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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 2K
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Accession:DOID:0110297 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 protein O-mannosyltransferase (POMT1). (DO)
Synonyms:exact_synonym: LGMD2K;   LGMDR11;   MDDGC1;   POMT1-related muscle-eye-brain disease;   POMT1-related muscle-eye-brain diseases;   autosomal recessive limb-girdle muscular dystrophy 11;   limb-girdle muscular dystrophy, type 2K;   limb-girdle muscular dystrophy-dystroglycanopathy, type C1;   limb-girdle muscular dystrophy-intellectual disability syndrome;   muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1
 primary_id: OMIM:609308
 xref: EFO:0009145;   NCI:C133730;   ORDO:86812

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autosomal recessive limb-girdle muscular dystrophy type 2K term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chrNW_004936487:17,690,206...17,819,619
Ensembl chrNW_004936487:17,690,968...17,819,669 		JBrowse link
G Aif1l allograft inflammatory factor 1 like ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chrNW_004936487:17,961,922...17,979,721
Ensembl chrNW_004936487:17,961,854...17,979,749 		JBrowse link
G Exosc2 exosome component 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chrNW_004936487:17,675,401...17,686,224
Ensembl chrNW_004936487:17,675,303...17,687,943 		JBrowse link
G Fam78a family with sequence similarity 78 member A ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chrNW_004936487:18,086,085...18,096,656
Ensembl chrNW_004936487:18,083,859...18,096,699 		JBrowse link
G Fibcd1 fibrinogen C domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chrNW_004936487:17,830,895...17,861,952
Ensembl chrNW_004936487:17,830,219...17,862,057 		JBrowse link
G Lamc3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chrNW_004936487:17,910,673...17,958,641
Ensembl chrNW_004936487:17,915,104...17,957,596 		JBrowse link
G Nup214 nucleoporin 214 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chrNW_004936487:17,981,402...18,067,828
Ensembl chrNW_004936487:17,981,304...18,067,854 		JBrowse link
G Plpp7 phospholipid phosphatase 7 (inactive) ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chrNW_004936487:18,106,836...18,121,586
Ensembl chrNW_004936487:18,106,809...18,121,794 		JBrowse link
G Pomt1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K OMIM
ClinVar		 PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 More... NCBI chrNW_004936487:18,249,472...18,267,875
Ensembl chrNW_004936487:18,249,472...18,267,256 		JBrowse link
G Prdm12 PR/SET domain 12 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chrNW_004936487:17,656,311...17,670,074
Ensembl chrNW_004936487:17,656,311...17,670,477 		JBrowse link
G Prrc2b proline rich coiled-coil 2B ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chrNW_004936487:18,196,673...18,247,725
Ensembl chrNW_004936487:18,196,751...18,245,266 		JBrowse link
G Qrfp pyroglutamylated RFamide peptide ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chrNW_004936487:17,824,474...17,826,867
Ensembl chrNW_004936487:17,824,630...17,824,977 		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 2K 12
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 2K 12
paths to the root