Term:Axenfeld-Rieger syndrome type 1
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Accession:DOID:0110120 term browser browse the term
Definition:An Axenfeld-Rieger syndrome that has material basis in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25. (DO)
Synonyms:exact_synonym: RGS;   RIEG;   RIEG1;   Rieger syndrome type 1
 primary_id: OMIM:180500
 alt_id: RDO:0008146
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Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hmgn2 high mobility group nucleosomal binding domain 2 JBrowse link NW_004955452 5,846,085 5,849,996 RGD:9068941
G Pax6 paired box 6 JBrowse link NW_004955476 10,058,979 10,074,668 RGD:9068941
G Pitx2 paired like homeodomain 2 JBrowse link NW_004955457 15,803,493 15,823,193 RGD:9068941
G Prdm5 PR/SET domain 5 JBrowse link NW_004955428 19,684,721 19,881,716 RGD:9068941

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Path 1
Term Annotations click to browse term
  disease 10597
    syndrome 4037
      Axenfeld-Rieger syndrome 29
        Axenfeld-Rieger syndrome type 1 4
Path 2
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  disease 10597
    disease of anatomical entity 10140
      nervous system disease 7791
        peripheral nervous system disease 1864
          neuropathy 1706
            neuromuscular disease 1307
              muscular disease 842
                muscle tissue disease 586
                  atrophic muscular disease 231
                    muscular dystrophy 229
                      myotonic disease 17
                        myotonic dystrophy type 1 8
                          Axenfeld-Rieger syndrome type 1 4
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