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Disease Ontology Browser
Naegeli-Franceschetti-Jadassohn syndrome (DOID:0111528)
Alliance: disease page
Synonyms: Naegeli syndrome; NFJ syndrome
Alt IDs: OMIM:161000, MESH:C538331, ORDO:69087, UMLS_CUI:C0343111
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.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory