| Metadata | |
|---|---|
| ID | DOID:0070524 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070524 Copy |
| Name | peeling skin syndrome 5 |
| 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/ |
| Xrefs | |
| SKOS |
exactMatch MIM:617115 |
| Synonyms |
autosomal recessive exfoliative ichthyosis [BROAD] exfoliative ichthyosis [BROAD] ichthyosis exfoliativa [BROAD] PSS5 [EXACT] |
| Parent Relationships |