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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 Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:11554173
G Hmgn2 high mobility group nucleosomal binding domain 2 JBrowse link 5 152,195,359 152,198,813 RGD:13592920
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:11554173
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:7240710
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    syndrome 5231
      Axenfeld-Rieger syndrome 31
        Axenfeld-Rieger syndrome type 1 5
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        peripheral nervous system disease 2163
          neuropathy 1987
            neuromuscular disease 1558
              muscular disease 1000
                muscle tissue disease 693
                  atrophic muscular disease 281
                    muscular dystrophy 279
                      myotonic disease 18
                        myotonic dystrophy type 1 9
                          Axenfeld-Rieger syndrome type 1 5
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