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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 chr14:57,827,841...57,874,100
Ensembl chr14:77,029,625...77,075,806
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12824
    Developmental Diseases 9082
      Neurodevelopmental Disorders 4495
        intellectual disability 2189
          Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2 1
Path 2
Term Annotations click to browse term
  disease 12824
    disease of anatomical entity 12356
      nervous system disease 10093
        peripheral nervous system disease 2301
          neuropathy 2140
            neuromuscular disease 1686
              muscular disease 1104
                muscle tissue disease 739
                  atrophic muscular disease 290
                    muscular dystrophy 288
                      congenital muscular dystrophy 70
                        muscular dystrophy-dystroglycanopathy 37
                          Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2 1
paths to the root