Metadata | |
---|---|
ID | DOID:0070523 |
Name | peeling skin syndrome 4 |
Definition | A peeling skin syndrome that has_material_basis_in homozygous mutation in the CSTA gene on chromosome 3q21.1. https://pubmed.ncbi.nlm.nih.gov/21944047/, https://pubmed.ncbi.nlm.nih.gov/23534700/ |
Xrefs | |
SKOS |
exactMatch MESH:C564309 exactMatch MIM:607936 |
Synonyms |
AREI [BROAD] autosomal recessive exfoliative ichthyosis [BROAD] exfoliative ichthyosis [BROAD] ichthyosis bullosa of Siemens-like [EXACT] ichthyosis exfoliativa [BROAD] PSS4 [EXACT] |
Parent Relationships |