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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 B2
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Accession:DOID:0112380 term browser browse the term
Definition:A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. (DO)
Synonyms:exact_synonym: MDDGB2;   Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2;   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: MIM:613156
 alt_id: DOID:9005669
 xref: NCI:C126690


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muscular dystrophy-dystroglycanopathy type B2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomt2 protein-O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED OMIM
ClinVar		 PMID:9536098 PMID:15894594 PMID:16701995 PMID:17559086 PMID:17576681 More... NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:112,486,416...112,525,799 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Neurodevelopmental Disorders 6988
        intellectual disability 4415
          muscular dystrophy-dystroglycanopathy type B2 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        peripheral nervous system disease 4409
          neuropathy 4194
            neuromuscular disease 3236
              muscular disease 2244
                muscle tissue disease 1363
                  myopathy 1058
                    muscular dystrophy 659
                      congenital muscular dystrophy 213
                        muscular dystrophy-dystroglycanopathy 91
                          muscular dystrophy-dystroglycanopathy type B 19
                            muscular dystrophy-dystroglycanopathy type B2 1
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