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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	GARD:3912 MESH:C538331 OMIM:161000 ORDO:69087 SNOMEDCT_US_2023_03_01:239084001 UMLS_CUI:C0343111
Subsets	DO_rare_slim
Synonyms	Naegeli syndrome [EXACT] NFJ syndrome [EXACT]
Parent Relationships	is_a ectodermal dysplasia is_a autosomal dominant disease