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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 ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2W ClinVar PMID:25741868 PMID:28492532 NCBI chr2B:32,623,444...32,630,256
Ensembl chr2B:128,316,464...128,321,519
JBrowse link
G LIMS2 LIM zinc finger domain containing 2 ISO OMIM NCBI chr2B:32,594,330...32,637,697
Ensembl chr2B:128,304,799...128,347,951
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13605
    Developmental Disease 10021
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8345
        genetic disease 7901
          monogenic disease 6091
            autosomal genetic disease 5280
              autosomal recessive disease 3100
                autosomal recessive limb-girdle muscular dystrophy 102
                  autosomal recessive limb-girdle muscular dystrophy type 2W 2
Path 2
Term Annotations click to browse term
  disease 13605
    disease of anatomical entity 13266
      nervous system disease 10957
        peripheral nervous system disease 2289
          neuropathy 2125
            neuromuscular disease 1696
              muscular disease 1121
                muscle tissue disease 757
                  myopathy 596
                    muscular dystrophy 290
                      limb-girdle muscular dystrophy 140
                        autosomal recessive limb-girdle muscular dystrophy 102
                          autosomal recessive limb-girdle muscular dystrophy type 2W 2
paths to the root