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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 2O
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Accession:DOID:0110292 term browser browse the term
Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34. (DO)
Synonyms:exact_synonym: LGMD2O;   LGMDR15;   MDDGC3;   autosomal recessive limb-girdle muscular dystrophy 15;   muscular dystrophy-dystroglycanopathy (limb-girdle) type C3;   muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related
 primary_id: OMIM:613157
 xref: ORDO:206564


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autosomal recessive limb-girdle muscular dystrophy type 2O term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LURAP1 leucine rich adaptor protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O ClinVar PMID:19299310 PMID:20816175 PMID:21447391 PMID:26908613 PMID:27391550 More... NCBI chr 6:165,187,707...165,208,191
Ensembl chr 6:165,188,925...165,207,730 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED OMIM
ClinVar		 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409 		JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 6:165,224,619...165,229,516
Ensembl chr 6:165,224,622...165,230,217 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15274
    Developmental Disease 13236
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12325
        genetic disease 11991
          monogenic disease 10030
            autosomal genetic disease 9258
              autosomal recessive disease 6457
                autosomal recessive limb-girdle muscular dystrophy 112
                  autosomal recessive limb-girdle muscular dystrophy type 2O 3
Path 2
Term Annotations click to browse term
  disease 15274
    disease of anatomical entity 14908
      nervous system disease 12991
        peripheral nervous system disease 4007
          neuropathy 3814
            neuromuscular disease 2987
              muscular disease 2096
                muscle tissue disease 1269
                  myopathy 983
                    muscular dystrophy 589
                      limb-girdle muscular dystrophy 192
                        autosomal recessive limb-girdle muscular dystrophy 112
                          autosomal recessive limb-girdle muscular dystrophy type 2O 3
paths to the root