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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 chr 3:49,344,590...49,350,383
Ensembl chr 3:50,589,193...50,594,968 		JBrowse link
G C3H3orf62 chromosome 3 C3orf62 homolog ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 3:49,191,640...49,199,806
Ensembl chr 3:50,273,460...50,279,995 		JBrowse link
G C3H3orf84 chromosome 3 C3orf84 homolog ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 3:49,100,962...49,115,215
Ensembl chr 3:50,180,907...50,195,215 		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 chr 3:49,085,870...49,089,723 JBrowse link
G DAG1 dystroglycan 1 ISO OMIM NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852 		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 chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826 		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 chr 3:49,122,120...49,181,228
Ensembl chr 3:50,239,250...50,259,890 		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 chr 3:49,094,203...49,099,818
Ensembl chr 3:50,174,393...50,179,759 		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 chr 3:49,045,419...49,057,340
Ensembl chr 3:50,125,460...50,137,074 		JBrowse link
G LOC100967331 ubiquitin carboxyl-terminal hydrolase 4 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 3:49,199,328...49,263,861
Ensembl chr 3:50,279,642...50,343,903 		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 chr 3:49,350,753...49,357,161
Ensembl chr 3:50,595,232...50,601,612 		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 chr 3:49,282,009...49,339,887 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 chr 3:49,340,010...49,344,288 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12821
    Developmental Diseases 9077
      Neurodevelopmental Disorders 4495
        intellectual disability 2189
          autosomal recessive limb-girdle muscular dystrophy type 2P 13
Path 2
Term Annotations click to browse term
  disease 12821
    disease of anatomical entity 12353
      nervous system disease 10088
        peripheral nervous system disease 2301
          neuropathy 2140
            neuromuscular disease 1686
              muscular disease 1104
                muscle tissue disease 739
                  atrophic muscular disease 290
                    muscular dystrophy 288
                      limb-girdle muscular dystrophy 137
                        autosomal recessive limb-girdle muscular dystrophy 99
                          autosomal recessive limb-girdle muscular dystrophy type 2P 13
paths to the root