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Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 - Ontology Report - Rat Genome Database

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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: MIM: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 cAMP effector 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 19145
    Developmental Disease 14671
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10965
            autosomal genetic disease 10454
              autosomal recessive disease 7132
                autosomal recessive limb-girdle muscular dystrophy 148
                  Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 1
Path 2
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      nervous system disease 14363
        peripheral nervous system disease 4406
          neuropathy 4192
            neuromuscular disease 3234
              muscular disease 2239
                muscle tissue disease 1361
                  myopathy 1055
                    muscular dystrophy 659
                      limb-girdle muscular dystrophy 237
                        autosomal recessive limb-girdle muscular dystrophy 148
                          Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 1
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