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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 2P
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Accession:DOID:0110293 term browser browse the term
Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21. (DO)
Synonyms:exact_synonym: LGMD2P;   MDDGC9;   MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P;   MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DAG1-RELATED;   muscular dystrophy-dystroglycanopathy (limb-girdle) type C9
 primary_id: OMIM:613818
 alt_id: RDO:9000584
 xref: ORDO:280333
For additional species annotation, visit the Alliance of Genome Resources.

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autosomal recessive limb-girdle muscular dystrophy type 2P term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMT aminomethyltransferase ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr13:31,995,600...32,002,514
Ensembl chr13:31,995,595...32,002,470 		JBrowse link
G C13H3orf62 chromosome 13 C3orf62 homolog ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr13:31,840,281...31,848,825
Ensembl chr13:31,826,945...31,904,240 		JBrowse link
G C13H3orf84 chromosome 13 C3orf84 homolog ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr13:31,780,619...31,790,704
Ensembl chr13:31,781,278...31,792,629 		JBrowse link
G CCDC71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr13:31,763,802...31,771,260
Ensembl chr13:31,767,492...31,771,218 		JBrowse link
G DAG1 dystroglycan 1 ISO OMIM NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,329...32,092,453 		JBrowse link
G GPX1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,914,932...31,917,335 		JBrowse link
G IHO1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr13:31,802,963...31,836,911
Ensembl chr13:31,775,668...31,836,911 		JBrowse link
G KLHDC8B kelch domain containing 8B ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr13:31,775,339...31,780,483
Ensembl chr13:31,775,694...31,780,484 		JBrowse link
G LAMB2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr13:31,738,282...31,750,623
Ensembl chr13:31,738,284...31,771,220 		JBrowse link
G NICN1 nicolin 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr13:32,002,658...32,007,266
Ensembl chr13:32,002,658...32,007,217 		JBrowse link
G RHOA ras homolog family member A ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr13:31,918,484...31,991,207
Ensembl chr13:31,918,836...32,003,722 		JBrowse link
G TCTA T cell leukemia translocation altered ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr13:31,991,408...31,995,274
Ensembl chr13:31,991,567...31,998,168 		JBrowse link
G USP4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr13:31,844,780...31,904,418
Ensembl chr13:31,840,300...31,904,348 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12693
    Developmental Diseases 8990
      Neurodevelopmental Disorders 4417
        intellectual disability 2136
          autosomal recessive limb-girdle muscular dystrophy type 2P 13
Path 2
Term Annotations click to browse term
  disease 12693
    disease of anatomical entity 12233
      nervous system disease 9973
        peripheral nervous system disease 2315
          neuropathy 2154
            neuromuscular disease 1698
              muscular disease 1116
                muscle tissue disease 750
                  atrophic muscular disease 293
                    muscular dystrophy 291
                      limb-girdle muscular dystrophy 140
                        autosomal recessive limb-girdle muscular dystrophy 100
                          autosomal recessive limb-girdle muscular dystrophy type 2P 13
paths to the root