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Aland Island eye disease
Summary
- Synonym
-
- FORSIUS-ERIKSSON TYPE OCULAR ALBINISM
- Forsius-Eriksson syndrome
- Definition
- An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene.
- Super Class
- X-linked recessive disease eye disease
External Links
- Disease Ontology
- DOID:0050630
- Mondo Disease Ontology
- MeSH
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60840 | Voltage-dependent L-type calcium channel subunit alpha-1F |
