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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 2E
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Accession:DOID:0110279 term browser browse the term
Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12. (DO)
Synonyms:exact_synonym: LGMD2E;   LGMDR4;   autosomal recessive limb-girdle muscular dystrophy 4;   beta-sarcoglycan limb-girdle muscular dystrophy;   beta-sarcoglycanopathy;   limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency;   limb-girdle muscular dystrophy with beta-sarcoglycan deficiency;   muscular dystrophy, limb-girdle, type 2E
 primary_id: MESH:C535902
 alt_id: MESH:C535435;   OMIM:604286
 xref: NCI:C180849;   ORDO:119

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autosomal recessive limb-girdle muscular dystrophy type 2E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sgcb sarcoglycan beta treatment ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2E | ClinVar Annotator: match by term: Beta-sarcoglycan limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Beta-sarcoglycanopathy | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4 OMIM
RGD
ClinVar		 PMID:7581448 PMID:7581449 PMID:8968749 PMID:9032047 PMID:9536098 More... RGD:13605613 NCBI chrNW_004936482:15,150,805...15,163,340
Ensembl chrNW_004936482:15,150,125...15,163,394 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9607
            autosomal genetic disease 8891
              autosomal recessive disease 6218
                autosomal recessive limb-girdle muscular dystrophy 112
                  autosomal recessive limb-girdle muscular dystrophy type 2E 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        peripheral nervous system disease 3886
          neuropathy 3704
            neuromuscular disease 2899
              muscular disease 2043
                muscle tissue disease 1226
                  myopathy 950
                    muscular dystrophy 574
                      limb-girdle muscular dystrophy 193
                        autosomal recessive limb-girdle muscular dystrophy 112
                          autosomal recessive limb-girdle muscular dystrophy type 2E 1
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