Palmoplantar keratoderma and woolly hair

Preferred Label : Palmoplantar keratoderma and woolly hair;

Symbol : PPKWH;

CISMeF acronym : PPKWH;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the KN motif- and ankyrin repeat domain-containing protein 2 gene (KANK2, 614610.0001);

Prefixed ID : #616099;

Details

Origin ID

616099;

UMLS CUI

C4015202;

Automatic exact mappings (from CISMeF team)
- Woolly hair-palmoplantar keratoderma syndrome [ORDO Disease]
Genes related to phenotype
- Kn motif- and ankyrin repeat domain-containing protein 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Leukonychia [HPO term]
- Palmoplantar keratoderma [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse body hair [HPO term]
- Sparse eyelashes [HPO term]
- Sparse scalp hair [HPO term]
- Woolly hair [HPO term]
- Woolly scalp hair [HPO term]
ORDO concept(s)
- Woolly hair-palmoplantar keratoderma syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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