Term Name: | Naegeli-Franceschetti-Jadassohn syndrome |
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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. |
Ontology: | Human Disease [DOID:0111528] ( DOID:0111528 ) |