About   Help   FAQ
Disease Ontology Browser
Axenfeld-Rieger syndrome type 1 (DOID:0110120)
Alliance: disease page
Synonyms: RIEG1; Rieger syndrome type 1
Alt IDs: OMIM:180500, ICD10CM:Q13.8
Definition: An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25.

Disease References using Mouse Models (8)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/19/2024
MGI 6.23
The Jackson Laboratory