loading...| Preferred Name | Naegeli-Franceschetti-Jadassohn syndrome | |
| Synonyms |
NFJ syndrome Naegeli syndrome |
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0111528 |
|
| Obsolete |
true |
|
| alternative label |
NFJ syndrome Naegeli syndrome |
|
| database_cross_reference |
UMLS_CUI:C0343111 SNOMEDCT_US_2023_03_01:239084001 OMIM:161000 MESH:C538331 GARD:3912 ORDO:69087 |
|
| 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. |
|
| has exact synonym |
NFJ syndrome Naegeli syndrome |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0111528 |
|
| in_subset | ||
| label |
Naegeli-Franceschetti-Jadassohn syndrome |
|
| notation |
DOID:0111528 |
|
| note |
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. |
|
| owl:deprecated |
true |
|
| preferred label |
Naegeli-Franceschetti-Jadassohn syndrome |
|
| prefLabel |
Naegeli-Franceschetti-Jadassohn syndrome |
|
| subClassOf |