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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 or diffuse nonepidermolytic palmoplantar keratoderma
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Accession:DOID:0111710 term browser browse the term
Definition:A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has_material_basis_in heterozygous mutation in KRT6C on chromosome 12q13.13. (DO)
Synonyms:exact_synonym: PPKNEFD;   autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
 primary_id: OMIM:615735
 xref: ORDO:402003
For additional species annotation, visit the Alliance of Genome Resources.


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focal or diffuse nonepidermolytic palmoplantar keratoderma 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 OMIM:615735 OMIM
ClinVar
PMID:19609311 PMID:23662636 NCBI chr 7:143,208,034...143,217,771
Ensembl chr 7:143,208,527...143,217,535
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    sensory system disease 5176
      skin disease 2714
        Genetic Skin Diseases 892
          palmoplantar keratosis 29
            nonepidermolytic palmoplantar keratoderma 9
              focal or diffuse nonepidermolytic palmoplantar keratoderma 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          skin disease 2714
            Genetic Skin Diseases 892
              palmoplantar keratosis 29
                Diffuse Palmoplantar Keratoderma 11
                  nonepidermolytic palmoplantar keratoderma 9
                    focal or diffuse nonepidermolytic palmoplantar keratoderma 1
paths to the root