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 |
Subsets |
DO_rare_slim |
Synonyms |
acral peeling skin syndrome [BROAD] APSS [BROAD] localized peeling skin syndrome [BROAD] PSS2 [EXACT] |
Parent Relationships |