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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 2M
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Accession:DOID:0110296 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 fukutin (FKTN) on chromosome 9q31. (DO)
Synonyms:exact_synonym: LGMD2M;   LGMDR13;   MDDGC4;   autosomal recessive limb-girdle muscular dystrophy 13;   limb-girdle muscular dystrophy type 2M;   limb-girdle muscular dystrophy-dystroglycanopathy, type C4;   muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4
 primary_id: MESH:C566912
 alt_id: MIM:611588
 xref: ORDO:206554


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autosomal recessive limb-girdle muscular dystrophy type 2M term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fktn fukutin ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2M | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 OMIM
ClinVar		 PMID:10545611 PMID:11165248 PMID:14627679 PMID:17034757 PMID:17044012 More... NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    Developmental Disease 14601
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          monogenic disease 10822
            autosomal genetic disease 10302
              autosomal recessive disease 6943
                autosomal recessive limb-girdle muscular dystrophy 143
                  autosomal recessive limb-girdle muscular dystrophy type 2M 1
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        peripheral nervous system disease 4274
          neuropathy 4059
            neuromuscular disease 3200
              muscular disease 2219
                muscle tissue disease 1347
                  atrophic muscular disease 667
                    Brody myopathy 663
                      muscular dystrophy 647
                        limb-girdle muscular dystrophy 231
                          autosomal recessive limb-girdle muscular dystrophy 143
                            autosomal recessive limb-girdle muscular dystrophy type 2M 1
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