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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 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1F ClinVar
OMIM
PMID:9536098 PMID:11222786 PMID:17576681 PMID:23543484 PMID:23667635 PMID:25741868 PMID:28492532 PMID:31071488 PMID:31217819 NCBI chr 7:128,954,185...129,055,111
Ensembl chr 7:128,954,180...129,055,173
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19890
    Developmental Disease 13316
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10559
        genetic disease 10042
          monogenic disease 7617
            autosomal genetic disease 6524
              autosomal dominant disease 4398
                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 19890
    disease of anatomical entity 18505
      nervous system disease 14498
        peripheral nervous system disease 2621
          neuropathy 2430
            neuromuscular disease 1951
              muscular disease 1291
                muscle tissue disease 889
                  myopathy 721
                    muscular dystrophy 345
                      limb-girdle muscular dystrophy 154
                        autosomal dominant limb-girdle muscular dystrophy 8
                          autosomal dominant limb-girdle muscular dystrophy type 2 1
paths to the root