| Metadata | |
|---|---|
| ID | DOID:0070521 |
| Name | peeling skin syndrome 2 |
| Definition | A peeling skin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TGM5 gene on chromosome 15q15.2. https://medlineplus.gov/genetics/condition/peeling-skin-syndrome-2/, https://pubmed.ncbi.nlm.nih.gov/16380904/, https://pubmed.ncbi.nlm.nih.gov/22036214/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:709416009 |
| SKOS |
exactMatch GARD:12863 exactMatch MESH:C536316 exactMatch MIM:609796 exactMatch ORDO:263534 exactMatch SNOMEDCT_US_2023_03_01:709416009 exactMatch UMLS_CUI:C1853354 |
| Subsets |
DO_rare_slim |
| Synonyms |
acral peeling skin syndrome [BROAD] APSS [BROAD] localized peeling skin syndrome [BROAD] PSS2 [EXACT] |
| Parent Relationships |