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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 26
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Accession:DOID:9002441 term browser browse the term
Synonyms:exact_synonym: LGMDR26;   autosomal recessive limb-girdle muscular dystrophy-26
 primary_id: OMIM:618848


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Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BVES-AS1 BVES antisense RNA 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 26 ClinVar PMID:31610034 NCBI chr 6:105,137,687...105,169,945
Ensembl chr 6:105,136,308...105,199,559 		JBrowse link
G POPDC3 popeye domain containing 3 IAGP ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 26 OMIM
ClinVar		 PMID:31610034 NCBI chr 6:105,157,900...105,180,014
Ensembl chr 6:105,157,900...105,180,014 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          monogenic disease 18509
            autosomal genetic disease 16779
              autosomal recessive disease 10238
                autosomal recessive limb-girdle muscular dystrophy 169
                  Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 2
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        peripheral nervous system disease 5379
          neuropathy 5126
            neuromuscular disease 4040
              muscular disease 2806
                muscle tissue disease 1714
                  myopathy 1390
                    muscular dystrophy 849
                      limb-girdle muscular dystrophy 273
                        autosomal recessive limb-girdle muscular dystrophy 169
                          Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 2
paths to the root