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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)
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11/05/2024
MGI 6.24 		The Jackson Laboratory