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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:Palmoplantar Keratoderma, Nagashima Type
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Accession:DOID:9000205 term browser browse the term
Synonyms:exact_synonym: PPKN
 primary_id: OMIM:615598;   RDO:9001010
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Palmoplantar Keratoderma, Nagashima Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinb7 serpin family B member 7 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, Nagashima type OMIM
ClinVar		 PMID:24207119 PMID:24514002 PMID:24773080 PMID:25741868 PMID:27543371 More... NCBI chr13:23,369,830...23,442,205
Ensembl chr13:23,395,671...23,442,205 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20983
    sensory system disease 7131
      skin disease 4323
        keratosis 178
          palmoplantar keratosis 41
            Palmoplantar Keratoderma, Nagashima Type 1
Path 2
Term Annotations click to browse term
  disease 20983
    disease of anatomical entity 18174
      nervous system disease 14106
        Neurologic Manifestations 10111
          sensory system disease 7131
            skin disease 4323
              Genetic Skin Diseases 1988
                palmoplantar keratosis 41
                  Diffuse Palmoplantar Keratoderma 12
                    Palmoplantar Keratoderma, Nagashima Type 1
paths to the root