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ectodermal dysplasia-syndactyly syndrome

Disease Summary
Associated Targets (1)
Tclin

1


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Mondo Description Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.
Mondo Term and Equivalent IDs
MONDO:0013311:  ectodermal dysplasia-syndactyly syndrome
DC:0000645: 
OMIMPS:613573: 
Orphanet:247820: 
UMLS:CN228599: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found