1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0070526 | PLACK syndrome | 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. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:0050177 | monogenic disease | A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. |