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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 chrNW_004955451:16,819,463...16,870,780
Ensembl chrNW_004955451:16,819,023...16,855,528
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    sensory system disease 6154
      skin disease 3492
        Genetic Skin Diseases 1692
          palmoplantar keratosis 38
            punctate palmoplantar keratoderma 2
              punctate palmoplantar keratoderma type II 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13809
      nervous system disease 12068
        Neurologic Manifestations 8823
          sensory system disease 6154
            skin disease 3492
              Genetic Skin Diseases 1692
                palmoplantar keratosis 38
                  punctate palmoplantar keratoderma 2
                    punctate palmoplantar keratoderma type II 1
paths to the root