Version: 8.0.0
Date: Tue Jan 28 2025
6 results
Disease Genes: crb (Dme)

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: crb (Dme)

cone-rod dystrophy

Disease
Source: DOID:0050572
Definition: A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells.
Genes: crb (Dme)

Leber congenital amaurosis

Disease
Source: DOID:14791
Definition: A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.
Genes: crb (Dme)

retinitis pigmentosa 12

Disease
Source: DOID:0110358
Definition: A retinitis pigmentosa that has_material_basis_in mutation in the CRB1 gene on chromosome 1q31.3.
Genes: crb (Dme)

Leber congenital amaurosis 8

Disease
Source: DOID:0110079
Definition: A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the CRB1 gene on chromosome 1q31-q32.
Genes: crb (Dme)

pigmented paravenous chorioretinal atrophy

Disease
Source: DOID:0111541
Definition: An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in the CRB1 gene on chromosome 1q31.3.
Genes: crb (Dme)