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ONTOLOGY REPORT - ANNOTATIONS


Term:Fukuyama congenital muscular dystrophy
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Accession:DOID:0050559 term browser browse the term
Definition:A congenital muscular dystrophy that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein. (DO)
Synonyms:exact_synonym: MDDGA4;   Walker-Warburg Syndrome, Fktn-Related;   Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related;   muscular dystrophy due to defective glycosylation of dystroglycan 4A;   muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A4
 primary_id: MESH:C567727
 alt_id: OMIM:253800;   RDO:0008392;   RDO:0015716
 xref: GARD:6475;   ORDO:272
For additional species annotation, visit the Alliance of Genome Resources.


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Fukuyama congenital muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:11537476
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:8554872
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:7240710
RGD:11537476
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Walker-Warburg syndrome 27
        congenital muscular dystrophy-dystroglycanopathy type A 24
          Fukuyama congenital muscular dystrophy 3
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        peripheral nervous system disease 2125
          neuropathy 1948
            neuromuscular disease 1520
              muscular disease 957
                muscle tissue disease 684
                  myopathy 549
                    muscular dystrophy 277
                      congenital muscular dystrophy 50
                        muscular dystrophy-dystroglycanopathy 24
                          congenital muscular dystrophy-dystroglycanopathy type A 24
                            Fukuyama congenital muscular dystrophy 3
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