1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0112013 | autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques | A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. |
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. |