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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:Congenital Disorder of Glycosylation Type 1O
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Accession:DOID:9006227 term browser browse the term
Synonyms:exact_synonym: CDG Io;   CDG1(DPM3);   CDG1o;   CDGIo;   MDDGC15;   congenital disorder of glycosylation, type Io;   muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15;   muscular dystrophy-dystroglycanopathy, limb-girdle, DPM3-related
 primary_id: MESH:C567857
 alt_id: OMIM:612937
For additional species annotation, visit the Alliance of Genome Resources.



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Congenital Disorder of Glycosylation Type 1O term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1O | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DPM3-RELATED OMIM
ClinVar
PMID:19576565 PMID:28492532 PMID:29246662 PMID:31469168 NCBI chr 2:174,676,532...174,677,047
Ensembl chr 2:174,676,363...174,677,668
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    physical disorder 4312
      congenital disorder of glycosylation 301
        congenital disorder of glycosylation type I 136
          Congenital Disorder of Glycosylation Type 1O 1
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13207
        peripheral nervous system disease 3056
          neuropathy 2837
            neuromuscular disease 2227
              muscular disease 1455
                muscle tissue disease 949
                  myopathy 778
                    muscular dystrophy 420
                      limb-girdle muscular dystrophy 187
                        autosomal recessive limb-girdle muscular dystrophy 116
                          Congenital Disorder of Glycosylation Type 1O 1
paths to the root