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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 KRT14 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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:161000
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8496458 PMID:13141721 PMID:16960809 NCBI chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      ectodermal dysplasia 254
        Naegeli-Franceschetti-Jadassohn syndrome 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          skin disease 2741
            Genetic Skin Diseases 910
              palmoplantar keratosis 30
                Naegeli-Franceschetti-Jadassohn syndrome 1
paths to the root