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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: MIM:608423;   RDO:0013268
 xref: ORDO:55595

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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 Atp6v1f ATPase H+ transporting V1 subunit F ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F ClinVar PMID:28492532 NCBI chrNW_004624783:7,328,113...7,331,648
Ensembl chrNW_004624783:7,328,113...7,331,666 		JBrowse link
G Calu calumenin ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F ClinVar PMID:28492532 NCBI chrNW_004624783:7,417,505...7,448,711 JBrowse link
G Ccdc136 coiled-coil domain containing 136 ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F ClinVar PMID:28492532 NCBI chrNW_004624783:7,367,377...7,398,632 JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F ClinVar PMID:28492532 NCBI chrNW_004624783:7,334,421...7,360,795
Ensembl chrNW_004624783:7,334,312...7,361,134 		JBrowse link
G Irf5 interferon regulatory factor 5 ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F ClinVar PMID:28492532 NCBI chrNW_004624783:7,267,680...7,275,918
Ensembl chrNW_004624783:7,260,005...7,274,433 		JBrowse link
G Kcp kielin cysteine rich BMP regulator ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F ClinVar PMID:28492532 NCBI chrNW_004624783:7,290,663...7,316,866 JBrowse link
G Opn1sw opsin 1, short wave sensitive ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F ClinVar PMID:28492532 NCBI chrNW_004624783:7,412,825...7,416,209
Ensembl chrNW_004624783:7,412,825...7,416,095 		JBrowse link
G Tnpo3 transportin 3 ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1F OMIM
ClinVar		 PMID:9536098 PMID:11222786 PMID:16199547 PMID:17576681 PMID:23543484 More... NCBI chrNW_004624783:7,168,865...7,261,008
Ensembl chrNW_004624783:7,168,867...7,261,261 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14234
    Developmental Disease 12524
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11800
        genetic disease 11525
          monogenic disease 9924
            autosomal genetic disease 9533
              autosomal dominant disease 6231
                autosomal dominant limb-girdle muscular dystrophy 19
                  autosomal dominant limb-girdle muscular dystrophy type 2 8
Path 2
Term Annotations click to browse term
  disease 14234
    disease of anatomical entity 13936
      nervous system disease 12272
        peripheral nervous system disease 4083
          neuropathy 3905
            neuromuscular disease 3011
              muscular disease 2085
                muscle tissue disease 1256
                  myopathy 962
                    muscular dystrophy 603
                      limb-girdle muscular dystrophy 222
                        autosomal dominant limb-girdle muscular dystrophy 19
                          autosomal dominant limb-girdle muscular dystrophy type 2 8
paths to the root