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megalocornea
Summary
- Synonym
-
- anterior megalophthalmos
- congenital anterior megalophthalmia
- Definition
- A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene.
- Super Class
- X-linked recessive disease corneal disease
External Links
- Disease Ontology
- DOID:0060305
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2218 | FKTN | fukutin | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 29925 | GMPPB | GDP-mannose pyrophosphorylase B | |
| 29954 | POMT2 | protein O-mannosyltransferase 2 | |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
| 79147 | FKRP | fukutin related protein | |
| 79158 | GNPTAB | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | |
| 81031 | SLC2A10 | solute carrier family 2 member 10 | |
| 84197 | POMK | protein O-mannose kinase |
Related Glycoprotein
