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| Term | Naegeli-Franceschetti-Jadassohn syndrome | ID (Ontology) | DOID:0111528 (Human Disease) |
| 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. | ||
| Also Known As | "Naegeli syndrome" ; "NFJ syndrome" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease__ syndrome | |__ectodermal dysplasia________| Naegeli-Franceschetti-Jadassohn syndrome |
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autosomal dominant disease ectodermal dysplasia |
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GARD:3912 MESH:C538331 MIM:161000 ORDO:69087 SNOMEDCT_US_2023_03_01:239084001 UMLS_CUI:C0343111 |
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