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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 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;   LGMDR14;   MDDGC2;   limb-girdle muscular dystrophy, autosomal recessive 14;   limb-girdle muscular dystrophy, type 2N;   limb-girdle muscular dystrophy-dystroglycanopathy, POMT2-related;   limb-girdle muscular dystrophy-dystroglycanopathy, type C2;   muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2
 primary_id: OMIM:613158
 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomt2 protein-O-mannosyltransferase 2 ISO ClinVar Annotator: match by OMIM:613158
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C2
OMIM
ClinVar
PMID:17878207, PMID:17923109, PMID:18414213, PMID:18513969, PMID:19299310, PMID:24033266, PMID:25741868, PMID:26467025, PMID:27854218, PMID:28492532, PMID:30060766 NCBI chr 6:111,137,329...111,176,991
Ensembl chr 6:111,135,349...111,176,918
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                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 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        peripheral nervous system disease 2475
          neuropathy 2296
            neuromuscular disease 1777
              muscular disease 1199
                muscle tissue disease 811
                  myopathy 668
                    muscular dystrophy 327
                      limb-girdle muscular dystrophy 147
                        autosomal recessive limb-girdle muscular dystrophy 105
                          autosomal recessive limb-girdle muscular dystrophy type 2N 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.