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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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Naegeli-Franceschetti-Jadassohn syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt14 keratin 14 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Naegeli-Franceschetti-Jadassohn syndrome
OMIM
CTD
ClinVar
PMID:8496458 PMID:13141721 PMID:16960809 NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21142
    syndrome 10749
      ectodermal dysplasia 538
        Naegeli-Franceschetti-Jadassohn syndrome 1
Path 2
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      nervous system disease 14019
        Neurologic Manifestations 9994
          sensory system disease 6892
            skin disease 3916
              keratosis 184
                palmoplantar keratosis 44
                  Naegeli-Franceschetti-Jadassohn syndrome 1
paths to the root