Palmoplantar keratoderma, nonepidermolytic, focal or diffuse

Preferred Label : Palmoplantar keratoderma, nonepidermolytic, focal or diffuse;

Symbol : PPKNEFD;

CISMeF acronym : PPKNEFD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the keratin-6C gene (KRT6C, 612315.0001);

Prefixed ID : #615735;

Details

Origin ID

615735;

UMLS CUI

C3810394;

Automatic exact mappings (from CISMeF team)
- focal or diffuse nonepidermolytic palmoplantar keratoderma [DO Concept]
Currated CISMeF NLP mapping
- Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering [ORDO Disease]
- Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering (disorder) [SNOMED CT concept]
DO Cross reference
- focal or diffuse nonepidermolytic palmoplantar keratoderma [DO Concept]
- nonepidermolytic palmoplantar keratoderma [DO Concept]
Genes related to phenotype
- Keratin 6c, type II [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Epidermal acanthosis [HPO term]
- Palmoplantar keratoderma [HPO term]
ORDO concept(s)
- Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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