Epidermolytic Palmoplantar Keratoderma

Preferred Label : Epidermolytic Palmoplantar Keratoderma;

NCIt definition : A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas.;

Details

Origin ID

C84693;

UMLS CUI

C1721006;

Automatic exact mappings (from CISMeF team)
- keratin 9 [ORDO Gene]
- keratin 9 [HGNC gene]
Currated CISMeF NLP mapping
- Epidermolytic palmoplantar keratoderma [ORDO Disease]
- Epidermolytic palmoplantar keratoderma of Vorner (disorder) [SNOMED CT concept]
- Palmoplantar keratoderma, epidermolytic, 1 [OMIM Phenotype]
- diffuse epidermolytic palmoplantar keratoderma [Disease (Nov.)]
- epidermolytic palmoplantar keratoderma [DO Concept]
- keratoderma, palmoplantar, epidermolytic [MeSH Descriptor]
- keratoderma, palmoplantar, epidermolytic [MeSH concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epidermolytic palmoplantar keratoderma [ORDO Disease]
- Localized epidermolytic hyperkeratosis [HPO term]
- Palmoplantar keratoderma, epidermolytic, 1 [OMIM Phenotype]
- keratoderma, palmoplantar, epidermolytic [MeSH concept]
- keratoderma, palmoplantar, epidermolytic [MeSH Descriptor]
- localized epidermolytic hyperkeratosis [Disease (Nov.)]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
disease_has_primary_anatomic_site
- Skin [NCIt concept]

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