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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 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 18256
    sensory system disease 6575
      skin disease 3880
        keratosis 152
          palmoplantar keratosis 36
            Diffuse Palmoplantar Keratoderma 10
              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 18256
    Pathological Conditions, Signs and Symptoms 12646
      Signs and Symptoms 10117
        Neurologic Manifestations 9338
          sensory system disease 6575
            skin disease 3880
              Genetic Skin Diseases 1583
                palmoplantar keratosis 36
                  Diffuse Palmoplantar Keratoderma 10
                    epidermolytic palmoplantar keratoderma 3
                      Epidermolytic Palmoplantar Keratoderma, with Knuckle Pads 1
                      Palmoplantar Keratoderma, Vorner Type 0
paths to the root