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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 Pold1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 14 ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:26648538 PMID:27854218 PMID:28492532 PMID:28608266 PMID:29212164 PMID:29987844 PMID:30083234 PMID:31285513 PMID:31449058 NCBI chr 1:100,538,066...100,554,105
Ensembl chr 1:100,537,900...100,554,488
JBrowse link
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:9536098 PMID:17576681 PMID:17878207 PMID:17923109 PMID:18414213 PMID:18513969 PMID:18752264 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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        genetic disease 8399
          monogenic disease 6338
            autosomal genetic disease 5493
              autosomal recessive disease 3229
                autosomal recessive limb-girdle muscular dystrophy 106
                  autosomal recessive limb-girdle muscular dystrophy type 2N 2
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        peripheral nervous system disease 2421
          neuropathy 2233
            neuromuscular disease 1780
              muscular disease 1191
                muscle tissue disease 814
                  myopathy 650
                    muscular dystrophy 315
                      limb-girdle muscular dystrophy 147
                        autosomal recessive limb-girdle muscular dystrophy 106
                          autosomal recessive limb-girdle muscular dystrophy type 2N 2
paths to the root