Term Name:	Axenfeld-Rieger syndrome type 1
Synonyms:	RIEG1, Rieger syndrome type 1
Definition:	An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25.
Ontology:	Human Disease [DOID:0110120]   ( DOID:0110120 )