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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

GARD:10574

MESH:C562664

OMIM:300600

Subsets

DO_rare_slim

Synonyms

Forsius-Eriksson syndrome [EXACT]

FORSIUS-ERIKSSON TYPE OCULAR ALBINISM [EXACT]

Parent Relationships

is_a eye disease

is_a X-linked recessive disease

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