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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 Popdc3 popeye domain containing 3 ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 26 OMIM
ClinVar		 PMID:31610034 PMID:35075722 PMID:35842834 PMID:37104941 NCBI chr20:48,772,397...48,800,677
Ensembl chr20:48,772,462...48,800,593 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    Developmental Disease 14384
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13389
        genetic disease 13005
          monogenic disease 10428
            autosomal genetic disease 9587
              autosomal recessive disease 6667
                autosomal recessive limb-girdle muscular dystrophy 116
                  Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 1
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        peripheral nervous system disease 4131
          neuropathy 3914
            neuromuscular disease 3064
              muscular disease 2153
                muscle tissue disease 1300
                  myopathy 1015
                    muscular dystrophy 607
                      limb-girdle muscular dystrophy 201
                        autosomal recessive limb-girdle muscular dystrophy 116
                          Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 1
paths to the root