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 14926
    Developmental Diseases 7774
      Neurodevelopmental Disorders 2768
        intellectual disability 1596
          Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), type B, 14 2
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        peripheral nervous system disease 2018
          neuropathy 1839
            neuromuscular disease 1413
              muscular disease 909
                muscle tissue disease 636
                  myopathy 523
                    muscular dystrophy 244
                      congenital muscular dystrophy 61
                        muscular dystrophy-dystroglycanopathy 16
                          Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), type B, 14 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.