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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
| 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 |
Related Glycoprotein
