Axenfeld-Rieger syndrome

Summary
Synonym
  • Anomaly, Rieger's
  • Axenfeld syndrome
  • RGS - Rieger syndrome
  • Rieger's anomaly
Definition
An eye disease characterized by abnormalities of the front part of the eye, the anterior segment.
Super Class
autosomal dominant disease eye disease
External Links
Disease Ontology
DOID:14686
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
Related Genes
Displaying all 9 entries
Gene ID Gene Symbol Description Source
1545 CYP1B1 cytochrome P450 family 1 subfamily B member 1
2218 FKTN fukutin
5730 PTGDS prostaglandin D2 synthase
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
10585 POMT1 protein O-mannosyltransferase 1
29954 POMT2 protein O-mannosyltransferase 2
79147 FKRP fukutin related protein
145173 B3GLCT beta 3-glucosyltransferase
729920 CRPPA CDP-L-ribitol pyrophosphorylase A

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024