DISEASES

Disease-gene associations mined from literature

Human genes for DOID:0111441

DOID:0111441 [DOID:0111441]

An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in OPA1 on chromosome 3q29.