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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 dominant limb-girdle muscular dystrophy type 2
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Accession:DOID:0110304 term browser browse the term
Definition:An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32. (DO)
Synonyms:exact_synonym: LGMD1F;   autosomal dominant limb-girdle muscular dystrophy type 1F;   muscular dystrophy limb-girdle type 1F
 primary_id: MESH:C564242
 alt_id: OMIM:608423;   RDO:0013268
 xref: ORDO:55595
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal dominant limb-girdle muscular dystrophy type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNPO3 transportin 3 ISO OMIM NCBI chr14:7,639,276...7,722,453
Ensembl chr14:7,639,558...7,722,351
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13584
    Developmental Disease 10017
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8352
        genetic disease 7908
          monogenic disease 6046
            autosomal genetic disease 5256
              autosomal dominant disease 3563
                autosomal dominant limb-girdle muscular dystrophy 8
                  autosomal dominant limb-girdle muscular dystrophy type 2 1
Path 2
Term Annotations click to browse term
  disease 13584
    disease of anatomical entity 13246
      nervous system disease 10954
        peripheral nervous system disease 2323
          neuropathy 2155
            neuromuscular disease 1722
              muscular disease 1150
                muscle tissue disease 781
                  myopathy 619
                    muscular dystrophy 295
                      limb-girdle muscular dystrophy 144
                        autosomal dominant limb-girdle muscular dystrophy 8
                          autosomal dominant limb-girdle muscular dystrophy type 2 1
paths to the root