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anterior segment dysgenesis 6
Summary
- Definition
- An anterior segment dysgenesis that has_material_basis_in compound heterozygous mutation in the CYP1B1 gene on chromosome 2p22.
- Super Class
- anterior segment dysgenesis
External Links
- Disease Ontology
- DOID:0080611
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011484 | Posterior synechiae of the anterior chamber |
| HP:0001087 | Developmental glaucoma |
| HP:0011496 | Corneal neovascularization |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0011490 | Abnormal Descemet membrane morphology |
| HP:0007957 | Corneal opacity |
