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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.


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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:28492532 NCBI chr18:24,733,306...24,739,194
Ensembl chr18:24,734,330...24,735,349
JBrowse link
G Lims2 LIM zinc finger domain containing 2 ISO 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:25589244, PMID:25741868, PMID:28492532 NCBI chr18:24,707,951...24,746,159
Ensembl chr18:24,708,115...24,746,159
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                autosomal recessive limb-girdle muscular dystrophy 105
                  autosomal recessive limb-girdle muscular dystrophy type 2W 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        peripheral nervous system disease 2475
          neuropathy 2296
            neuromuscular disease 1777
              muscular disease 1199
                muscle tissue disease 811
                  myopathy 668
                    muscular dystrophy 327
                      limb-girdle muscular dystrophy 147
                        autosomal recessive limb-girdle muscular dystrophy 105
                          autosomal recessive limb-girdle muscular dystrophy type 2W 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.