Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2W ClinVar PMID:25741868 PMID:28492532 NCBI chr15:59,692,992...59,702,513
Ensembl chr15:59,692,992...59,701,266
JBrowse link
G LIMS2 LIM zinc finger domain containing 2 ISO OMIM NCBI chr15:59,672,508...59,709,380
Ensembl chr15:59,672,538...59,709,380
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13426
    Developmental Disease 9906
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8278
        genetic disease 7840
          monogenic disease 6015
            autosomal genetic disease 5226
              autosomal recessive disease 3089
                autosomal recessive limb-girdle muscular dystrophy 103
                  autosomal recessive limb-girdle muscular dystrophy type 2W 2
Path 2
Term Annotations click to browse term
  disease 13426
    disease of anatomical entity 13092
      nervous system disease 10817
        peripheral nervous system disease 2303
          neuropathy 2139
            neuromuscular disease 1708
              muscular disease 1133
                muscle tissue disease 768
                  myopathy 606
                    muscular dystrophy 293
                      limb-girdle muscular dystrophy 143
                        autosomal recessive limb-girdle muscular dystrophy 103
                          autosomal recessive limb-girdle muscular dystrophy type 2W 2
paths to the root