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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Neurodevelopmental Disorders 4302
        intellectual disability 1940
          Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), type B, 14 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        peripheral nervous system disease 2367
          neuropathy 2183
            neuromuscular disease 1718
              muscular disease 1129
                muscle tissue disease 758
                  atrophic muscular disease 309
                    muscular dystrophy 307
                      congenital muscular dystrophy 68
                        muscular dystrophy-dystroglycanopathy 36
                          Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), type B, 14 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.