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Summary Literature (0)
DOID:0110120 - Axenfeld-Rieger syndrome type 1

Disease Ontology Definition:An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25.

Synonyms: RIEG1, Rieger syndrome type 1

Xenbase Genes : pitx2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008386 - Axenfeld-Rieger syndrome type 1


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Axenfeld-Rieger syndrome (is_a)