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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
![Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries](img/icons/info1.png)
MONDO:0008386 - Axenfeld-Rieger syndrome type 1 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
Axenfeld-Rieger syndrome (is_a)