Axenfeld-Rieger syndrome type 1

Summary

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

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pitx2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008386 - Axenfeld-Rieger syndrome type 1

MONDO:0008386 - Axenfeld-Rieger syndrome type 1

OMIM:

OMIM:180500 - AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1

OMIM:180500 - AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1

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)