Metadata | |
---|---|
ID | DOID:0050630 |
Name | Aland Island eye disease |
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. https://www.omim.org/entry/300600 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
Forsius-Eriksson syndrome [EXACT] FORSIUS-ERIKSSON TYPE OCULAR ALBINISM [EXACT] |
Parent Relationships |
is_a eye disease |