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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 the KRT6C gene on chromosome 12q13.13. (DO)
Synonyms:exact_synonym: PPKNEFD;   autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
 primary_id: MIM:615735
 xref: ORDO:402003


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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 Krt6c keratin 6c ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal or diffuse OMIM
ClinVar		 PMID:19609311 PMID:23662636 PMID:25741868 PMID:28492532 NCBI chr 7:132,799,608...132,804,045
Ensembl chr 7:132,799,616...132,804,045 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    sensory system disease 7336
      skin disease 4312
        keratosis 188
          palmoplantar keratosis 44
            nonepidermolytic palmoplantar keratoderma 13
              focal or diffuse nonepidermolytic palmoplantar keratoderma 1
Path 2
Term Annotations click to browse term
  disease 19106
    Pathological Conditions, Signs and Symptoms 13615
      Signs and Symptoms 11199
        Neurologic Manifestations 10433
          sensory system disease 7336
            skin disease 4312
              Genetic Skin Diseases 1881
                palmoplantar keratosis 44
                  nonepidermolytic palmoplantar keratoderma 13
                    focal or diffuse nonepidermolytic palmoplantar keratoderma 1
paths to the root