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hydrophthalmos
Summary
- Definition
- A primary congenital glaucoma characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure and increased corneal diameter and has_symptom early vision loss, increased corneal diameter, and increased corneal thickness. Hydrophthalmus is caused by congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss.
- Super Class
- primary congenital glaucoma
External Links
- Disease Ontology
- DOID:11212
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 414 | ARSD | arylsulfatase D | |
| 1545 | CYP1B1 | cytochrome P450 family 1 subfamily B member 1 | |
| 1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
| 1605 | DAG1 | dystroglycan 1 | |
| 2218 | FKTN | fukutin | |
| 2530 | FUT8 | fucosyltransferase 8 | |
| 4952 | OCRL | OCRL inositol polyphosphate-5-phosphatase | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 9469 | CHST3 | carbohydrate sulfotransferase 3 |
Related Glycoprotein
