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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 mental retardation), Type B, 2
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Accession:DOID:9005669 term browser browse the term
Synonyms:exact_synonym: MDDGB2;   congenital muscular dystrophy, POMT2-related;   congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development, type B2;   congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2
 primary_id: OMIM:613156
 xref: NCI:C126690
For additional species annotation, visit the Alliance of Genome Resources.


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Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMT2 protein O-mannosyltransferase 2 ISO OMIM NCBI chr 7:100,350,451...100,392,164
Ensembl chr 7:100,350,460...100,417,173
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13430
    Developmental Disease 9916
      Neurodevelopmental Disorders 5410
        intellectual disability 3287
          Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2 1
Path 2
Term Annotations click to browse term
  disease 13430
    disease of anatomical entity 13094
      nervous system disease 10829
        peripheral nervous system disease 2307
          neuropathy 2143
            neuromuscular disease 1712
              muscular disease 1138
                muscle tissue disease 773
                  atrophic muscular disease 296
                    muscular dystrophy 294
                      congenital muscular dystrophy 70
                        muscular dystrophy-dystroglycanopathy 38
                          Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2 1
paths to the root