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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:punctate palmoplantar keratoderma type II
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Accession:DOID:0080213 term browser browse the term
Definition:A punctate palmoplantar keratoderma that is characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections on the palms, soles and digits. (DO)
Synonyms:exact_synonym: PPKP2;   palmoplantar keratoderma, punctate type 2
 primary_id: OMIM:175860
 xref: GARD:4439


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punctate palmoplantar keratoderma type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Punctate palmoplantar keratoderma type 2 ClinVar PMID:7545954 PMID:7894492 PMID:8531967 PMID:8644703 PMID:8833256 More... NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7022
      skin disease 4047
        Genetic Skin Diseases 1852
          palmoplantar keratosis 44
            punctate palmoplantar keratoderma 2
              punctate palmoplantar keratoderma type II 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        Neurologic Manifestations 10102
          sensory system disease 7022
            skin disease 4047
              Genetic Skin Diseases 1852
                palmoplantar keratosis 44
                  punctate palmoplantar keratoderma 2
                    punctate palmoplantar keratoderma type II 1
paths to the root