Palmoplantar keratoderma, norrbotten recessive type

Preferred Label : Palmoplantar keratoderma, norrbotten recessive type;

Obsolete resource : true;

Moved to : 248300;

Symbol : PPKNR;

CISMeF acronym : PPKNR;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : For a general phenotypic description and a discussion of genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK (144200).;

Inheritance : Autosomal recessive;

Prefixed ID : 244850;

Details

Origin ID

244850;

UMLS CUI

C1855644;

Currated CISMeF NLP mapping
- Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) [SNOMED CT concept]
- Hereditary palmoplantar keratoderma, Gamborg-Nielsen type [ORDO Disease]
- keratoderma, palmoplantar, norrbotten recessive type [MeSH concept]
- keratoderma, palmoplantar, norrbotten recessive type [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hyperkeratosis [HPO term]
- Palmoplantar keratoderma [HPO term]
- Papule [HPO term]
- Recurrent cutaneous fungal infections [HPO term]
ORDO concept(s)
- Hereditary palmoplantar keratoderma, Gamborg-Nielsen type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary palmoplantar keratoderma, Gamborg-Nielsen type [ORDO Disease]
- keratoderma, palmoplantar, norrbotten recessive type [MeSH Supplementary Concept]
- keratoderma, palmoplantar, norrbotten recessive type [MeSH concept]

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