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

choroideremia

Disease Summary
Associated Targets (4)
Tbio

4


GARD Rare
Mondo Description Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.
Uniprot Description An X-linked recessive disease characterized by a slowly progressive degeneration of the choroid, photoreceptors, and retinal pigment epithelium. Affected males develop night blindness in their teenage years followed by loss of peripheral vision and complete blindness at middle age. Carrier females are generally asymptomatic but funduscopic examination often shows patchy areas of chorioretinal atrophy.
Mondo Term and Equivalent IDs
MONDO:0010557:  choroideremia
GARD:0006061: 
ICD10:H31.21: 
ICD9:363.55: 
MESH:D015794: 
NCIT:C34469: 
Orphanet:180: 
SCTID:75241009: 
UMLS:C0008525: