Version: 8.0.0
Date: Tue Jan 28 2025
2 results
Disease Genes: lrat (Xtr)

retinitis pigmentosa

Disease
Source: DOID:10584
Definition: A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.
Genes: lrat (Xtr)

Leber congenital amaurosis 14

Disease
Source: DOID:0110188
Definition: A Leber congenital amaurosis that has_material_basis_in mutation in the LRAT gene on chromosome 4q31.
Genes: lrat (Xtr)