| Metadata | |
|---|---|
| ID | DOID:0112013 |
| Name | autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques |
| Definition | A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. https://pubmed.ncbi.nlm.nih.gov/24452206/, https://pubmed.ncbi.nlm.nih.gov/22405088/ |
| Xrefs | |
| Synonyms |
autosomal dominant Olmsted syndrome [EXACT] OLMS1 [EXACT] Olmsted syndrome 1 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a mutilating palmoplantar keratoderma with periorificial keratotic plaques |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |