| Metadata | |
|---|---|
| ID | DOID:0070526 |
| Name | PLACK syndrome |
| Definition | An skin disease characterized by peeling skin in association with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads that has_material_basis_in homozygous mutation in the CAST gene on chromosome 5q15. https://pubmed.ncbi.nlm.nih.gov/25683118/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:1237509001 |
| SKOS |
exactMatch ORDO:444138 exactMatch SNOMEDCT_US_2023_03_01:1237509001 exactMatch MIM:616295 exactMatch UMLS_CUI:C4225381 |
| Subsets |
DO_rare_slim |
| Synonyms |
peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads [EXACT] |
| Parent Relationships |
is_a autosomal recessive disease is_a skin disease |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |