| Metadata | |
|---|---|
| ID | DOID:0111528 |
| Name | Naegeli-Franceschetti-Jadassohn 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. https://ghr.nlm.nih.gov/condition/naegeli-franceschetti-jadassohn-syndrome-dermatopathia-pigmentosa-reticularis, https://www.ncbi.nlm.nih.gov/pubmed/16960809 |
| Xrefs |
SNOMEDCT_US_2023_03_01:239084001 |
| Subsets |
DO_rare_slim |
| Synonyms |
Naegeli syndrome [EXACT] NFJ syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a ectodermal dysplasia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |