Search Ontology:
Human Disease
Naegeli-Franceschetti-Jadassohn syndrome
- Term ID
- DOID:0111528
- Synonyms
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- 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
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- GARD:3912
- MESH:C538331
- MIM:161000
- ORDO:69087
- SNOMEDCT_US_2023_03_01:239084001
- UMLS_CUI:C0343111
- Ontology
- Human Disease ( DOID:0111528 )
- is a type of
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Genes Involved
Zebrafish Models