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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 2F
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Accession:DOID:0110280 term browser browse the term
Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the sarcoglycan-delta gene (SGCD). (DO)
Synonyms:exact_synonym: DELTA-SARCOGLYCANOPATHY;   LGMD2F;   LGMDR6;   autosomal recessive limb-girdle muscular dystrophy 6;   limb-girdle muscular dystrophy 2F;   limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency;   limb-girdle muscular dystrophy type 2F;   limb-girdle muscular dystrophy with delta-sarcoglyan deficiency
 narrow_synonym: autosomal recessive limb-girdle muscular dystrophy 6, digenic;   limb-girdle muscular dystrophy type 2f, digenic
 primary_id: MESH:C535896
 alt_id: OMIA:002122;   OMIM:601287
 xref: ORDO:219


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autosomal recessive limb-girdle muscular dystrophy type 2F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SGCD sarcoglycan delta ISO
IAGP		 Muscular dystrophy, limb-girdle, type R6 (LGMDR6)
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2F | ClinVar Annotator: match by term: Delta-sarcoglycanopathy | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6, DIGENIC		 OMIM
OMIA
ClinVar		 PMID:8841194 PMID:9536098 PMID:9832045 PMID:10735275 PMID:10838250 More... NCBI chr 4:53,259,332...54,178,228
Ensembl chr 4:53,263,866...53,820,231 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17452
        genetic disease 17430
          monogenic disease 10127
            autosomal genetic disease 9334
              autosomal recessive disease 6469
                autosomal recessive limb-girdle muscular dystrophy 113
                  autosomal recessive limb-girdle muscular dystrophy type 2F 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        peripheral nervous system disease 4038
          neuropathy 3843
            neuromuscular disease 3017
              muscular disease 2130
                muscle tissue disease 1287
                  myopathy 1000
                    muscular dystrophy 596
                      limb-girdle muscular dystrophy 194
                        autosomal recessive limb-girdle muscular dystrophy 113
                          autosomal recessive limb-girdle muscular dystrophy type 2F 1
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