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ONTOLOGY REPORT - ANNOTATIONS


Term:Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1
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Accession:DOID:9001544 term browser browse the term
Synonyms:exact_synonym: MDDGB1;   MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED
 primary_id: OMIM:613155;   RDO:0009888
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Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Neurodevelopmental Disorders 2761
        intellectual disability 1589
          Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        peripheral nervous system disease 2004
          neuropathy 1820
            neuromuscular disease 1392
              muscular disease 887
                muscle tissue disease 613
                  myopathy 494
                    muscular dystrophy 223
                      congenital muscular dystrophy 48
                        muscular dystrophy-dystroglycanopathy 15
                          Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1 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.