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 14920
    syndrome 4714
      Axenfeld-Rieger syndrome 31
        Axenfeld-Rieger syndrome type 1 5
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        peripheral nervous system disease 2017
          neuropathy 1838
            neuromuscular disease 1413
              muscular disease 908
                muscle tissue disease 635
                  atrophic muscular disease 245
                    muscular dystrophy 244
                      myotonic disease 18
                        myotonic dystrophy type 1 9
                          Axenfeld-Rieger syndrome type 1 5
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