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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:muscular dystrophy-dystroglycanopathy type C8
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Accession:DOID:0112382 term browser browse the term
Definition:A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1. (DO)
Synonyms:exact_synonym: Autosomal Recessive Limb-Girdle Muscular Dystrophy 24;   Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 24;   LGMDR24;   MDDGC8;   MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8;   MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT2-RELATED;   limb-girdle muscular dystrophy-dystroglycanopathy (type C8)
 primary_id: OMIM:618135
 alt_id: DOID:9001671


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muscular dystrophy-dystroglycanopathy type C8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 OMIM
ClinVar		 PMID:25741868 PMID:27066570 PMID:28492532 PMID:32570172 PMID:35131284 NCBI chr 3:42,973,492...42,997,288
Ensembl chr 3:44,035,815...44,037,557 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15686
    physical disorder 4931
      congenital muscular dystrophy 182
        muscular dystrophy-dystroglycanopathy 71
          muscular dystrophy-dystroglycanopathy type C8 1
Path 2
Term Annotations click to browse term
  disease 15686
    disease of anatomical entity 15297
      nervous system disease 13323
        peripheral nervous system disease 4053
          neuropathy 3860
            neuromuscular disease 3033
              muscular disease 2124
                muscle tissue disease 1279
                  atrophic muscular disease 604
                    muscular dystrophy 600
                      limb-girdle muscular dystrophy 196
                        autosomal recessive limb-girdle muscular dystrophy 110
                          muscular dystrophy-dystroglycanopathy type C8 1
paths to the root