Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 OMIM:615598
ClinVar Annotator: match by term: Palmoplantar keratoderma, nagashima type
OMIM
ClinVar
PMID:24207119 PMID:24514002 PMID:24773080 PMID:25741868 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 17251
    sensory system disease 5658
      skin disease 2974
        Genetic Skin Diseases 1051
          palmoplantar keratosis 32
            Palmoplantar Keratoderma, Nagashima Type 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        sensory system disease 5658
          skin disease 2974
            keratosis 141
              palmoplantar keratosis 32
                Diffuse Palmoplantar Keratoderma 11
                  Palmoplantar Keratoderma, Nagashima Type 1
paths to the root