Term:muscular dystrophy-dystroglycanopathy type B6
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Accession:DOID:0110637 term browser browse the term
Definition:A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12. (DO)
Synonyms:exact_synonym: CONGENITAL MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY WITH MENTAL RETARDATION, TYPE B6;   MDC1D;   MDDGB6;   MUSCULAR DYSTROPHY, CONGENITAL, LARGE-RELATED;   Muscular Dystrophy, Congenital, Type 1D;   muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
 primary_id: MESH:C563844
 alt_id: OMIM:608840;   RDO:0009250;   RDO:0012998
 xref: ORDO:98894
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muscular dystrophy-dystroglycanopathy type B6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Large1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 19 12,481,563 12,945,320 RGD:1358756

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  disease 14926
    Developmental Diseases 7774
      Neurodevelopmental Disorders 2768
        intellectual disability 1596
          muscular dystrophy-dystroglycanopathy type B6 1
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 type B6 1
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