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ONTOLOGY REPORT - ANNOTATIONS


Term:Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), type B, 14
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Accession:DOID:9000748 term browser browse the term
Synonyms:exact_synonym: MDDGB14;   MUSCULAR DYSTROPHY, CONGENITAL, GMPPB-RELATED
 primary_id: OMIM:615351
 alt_id: RDO:9000912
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Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), type B, 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gmppb GDP-mannose pyrophosphorylase B JBrowse link 8 116,826,251 116,856,159 RGD:7240710
RGD:8554872
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Neurodevelopmental Disorders 2745
        intellectual disability 1146
          Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), type B, 14 2
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        peripheral nervous system disease 1998
          neuropathy 1823
            neuromuscular disease 1406
              muscular disease 902
                muscle tissue disease 631
                  atrophic muscular disease 243
                    muscular dystrophy 242
                      congenital muscular dystrophy 60
                        muscular dystrophy-dystroglycanopathy 16
                          Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), type B, 14 2
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