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ONTOLOGY REPORT - ANNOTATIONS


Term:muscular dystrophy-dystroglycanopathy type B5
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Accession:DOID:0110635 term browser browse the term
Definition:A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3. (DO)
Synonyms:exact_synonym: MDC1C;   MDDGB5;   MUSCULAR DYSTROPHY, CONGENITAL, 1C;   MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED;   muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
 narrow_synonym: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B5;   Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5
 primary_id: MESH:C564691
 alt_id: OMIM:606612;   RDO:0009040;   RDO:0013564
 xref: ORDO:52428
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muscular dystrophy-dystroglycanopathy type B5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:7240710
RGD:8554872
RGD:1358626

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Path 1
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          congenital muscular dystrophy 50
            muscular dystrophy-dystroglycanopathy 24
              muscular dystrophy-dystroglycanopathy type B5 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        peripheral nervous system disease 2127
          neuropathy 1950
            neuromuscular disease 1522
              muscular disease 959
                muscle tissue disease 685
                  atrophic muscular disease 279
                    muscular dystrophy 277
                      congenital muscular dystrophy 50
                        muscular dystrophy-dystroglycanopathy 24
                          muscular dystrophy-dystroglycanopathy type B5 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.