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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;   SERPINB7-RELATED CONDITION
 primary_id: OMIM:615598;   RDO:9001010


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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 | ClinVar Annotator: match by term: SERPINB7-related condition OMIM
ClinVar		 PMID:24207119 PMID:24514002 PMID:24773080 PMID:25741868 PMID:27543371 More... NCBI chr18:57,112,242...57,164,213
Ensembl chr18:60,445,135...60,475,165 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    sensory system disease 6626
      skin disease 3772
        keratosis 181
          palmoplantar keratosis 43
            Palmoplantar Keratoderma, Nagashima Type 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        Neurologic Manifestations 9644
          sensory system disease 6626
            skin disease 3772
              Genetic Skin Diseases 1835
                palmoplantar keratosis 43
                  Diffuse Palmoplantar Keratoderma 12
                    Palmoplantar Keratoderma, Nagashima Type 1
paths to the root