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

Leber congenital amaurosis

Disease Summary
Associated Targets (37)
Tbio

32

Tchem

3

Tclin

2


GARD Rare
Mondo Description Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.
Disease Ontology Description A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.
Mondo Term and Equivalent IDs
MONDO:0018998:  Leber congenital amaurosis
GARD:0000634: 
MESH:D057130: 
NCIT:C129075: 
OMIMPS:204000: 
Orphanet:65: 
SCTID:193413001: 
UMLS:C0339527: