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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,
Echinobase Genes : pitx2
MIM:180500 - axenfeld-rieger syndrome, type 1; rieg1 |
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)