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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 chrNW_004955479:9,739,927...9,831,276
Ensembl chrNW_004955479:9,740,805...9,831,339
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12523
    Developmental Disease 9319
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7870
        genetic disease 7456
          monogenic disease 5738
            autosomal genetic disease 5031
              autosomal dominant disease 3430
                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 12523
    disease of anatomical entity 12204
      nervous system disease 10124
        peripheral nervous system disease 2209
          neuropathy 2055
            neuromuscular disease 1636
              muscular disease 1092
                muscle tissue disease 741
                  myopathy 585
                    muscular dystrophy 284
                      limb-girdle muscular dystrophy 141
                        autosomal dominant limb-girdle muscular dystrophy 8
                          autosomal dominant limb-girdle muscular dystrophy type 2 1
paths to the root