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primary congenital glaucoma
Summary
- Definition
- A glaucoma that is characterized by damage to the optic nerves that reduces peripheral vision and leads to blindness, has_material_basis_in mutation in the MYOC gene and appears before the age of 5 without other associated abnormalities.
- Super Class
- glaucoma monogenic disease physical disorder
External Links
- Disease Ontology
- DOID:0050593
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000541 | Retinal detachment |
| HP:0001052 | Nevus flammeus |
| HP:0000501 | Glaucoma |
| HP:0000572 | Visual loss |
