Axenfeld-Rieger syndrome type 1

Axenfeld-Rieger syndrome type 1: An Axenfeld-Rieger syndrome that has material basis in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25. ...1

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Axenfeld-Rieger syndrome type 1: An Axenfeld-Rieger syndrome that has material basis in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25. ...2

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Symptoms of Axenfeld-Rieger syndrome type 1

Clinical features: Imported from Human Phenotype Ontology (HPO)

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Genetics of Axenfeld-Rieger syndrome type 1

Modes of inheritance: Autosomal dominant inheritance (HPO) ...Source: GTR (NCBI/NIH)3 ...

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Treatments

See also the following treatment articles:

Names and Terminology

Synonyms: Axenfeld-Rieger syndrome ; Rieger syndrome type 1 ...Source: GTR (NCBI/NIH)4 ...

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References

  1. Source: Disease Ontology
  2. Source: Monarch Initiative
  3. Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C3714873/ 
  4. ibid.

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