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ring dermoid of cornea

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition.
Uniprot Description An ocular disorder characterized by bilateral annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension.
Mondo Term and Equivalent IDs
MONDO:0008387:  ring dermoid of cornea
DOID:0111548: 
GARD:0009696: 
MESH:C535684: 
Orphanet:91481: 
SCTID:723499000: 
UMLS:C1867155: