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ONTOLOGY REPORT - ANNOTATIONS


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 KRT14 on chromosome 17q21.2. (DO)
Synonyms:exact_synonym: NFJ syndrome;   NFJS;   Naegeli Syndrome
 primary_id: MESH:C538331
 alt_id: DOID:9002009;   OMIM:161000
 xref: GARD:3912;   ORDO:69087
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Naegeli-Franceschetti-Jadassohn syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt14 keratin 14 JBrowse link 10 88,118,029 88,122,233 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    syndrome 5231
      Naegeli-Franceschetti-Jadassohn syndrome 1
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        sensory system disease 4697
          skin disease 2464
            keratosis 127
              palmoplantar keratosis 28
                Naegeli-Franceschetti-Jadassohn syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.