Axenfeld-Rieger syndrome type 3

Term ID

DOID:0110122

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. https://www.ncbi.nlm.nih.gov/pubmed/9792859

References

• ICD10CM:Q13.8
• OMIM:602482

Ontology

Human Disease   ( DOID:0110122 )