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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 LOC130001338 ATAC-STARR-seq lymphoblastoid active region 28078 IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 ClinVar PMID:25741868 PMID:26467025 NCBI chr 8:143,939,334...143,939,573 JBrowse link
G PLEC plectin IAGP
EXP		 ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17
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		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10652002 PMID:11851880 PMID:15206692 PMID:15810881 More... NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35754
    Developmental Disease 28610
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 24646
        genetic disease 23840
          monogenic disease 18586
            autosomal genetic disease 16857
              autosomal recessive disease 10332
                autosomal recessive limb-girdle muscular dystrophy 169
                  autosomal recessive limb-girdle muscular dystrophy type 2Q 2
Path 2
Term Annotations click to browse term
  disease 35754
    disease of anatomical entity 32493
      nervous system disease 26373
        peripheral nervous system disease 5395
          neuropathy 5141
            neuromuscular disease 4050
              muscular disease 2812
                muscle tissue disease 1720
                  myopathy 1395
                    muscular dystrophy 852
                      limb-girdle muscular dystrophy 273
                        autosomal recessive limb-girdle muscular dystrophy 169
                          autosomal recessive limb-girdle muscular dystrophy type 2Q 2
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