Palmoplantar keratoderma, nonepidermolytic, focal 1

Preferred Label : Palmoplantar keratoderma, nonepidermolytic, focal 1;

Symbol : FNEPPK1;

CISMeF acronym : FNEPPK1; PPKFNE;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Focal nonepidermolytic palmoplantar keratoderma; Keratoderma, focal nonepidermolytic palmoplantar; PPKFNE;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the keratin 16 gene (KRT16, 148067.0002);

Prefixed ID : #613000;

Détails

Origin ID

613000;

UMLS CUI

C4552049;

Automatic exact mappings (from CISMeF team)
- KRT16 wt Allele [NCIt concept]
- focal nonepidermolytic palmoplantar keratoderma [DO Concept]
- focal nonepidermolytic palmoplantar keratoderma 1 [DO Concept]
- hyperkeratosis of the palms and soles and esophageal papillomas [MeSH Supplementary Concept]
- keratin 16 [ORDO Gene]
- keratin 16 [HGNC gene]
DO Cross reference
- focal nonepidermolytic palmoplantar keratoderma 1 [DO Concept]
- nonepidermolytic palmoplantar keratoderma [DO Concept]
Genes related to phenotype
- Keratin 16, type I [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Keratosis pilaris [HPO term]
- Palmoplantar keratoderma [HPO term]
ORDO concept(s)
- Isolated focal non-epidermolytic palmoplantar keratoderma [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperkeratosis of the palms and soles and esophageal papillomas [MeSH concept]
- hyperkeratosis of the palms and soles and esophageal papillomas [MeSH Supplementary Concept]

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