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tricho-retino-dento-digital syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.
Mondo Term and Equivalent IDs
MONDO:0008622:  tricho-retino-dento-digital syndrome
GARD:0000938: 
MESH:C536576: 
Orphanet:1264: 
SCTID:719910004: 
UMLS:C1860605: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found