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DO Term : Naegeli-Franceschetti-Jadassohn syndrome [DOID:0111528] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • GARD:3912,
  • NFJ syndrome,
  • OMIM:161000,
  • UMLS_CUI:C0343111,
  • SNOMEDCT_US_2023_03_01:239084001,
  • 161000,
  • ORDO:69087,
  • MESH:C538331,
  • Naegeli syndrome
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents