Axenfeld-Rieger syndrome type 1
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.
MONDO:0019187
Axenfeld-Rieger syndrome
is_a
Axenfeld-Rieger syndrome caused by mutation in PITX2
exact
Axenfeld-Rieger syndrome type 1
exact
Axenfeld-Rieger syndrome, type 1
related
PITX2 Axenfeld-Rieger syndrome
exact
RIEG1
exact
Rieger syndrome type 1
exact