OBO ID: DOID:0111528
Term Name: Naegeli-Franceschetti-Jadassohn syndrome Search Ontology:
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
is a type of:
OTHER Naegeli-Franceschetti-Jadassohn syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KRT14 Naegeli-Franceschetti-Jadassohn syndrome
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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