25326637 NCBI chrNW_004936500:976,043...1,003,559 JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Calpainopathy ClinVar PMID:26467025 PMID:27854218 PMID:28492532 NCBI chrNW_004936513:11,158,609...11,215,477 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12130
    Developmental Disease 8657
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7606
        genetic disease 7178
          monogenic disease 5323
            autosomal genetic disease 4558
              autosomal recessive disease 2546
                autosomal recessive limb-girdle muscular dystrophy 102
                  autosomal recessive limb-girdle muscular dystrophy type 2A 3
Path 2
Term Annotations click to browse term
  disease 12130
    disease of anatomical entity 11691
      nervous system disease 9570
        peripheral nervous system disease 2245
          neuropathy 2090
            neuromuscular disease 1644
              muscular disease 1081
                muscle tissue disease 730
                  myopathy 586
                    muscular dystrophy 291
                      limb-girdle muscular dystrophy 142
                        autosomal recessive limb-girdle muscular dystrophy 102
                          autosomal recessive limb-girdle muscular dystrophy type 2A 3
paths to the root