Peeling skin syndrome 5

Preferred Label : Peeling skin syndrome 5;

Symbol : PSS5;

CISMeF acronym : PSS5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the serpin family B, member 8 gene (SERPINB8, 601697.0001);

Prefixed ID : #617115;

Details

Origin ID

617115;

UMLS CUI

C4310710;

Genes related to phenotype
- Serpin family b, member 8 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Epidermal acanthosis [HPO term]
- Hyperkeratosis [HPO term]
ORDO concept(s)
- Exfoliative ichthyosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

All resources
or only the major
or use the search engine

recommendations
documents concerning education
documents for patients