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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 recessive limb-girdle muscular dystrophy type 2W
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Accession:DOID:0110288 term browser browse the term
Definition:An autosomal recessive muscle disorder characterized by onset of severe and progressive muscle weakness and atrophy in childhood, resulting in loss of independent ambulation. (OMIM)
Synonyms:exact_synonym: LGMD2W;   MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE;   muscular dystrophy, limb-girdle, type 2W
 primary_id: OMIM:616827
 alt_id: RDO:9000380
 xref: ORDO:466801
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
autosomal recessive limb-girdle muscular dystrophy type 2W term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPR17 G protein-coupled receptor 17 IAGP ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2W ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:127,646,153...127,652,639
Ensembl chr 2:127,645,864...127,652,639
JBrowse link
G LIMS2 LIM zinc finger domain containing 2 IAGP ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2W
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2w
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:25589244 PMID:25741868 PMID:28492532 NCBI chr 2:127,638,421...127,681,786
Ensembl chr 2:127,638,381...127,681,786
JBrowse link

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 recessive disease 3698
                autosomal recessive limb-girdle muscular dystrophy 111
                  autosomal recessive limb-girdle muscular dystrophy type 2W 2
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 recessive limb-girdle muscular dystrophy 111
                          autosomal recessive limb-girdle muscular dystrophy type 2W 2
paths to the root