Term Name: | Axenfeld-Rieger syndrome type 3 |
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Synonyms: | anterior chamber cleavage syndrome, anterior segment mesenchymal dysgenesis, Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss, RIEG3, Rieger syndrome type 3 |
Definition: | An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25. |
Ontology: | Human Disease [DOID:0110122] ( DOID:0110122 ) |