peeling skin syndrome 5

Term ID

DOID:0070524

Synonyms

• autosomal recessive exfoliative ichthyosis
• exfoliative ichthyosis
• ichthyosis exfoliativa
• PSS5

Definition

A peeling skin syndrome that has_material_basis_in homozygous mutation in the SERPINB8 gene on chromosome 18q22.1. https://pubmed.ncbi.nlm.nih.gov/27476651/

References

• OMIM:617115

Ontology

Human Disease   ( DOID:0070524 )