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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 2S
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Accession:DOID:0110287 term browser browse the term
Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35. (DO)
Synonyms:exact_synonym: LGMD2S;   LGMDR18;   limb-girdle muscular dystrophy, autosomal recessive 18;   limb-girdle muscular dystrophy, type 2S
 primary_id: OMIM:615356
 xref: ORDO:369840


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autosomal recessive limb-girdle muscular dystrophy type 2S term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trappc11 trafficking protein particle complex subunit 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2S | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2S | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23830518 PMID:24033266 More... NCBI chr16:44,733,169...44,779,324
Ensembl chr16:44,733,169...44,779,322 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal recessive disease 6583
                autosomal recessive limb-girdle muscular dystrophy 113
                  autosomal recessive limb-girdle muscular dystrophy type 2S 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        peripheral nervous system disease 4110
          neuropathy 3895
            neuromuscular disease 3052
              muscular disease 2142
                muscle tissue disease 1289
                  myopathy 1004
                    muscular dystrophy 597
                      limb-girdle muscular dystrophy 198
                        autosomal recessive limb-girdle muscular dystrophy 113
                          autosomal recessive limb-girdle muscular dystrophy type 2S 1
paths to the root