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Axenfeld-Rieger syndrome

Disease Summary
Associated Targets (3)
Tbio

3


GARD Rare
Mondo Description Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.
Disease Ontology Description An autosomal dominant disease characterized by abnormalities of the front part of the eye, the anterior segment.
Mondo Term and Equivalent IDs
MONDO:0019187:  Axenfeld-Rieger syndrome
GARD:0005701: 
MESH:C535679: 
NCIT:C131001: 
OMIMPS:180500: 
Orphanet:782: 
SCTID:47507006: 
UMLS:C3495488: 
UMLS:CN776842: