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ONTOLOGY REPORT - ANNOTATIONS


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;   MDDGC1;   POMT1-related muscle-eye-brain disease;   POMT1-related muscle-eye-brain diseases;   WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED;   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
 alt_id: RDO:0009305
 xref: ORDO:86812
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autosomal recessive limb-girdle muscular dystrophy type 2K term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:8554872
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      musculoskeletal system disease 4281
        muscular disease 959
          atrophic muscular disease 279
            muscular dystrophy 277
              limb-girdle muscular dystrophy 122
                autosomal recessive limb-girdle muscular dystrophy 106
                  autosomal recessive limb-girdle muscular dystrophy type 2K 2
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        peripheral nervous system disease 2127
          neuropathy 1950
            neuromuscular disease 1522
              muscular disease 959
                muscle tissue disease 685
                  myopathy 552
                    muscular dystrophy 277
                      limb-girdle muscular dystrophy 122
                        autosomal recessive limb-girdle muscular dystrophy 106
                          autosomal recessive limb-girdle muscular dystrophy type 2K 2
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