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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 2T
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Accession:DOID:0110294 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 GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21. (DO)
Synonyms:exact_synonym: LGMD2T;   MDDGC14;   muscular dystrophy limb-girdle type 2T;   muscular dystrophy-dystroglycanopathy (limb-girdle) type C14;   muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related
 primary_id: OMIM:615352
 xref: ORDO:363623
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive limb-girdle muscular dystrophy type 2T term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by OMIM:615352
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C14
OMIM
ClinVar
PMID:19901254 PMID:23768512 PMID:23894383 PMID:24033266 PMID:24780531 PMID:25326637 PMID:25681410 PMID:25741868 PMID:25770200 PMID:26133662 PMID:26310427 PMID:27147698 PMID:27527004 PMID:27766311 PMID:27874200 PMID:28478914 PMID:28492532 PMID:28554332 PMID:28877744 PMID:28914264 PMID:29437916 PMID:30060766 PMID:30257713 PMID:30684953 NCBI chr 8:116,826,251...116,856,159
Ensembl chr 8:116,826,680...116,856,159
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              autosomal recessive disease 2668
                autosomal recessive limb-girdle muscular dystrophy 103
                  autosomal recessive limb-girdle muscular dystrophy type 2T 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        peripheral nervous system disease 2430
          neuropathy 2245
            neuromuscular disease 1766
              muscular disease 1168
                muscle tissue disease 790
                  myopathy 643
                    muscular dystrophy 312
                      limb-girdle muscular dystrophy 144
                        autosomal recessive limb-girdle muscular dystrophy 103
                          autosomal recessive limb-girdle muscular dystrophy type 2T 1
paths to the root