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Naegeli-Franceschetti-Jadassohn syndrome

Disease Summary
Associated Targets (1)
Tbio

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Mondo Description Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.
Uniprot Description A rare autosomal dominant form of ectodermal dysplasia. The cardinal features are absence of dermatoglyphics (fingerprints), reticular cutaneous hyperpigmentation (starting at about the age of 2 years without a preceding inflammatory stage), palmoplantar keratoderma, hypohidrosis with diminished sweat gland function and discomfort provoked by heat, nail dystrophy, and tooth enamel defects.
Mondo Term and Equivalent IDs
MONDO:0008059:  Naegeli-Franceschetti-Jadassohn syndrome
DOID:0111528: 
GARD:0003912: 
MESH:C538331: 
Orphanet:69087: 
SCTID:239084001: 
UMLS:C0343111: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found