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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:focal nonepidermolytic palmoplantar keratoderma 1
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Accession:DOID:0111709 term browser browse the term
Definition:A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in KRT16 on chromosome 17q21.2. (DO)
Synonyms:exact_synonym: FNEPPK1;   PPKFNE
 primary_id: OMIM:613000
 alt_id: OMIA:002088
For additional species annotation, visit the Alliance of Genome Resources.


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focal nonepidermolytic palmoplantar keratoderma 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt16 keratin 16 ISO OMIM NCBI chr10:88,149,210...88,152,167
Ensembl chr10:88,149,345...88,152,064
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of cellular proliferation 5913
      benign neoplasm 957
        cell type benign neoplasm 779
          papilloma 43
            focal nonepidermolytic palmoplantar keratoderma 4
              focal nonepidermolytic palmoplantar keratoderma 1 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          skin disease 2749
            Genetic Skin Diseases 887
              palmoplantar keratosis 29
                Diffuse Palmoplantar Keratoderma 11
                  nonepidermolytic palmoplantar keratoderma 9
                    focal nonepidermolytic palmoplantar keratoderma 4
                      focal nonepidermolytic palmoplantar keratoderma 1 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.