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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 NCBI chr20:50,394,617...50,422,551
Ensembl chr20:50,394,650...50,422,560
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal recessive disease 2601
                autosomal recessive limb-girdle muscular dystrophy 107
                  Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        peripheral nervous system disease 2500
          neuropathy 2320
            neuromuscular disease 1805
              muscular disease 1223
                muscle tissue disease 830
                  myopathy 686
                    muscular dystrophy 331
                      limb-girdle muscular dystrophy 149
                        autosomal recessive limb-girdle muscular dystrophy 107
                          Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.