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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_004936579:6,047,900...6,134,211 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12785
    Developmental Disease 9505
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8017
        genetic disease 7588
          monogenic disease 5851
            autosomal genetic disease 5103
              autosomal dominant disease 3478
                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 12785
    disease of anatomical entity 12465
      nervous system disease 10338
        peripheral nervous system disease 2236
          neuropathy 2079
            neuromuscular disease 1659
              muscular disease 1102
                muscle tissue disease 750
                  myopathy 592
                    muscular dystrophy 293
                      limb-girdle muscular dystrophy 143
                        autosomal dominant limb-girdle muscular dystrophy 8
                          autosomal dominant limb-girdle muscular dystrophy type 2 1
paths to the root