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choroidal atrophy-alopecia syndrome

Disease Summary
Associated Targets ()

Mondo Description Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.
Mondo Term and Equivalent IDs
MONDO:0015428:  choroidal atrophy-alopecia syndrome
GARD:0003704: 
MESH:C535810: 
Orphanet:1433: 
SCTID:720850008: 
UMLS:C2931026: