Axenfeld-Rieger syndrome type 1

Definition

A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth.

Also known as Axenfeld-Rieger syndrome caused by mutation in PITX2, Axenfeld-Rieger syndrome type 1, PITX2 Axenfeld-Rieger syndrome, RIEG1, Rieger syndrome type 1 — per MONDO

Also identified as

• DOID 0110120 per MONDO
• NCIT C75015 per MONDO
• OMIM 180500 per MONDO
• UMLS C3714873 per MONDO