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autosomal recessive limb-girdle muscular dystrophy type 2E - 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 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;   MIM: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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:604286
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
CTD
MouseDO
ClinVar
RGD		 PMID:7581448 PMID:7581449 PMID:8968749 PMID:9032047 PMID:9536098 More... RGD:13605614, RGD:13605613 NCBI chr14:34,563,614...34,578,614
Ensembl chr14:34,563,608...34,578,583 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10964
            autosomal genetic disease 10452
              autosomal recessive disease 7136
                autosomal recessive limb-girdle muscular dystrophy 146
                  autosomal recessive limb-girdle muscular dystrophy type 2E 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        peripheral nervous system disease 4397
          neuropathy 4185
            neuromuscular disease 3226
              muscular disease 2233
                muscle tissue disease 1357
                  myopathy 1049
                    muscular dystrophy 654
                      limb-girdle muscular dystrophy 235
                        autosomal recessive limb-girdle muscular dystrophy 146
                          autosomal recessive limb-girdle muscular dystrophy type 2E 1
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