Palmoplantar keratoderma, nonepidermolytic

Preferred Label : Palmoplantar keratoderma, nonepidermolytic;

Symbol : NEPPK;

CISMeF acronym : NEPPK; PPKNE; TYLOSIS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Keratoderma, nonepidermolytic palmoplantar; TYLOSIS; PPKNE; Nonepidermolytic palmoplantar keratoderma;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the keratin 1 gene (KRT1, 139350.0004);

Prefixed ID : #600962;

Détails

Origin ID

600962;

UMLS CUI

C1833030;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) [SNOMED CT concept]
- Diffuse non-epidermolytic palmoplantar keratoderma [ICD-11 More detail]
- Hyperkeratosis (morphologic abnormality) [SNOMED CT concept]
- KRT1 wt Allele [NCIt concept]
- KRT16 wt Allele [NCIt concept]
- Non-epidermolytic palmoplantar keratoderma [ORDO Disease]
- keratin 16 [ORDO Gene]
- keratin 16 [HGNC gene]
Currated CISMeF NLP mapping
- Diffuse palmoplantar hyperkeratosis [HPO term]
- Diffuse palmoplantar keratoderma [ORDO Disease]
- Diffuse palmoplantar keratoderma [HPO term]
- Diffuse palmoplantar keratoderma of Thost-Unna (disorder) [SNOMED CT concept]
- Hereditary diffuse palmoplantar keratoderma (disorder) [SNOMED CT concept]
- Keratoderma palmoplantaris Thost Unna [PASCAL descriptor]
- Nonepidermolytic palmoplantar hyperkeratosis [HPO term]
- Thost-Unna palmoplantar keratoderma [ORDO Disease]
- Tylosis [NCIt concept]
- Tylosis [MedDRA LLT]
- Unna-Thost Disease [NCIt concept]
- diffuse palmoplantar keratoderma [Disease (Nov.)]
- diffuse palmoplantar keratoderma [SNOMED Notion]
- keratoderma, palmoplantar, diffuse [MeSH Descriptor]
- keratoderma, palmoplantar, diffuse [MeSH concept]
- nonepidermolytic palmoplantar keratoderma [Disease (Nov.)]
- nonepidermolytic palmoplantar keratoderma [DO Concept]
- palmoplantar keratoderma, nonepidermolytic [MeSH concept]
- palmoplantar keratoderma, nonepidermolytic [MeSH Supplementary Concept]
DO Cross reference
- nonepidermolytic palmoplantar keratoderma [DO Concept]
Genes related to phenotype
- Keratin 1, type II [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congenital onset [HPO term]
- Nonepidermolytic palmoplantar hyperkeratosis [HPO term]
ORDO concept(s)
- KRT1-related diffuse nonepidermolytic keratoderma [ORDO Disease]
- Thost-Unna palmoplantar keratoderma [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nonepidermolytic palmoplantar hyperkeratosis [HPO term]
- Thost-Unna palmoplantar keratoderma [ORDO Disease]
- nonepidermolytic palmoplantar keratoderma [Disease (Nov.)]
- palmoplantar keratoderma, nonepidermolytic [MeSH Supplementary Concept]
- palmoplantar keratoderma, nonepidermolytic [MeSH concept]

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