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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive limb-girdle muscular dystrophy type 2N
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Accession:DOID:0110298 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 POMT2 gene on chromosome 14q24.3. (DO)
Synonyms:exact_synonym: LGMD2N;   MDDGC2;   MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMT2-RELATED;   limb-girdle muscular dystrophy, type 2N;   limb-girdle muscular dystrophy-dystroglycanopathy, type C2;   muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2
 primary_id: OMIM:613158
 alt_id: RDO:0009891
 xref: ORDO:206559
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive limb-girdle muscular dystrophy type 2N term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      musculoskeletal system disease 4281
        muscular disease 958
          atrophic muscular disease 278
            muscular dystrophy 276
              limb-girdle muscular dystrophy 121
                autosomal recessive limb-girdle muscular dystrophy 105
                  autosomal recessive limb-girdle muscular dystrophy type 2N 1
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        peripheral nervous system disease 2126
          neuropathy 1949
            neuromuscular disease 1521
              muscular disease 958
                muscle tissue disease 685
                  myopathy 551
                    muscular dystrophy 276
                      limb-girdle muscular dystrophy 121
                        autosomal recessive limb-girdle muscular dystrophy 105
                          autosomal recessive limb-girdle muscular dystrophy type 2N 1
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