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Böök syndrome

Disease Summary
Associated Targets (0)

Explore Associated Targets
Mondo Description Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.
Mondo Term and Equivalent IDs
MONDO:0007207:  Böök syndrome
GARD:0000932: 
MESH:C562993: 
Orphanet:1262: 
SCTID:722296002: 
UMLS:C0457014: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found