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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;   congenital muscular dystrophy, POMT1-related
 primary_id: OMIM:613155
 alt_id: RDO:0009888
For additional species annotation, visit the Alliance of Genome Resources.


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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 15602
    Developmental Diseases 8837
      Neurodevelopmental Disorders 4090
        intellectual disability 1718
          Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1 1
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        peripheral nervous system disease 2163
          neuropathy 1987
            neuromuscular disease 1558
              muscular disease 1000
                muscle tissue disease 693
                  myopathy 559
                    muscular dystrophy 279
                      congenital muscular dystrophy 52
                        muscular dystrophy-dystroglycanopathy 24
                          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.