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

choroideremia-deafness-obesity syndrome

Disease Summary
Associated Targets (0)

Explore Associated Targets
Mondo Description Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.
Mondo Term and Equivalent IDs
MONDO:0010558:  choroideremia-deafness-obesity syndrome
GARD:0000369: 
MESH:C537793: 
Orphanet:1435: 
SCTID:717761005: 
UMLS:C1844836: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found