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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 Kb15 type II keratin Kb15 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 1 ClinVar PMID:19609311 NCBI chr 7:132,677,994...132,686,634
Ensembl chr 7:132,677,751...132,686,759
JBrowse link
G Krt16 keratin 16 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 1 OMIM
ClinVar
PMID:8595410 PMID:16250206 PMID:25741868 NCBI chr10:85,168,357...85,171,744 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of cellular proliferation 7034
      benign neoplasm 1936
        cell type benign neoplasm 1749
          papilloma 65
            focal nonepidermolytic palmoplantar keratoderma 4
              focal nonepidermolytic palmoplantar keratoderma 1 2
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        sensory system disease 5611
          skin disease 2954
            Genetic Skin Diseases 1046
              palmoplantar keratosis 32
                Diffuse Palmoplantar Keratoderma 11
                  nonepidermolytic palmoplantar keratoderma 9
                    focal nonepidermolytic palmoplantar keratoderma 4
                      focal nonepidermolytic palmoplantar keratoderma 1 2
paths to the root