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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Naegeli-Franceschetti-Jadassohn syndrome
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Accession:DOID:0111528 term browser browse the term
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. (DO)
Synonyms:exact_synonym: NFJ syndrome;   NFJS;   Naegeli syndrome
 primary_id: MESH:C538331
 alt_id: OMIM:161000
 xref: GARD:3912;   ORDO:69087

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Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9489
      ectodermal dysplasia 506
        Naegeli-Franceschetti-Jadassohn syndrome 0
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        Neurologic Manifestations 9046
          sensory system disease 6279
            skin disease 3576
              keratosis 171
                palmoplantar keratosis 40
                  Naegeli-Franceschetti-Jadassohn syndrome 0
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