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Human Disease

Naegeli-Franceschetti-Jadassohn syndrome

Term ID
DOID:0111528
Synonyms
  • Naegeli syndrome
  • NFJ syndrome
Definition
A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2. (2)
References
Ontology
Human Disease   ( DOID:0111528 )
Relationships
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Genes Involved
Zebrafish Models