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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:epidermolytic palmoplantar keratoderma
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Accession:DOID:0080223 term browser browse the term
Definition:A palmoplantar keratosis that is characterized by marked hyperkeratosis on the surface of palms and soles. (DO)
Synonyms:exact_synonym: EPPK;   EPPK (epidermolytic palmoplantar heratoderma);   Greither Keratosis;   Keratosis of Greither;   PPKE;   epidermolytic Thost-Unna disease;   epidermolytic palmoplantar keratodermas;   keratosis palmaris et plantaris familiaris;   localized epidermolytic hyperkeratoses;   localized epidermolytic hyperkeratosis;   tylosis
 narrow_synonym: KERATOSIS OF GREITHER PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS
 primary_id: MESH:D053546
 alt_id: OMIM:144200
 xref: GARD:2826;   ORDO:2199
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
epidermolytic palmoplantar keratoderma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma OMIM
ClinVar		 PMID:11286630 PMID:28492532 NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844 		JBrowse link
G Krt16 keratin 16 ISO ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma ClinVar PMID:25741868 PMID:28492532 NCBI chr10:85,168,357...85,171,744
Ensembl chr10:85,066,802...85,171,799 		JBrowse link
G Krt9 keratin 9 ISO ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma OMIM
ClinVar		 PMID:152116 PMID:1385292 PMID:2531643 PMID:2960371 PMID:7511021 More... NCBI chr10:85,120,962...85,127,228
Ensembl chr10:85,122,424...85,127,228 		JBrowse link
Epidermolytic Palmoplantar Keratoderma, with Knuckle Pads term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt9 keratin 9 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, epidermolytic, with knuckle pads ClinVar PMID:1385292 PMID:2531643 PMID:7512862 PMID:7523529 PMID:12192490 More... NCBI chr10:85,120,962...85,127,228
Ensembl chr10:85,122,424...85,127,228 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    sensory system disease 7132
      skin disease 4324
        keratosis 178
          palmoplantar keratosis 41
            Diffuse Palmoplantar Keratoderma 12
              epidermolytic palmoplantar keratoderma 3
                Epidermolytic Palmoplantar Keratoderma, with Knuckle Pads 1
                Palmoplantar Keratoderma, Vorner Type 0
Path 2
Term Annotations click to browse term
  disease 20988
    Pathological Conditions, Signs and Symptoms 13308
      Signs and Symptoms 10864
        Neurologic Manifestations 10112
          sensory system disease 7132
            skin disease 4324
              Genetic Skin Diseases 1988
                palmoplantar keratosis 41
                  Diffuse Palmoplantar Keratoderma 12
                    epidermolytic palmoplantar keratoderma 3
                      Epidermolytic Palmoplantar Keratoderma, with Knuckle Pads 1
                      Palmoplantar Keratoderma, Vorner Type 0
paths to the root