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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;   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: ORDO:119
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:604286
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2E
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2E
ClinVar Annotator: match by term: Beta-sarcoglycan limb-girdle muscular dystrophy
OMIM
ClinVar
PMID:7581448 PMID:7581449 PMID:8968749 PMID:9032047 PMID:9536098 PMID:9565988 PMID:9631401 PMID:10660328 PMID:10662809 PMID:10874299 PMID:10942431 PMID:10993494 PMID:11166169 PMID:11369190 PMID:12566530 PMID:12868499 PMID:15032976 PMID:15938573 PMID:15938574 PMID:16524571 PMID:17576681 PMID:17994539 PMID:18285821 PMID:18996010 PMID:19770540 PMID:20071171 PMID:21480868 PMID:22095924 PMID:23349452 PMID:25135358 PMID:25337728 PMID:25525159 PMID:25741868 PMID:25862795 PMID:26206375 PMID:26404900 PMID:26467025 PMID:26990548 PMID:27671536 PMID:28403181 PMID:28492532 PMID:28687063 PMID:28883879 PMID:29970176, PMID:10678176, PMID:28284983 RGD:13605614, RGD:13605613 NCBI chr14:37,113,194...37,128,623
Ensembl chr14:37,113,210...37,128,737
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        genetic disease 8399
          monogenic disease 6338
            autosomal genetic disease 5493
              autosomal recessive disease 3229
                autosomal recessive limb-girdle muscular dystrophy 106
                  autosomal recessive limb-girdle muscular dystrophy type 2E 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        peripheral nervous system disease 2421
          neuropathy 2233
            neuromuscular disease 1780
              muscular disease 1191
                muscle tissue disease 814
                  myopathy 650
                    muscular dystrophy 315
                      limb-girdle muscular dystrophy 147
                        autosomal recessive limb-girdle muscular dystrophy 106
                          autosomal recessive limb-girdle muscular dystrophy type 2E 1
paths to the root