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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 (Congenital with Impaired Intellectual Development), type B, 14
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Accession:DOID:9000748 term browser browse the term
Synonyms:exact_synonym: MDDGB14;   congenital muscular dystrophy, GMPPB-related;   muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14
 primary_id: OMIM:615351
For additional species annotation, visit the Alliance of Genome Resources.



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Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 OMIM
ClinVar
PMID:19901254 PMID:23768512 PMID:23894383 PMID:24033266 PMID:24780531 More... NCBI chr 8:108,737,429...108,767,286
Ensembl chr 8:108,693,060...108,767,286
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    physical disorder 4045
      congenital muscular dystrophy 116
        muscular dystrophy-dystroglycanopathy 69
          Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        peripheral nervous system disease 2974
          neuropathy 2766
            neuromuscular disease 2185
              muscular disease 1417
                muscle tissue disease 934
                  atrophic muscular disease 419
                    muscular dystrophy 417
                      congenital muscular dystrophy 116
                        muscular dystrophy-dystroglycanopathy 69
                          Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14 1
paths to the root