| Metadata | |
|---|---|
| ID | DOID:0070520 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070520 Copy |
| Name | peeling skin syndrome 1 |
| Definition | A peeling skin syndrome that has_material_basis_in homozygous mutation in the CDSN gene on chromosome 6p21.33. https://pubmed.ncbi.nlm.nih.gov/20691404/, https://pubmed.ncbi.nlm.nih.gov/28584761 |
| Xrefs | |
| SKOS |
exactMatch MIM:270300 exactMatch ORDO:263553 exactMatch UMLS_CUI:C5679693 exactMatch UMLS_CUI:C5768235 |
| Subsets |
DO_rare_slim |
| Synonyms |
generalized inflammatory peeling skin syndrome [EXACT] inflammatory peeling skin syndrome [EXACT] peeling skin syndrome type B [EXACT] PSS1 [EXACT] |
| Parent Relationships |