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pilodental dysplasia-refractive errors syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.
Mondo Term and Equivalent IDs
MONDO:0009873:  pilodental dysplasia-refractive errors syndrome
GARD:0000277: 
MESH:C535763: 
Orphanet:2892: 
UMLS:C1849805: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found