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Echinobase
Summary Literature (0)
DOID:0111528 - Naegeli-Franceschetti-Jadassohn syndrome

Disease Ontology 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.

Synonyms: NFJ syndrome, Naegeli syndrome,

Echinobase Genes :


OMIM:
MIM:161000 - naegeli syndrome

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a)