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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 2Q
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Accession:DOID:0110285 term browser browse the term
Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene. (DO)
Synonyms:exact_synonym: LGMD2Q;   LGMDR17;   autosomal recessive limb-girdle muscular dystrophy 17;   autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency;   limb-girdle muscular dystrophy, type 2Q
 primary_id: OMIM:613723
 xref: ORDO:254361


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autosomal recessive limb-girdle muscular dystrophy type 2Q term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plec plectin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2Q | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:10652002 PMID:11851880 PMID:15206692 PMID:15810881 More... NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                autosomal recessive limb-girdle muscular dystrophy 113
                  autosomal recessive limb-girdle muscular dystrophy type 2Q 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        peripheral nervous system disease 4122
          neuropathy 3906
            neuromuscular disease 3059
              muscular disease 2148
                muscle tissue disease 1294
                  myopathy 1008
                    muscular dystrophy 599
                      limb-girdle muscular dystrophy 198
                        autosomal recessive limb-girdle muscular dystrophy 113
                          autosomal recessive limb-girdle muscular dystrophy type 2Q 1
paths to the root