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ONTOLOGY REPORT - ANNOTATIONS


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
RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Neurodevelopmental Disorders 2745
        intellectual disability 1146
          muscular dystrophy-dystroglycanopathy type B6 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        peripheral nervous system disease 1998
          neuropathy 1823
            neuromuscular disease 1406
              muscular disease 902
                muscle tissue disease 631
                  atrophic muscular disease 243
                    muscular dystrophy 242
                      congenital muscular dystrophy 60
                        muscular dystrophy-dystroglycanopathy 16
                          muscular dystrophy-dystroglycanopathy type B6 1
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