You are using an outdated browser. Please upgrade your browser to improve your experience.

Newfoundland cone-rod dystrophy

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene.
Uniprot Description A rod-cone dystrophy reminiscent of retinitis punctata albescens but with a substantially lower age at onset and more-rapid and distinctive progression. Rod-cone dystrophies results from initial loss of rod photoreceptors, later followed by cone photoreceptors loss.
Mondo Term and Equivalent IDs
MONDO:0011839:  Newfoundland cone-rod dystrophy
MESH:C564391: 
UMLS:C1843815: